Skip to main content
Top
Published in: Journal of Genetic Counseling 1/2011

01-02-2011 | Professional Issues

Genetic Counseling Considerations in the Evaluation of Families for Lynch Syndrome—A Review

Authors: Scott M. Weissman, Cecelia Bellcross, Christina Chimera Bittner, Mary E. Freivogel, Joy Larsen Haidle, Pardeep Kaurah, Anna Leininger, Selvi Palaniappan, Kelle Steenblock, Thuy M. Vu, Molly S. Daniels

Published in: Journal of Genetic Counseling | Issue 1/2011

Login to get access

Abstract

Lynch syndrome is the most common hereditary colorectal cancer syndrome and the most common cause of hereditary endometrial cancer. Identifying and evaluating families for Lynch syndrome is increasing in complexity due to the recognition that: family history-based clinical criteria lack sensitivity and specificity; genetic testing for Lynch syndrome continues to evolve as understanding of the molecular mechanisms underlying it evolves; and the Lynch syndrome phenotype encompasses multiple organ systems and demonstrates overlap with other hereditary cancer syndromes. This document is a summary of considerations when evaluating individuals and families for Lynch syndrome, including information on cancer risks, diagnostic criteria, tumor and genetic testing strategies, and the management of individuals with this condition.
Literature
go back to reference Aaltonen, L. A., Salovaara, R., Kristo, P., Canzian, F., Hemminki, A., Peltomaki, P., et al. (1998). Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. The New England Journal of Medicine, 338(21), 1481–1487.PubMed Aaltonen, L. A., Salovaara, R., Kristo, P., Canzian, F., Hemminki, A., Peltomaki, P., et al. (1998). Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. The New England Journal of Medicine, 338(21), 1481–1487.PubMed
go back to reference Aarnio, M., Salovaara, R., Aaltonen, L. A., Mecklin, J. P., & Jarvinen, H. J. (1997). Features of gastric cancer in hereditary non-polyposis colorectal cancer syndrome. International Journal of Cancer, 74, 551–555. Aarnio, M., Salovaara, R., Aaltonen, L. A., Mecklin, J. P., & Jarvinen, H. J. (1997). Features of gastric cancer in hereditary non-polyposis colorectal cancer syndrome. International Journal of Cancer, 74, 551–555.
go back to reference Aarnio, M., Sankila, R., Pukkala, E., Salovaara, R., Aaltonen, L. A., de la Chapelle, A., et al. (1999). Cancer risk in mutation carriers of DNA-mismatch-repair genes. International Journal of Cancer, 81(2), 214–218. Aarnio, M., Sankila, R., Pukkala, E., Salovaara, R., Aaltonen, L. A., de la Chapelle, A., et al. (1999). Cancer risk in mutation carriers of DNA-mismatch-repair genes. International Journal of Cancer, 81(2), 214–218.
go back to reference Abbas, O., & Mahalingam, M. (2009). Cutaneous sebaceous neoplasms as markers of Muir-Torre syndrome: a diagnostic algorithm. Journal of Cutaneous Pathology, 36(6), 613–619.PubMed Abbas, O., & Mahalingam, M. (2009). Cutaneous sebaceous neoplasms as markers of Muir-Torre syndrome: a diagnostic algorithm. Journal of Cutaneous Pathology, 36(6), 613–619.PubMed
go back to reference Backes, F. J., Leon, M. E., Ivanov, I., Suarez, A., Frankel, W. L., Hampel, H., et al. (2009). Prospective evaluation of DNA mismatch repair protein expression in primary endometrial cancer. Gynecologic Oncology, 114(3), 486–490.PubMed Backes, F. J., Leon, M. E., Ivanov, I., Suarez, A., Frankel, W. L., Hampel, H., et al. (2009). Prospective evaluation of DNA mismatch repair protein expression in primary endometrial cancer. Gynecologic Oncology, 114(3), 486–490.PubMed
go back to reference Baglietto, L., Lindor, N. M., Dowty, J. G., White, D. M., Wagner, A., Gomez Garcia, E. B., et al. (2009). Risks of Lynch syndrome cancers for MSH6 mutation carriers. Journal of the National Cancer Institute, 102(3), 193–201.PubMed Baglietto, L., Lindor, N. M., Dowty, J. G., White, D. M., Wagner, A., Gomez Garcia, E. B., et al. (2009). Risks of Lynch syndrome cancers for MSH6 mutation carriers. Journal of the National Cancer Institute, 102(3), 193–201.PubMed
go back to reference Balmana, J., Stockwell, D. H., Steyerberg, E. W., Stoffel, E. M., Deffenbaugh, A. M., Reid, J. E., et al. (2006). Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA, 296(12), 1469–1478.PubMed Balmana, J., Stockwell, D. H., Steyerberg, E. W., Stoffel, E. M., Deffenbaugh, A. M., Reid, J. E., et al. (2006). Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA, 296(12), 1469–1478.PubMed
go back to reference Bandipalliam, P. (2005). Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations. Fam Cancer, 4(4), 323–333.PubMed Bandipalliam, P. (2005). Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations. Fam Cancer, 4(4), 323–333.PubMed
go back to reference Barnetson, R. A., Tenesa, A., Farrington, S. M., Nicholl, I. D., Cetnarskyj, R., Porteous, M. E., et al. (2006). Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. The New England Journal of Medicine, 354(26), 2751–2763.PubMed Barnetson, R. A., Tenesa, A., Farrington, S. M., Nicholl, I. D., Cetnarskyj, R., Porteous, M. E., et al. (2006). Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. The New England Journal of Medicine, 354(26), 2751–2763.PubMed
go back to reference Barrow, E., Alduaij, W., Robinson, L., Shenton, A., Clancy, T., Lalloo, F., et al. (2008). Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations. Clinical Genetics, 74(3), 233–242.PubMed Barrow, E., Alduaij, W., Robinson, L., Shenton, A., Clancy, T., Lalloo, F., et al. (2008). Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations. Clinical Genetics, 74(3), 233–242.PubMed
go back to reference Barrow, E., Robinson, L., Alduaij, W., Shenton, A., Clancy, T., Lalloo, F., et al. (2009). Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. Clinical Genetics, 75(2), 141–149.PubMed Barrow, E., Robinson, L., Alduaij, W., Shenton, A., Clancy, T., Lalloo, F., et al. (2009). Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. Clinical Genetics, 75(2), 141–149.PubMed
go back to reference Berends, M. J., Hollema, H., Wu, Y., van Der Sluis, T., Mensink, R. G., ten Hoor, K. A., et al. (2001). MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer. International Journal of Cancer, 92(3), 398–403. Berends, M. J., Hollema, H., Wu, Y., van Der Sluis, T., Mensink, R. G., ten Hoor, K. A., et al. (2001). MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer. International Journal of Cancer, 92(3), 398–403.
go back to reference Berends, M. J., Wu, Y., Sijmons, R. H., Mensink, R. G., van der Sluis, T., Hordijk-Hos, J. M., et al. (2002). Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. American Journal of Human Genetics, 70(1), 26–37.PubMed Berends, M. J., Wu, Y., Sijmons, R. H., Mensink, R. G., van der Sluis, T., Hordijk-Hos, J. M., et al. (2002). Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. American Journal of Human Genetics, 70(1), 26–37.PubMed
go back to reference Boland, C. R. (2005). Evolution of the nomenclature for the hereditary colorectal cancer syndromes. Fam Cancer, 4(3), 211–218.PubMed Boland, C. R. (2005). Evolution of the nomenclature for the hereditary colorectal cancer syndromes. Fam Cancer, 4(3), 211–218.PubMed
go back to reference Boland, C. R., Thibodeau, S. N., Hamilton, S. R., Sidransky, D., Eshleman, J. R., Burt, R. W., et al. (1998). A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Research, 58(22), 5248–5257.PubMed Boland, C. R., Thibodeau, S. N., Hamilton, S. R., Sidransky, D., Eshleman, J. R., Burt, R. W., et al. (1998). A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Research, 58(22), 5248–5257.PubMed
go back to reference Burn, J., Bishop, D. T., Mecklin, J.-P., Macrae, F., Moslein, G., Olschwang, S., et al. (2008). Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. The New England Journal of Medicine, 359(24), 2567–2578.PubMed Burn, J., Bishop, D. T., Mecklin, J.-P., Macrae, F., Moslein, G., Olschwang, S., et al. (2008). Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. The New England Journal of Medicine, 359(24), 2567–2578.PubMed
go back to reference Burn, J., Gerdes, A. M., Mecklin, J. P., Macrae, F., Moeslein, G., Olschwang, S., et al. (2009). Aspirin prevents cancer in Lynch Syndrome: results of long term follow-up in the CAPP2 trial. (program #113). Presented at the 59th Annual Meeting of the American Society of Human Genetics, October 23, 2009, Honolulu, Hawaii. Available at http://www.ashg.org/2009meeting/abstracts/fulltext/. Burn, J., Gerdes, A. M., Mecklin, J. P., Macrae, F., Moeslein, G., Olschwang, S., et al. (2009). Aspirin prevents cancer in Lynch Syndrome: results of long term follow-up in the CAPP2 trial. (program #113). Presented at the 59th Annual Meeting of the American Society of Human Genetics, October 23, 2009, Honolulu, Hawaii. Available at http://​www.​ashg.​org/​2009meeting/​abstracts/​fulltext/​.
go back to reference Casey, G., Lindor, N. M., Papadopoulos, N., Thibodeau, S. N., Moskow, J., Steelman, S., et al. (2005). Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. JAMA, 293(7), 799–809.PubMed Casey, G., Lindor, N. M., Papadopoulos, N., Thibodeau, S. N., Moskow, J., Steelman, S., et al. (2005). Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. JAMA, 293(7), 799–809.PubMed
go back to reference Catto, J. W. F., Azzouzi, A. R., Amira, N., Rehman, I., Feeley, K. M., Cross, S. S., et al. (2003). Distinct patterns of microsatellite instability are seen in tumours of the urinary tract. Oncogene, 22, 8699–8706.PubMed Catto, J. W. F., Azzouzi, A. R., Amira, N., Rehman, I., Feeley, K. M., Cross, S. S., et al. (2003). Distinct patterns of microsatellite instability are seen in tumours of the urinary tract. Oncogene, 22, 8699–8706.PubMed
go back to reference Catto, J. W., Azzouzi, A. R., Rehman, I., Feeley, K. M., Cross, S. S., Amira, N., et al. (2005). Promoter hypermethylation is associated with tumor location, stage, and subsequent progression in transitional cell carcinoma. Journal of Clinical Oncology, 23(13), 2903–2910.PubMed Catto, J. W., Azzouzi, A. R., Rehman, I., Feeley, K. M., Cross, S. S., Amira, N., et al. (2005). Promoter hypermethylation is associated with tumor location, stage, and subsequent progression in transitional cell carcinoma. Journal of Clinical Oncology, 23(13), 2903–2910.PubMed
go back to reference Chao, E. C., Velasquez, J. L., Witherspoon, M. S., Rozek, L. S., Peel, D., Ng, P., et al. (2008). Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). Human Mutation, 29(6), 852–860.PubMed Chao, E. C., Velasquez, J. L., Witherspoon, M. S., Rozek, L. S., Peel, D., Ng, P., et al. (2008). Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). Human Mutation, 29(6), 852–860.PubMed
go back to reference Chen, S., Wang, W., Lee, S., Nafa, K., Lee, J., Romans, K., et al. (2006). Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA, 296(12), 1479–1487.PubMed Chen, S., Wang, W., Lee, S., Nafa, K., Lee, J., Romans, K., et al. (2006). Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA, 296(12), 1479–1487.PubMed
go back to reference Chen, S., Euhus, D., & Parmigiani, G. (2007). Quantitative models for predicting mutations in Lynch syndrome genes. Current Colorectal Cancer Reports, 3(4), 206–211. Chen, S., Euhus, D., & Parmigiani, G. (2007). Quantitative models for predicting mutations in Lynch syndrome genes. Current Colorectal Cancer Reports, 3(4), 206–211.
go back to reference Choi, M. Y., Lauwers, G. Y., Hur, C., Willett, C. G., & Chung, D. C. (2007). Microsatellite instability is frequently observed in rectal cancer and influenced by neoadjuvant chemoradiation. International Journal of Radiation Oncology, Biology, Physics, 68(5), 1584.PubMed Choi, M. Y., Lauwers, G. Y., Hur, C., Willett, C. G., & Chung, D. C. (2007). Microsatellite instability is frequently observed in rectal cancer and influenced by neoadjuvant chemoradiation. International Journal of Radiation Oncology, Biology, Physics, 68(5), 1584.PubMed
go back to reference De Jong, A. E., Morreau, H., Van Puijenbroek, M., Eilers, P. H., Wijnen, J., Nagengast, F. M., et al. (2004a). The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC. Gastroenterology, 126(1), 42–48.PubMed De Jong, A. E., Morreau, H., Van Puijenbroek, M., Eilers, P. H., Wijnen, J., Nagengast, F. M., et al. (2004a). The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC. Gastroenterology, 126(1), 42–48.PubMed
go back to reference De Jong, A. E., van Puijenbroek, M., Hendriks, Y., Tops, C., Wijnen, J., Ausems, M. G., et al. (2004b). Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clinical Cancer Research, 10(3), 972–980.PubMed De Jong, A. E., van Puijenbroek, M., Hendriks, Y., Tops, C., Wijnen, J., Ausems, M. G., et al. (2004b). Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clinical Cancer Research, 10(3), 972–980.PubMed
go back to reference De Jong, A. E., Hendriks, Y. M. C., Kleibeuker, J. H., de Boer, S. Y., Cats, A., Griffioen, G., et al. (2006). Decrease in mortality in lynch syndrome families because of surveillance. Gastroenterology, 130(3), 665–671.PubMed De Jong, A. E., Hendriks, Y. M. C., Kleibeuker, J. H., de Boer, S. Y., Cats, A., Griffioen, G., et al. (2006). Decrease in mortality in lynch syndrome families because of surveillance. Gastroenterology, 130(3), 665–671.PubMed
go back to reference Dijkhuizen, F. P., Mol, B. W., Brolmann, H. A., & Heintz, A. P. (2000). The accuracy of endometrial sampling in the diagnosis of patients with endometrial carcinoma and hyperplasia: a meta-analysis. Cancer, 89(8), 1765–1772.PubMed Dijkhuizen, F. P., Mol, B. W., Brolmann, H. A., & Heintz, A. P. (2000). The accuracy of endometrial sampling in the diagnosis of patients with endometrial carcinoma and hyperplasia: a meta-analysis. Cancer, 89(8), 1765–1772.PubMed
go back to reference Domingo, E., Laiho, P., Ollikainen, M., Pinto, M., Wang, L., French, A. J., et al. (2004). BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. Journal of Medical Genetics, 41(9), 664–668.PubMed Domingo, E., Laiho, P., Ollikainen, M., Pinto, M., Wang, L., French, A. J., et al. (2004). BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. Journal of Medical Genetics, 41(9), 664–668.PubMed
go back to reference Dove-Edwin, I., Boks, D., Goff, S., Kenter, G. G., Carpenter, R., Vasen, H. F., et al. (2002). The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma. Cancer, 94(6), 1708–1712.PubMed Dove-Edwin, I., Boks, D., Goff, S., Kenter, G. G., Carpenter, R., Vasen, H. F., et al. (2002). The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma. Cancer, 94(6), 1708–1712.PubMed
go back to reference Dunlop, M. G., Farrington, S. M., Carothers, A. D., Wyllie, A. H., Sharp, L., Burn, J., et al. (1997). Cancer risk associated with germline DNA mismatch repair gene mutations. Human Molecular Genetics, 6(1), 105–110.PubMed Dunlop, M. G., Farrington, S. M., Carothers, A. D., Wyllie, A. H., Sharp, L., Burn, J., et al. (1997). Cancer risk associated with germline DNA mismatch repair gene mutations. Human Molecular Genetics, 6(1), 105–110.PubMed
go back to reference Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group (2009). Recommendations from the EGAPP working group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genetics in Medicine, 11(1), 35–41. Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group (2009). Recommendations from the EGAPP working group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genetics in Medicine, 11(1), 35–41.
go back to reference Fenoglio-Preiser, C., Carneiro, F., Correa, P., Guilford, P., Lambert, R., Megraud, F., et al. (2000). Gastric carcinoma. In S. R. Hamilton & L. A. Aaltonen (Eds.), Pathology and genetics of tumours of the digestive system (pp. 39–52). Lyon: IARC. Fenoglio-Preiser, C., Carneiro, F., Correa, P., Guilford, P., Lambert, R., Megraud, F., et al. (2000). Gastric carcinoma. In S. R. Hamilton & L. A. Aaltonen (Eds.), Pathology and genetics of tumours of the digestive system (pp. 39–52). Lyon: IARC.
go back to reference Gazzoli, I., Loda, M., Garber, J., Syngal, S., & Kolodner, R. D. (2002). A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor. Cancer Research, 62(14), 3925–3928.PubMed Gazzoli, I., Loda, M., Garber, J., Syngal, S., & Kolodner, R. D. (2002). A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor. Cancer Research, 62(14), 3925–3928.PubMed
go back to reference Geisler, J. P., Goodheart, M. J., Sood, A. K., Holmes, R. J., Hatterman-Zogg, M. A., & Buller, R. E. (2003). Mismatch repair gene expression defects contribute to microsatellite instability in ovarian carcinoma. Cancer, 98(10), 2199–2206.PubMed Geisler, J. P., Goodheart, M. J., Sood, A. K., Holmes, R. J., Hatterman-Zogg, M. A., & Buller, R. E. (2003). Mismatch repair gene expression defects contribute to microsatellite instability in ovarian carcinoma. Cancer, 98(10), 2199–2206.PubMed
go back to reference Giardiello, F. M., Brensinger, J. D., & Petersen, G. M. (2001). AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology, 121(1), 198–213.PubMed Giardiello, F. M., Brensinger, J. D., & Petersen, G. M. (2001). AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology, 121(1), 198–213.PubMed
go back to reference Goodfellow, P. J., Buttin, B. M., Herzog, T. J., Rader, J. S., Gibb, R. K., Swisher, E., et al. (2003). Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. Proceedings of the National Academy of Sciences of the United States of America, 100(10), 5908–5913.PubMed Goodfellow, P. J., Buttin, B. M., Herzog, T. J., Rader, J. S., Gibb, R. K., Swisher, E., et al. (2003). Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. Proceedings of the National Academy of Sciences of the United States of America, 100(10), 5908–5913.PubMed
go back to reference Hamilton, S. R., Liu, B., Parsons, R. E., Papadopoulos, N., Jen, J., Powell, S. M., et al. (1995). The molecular basis of Turcot’s syndrome. The New England Journal of Medicine, 332(13), 839–847.PubMed Hamilton, S. R., Liu, B., Parsons, R. E., Papadopoulos, N., Jen, J., Powell, S. M., et al. (1995). The molecular basis of Turcot’s syndrome. The New England Journal of Medicine, 332(13), 839–847.PubMed
go back to reference Hampel, H. (2009). Genetic testing for hereditary colon cancer. Surgical Oncology Clinics of North America, 18, 687–703.PubMed Hampel, H. (2009). Genetic testing for hereditary colon cancer. Surgical Oncology Clinics of North America, 18, 687–703.PubMed
go back to reference Hampel, H., Frankel, W. L., Martin, E., Arnold, M., Khanduja, K., Kuebler, P., et al. (2005a). Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). The New England Journal of Medicine, 352(18), 1851–1860.PubMed Hampel, H., Frankel, W. L., Martin, E., Arnold, M., Khanduja, K., Kuebler, P., et al. (2005a). Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). The New England Journal of Medicine, 352(18), 1851–1860.PubMed
go back to reference Hampel, H., Stephens, J. A., Pukkala, E., Sankila, R., Aaltonen, L. A., Mecklin, J. P., et al. (2005b). Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology, 129(2), 415–421.PubMed Hampel, H., Stephens, J. A., Pukkala, E., Sankila, R., Aaltonen, L. A., Mecklin, J. P., et al. (2005b). Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology, 129(2), 415–421.PubMed
go back to reference Hampel, H., Frankel, W., Panescu, J., Lockman, J., Sotamaa, K., Fix, D., et al. (2006). Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Research, 66(15), 7810–7817.PubMed Hampel, H., Frankel, W., Panescu, J., Lockman, J., Sotamaa, K., Fix, D., et al. (2006). Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Research, 66(15), 7810–7817.PubMed
go back to reference Hampel, H., Panescu, J., Lockman, J., Sotamaa, K., Fix, D., Comeras, I., et al. (2007). Comment on: screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Research, 67(19), 9603.PubMed Hampel, H., Panescu, J., Lockman, J., Sotamaa, K., Fix, D., Comeras, I., et al. (2007). Comment on: screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Research, 67(19), 9603.PubMed
go back to reference Hartmann, A., Zanardo, L., Bocker-Edmonston, T., Blaszyk, H., Dietmaier, W., Stoehr, R., et al. (2002). Frequent microsatellite instability in sporadic tumors of the upper urinary tract. Cancer Research, 62, 6796–6802.PubMed Hartmann, A., Zanardo, L., Bocker-Edmonston, T., Blaszyk, H., Dietmaier, W., Stoehr, R., et al. (2002). Frequent microsatellite instability in sporadic tumors of the upper urinary tract. Cancer Research, 62, 6796–6802.PubMed
go back to reference Hayden, J. D., Martin, I. G., Cawkwell, L., & Quirke, P. (1998). The role of microsatellite instability in gastric carcinoma. Gut, 42, 300–303.PubMed Hayden, J. D., Martin, I. G., Cawkwell, L., & Quirke, P. (1998). The role of microsatellite instability in gastric carcinoma. Gut, 42, 300–303.PubMed
go back to reference Heinimann, K., Scott, R. J., Buerstedde, J. M., Weber, W., Siebold, K., Attenhofer, M., et al. (1999). Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. Cancer, 85(12), 2512–2518.PubMed Heinimann, K., Scott, R. J., Buerstedde, J. M., Weber, W., Siebold, K., Attenhofer, M., et al. (1999). Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. Cancer, 85(12), 2512–2518.PubMed
go back to reference Hendriks, Y. M., Wagner, A., Morreau, H., Menko, F., Stormorken, A., Quehenberger, F., et al. (2004). Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology, 127(1), 17–25.PubMed Hendriks, Y. M., Wagner, A., Morreau, H., Menko, F., Stormorken, A., Quehenberger, F., et al. (2004). Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology, 127(1), 17–25.PubMed
go back to reference Hitchins, M. P., & Ward, R. L. (2009). Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. Journal of Medical Genetics, 46(12), 793–802.PubMed Hitchins, M. P., & Ward, R. L. (2009). Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. Journal of Medical Genetics, 46(12), 793–802.PubMed
go back to reference Hitchins, M. P., Wong, J. J., Suthers, G., Suter, C. M., Martin, D. I., Hawkins, N. J., et al. (2007). Inheritance of a cancer-associated MLH1 germ-line epimutation. The New England Journal of Medicine, 356(7), 697–705.PubMed Hitchins, M. P., Wong, J. J., Suthers, G., Suter, C. M., Martin, D. I., Hawkins, N. J., et al. (2007). Inheritance of a cancer-associated MLH1 germ-line epimutation. The New England Journal of Medicine, 356(7), 697–705.PubMed
go back to reference Horner, M. J., Ries, L. A. G., Krapcho, M., Neyman, N., Aminou, R., Howlader, N., et al. (Eds.). (2009). SEER Cancer Statistics Review, 1975–2006, National Cancer Institute. Bethesda, MD, http://seer.cancer.gov/csr/1975_2006/, based on November 2008 SEER data submission, posted to the SEER web site. Horner, M. J., Ries, L. A. G., Krapcho, M., Neyman, N., Aminou, R., Howlader, N., et al. (Eds.). (2009). SEER Cancer Statistics Review, 1975–2006, National Cancer Institute. Bethesda, MD, http://​seer.​cancer.​gov/​csr/​1975_​2006/​, based on November 2008 SEER data submission, posted to the SEER web site.
go back to reference Iino, H., Simms, L., Young, J., Arnold, J., Winship, I. M., Webb, S. I., et al. (2000). DNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary non-polyposis colorectal cancer. Gut, 47(1), 37–42.PubMed Iino, H., Simms, L., Young, J., Arnold, J., Winship, I. M., Webb, S. I., et al. (2000). DNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary non-polyposis colorectal cancer. Gut, 47(1), 37–42.PubMed
go back to reference Jarvinen, H. J., Aarnio, M., Mustonen, H., Aktan-Collan, K., Aaltonen, L. A., Peltomaki, P., et al. (2000). Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology, 118(5), 829–834.PubMed Jarvinen, H. J., Aarnio, M., Mustonen, H., Aktan-Collan, K., Aaltonen, L. A., Peltomaki, P., et al. (2000). Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology, 118(5), 829–834.PubMed
go back to reference Jass, J. R. (2006). Hereditary non-polyposis colorectal cancer: the rise and fall of a confusing term. World Journal of Gastroenterology, 12(31), 4943–4950.PubMed Jass, J. R. (2006). Hereditary non-polyposis colorectal cancer: the rise and fall of a confusing term. World Journal of Gastroenterology, 12(31), 4943–4950.PubMed
go back to reference Jass, J. R., & Stewart, S. M. (1992). Evolution of hereditary non-polyposis colorectal cancer. Gut, 33(6), 783–786.PubMed Jass, J. R., & Stewart, S. M. (1992). Evolution of hereditary non-polyposis colorectal cancer. Gut, 33(6), 783–786.PubMed
go back to reference Jenkins, M. A., Hayashi, S., O’Shea, A. M., Burgart, L. J., Smyrk, T. C., Shimizu, D., et al. (2007). Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study. Gastroenterology, 133(1), 48–56.PubMed Jenkins, M. A., Hayashi, S., O’Shea, A. M., Burgart, L. J., Smyrk, T. C., Shimizu, D., et al. (2007). Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study. Gastroenterology, 133(1), 48–56.PubMed
go back to reference Jones, S., Chen, W. D., Parmigiani, G., Diehl, F., Beerenwinkel, N., Antal, T., et al. (2008). Comparative lesion sequencing provides insights into tumor evolution. Proceedings of the National Academy of Sciences, 105(11), 4283–4288. Jones, S., Chen, W. D., Parmigiani, G., Diehl, F., Beerenwinkel, N., Antal, T., et al. (2008). Comparative lesion sequencing provides insights into tumor evolution. Proceedings of the National Academy of Sciences, 105(11), 4283–4288.
go back to reference Kadiyska, T. K., Konstantinova, D. V., Atanasov, V. R., Kremensky, I. M., & Mitev, V. I. (2007). Frequency and application of the hot spot BRAF gene mutation (p.V600E) in the diagnostic strategy for hereditary nonpolyposis colorectal cancer. Cancer Detection and Prevention, 31(3), 254–256.PubMed Kadiyska, T. K., Konstantinova, D. V., Atanasov, V. R., Kremensky, I. M., & Mitev, V. I. (2007). Frequency and application of the hot spot BRAF gene mutation (p.V600E) in the diagnostic strategy for hereditary nonpolyposis colorectal cancer. Cancer Detection and Prevention, 31(3), 254–256.PubMed
go back to reference Kastrinos, F., Mukherjee, B., Tayob, N., Wang, F., Sparr, J., Raymond, V. M., et al. (2009). Risk of pancreatic cancer in families with Lynch syndrome. JAMA, 302(16), 1790–1795.PubMed Kastrinos, F., Mukherjee, B., Tayob, N., Wang, F., Sparr, J., Raymond, V. M., et al. (2009). Risk of pancreatic cancer in families with Lynch syndrome. JAMA, 302(16), 1790–1795.PubMed
go back to reference Kawaguchi, M., Yanokura, M., Banno, K., Kobayashi, Y., Kuwabara, Y., Kobayashi, M., et al. (2009). Analysis of a correlation between the BRAF V600E mutation and abnormal DNA mismatch repair in patients with sporadic endometrial cancer. International Journal of Oncology, 34(6), 1541–1547.PubMed Kawaguchi, M., Yanokura, M., Banno, K., Kobayashi, Y., Kuwabara, Y., Kobayashi, M., et al. (2009). Analysis of a correlation between the BRAF V600E mutation and abnormal DNA mismatch repair in patients with sporadic endometrial cancer. International Journal of Oncology, 34(6), 1541–1547.PubMed
go back to reference Kim, H. S., Lee, B. L., Woo, D. K., Bae, S. I., & Kim, W. H. (2001). Assessment of markers for the identification of microsatellite instability phenotype in gastric neoplasms. Cancer Letters, 164, 61–68.PubMed Kim, H. S., Lee, B. L., Woo, D. K., Bae, S. I., & Kim, W. H. (2001). Assessment of markers for the identification of microsatellite instability phenotype in gastric neoplasms. Cancer Letters, 164, 61–68.PubMed
go back to reference Koornstra, J. J., Mourits, M. J. E., Sijmons, R. H., Leliveld, A. M., Hollema, H., & Kleibeuker, J. H. (2009). Management of extracolonic tumours in patients with Lynch syndrome. The Lancet Oncology, 10(4), 400–408.PubMed Koornstra, J. J., Mourits, M. J. E., Sijmons, R. H., Leliveld, A. M., Hollema, H., & Kleibeuker, J. H. (2009). Management of extracolonic tumours in patients with Lynch syndrome. The Lancet Oncology, 10(4), 400–408.PubMed
go back to reference Kovacs, M. E., Papp, J., Szentirmay, Z., Otto, S., & Olah, E. (2009). Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Human Mutation, 30(2), 197–203.PubMed Kovacs, M. E., Papp, J., Szentirmay, Z., Otto, S., & Olah, E. (2009). Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Human Mutation, 30(2), 197–203.PubMed
go back to reference Kuismanen, S. A., Moisio, A. L., Schweizer, P., Truninger, K., Salovaara, R., Arola, J., et al. (2002). Endometrial and colorectal tumors from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability. The American Journal of Pathology, 160(6), 1953–1958.PubMed Kuismanen, S. A., Moisio, A. L., Schweizer, P., Truninger, K., Salovaara, R., Arola, J., et al. (2002). Endometrial and colorectal tumors from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability. The American Journal of Pathology, 160(6), 1953–1958.PubMed
go back to reference Ligtenberg, M. J. L., Kuiper, R. P., Chan, T. L., Goossens, M., Hebeda, K. M., Voorendt, M., et al. (2009). Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1. Nature Genetics, 41(1), 112–117.PubMed Ligtenberg, M. J. L., Kuiper, R. P., Chan, T. L., Goossens, M., Hebeda, K. M., Voorendt, M., et al. (2009). Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1. Nature Genetics, 41(1), 112–117.PubMed
go back to reference Lindor, N. M., Burgart, L. J., Leontovich, O., Goldberg, R. M., Cunningham, J. M., Sargent, D. J., et al. (2002). Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. Journal of Clinical Oncology, 20(4), 1043–1048.PubMed Lindor, N. M., Burgart, L. J., Leontovich, O., Goldberg, R. M., Cunningham, J. M., Sargent, D. J., et al. (2002). Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. Journal of Clinical Oncology, 20(4), 1043–1048.PubMed
go back to reference Lindor, N. M., Rabe, K., Petersen, G. M., Haile, R., Casey, G., Baron, J., et al. (2005). Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA, 293(16), 1979–1985.PubMed Lindor, N. M., Rabe, K., Petersen, G. M., Haile, R., Casey, G., Baron, J., et al. (2005). Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA, 293(16), 1979–1985.PubMed
go back to reference Lindor, N. M., Petersen, G. M., Hadley, D. W., Kinney, A. Y., Miesfeldt, S., Lu, K. H., et al. (2006). Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA, 296(12), 1507–1517.PubMed Lindor, N. M., Petersen, G. M., Hadley, D. W., Kinney, A. Y., Miesfeldt, S., Lu, K. H., et al. (2006). Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA, 296(12), 1507–1517.PubMed
go back to reference Liu, S. R., Zhao, B., Wang, Z. J., Wan, Y. L., & Huang, Y. T. (2004). Clinical features and mismatch repair gene mutation screening in Chinese patients with hereditary nonpolyposis colorectal carcinoma. World Journal of Gastroenterology, 10(18), 2647–2651.PubMed Liu, S. R., Zhao, B., Wang, Z. J., Wan, Y. L., & Huang, Y. T. (2004). Clinical features and mismatch repair gene mutation screening in Chinese patients with hereditary nonpolyposis colorectal carcinoma. World Journal of Gastroenterology, 10(18), 2647–2651.PubMed
go back to reference Loughrey, M. B., Waring, P. M., Tan, A., Trivett, M., Kovalenko, S., Beshay, V., et al. (2007). Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer. Fam Cancer, 6(3), 301–310.PubMed Loughrey, M. B., Waring, P. M., Tan, A., Trivett, M., Kovalenko, S., Beshay, V., et al. (2007). Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer. Fam Cancer, 6(3), 301–310.PubMed
go back to reference Loukola, A., Salovaara, R., Kristo, P., Moisio, A. L., Kaariainen, H., Ahtola, H., et al. (1999). Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer. The American Journal of Pathology, 155(6), 1849–1853.PubMed Loukola, A., Salovaara, R., Kristo, P., Moisio, A. L., Kaariainen, H., Ahtola, H., et al. (1999). Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer. The American Journal of Pathology, 155(6), 1849–1853.PubMed
go back to reference Lu, K. H., Schorge, J. O., Rodabaugh, K. J., Daniels, M. S., Sun, C. C., Soliman, P. T., et al. (2007). Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer. Journal of Clinical Oncology, 25(33), 5158–5164.PubMed Lu, K. H., Schorge, J. O., Rodabaugh, K. J., Daniels, M. S., Sun, C. C., Soliman, P. T., et al. (2007). Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer. Journal of Clinical Oncology, 25(33), 5158–5164.PubMed
go back to reference Lynch, H. T., & Smyrk, T. (1996). Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer, 78(6), 1149–1167.PubMed Lynch, H. T., & Smyrk, T. (1996). Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer, 78(6), 1149–1167.PubMed
go back to reference Lynch, H. T., Harris, R. E., Lynch, P. M., Guirgis, H. A., Lynch, J. F., & Bardawil, W. A. (1977). Role of heredity in multiple primary cancer. Cancer, 40(4 Suppl), 1849–1854.PubMed Lynch, H. T., Harris, R. E., Lynch, P. M., Guirgis, H. A., Lynch, J. F., & Bardawil, W. A. (1977). Role of heredity in multiple primary cancer. Cancer, 40(4 Suppl), 1849–1854.PubMed
go back to reference Lynch, H. T., Coronel, S. M., Okimoto, R., Hampel, H., Sweet, K., Lynch, J. F., et al. (2004). A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. JAMA, 291(6), 718–724.PubMed Lynch, H. T., Coronel, S. M., Okimoto, R., Hampel, H., Sweet, K., Lynch, J. F., et al. (2004). A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. JAMA, 291(6), 718–724.PubMed
go back to reference Maeda, T., Cannom, R. R., Beart, R. W., Jr., & Etzioni, D. A. (2010). Decision model of segmental compared with total abdominal colectomy for colon cancer in hereditary nonpolyposis colorectal cancer. Journal of Clinical Oncology, 28(7), 1175–1180.PubMed Maeda, T., Cannom, R. R., Beart, R. W., Jr., & Etzioni, D. A. (2010). Decision model of segmental compared with total abdominal colectomy for colon cancer in hereditary nonpolyposis colorectal cancer. Journal of Clinical Oncology, 28(7), 1175–1180.PubMed
go back to reference Mecklin, J. P., & Jarvinen, H. J. (1986). Clinical features of colorectal carcinoma in cancer family syndrome. Diseases of the Colon and Rectum, 29(3), 160–164.PubMed Mecklin, J. P., & Jarvinen, H. J. (1986). Clinical features of colorectal carcinoma in cancer family syndrome. Diseases of the Colon and Rectum, 29(3), 160–164.PubMed
go back to reference Miyakura, Y., Sugano, K., Akasu, T., Yoshida, T., Maekawa, M., Saitoh, S., et al. (2004). Extensive but hemiallelic methylation of the hMLH1 promoter region in early-onset sporadic colon cancers with microsatellite instability. Clinical Gastroenterology and Hepatology, 2(2), 147–156.PubMed Miyakura, Y., Sugano, K., Akasu, T., Yoshida, T., Maekawa, M., Saitoh, S., et al. (2004). Extensive but hemiallelic methylation of the hMLH1 promoter region in early-onset sporadic colon cancers with microsatellite instability. Clinical Gastroenterology and Hepatology, 2(2), 147–156.PubMed
go back to reference Muller, W., Burgart, L. J., Krause-Paulus, R., Thibodeau, S. N., Almeida, M., Edmonston, T. B., et al. (2001). The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC)–results of an international collaborative study. Fam Cancer, 1(2), 87–92.PubMed Muller, W., Burgart, L. J., Krause-Paulus, R., Thibodeau, S. N., Almeida, M., Edmonston, T. B., et al. (2001). The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC)–results of an international collaborative study. Fam Cancer, 1(2), 87–92.PubMed
go back to reference Muller, A., Giuffre, G., Edmonston, T. B., Mathiak, M., Roggendorf, B., Heinmoller, E., et al. (2004). Challenges and pitfalls in HNPCC screening by microsatellite analysis and immunohistochemistry. The Journal of Molecular Diagnostics, 6(4), 308–315.PubMed Muller, A., Giuffre, G., Edmonston, T. B., Mathiak, M., Roggendorf, B., Heinmoller, E., et al. (2004). Challenges and pitfalls in HNPCC screening by microsatellite analysis and immunohistochemistry. The Journal of Molecular Diagnostics, 6(4), 308–315.PubMed
go back to reference Muller, A., Beckmann, C., Westphal, G., Bocker Edmonston, T., Friedrichs, N., Dietmaier, W., et al. (2006). Prevalence of the mismatch-repair-deficient phenotype in colonic adenomas arising in HNPCC patients: results of a 5-year follow-up study. International Journal of Colorectal Disease, 21(7), 632–641.PubMed Muller, A., Beckmann, C., Westphal, G., Bocker Edmonston, T., Friedrichs, N., Dietmaier, W., et al. (2006). Prevalence of the mismatch-repair-deficient phenotype in colonic adenomas arising in HNPCC patients: results of a 5-year follow-up study. International Journal of Colorectal Disease, 21(7), 632–641.PubMed
go back to reference Myrhøj, T., Andersen, M. B., & Bernstein, I. (2008). Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer. Familial Cancer, 7(4), 303–307.PubMed Myrhøj, T., Andersen, M. B., & Bernstein, I. (2008). Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer. Familial Cancer, 7(4), 303–307.PubMed
go back to reference Nakagawa, H., Lockman, J. C., Frankel, W. L., Hampel, H., Steenblock, K., Burgart, L. J., et al. (2004). Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Research, 64(14), 4721–4727.PubMed Nakagawa, H., Lockman, J. C., Frankel, W. L., Hampel, H., Steenblock, K., Burgart, L. J., et al. (2004). Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Research, 64(14), 4721–4727.PubMed
go back to reference Niessen, R. C., Kleibeuker, J. H., Westers, H., Jager, P. O., Rozeveld, D., Bos, K. K., et al. (2009). PMS2 involvement in patients suspected of Lynch syndrome. Genes, Chromosomes & Cancer, 48(4), 322–329. Niessen, R. C., Kleibeuker, J. H., Westers, H., Jager, P. O., Rozeveld, D., Bos, K. K., et al. (2009). PMS2 involvement in patients suspected of Lynch syndrome. Genes, Chromosomes & Cancer, 48(4), 322–329.
go back to reference Nystrom-Lahti, M., Wu, Y., Moisio, A. L., Hofstra, R. M., Osinga, J., Mecklin, J. P., et al. (1996). DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Human Molecular Genetics, 5(6), 763–769.PubMed Nystrom-Lahti, M., Wu, Y., Moisio, A. L., Hofstra, R. M., Osinga, J., Mecklin, J. P., et al. (1996). DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Human Molecular Genetics, 5(6), 763–769.PubMed
go back to reference Offit, K. (2004). MSH6 mutations in hereditary nonpolyposis colon cancer: another slice of the pie. Journal of Clinical Oncology, 22(22), 4449–4451.PubMed Offit, K. (2004). MSH6 mutations in hereditary nonpolyposis colon cancer: another slice of the pie. Journal of Clinical Oncology, 22(22), 4449–4451.PubMed
go back to reference Ollila, S., Fitzpatrick, R., Sarantaus, L., Kariola, R., Ambus, I., Velsher, L., et al. (2006). The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC. International Journal of Oncology, 28(1), 149–153.PubMed Ollila, S., Fitzpatrick, R., Sarantaus, L., Kariola, R., Ambus, I., Velsher, L., et al. (2006). The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC. International Journal of Oncology, 28(1), 149–153.PubMed
go back to reference Orta, L., Klimstra, D. S., Qin, J., Mecca, P., Tang, L. H., Busam, K. J., et al. (2009). Towards identification of hereditary DNA mismatch repair deficiency: sebaceous neoplasm warrants routine immunohistochemical screening regardless of patient’s age or other clinical characteristics. The American Journal of Surgical Pathology, 33(6), 934–944.PubMed Orta, L., Klimstra, D. S., Qin, J., Mecca, P., Tang, L. H., Busam, K. J., et al. (2009). Towards identification of hereditary DNA mismatch repair deficiency: sebaceous neoplasm warrants routine immunohistochemical screening regardless of patient’s age or other clinical characteristics. The American Journal of Surgical Pathology, 33(6), 934–944.PubMed
go back to reference Pal, T., Permuth-Way, J., Kumar, A., & Sellers, T. A. (2008). Systematic review and meta-analysis of ovarian cancers: estimation of microsatellite-high frequency and characterization of mismatch repair deficient tumor histology. Clinical Cancer Research, 14(21), 6847–6854.PubMed Pal, T., Permuth-Way, J., Kumar, A., & Sellers, T. A. (2008). Systematic review and meta-analysis of ovarian cancers: estimation of microsatellite-high frequency and characterization of mismatch repair deficient tumor histology. Clinical Cancer Research, 14(21), 6847–6854.PubMed
go back to reference Palomaki, G. E., McClain, M. R., Melillo, S., Hampel, H., & Thibodeau, S. N. (2009). EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genetics in Medicine, 11(1), 42–65.PubMed Palomaki, G. E., McClain, M. R., Melillo, S., Hampel, H., & Thibodeau, S. N. (2009). EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genetics in Medicine, 11(1), 42–65.PubMed
go back to reference Park, Y. J., Shin, K. H., & Park, J. G. (2000). Risk of gastric cancer in hereditary nonpolyposis colorectal cancer in Korea. Clinical Cancer Research, 6(8), 2994–2998.PubMed Park, Y. J., Shin, K. H., & Park, J. G. (2000). Risk of gastric cancer in hereditary nonpolyposis colorectal cancer in Korea. Clinical Cancer Research, 6(8), 2994–2998.PubMed
go back to reference Peltomaki, P., & Vasen, H. (2004). Mutations associated with HNPCC predisposition—Update of ICG-HNPCC/INSiGHT mutation database. Disease Markers, 20(4–5), 269–276.PubMed Peltomaki, P., & Vasen, H. (2004). Mutations associated with HNPCC predisposition—Update of ICG-HNPCC/INSiGHT mutation database. Disease Markers, 20(4–5), 269–276.PubMed
go back to reference Plaschke, J., Engel, C., Kruger, S., Holinski-Feder, E., Pagenstecher, C., Mangold, E., et al. (2004). Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German hereditary nonpolyposis colorectal cancer consortium. Journal of Clinical Oncology, 22(22), 4486–4494.PubMed Plaschke, J., Engel, C., Kruger, S., Holinski-Feder, E., Pagenstecher, C., Mangold, E., et al. (2004). Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German hereditary nonpolyposis colorectal cancer consortium. Journal of Clinical Oncology, 22(22), 4486–4494.PubMed
go back to reference Ponti, G., Losi, L., Pedroni, M., Lucci-Cordisco, E., Di Gregorio, C., Pellacani, G., et al. (2006). Value of MLH1 and MSH2 Mutations in the Appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. Journal of Investigative Dermatology, 126(10), 2302–2307.PubMed Ponti, G., Losi, L., Pedroni, M., Lucci-Cordisco, E., Di Gregorio, C., Pellacani, G., et al. (2006). Value of MLH1 and MSH2 Mutations in the Appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. Journal of Investigative Dermatology, 126(10), 2302–2307.PubMed
go back to reference Popat, S., Hubner, R., & Houlston, R. S. (2005). Systematic review of microsatellite instability and colorectal cancer prognosis. Journal of Clinical Oncology, 23(3), 609–618.PubMed Popat, S., Hubner, R., & Houlston, R. S. (2005). Systematic review of microsatellite instability and colorectal cancer prognosis. Journal of Clinical Oncology, 23(3), 609–618.PubMed
go back to reference Rahner, N., Hoefler, G., Hogenauer, C., Lackner, C., Steinke, V., Sengteller, M., et al. (2008). Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus. American Journal of Medical Genetics. Part A, 146A(10), 1314–1319.PubMed Rahner, N., Hoefler, G., Hogenauer, C., Lackner, C., Steinke, V., Sengteller, M., et al. (2008). Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus. American Journal of Medical Genetics. Part A, 146A(10), 1314–1319.PubMed
go back to reference Renkonen-Sinisalo, L., Sipponen, P., Aarnio, M., Julkunen, R., Aaltonen, L. A., Sarna, S., et al. (2002). No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer. Scandinavian Journal of Gastroenterology, 37(5), 574–577.PubMed Renkonen-Sinisalo, L., Sipponen, P., Aarnio, M., Julkunen, R., Aaltonen, L. A., Sarna, S., et al. (2002). No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer. Scandinavian Journal of Gastroenterology, 37(5), 574–577.PubMed
go back to reference Renkonen-Sinisalo, L., Butzow, R., Leminen, A., Lehtovirta, P., Mecklin, J. P., & Jarvinen, H. J. (2007). Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome. International Journal of Cancer, 120(4), 821–824. Renkonen-Sinisalo, L., Butzow, R., Leminen, A., Lehtovirta, P., Mecklin, J. P., & Jarvinen, H. J. (2007). Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome. International Journal of Cancer, 120(4), 821–824.
go back to reference Rijcken, F. E., Hollema, H., & Kleibeuker, J. H. (2002). Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformation. Gut, 50(3), 382–386.PubMed Rijcken, F. E., Hollema, H., & Kleibeuker, J. H. (2002). Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformation. Gut, 50(3), 382–386.PubMed
go back to reference Rijcken, F. E., Mourits, M. J., Kleibeuker, J. H., Hollema, H., & van der Zee, A. G. (2003). Gynecologic screening in hereditary nonpolyposis colorectal cancer. Gynecologic Oncology, 91(1), 74–80.PubMed Rijcken, F. E., Mourits, M. J., Kleibeuker, J. H., Hollema, H., & van der Zee, A. G. (2003). Gynecologic screening in hereditary nonpolyposis colorectal cancer. Gynecologic Oncology, 91(1), 74–80.PubMed
go back to reference Rodriguez-Bigas, M. A., Boland, C. R., Hamilton, S. R., Henson, D. E., Jass, J. R., Khan, P. M., et al. (1997). A national cancer institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. Journal of the National Cancer Institute, 89(23), 1758–1762.PubMed Rodriguez-Bigas, M. A., Boland, C. R., Hamilton, S. R., Henson, D. E., Jass, J. R., Khan, P. M., et al. (1997). A national cancer institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. Journal of the National Cancer Institute, 89(23), 1758–1762.PubMed
go back to reference Roupret, M., Catto, J., Coulet, F., Azzouzi, A. R., Amira, N., Karmouni, T., et al. (2004). Micorsatellite instability as indicator of MSH2 gene mutation in patients with upper urinary tract transitional cell carcinoma. Journal of Medical Genetics, 41, e91.PubMed Roupret, M., Catto, J., Coulet, F., Azzouzi, A. R., Amira, N., Karmouni, T., et al. (2004). Micorsatellite instability as indicator of MSH2 gene mutation in patients with upper urinary tract transitional cell carcinoma. Journal of Medical Genetics, 41, e91.PubMed
go back to reference Ruszkiewicz, A., Bennett, G., Moore, J., Manavis, J., Rudzki, B., Shen, L., et al. (2002). Correlation of mismatch repair genes immunohistochemistry and microsatellite instability status in HNPCC-associated tumours. Pathology, 34(6), 541–547.PubMed Ruszkiewicz, A., Bennett, G., Moore, J., Manavis, J., Rudzki, B., Shen, L., et al. (2002). Correlation of mismatch repair genes immunohistochemistry and microsatellite instability status in HNPCC-associated tumours. Pathology, 34(6), 541–547.PubMed
go back to reference Sankila, R., Aaltonen, L. A., Jarvinen, H. J., & Mecklin, J. P. (1996). Better survival rates in patients with MLH1-associated hereditary colorectal cancer. Gastroenterology, 110(3), 682–687.PubMed Sankila, R., Aaltonen, L. A., Jarvinen, H. J., & Mecklin, J. P. (1996). Better survival rates in patients with MLH1-associated hereditary colorectal cancer. Gastroenterology, 110(3), 682–687.PubMed
go back to reference Schmeler, K. M., Lynch, H. T., Chen, L. M., Munsell, M. F., Soliman, P. T., Clark, M. B., et al. (2006). Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. The New England Journal of Medicine, 354(3), 261–269.PubMed Schmeler, K. M., Lynch, H. T., Chen, L. M., Munsell, M. F., Soliman, P. T., Clark, M. B., et al. (2006). Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. The New England Journal of Medicine, 354(3), 261–269.PubMed
go back to reference Senter, L., Clendenning, M., Sotamaa, K., Hampel, H., Green, J., Potter, J. D., et al. (2008). The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology, 135(2), 419–428.PubMed Senter, L., Clendenning, M., Sotamaa, K., Hampel, H., Green, J., Potter, J. D., et al. (2008). The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology, 135(2), 419–428.PubMed
go back to reference Simpson, A. J. G., Caballero, O. L., & Pena, S. D. J. (2001). Microsatellite instability as a tool for the classification of gastric cancer. Trends in Molecular Medicine, 7(2), 76–80.PubMed Simpson, A. J. G., Caballero, O. L., & Pena, S. D. J. (2001). Microsatellite instability as a tool for the classification of gastric cancer. Trends in Molecular Medicine, 7(2), 76–80.PubMed
go back to reference Singer, G., Kallinowski, T., Hartmann, A., Dietmaier, W., Wild, P. J., Schraml, P., et al. (2004). Different types of microsatellite instability in ovarian carcinoma. International Journal of Cancer, 112(4), 643–646. Singer, G., Kallinowski, T., Hartmann, A., Dietmaier, W., Wild, P. J., Schraml, P., et al. (2004). Different types of microsatellite instability in ovarian carcinoma. International Journal of Cancer, 112(4), 643–646.
go back to reference Singh, R. S., Grayson, W., Redston, M., Diwan, A. H., Warneke, C. L., McKee, P. H., et al. (2008). Site and tumor type predicts DNA mismatch repair status in cutaneous sebaceous neoplasia. The American Journal of Surgical Pathology, 32(6), 936–942.PubMed Singh, R. S., Grayson, W., Redston, M., Diwan, A. H., Warneke, C. L., McKee, P. H., et al. (2008). Site and tumor type predicts DNA mismatch repair status in cutaneous sebaceous neoplasia. The American Journal of Surgical Pathology, 32(6), 936–942.PubMed
go back to reference South, C. D., Hampel, H., Comeras, I., Westman, J. A., Frankel, W. L., & de la Chapelle, A. (2008). The frequency of Muir-Torre syndrome among Lynch syndrome families. Journal of the National Cancer Institute, 100(4), 277–281.PubMed South, C. D., Hampel, H., Comeras, I., Westman, J. A., Frankel, W. L., & de la Chapelle, A. (2008). The frequency of Muir-Torre syndrome among Lynch syndrome families. Journal of the National Cancer Institute, 100(4), 277–281.PubMed
go back to reference South, C. D., Yearsley, M., Martin, E., Arnold, M., Frankel, W., & Hampel, H. (2009). Immunohistochemistry staining for the mismatch repair proteins in the clinical care of patients with colorectal cancer. Genetics in Medicine, 11(11), 812–817.PubMed South, C. D., Yearsley, M., Martin, E., Arnold, M., Frankel, W., & Hampel, H. (2009). Immunohistochemistry staining for the mismatch repair proteins in the clinical care of patients with colorectal cancer. Genetics in Medicine, 11(11), 812–817.PubMed
go back to reference Stoffel, E. M., & Syngal, S. (2005). Adenomas in young patients: what is the optimal evaluation? The American Journal of Gastroenterology, 100(5), 1150–1153.PubMed Stoffel, E. M., & Syngal, S. (2005). Adenomas in young patients: what is the optimal evaluation? The American Journal of Gastroenterology, 100(5), 1150–1153.PubMed
go back to reference Stoffel, E., Mukherjee, B., Raymond, V. M., Tayob, N., Kastrinos, F., Sparr, J., et al. (2009). Calculation of risk of colorectal and endometrial cancer among patients with lynch syndrome. Gastroenterology, 137(5), 1621–1627.PubMed Stoffel, E., Mukherjee, B., Raymond, V. M., Tayob, N., Kastrinos, F., Sparr, J., et al. (2009). Calculation of risk of colorectal and endometrial cancer among patients with lynch syndrome. Gastroenterology, 137(5), 1621–1627.PubMed
go back to reference Suter, C. M., Martin, D. I., & Ward, R. L. (2004). Germline epimutation of MLH1 in individuals with multiple cancers. Nature Genetics, 36(5), 497–501.PubMed Suter, C. M., Martin, D. I., & Ward, R. L. (2004). Germline epimutation of MLH1 in individuals with multiple cancers. Nature Genetics, 36(5), 497–501.PubMed
go back to reference Syngal, S., Fox, E. A., Eng, C., Kolodner, R. D., & Garber, J. E. (2000). Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1. Journal of Medical Genetics, 37(9), 641–645.PubMed Syngal, S., Fox, E. A., Eng, C., Kolodner, R. D., & Garber, J. E. (2000). Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1. Journal of Medical Genetics, 37(9), 641–645.PubMed
go back to reference Tan, T. Y., Orme, L. M., Lynch, E., Croxford, M. A., Dow, C., Dewan, P. A., et al. (2008). Biallelic PMS2 mutations and a distinctive childhood cancer syndrome. Journal of Pediatric Hematology/Oncology, 30(3), 254–257.PubMed Tan, T. Y., Orme, L. M., Lynch, E., Croxford, M. A., Dow, C., Dewan, P. A., et al. (2008). Biallelic PMS2 mutations and a distinctive childhood cancer syndrome. Journal of Pediatric Hematology/Oncology, 30(3), 254–257.PubMed
go back to reference The Cancer and Steroid Hormone Study of the Centers for Disease Control and the National Institute of Child Health and Human Development (1987a). Combination oral contraceptive use and the risk of endometrial cancer. JAMA, 257(6), 796–800. The Cancer and Steroid Hormone Study of the Centers for Disease Control and the National Institute of Child Health and Human Development (1987a). Combination oral contraceptive use and the risk of endometrial cancer. JAMA, 257(6), 796–800.
go back to reference The Cancer and Steroid Hormone Study of the Centers for Disease Control and the National Institute of Child Health and Human Development (1987b). The reduction in risk of ovarian cancer associated with oral-contraceptive use. The New England Journal of Medicine, 316(11), 650–655. The Cancer and Steroid Hormone Study of the Centers for Disease Control and the National Institute of Child Health and Human Development (1987b). The reduction in risk of ovarian cancer associated with oral-contraceptive use. The New England Journal of Medicine, 316(11), 650–655.
go back to reference The NCCN Clinical Practice Guidelines in Oncology™ Colorectal Cancer Screening (Version I. 2010). © 2009 National Comprehensive Cancer Network, Inc. Available at: http://www.nccn.org. Accessed January 19, 2010. To view the most recent and complete version of the NCCN Guidelines, go online to http://www.nccn.org. The NCCN Clinical Practice Guidelines in Oncology™ Colorectal Cancer Screening (Version I. 2010). © 2009 National Comprehensive Cancer Network, Inc. Available at: http://​www.​nccn.​org. Accessed January 19, 2010. To view the most recent and complete version of the NCCN Guidelines, go online to http://​www.​nccn.​org.
go back to reference Truninger, K., Menigatti, M., Luz, J., Russell, A., Haider, R., Gebbers, J.-O., et al. (2005). Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. Gastroenterology, 128(5), 1160–1171.PubMed Truninger, K., Menigatti, M., Luz, J., Russell, A., Haider, R., Gebbers, J.-O., et al. (2005). Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. Gastroenterology, 128(5), 1160–1171.PubMed
go back to reference Umar, A., Boland, C. R., Terdiman, J. P., Syngal, S., de la Chapelle, A., Ruschoff, J., et al. (2004). Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. Journal of the National Cancer Institute, 96(4), 261–268.PubMed Umar, A., Boland, C. R., Terdiman, J. P., Syngal, S., de la Chapelle, A., Ruschoff, J., et al. (2004). Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. Journal of the National Cancer Institute, 96(4), 261–268.PubMed
go back to reference van der Post, R. S., Kiemeney, L. A., Ligtenberg, M. J., Witjes, J. A., Hulsbergen-van de Kaa, C. A., Bodmer, D., et al. (2010). Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. Journal of Medical Genetics, 47(7), 464–470.PubMed van der Post, R. S., Kiemeney, L. A., Ligtenberg, M. J., Witjes, J. A., Hulsbergen-van de Kaa, C. A., Bodmer, D., et al. (2010). Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. Journal of Medical Genetics, 47(7), 464–470.PubMed
go back to reference Vasen, H. F., Mecklin, J. P., Khan, P. M., & Lynch, H. T. (1991). The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Diseases of the Colon and Rectum, 34(5), 424–425.PubMed Vasen, H. F., Mecklin, J. P., Khan, P. M., & Lynch, H. T. (1991). The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Diseases of the Colon and Rectum, 34(5), 424–425.PubMed
go back to reference Vasen, H. F., Watson, P., Mecklin, J. P., Jass, J. R., Green, J. S., Nomizu, T., et al. (1994). The epidemiology of endometrial cancer in hereditary nonpolyposis colorectal cancer. Anticancer Research, 14(4B), 1675–1678.PubMed Vasen, H. F., Watson, P., Mecklin, J. P., Jass, J. R., Green, J. S., Nomizu, T., et al. (1994). The epidemiology of endometrial cancer in hereditary nonpolyposis colorectal cancer. Anticancer Research, 14(4B), 1675–1678.PubMed
go back to reference Vasen, H. F., Nagengast, F. M., & Khan, P. M. (1995). Interval cancers in hereditary non-polyposis colorectal cancer (Lynch syndrome). Lancet, 345(8958), 1183–1184.PubMed Vasen, H. F., Nagengast, F. M., & Khan, P. M. (1995). Interval cancers in hereditary non-polyposis colorectal cancer (Lynch syndrome). Lancet, 345(8958), 1183–1184.PubMed
go back to reference Vasen, H. F., Watson, P., Mecklin, J. P., & Lynch, H. T. (1999). New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology, 116(6), 1453–1456.PubMed Vasen, H. F., Watson, P., Mecklin, J. P., & Lynch, H. T. (1999). New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology, 116(6), 1453–1456.PubMed
go back to reference Vasen, H. F., Moslein, G., Alonso, A., Bernstein, I., Bertario, L., Blanco, I., et al. (2007). Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). Journal of Medical Genetics, 44(6), 353–362.PubMed Vasen, H. F., Moslein, G., Alonso, A., Bernstein, I., Bertario, L., Blanco, I., et al. (2007). Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). Journal of Medical Genetics, 44(6), 353–362.PubMed
go back to reference Velayos, F. S., Allen, B. A., Conrad, P. G., Gum, J., Jr., Kakar, S., Chung, D. C., et al. (2005). Low rate of microsatellite instability in young patients with adenomas: reassessing the Bethesda guidelines. The American Journal of Gastroenterology, 100(5), 1143–1149.PubMed Velayos, F. S., Allen, B. A., Conrad, P. G., Gum, J., Jr., Kakar, S., Chung, D. C., et al. (2005). Low rate of microsatellite instability in young patients with adenomas: reassessing the Bethesda guidelines. The American Journal of Gastroenterology, 100(5), 1143–1149.PubMed
go back to reference Wagner, A., Barrows, A., Wijnen, J. T., van der Klift, H., Franken, P. F., Verkuijlen, P., et al. (2003). Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. American Journal of Human Genetics, 72(5), 1088–1100.PubMed Wagner, A., Barrows, A., Wijnen, J. T., van der Klift, H., Franken, P. F., Verkuijlen, P., et al. (2003). Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. American Journal of Human Genetics, 72(5), 1088–1100.PubMed
go back to reference Wang, L., Cunningham, J. M., Winters, J. L., Guenther, J. C., French, A. J., Boardman, L. A., et al. (2003). BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair. Cancer Research, 63(17), 5209–5212.PubMed Wang, L., Cunningham, J. M., Winters, J. L., Guenther, J. C., French, A. J., Boardman, L. A., et al. (2003). BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair. Cancer Research, 63(17), 5209–5212.PubMed
go back to reference Watson, P., Vasen, H. F., Mecklin, J. P., Bernstein, I., Aarnio, M., Jarvinen, H. J., et al. (2008). The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. International Journal of Cancer, 123(2), 444–449. Watson, P., Vasen, H. F., Mecklin, J. P., Bernstein, I., Aarnio, M., Jarvinen, H. J., et al. (2008). The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. International Journal of Cancer, 123(2), 444–449.
go back to reference Whelan, A. J., Babb, S., Mutch, D. G., Rader, J., Herzog, T. J., Todd, C., et al. (2002). MSI in endometrial carcinoma: absence of MLH1 promoter methylation is associated with increased familial risk for cancers. International Journal of Cancer, 99(5), 697–704. Whelan, A. J., Babb, S., Mutch, D. G., Rader, J., Herzog, T. J., Todd, C., et al. (2002). MSI in endometrial carcinoma: absence of MLH1 promoter methylation is associated with increased familial risk for cancers. International Journal of Cancer, 99(5), 697–704.
go back to reference Wijnen, J., van der Klift, H., Vasen, H., Khan, P. M., Menko, F., Tops, C., et al. (1998a). MSH2 genomic deletions are a frequent cause of HNPCC. Nature Genetics, 20(4), 326–328.PubMed Wijnen, J., van der Klift, H., Vasen, H., Khan, P. M., Menko, F., Tops, C., et al. (1998a). MSH2 genomic deletions are a frequent cause of HNPCC. Nature Genetics, 20(4), 326–328.PubMed
go back to reference Wijnen, J. T., Vasen, H. F., Khan, P. M., Zwinderman, A. H., van der Klift, H., Mulder, A., et al. (1998b). Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. The New England Journal of Medicine, 339(8), 511–518.PubMed Wijnen, J. T., Vasen, H. F., Khan, P. M., Zwinderman, A. H., van der Klift, H., Mulder, A., et al. (1998b). Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. The New England Journal of Medicine, 339(8), 511–518.PubMed
go back to reference Wijnen, J., de Leeuw, W., Vasen, H., van der Klift, H., Moller, P., Stormorken, A., et al. (1999). Familial endometrial cancer in female carriers of MSH6 germline mutations. Nature Genetics, 23(2), 142–144.PubMed Wijnen, J., de Leeuw, W., Vasen, H., van der Klift, H., Moller, P., Stormorken, A., et al. (1999). Familial endometrial cancer in female carriers of MSH6 germline mutations. Nature Genetics, 23(2), 142–144.PubMed
go back to reference Winawer, S. J., Zauber, A. G., Ho, M. N., O’Brien, M. J., Gottlieb, L. S., Sternberg, S. S., et al. (1993). Prevention of colorectal cancer by colonoscopic polypectomy. NEJM, 329(27), 1977–1981.PubMed Winawer, S. J., Zauber, A. G., Ho, M. N., O’Brien, M. J., Gottlieb, L. S., Sternberg, S. S., et al. (1993). Prevention of colorectal cancer by colonoscopic polypectomy. NEJM, 329(27), 1977–1981.PubMed
go back to reference Zighelboim, I., Powell, M., Babb, S., Whelan, A., Schmidt, A., Clendenning, M., et al. (2009). Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for lynch syndrome. Familial Cancer, 8(4), 501–504.PubMed Zighelboim, I., Powell, M., Babb, S., Whelan, A., Schmidt, A., Clendenning, M., et al. (2009). Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for lynch syndrome. Familial Cancer, 8(4), 501–504.PubMed
Metadata
Title
Genetic Counseling Considerations in the Evaluation of Families for Lynch Syndrome—A Review
Authors
Scott M. Weissman
Cecelia Bellcross
Christina Chimera Bittner
Mary E. Freivogel
Joy Larsen Haidle
Pardeep Kaurah
Anna Leininger
Selvi Palaniappan
Kelle Steenblock
Thuy M. Vu
Molly S. Daniels
Publication date
01-02-2011
Publisher
Springer US
Published in
Journal of Genetic Counseling / Issue 1/2011
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI
https://doi.org/10.1007/s10897-010-9325-x

Other articles of this Issue 1/2011

Journal of Genetic Counseling 1/2011 Go to the issue