Skip to main content
Top
Published in: Journal of Hematology & Oncology 1/2013

Open Access 01-12-2013 | Commentary

Lynch syndrome related endometrial cancer: clinical significance beyond the endometrium

Authors: Yiying Wang, Yue Wang, Jie Li, Janiel Cragun, Kenneth Hatch, Setsuko K Chambers, Wenxin Zheng

Published in: Journal of Hematology & Oncology | Issue 1/2013

Login to get access

Abstract

Lynch syndrome (LS), an autosomal dominant inherited cancer susceptibility syndrome, also known as hereditary non-polyposis colon cancer (HNPCC), is caused by a germline mutation in one of several DNA mismatch repair (MMR) genes. LS is the most common presentation of hereditary colorectal cancer (CRC), accounting for about 2–5% of all CRC cases. More recently, it is found that a similar number of endometrial cancers is also due to one of the MMR gene mutations. There has been significant progress in LS-related CRC in terms of molecular pathogenesis, risks, genetic basis, and cancer prevention. In contrast, the advance about LS-related endometrial cancer (EC) is very much limited. In this commentary, we summarize the main clinicopathologic features of LS-related EC and propose universal screening for LS in individuals with endometrial cancer.
Appendix
Available only for authorised users
Literature
1.
go back to reference Aaltonen L, Johns L, Jarvinen H, Mecklin JP, Houlston R: Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors. Clin Cancer Res. 2007, 13: 356-361. 10.1158/1078-0432.CCR-06-1256.CrossRefPubMed Aaltonen L, Johns L, Jarvinen H, Mecklin JP, Houlston R: Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors. Clin Cancer Res. 2007, 13: 356-361. 10.1158/1078-0432.CCR-06-1256.CrossRefPubMed
2.
go back to reference Lynch HT, de la Chapelle A: Hereditary colorectal cancer. N Engl J Med. 2003, 348: 919-932. 10.1056/NEJMra012242.CrossRefPubMed Lynch HT, de la Chapelle A: Hereditary colorectal cancer. N Engl J Med. 2003, 348: 919-932. 10.1056/NEJMra012242.CrossRefPubMed
3.
go back to reference Geiersbach KB, Samowitz WS: Microsatellite instability and colorectal cancer. Arch Pathol Lab Med. 2011, 135: 1269-1277. 10.5858/arpa.2011-0035-RA.CrossRefPubMed Geiersbach KB, Samowitz WS: Microsatellite instability and colorectal cancer. Arch Pathol Lab Med. 2011, 135: 1269-1277. 10.5858/arpa.2011-0035-RA.CrossRefPubMed
4.
go back to reference Lu KH, Dinh M, Kohlmann W, Watson P, Green J, Syngal S, Bandipalliam P, Chen LM, Allen B, Conrad P, Terdiman J, Sun C, Daniels M, Burke T, Gershenson DM, Lynch H, Lynch P, Broaddus RR: Gynecologic cancer as a “sentinel cancer” for women with hereditary nonpolyposis colorectal cancer syndrome. Obstet Gynecol. 2005, 105: 569-574. 10.1097/01.AOG.0000154885.44002.ae.CrossRefPubMed Lu KH, Dinh M, Kohlmann W, Watson P, Green J, Syngal S, Bandipalliam P, Chen LM, Allen B, Conrad P, Terdiman J, Sun C, Daniels M, Burke T, Gershenson DM, Lynch H, Lynch P, Broaddus RR: Gynecologic cancer as a “sentinel cancer” for women with hereditary nonpolyposis colorectal cancer syndrome. Obstet Gynecol. 2005, 105: 569-574. 10.1097/01.AOG.0000154885.44002.ae.CrossRefPubMed
5.
go back to reference Banno K, Yanokura M, Kobayashi Y, Kawaguchi M, Nomura H, Hirasawa A, Susumu N, Aoki D: Endometrial cancer as a familial tumor: pathology and molecular carcinogenesis (review). Curr Genomics. 2009, 10: 127-132. 10.2174/138920209787847069.PubMedCentralCrossRefPubMed Banno K, Yanokura M, Kobayashi Y, Kawaguchi M, Nomura H, Hirasawa A, Susumu N, Aoki D: Endometrial cancer as a familial tumor: pathology and molecular carcinogenesis (review). Curr Genomics. 2009, 10: 127-132. 10.2174/138920209787847069.PubMedCentralCrossRefPubMed
6.
go back to reference Bonadona V, Bonaiti B, Olschwang S, Grandjouan S, Huiart L, Longy M, Guimbaud R, Buecher B, Bignon YJ, Caron O, Colas C, Nogues C, Lejeune-Dumoulin S, Olivier-Faivre L, Polycarpe-Osaer F, Nguyen TD, Desseigne F, Saurin JC, Berthet P, Leroux D, Duffour J, Manouvrier S, Frebourg T, Sobol H, Lasset C, Bonaiti-Pellie C: Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. 2011, 305: 2304-2310. 10.1001/jama.2011.743.CrossRefPubMed Bonadona V, Bonaiti B, Olschwang S, Grandjouan S, Huiart L, Longy M, Guimbaud R, Buecher B, Bignon YJ, Caron O, Colas C, Nogues C, Lejeune-Dumoulin S, Olivier-Faivre L, Polycarpe-Osaer F, Nguyen TD, Desseigne F, Saurin JC, Berthet P, Leroux D, Duffour J, Manouvrier S, Frebourg T, Sobol H, Lasset C, Bonaiti-Pellie C: Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. 2011, 305: 2304-2310. 10.1001/jama.2011.743.CrossRefPubMed
7.
go back to reference Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, La Jeunesse J, Nakagawa H, Westman JA, Prior TW, Clendenning M, Penzone P, Lombardi J, Dunn P, Cohn DE, Copeland L, Eaton L, Fowler J, Lewandowski G, Vaccarello L, Bell J, Reid G, de la Chapelle A: Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2006, 66: 7810-7817. 10.1158/0008-5472.CAN-06-1114.CrossRefPubMed Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, La Jeunesse J, Nakagawa H, Westman JA, Prior TW, Clendenning M, Penzone P, Lombardi J, Dunn P, Cohn DE, Copeland L, Eaton L, Fowler J, Lewandowski G, Vaccarello L, Bell J, Reid G, de la Chapelle A: Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2006, 66: 7810-7817. 10.1158/0008-5472.CAN-06-1114.CrossRefPubMed
8.
go back to reference Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, Young J, Winship I, Dowty JG, White DM, Hopper JL, Baglietto L, Jenkins MA, de la Chapelle A: The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008, 135: 419-428. 10.1053/j.gastro.2008.04.026.PubMedCentralCrossRefPubMed Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, Young J, Winship I, Dowty JG, White DM, Hopper JL, Baglietto L, Jenkins MA, de la Chapelle A: The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008, 135: 419-428. 10.1053/j.gastro.2008.04.026.PubMedCentralCrossRefPubMed
9.
go back to reference Jass JR, Cottier DS, Jeevaratnam P, Pokos V, Holdaway KM, Bowden ML, Van de Water NS, Browett PJ: Diagnostic use of microsatellite instability in hereditary non-polyposis colorectal cancer. Lancet. 1995, 346: 1200-1201. 10.1016/S0140-6736(95)92902-9.CrossRefPubMed Jass JR, Cottier DS, Jeevaratnam P, Pokos V, Holdaway KM, Bowden ML, Van de Water NS, Browett PJ: Diagnostic use of microsatellite instability in hereditary non-polyposis colorectal cancer. Lancet. 1995, 346: 1200-1201. 10.1016/S0140-6736(95)92902-9.CrossRefPubMed
10.
go back to reference Peltomaki P: Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol. 2003, 21: 1174-1179. 10.1200/JCO.2003.04.060.CrossRefPubMed Peltomaki P: Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol. 2003, 21: 1174-1179. 10.1200/JCO.2003.04.060.CrossRefPubMed
11.
go back to reference Peltomaki P, Vasen H: Mutations associated with HNPCC predisposition – Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers. 2004, 20: 269-276.PubMedCentralCrossRefPubMed Peltomaki P, Vasen H: Mutations associated with HNPCC predisposition – Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers. 2004, 20: 269-276.PubMedCentralCrossRefPubMed
12.
go back to reference Hendriks YM, Wagner A, Morreau H, Menko F, Stormorken A, Quehenberger F, Sandkuijl L, Moller P, Genuardi M, Van Houwelingen H, Tops C, Van Puijenbroek M, Verkuijlen P, Kenter G, Van Mil A, Meijers-Heijboer H, Tan GB, Breuning MH, Fodde R, Wijnen JT, Brocker-Vriends AH, Vasen H: Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology. 2004, 127: 17-25. 10.1053/j.gastro.2004.03.068.CrossRefPubMed Hendriks YM, Wagner A, Morreau H, Menko F, Stormorken A, Quehenberger F, Sandkuijl L, Moller P, Genuardi M, Van Houwelingen H, Tops C, Van Puijenbroek M, Verkuijlen P, Kenter G, Van Mil A, Meijers-Heijboer H, Tan GB, Breuning MH, Fodde R, Wijnen JT, Brocker-Vriends AH, Vasen H: Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology. 2004, 127: 17-25. 10.1053/j.gastro.2004.03.068.CrossRefPubMed
13.
go back to reference Dunlop MG, Farrington SM, Carothers AD, Wyllie AH, Sharp L, Burn J, Liu B, Kinzler KW, Vogelstein B: Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet. 1997, 6: 105-110. 10.1093/hmg/6.1.105.CrossRefPubMed Dunlop MG, Farrington SM, Carothers AD, Wyllie AH, Sharp L, Burn J, Liu B, Kinzler KW, Vogelstein B: Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet. 1997, 6: 105-110. 10.1093/hmg/6.1.105.CrossRefPubMed
14.
go back to reference Aarnio M, Mecklin JP, Aaltonen LA, Nystrom-Lahti M, Jarvinen HJ: Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer. 1995, 64: 430-433. 10.1002/ijc.2910640613.CrossRefPubMed Aarnio M, Mecklin JP, Aaltonen LA, Nystrom-Lahti M, Jarvinen HJ: Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer. 1995, 64: 430-433. 10.1002/ijc.2910640613.CrossRefPubMed
15.
go back to reference Lu KH, Schorge JO, Rodabaugh KJ, Daniels MS, Sun CC, Soliman PT, White KG, Luthra R, Gershenson DM, Broaddus RR: Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer. J Clin Oncol. 2007, 25: 5158-5164. 10.1200/JCO.2007.10.8597.CrossRefPubMed Lu KH, Schorge JO, Rodabaugh KJ, Daniels MS, Sun CC, Soliman PT, White KG, Luthra R, Gershenson DM, Broaddus RR: Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer. J Clin Oncol. 2007, 25: 5158-5164. 10.1200/JCO.2007.10.8597.CrossRefPubMed
16.
go back to reference Resnick KE, Hampel H, Fishel R, Cohn DE: Current and emerging trends in Lynch syndrome identification in women with endometrial cancer. Gynecol Oncol. 2009, 114: 128-134. 10.1016/j.ygyno.2009.03.003.PubMedCentralCrossRefPubMed Resnick KE, Hampel H, Fishel R, Cohn DE: Current and emerging trends in Lynch syndrome identification in women with endometrial cancer. Gynecol Oncol. 2009, 114: 128-134. 10.1016/j.ygyno.2009.03.003.PubMedCentralCrossRefPubMed
17.
go back to reference Hampel H, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, LaJeunesse J, Nakagawa H, Westman JA, Prior TW, Clendenning M, de la Chapelle A, Frankel W, Penzone P, Cohn DE, Copeland L, Eaton L, Fowler J, Lombardi J, Dunn P, Bell J, Reid G, Lewandowski G, Vaccarello L: Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients. Cancer Res. 2007, 67: 9603-10.1158/0008-5472.CAN-07-2308.CrossRefPubMed Hampel H, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, LaJeunesse J, Nakagawa H, Westman JA, Prior TW, Clendenning M, de la Chapelle A, Frankel W, Penzone P, Cohn DE, Copeland L, Eaton L, Fowler J, Lombardi J, Dunn P, Bell J, Reid G, Lewandowski G, Vaccarello L: Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients. Cancer Res. 2007, 67: 9603-10.1158/0008-5472.CAN-07-2308.CrossRefPubMed
18.
go back to reference Ryan P, Mulligan AM, Aronson M, Ferguson SE, Bapat B, Semotiuk K, Holter S, Kwon J, Kalloger SE, Gilks CB, Gallinger S, Pollett A, Clarke BA: Comparison of clinical schemas and morphologic features in predicting Lynch syndrome in mutation-positive patients with endometrial cancer encountered in the context of familial gastrointestinal cancer registries. Cancer. 2012, 118: 681-688. 10.1002/cncr.26323.CrossRefPubMed Ryan P, Mulligan AM, Aronson M, Ferguson SE, Bapat B, Semotiuk K, Holter S, Kwon J, Kalloger SE, Gilks CB, Gallinger S, Pollett A, Clarke BA: Comparison of clinical schemas and morphologic features in predicting Lynch syndrome in mutation-positive patients with endometrial cancer encountered in the context of familial gastrointestinal cancer registries. Cancer. 2012, 118: 681-688. 10.1002/cncr.26323.CrossRefPubMed
19.
go back to reference Lu KH, Broaddus RR: Gynecologic Cancers in Lynch Syndrome/HNPCC. Fam Cancer. 2005, 4: 249-254. 10.1007/s10689-005-1838-3.CrossRefPubMed Lu KH, Broaddus RR: Gynecologic Cancers in Lynch Syndrome/HNPCC. Fam Cancer. 2005, 4: 249-254. 10.1007/s10689-005-1838-3.CrossRefPubMed
20.
go back to reference Soliman PT, Broaddus RR, Schmeler KM, Daniels MS, Gonzalez D, Slomovitz BM, Gershenson DM, Lu KH: Women with synchronous primary cancers of the endometrium and ovary: do they have Lynch syndrome?. J Clin Oncol. 2005, 23: 9344-9350. 10.1200/JCO.2005.03.5915.CrossRefPubMed Soliman PT, Broaddus RR, Schmeler KM, Daniels MS, Gonzalez D, Slomovitz BM, Gershenson DM, Lu KH: Women with synchronous primary cancers of the endometrium and ovary: do they have Lynch syndrome?. J Clin Oncol. 2005, 23: 9344-9350. 10.1200/JCO.2005.03.5915.CrossRefPubMed
21.
go back to reference Watson P, Vasen HF, Mecklin JP, Bernstein I, Aarnio M, Jarvinen HJ, Myrhoj T, Sunde L, Wijnen JT, Lynch HT: The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer. 2008, 123: 444-449. 10.1002/ijc.23508.PubMedCentralCrossRefPubMed Watson P, Vasen HF, Mecklin JP, Bernstein I, Aarnio M, Jarvinen HJ, Myrhoj T, Sunde L, Wijnen JT, Lynch HT: The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer. 2008, 123: 444-449. 10.1002/ijc.23508.PubMedCentralCrossRefPubMed
22.
go back to reference Lynch HT, Harris RE, Lynch PM, Guirgis HA, Lynch JF, Bardawil WA: Role of heredity in multiple primary cancer. Cancer. 1977, 40: 1849-1854. 10.1002/1097-0142(197710)40:4+<1849::AID-CNCR2820400813>3.0.CO;2-U.CrossRefPubMed Lynch HT, Harris RE, Lynch PM, Guirgis HA, Lynch JF, Bardawil WA: Role of heredity in multiple primary cancer. Cancer. 1977, 40: 1849-1854. 10.1002/1097-0142(197710)40:4+<1849::AID-CNCR2820400813>3.0.CO;2-U.CrossRefPubMed
23.
go back to reference Mecklin JP, Jarvinen HJ: Clinical features of colorectal carcinoma in cancer family syndrome. Dis Colon Rectum. 1986, 29: 160-164. 10.1007/BF02555012.CrossRefPubMed Mecklin JP, Jarvinen HJ: Clinical features of colorectal carcinoma in cancer family syndrome. Dis Colon Rectum. 1986, 29: 160-164. 10.1007/BF02555012.CrossRefPubMed
24.
go back to reference Carcangiu ML, Radice P, Casalini P, Bertario L, Merola M, Sala P: Lynch syndrome–related endometrial carcinomas show a high frequency of nonendometrioid types and of high FIGO grade endometrioid types. Int J Surg Pathol. 2010, 18: 21-26. 10.1177/1066896909332117.CrossRefPubMed Carcangiu ML, Radice P, Casalini P, Bertario L, Merola M, Sala P: Lynch syndrome–related endometrial carcinomas show a high frequency of nonendometrioid types and of high FIGO grade endometrioid types. Int J Surg Pathol. 2010, 18: 21-26. 10.1177/1066896909332117.CrossRefPubMed
25.
go back to reference Broaddus RR, Lynch HT, Chen LM, Daniels MS, Conrad P, Munsell MF, White KG, Luthra R, Lu KH: Pathologic features of endometrial carcinoma associated with HNPCC: a comparison with sporadic endometrial carcinoma. Cancer. 2006, 106: 87-94. 10.1002/cncr.21560.CrossRefPubMed Broaddus RR, Lynch HT, Chen LM, Daniels MS, Conrad P, Munsell MF, White KG, Luthra R, Lu KH: Pathologic features of endometrial carcinoma associated with HNPCC: a comparison with sporadic endometrial carcinoma. Cancer. 2006, 106: 87-94. 10.1002/cncr.21560.CrossRefPubMed
26.
go back to reference South SA, Hutton M, Farrell C, Mhawech-Fauceglia P, Rodabaugh KJ: Uterine carcinosarcoma associated with hereditary nonpolyposis colorectal cancer. Obstet Gynecol. 2007, 110: 543-545. 10.1097/01.AOG.0000275262.60526.01.CrossRefPubMed South SA, Hutton M, Farrell C, Mhawech-Fauceglia P, Rodabaugh KJ: Uterine carcinosarcoma associated with hereditary nonpolyposis colorectal cancer. Obstet Gynecol. 2007, 110: 543-545. 10.1097/01.AOG.0000275262.60526.01.CrossRefPubMed
27.
go back to reference Garg K, Shih K, Barakat R, Zhou Q, Iasonos A, Soslow RA: Endometrial carcinomas in women aged 40 years and younger: tumors associated with loss of DNA mismatch repair proteins comprise a distinct clinicopathologic subset. Am J Surg Pathol. 2009, 33: 1869-1877. 10.1097/PAS.0b013e3181bc9866.CrossRefPubMed Garg K, Shih K, Barakat R, Zhou Q, Iasonos A, Soslow RA: Endometrial carcinomas in women aged 40 years and younger: tumors associated with loss of DNA mismatch repair proteins comprise a distinct clinicopathologic subset. Am J Surg Pathol. 2009, 33: 1869-1877. 10.1097/PAS.0b013e3181bc9866.CrossRefPubMed
28.
go back to reference Christopherson WM, Alberhasky RC, Connelly PJ: Carcinoma of the endometrium. II. Papillary adenocarcinoma: a clinical pathological study, 46 cases. Am J Clin Pathol. 1982, 77: 534-540.PubMed Christopherson WM, Alberhasky RC, Connelly PJ: Carcinoma of the endometrium. II. Papillary adenocarcinoma: a clinical pathological study, 46 cases. Am J Clin Pathol. 1982, 77: 534-540.PubMed
29.
go back to reference Balmana J, Stockwell DH, Steyerberg EW, Stoffel EM, Deffenbaugh AM, Reid JE, Ward B, Scholl T, Hendrickson B, Tazelaar J, Burbidge LA, Syngal S: Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA. 2006, 296: 1469-1478. 10.1001/jama.296.12.1469.CrossRefPubMed Balmana J, Stockwell DH, Steyerberg EW, Stoffel EM, Deffenbaugh AM, Reid JE, Ward B, Scholl T, Hendrickson B, Tazelaar J, Burbidge LA, Syngal S: Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA. 2006, 296: 1469-1478. 10.1001/jama.296.12.1469.CrossRefPubMed
30.
go back to reference Chen S, Wang W, Lee S, Nafa K, Lee J, Romans K, Watson P, Gruber SB, Euhus D, Kinzler KW, Jass J, Gallinger S, Lindor NM, Casey G, Ellis N, Giardiello FM, Offit K, Parmigiani G: Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA. 2006, 296: 1479-1487. 10.1001/jama.296.12.1479.PubMedCentralCrossRefPubMed Chen S, Wang W, Lee S, Nafa K, Lee J, Romans K, Watson P, Gruber SB, Euhus D, Kinzler KW, Jass J, Gallinger S, Lindor NM, Casey G, Ellis N, Giardiello FM, Offit K, Parmigiani G: Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA. 2006, 296: 1479-1487. 10.1001/jama.296.12.1479.PubMedCentralCrossRefPubMed
31.
go back to reference Westin SN, Lacour RA, Urbauer DL, Luthra R, Bodurka DC, Lu KH, Broaddus RR: Carcinoma of the lower uterine segment: a newly described association with Lynch syndrome. J Clin Oncol. 2008, 26: 5965-5971. 10.1200/JCO.2008.18.6296.PubMedCentralCrossRefPubMed Westin SN, Lacour RA, Urbauer DL, Luthra R, Bodurka DC, Lu KH, Broaddus RR: Carcinoma of the lower uterine segment: a newly described association with Lynch syndrome. J Clin Oncol. 2008, 26: 5965-5971. 10.1200/JCO.2008.18.6296.PubMedCentralCrossRefPubMed
32.
go back to reference Goodfellow PJ, Buttin BM, Herzog TJ, Rader JS, Gibb RK, Swisher E, Look K, Walls KC, Fan MY, Mutch DG: Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. Proc Natl Acad Sci U S A. 2003, 100: 5908-5913. 10.1073/pnas.1030231100.PubMedCentralCrossRefPubMed Goodfellow PJ, Buttin BM, Herzog TJ, Rader JS, Gibb RK, Swisher E, Look K, Walls KC, Fan MY, Mutch DG: Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. Proc Natl Acad Sci U S A. 2003, 100: 5908-5913. 10.1073/pnas.1030231100.PubMedCentralCrossRefPubMed
33.
go back to reference Honore LH, Hanson J, Andrew SE: Microsatellite instability in endometrioid endometrial carcinoma: correlation with clinically relevant pathologic variables. Int J Gynecol Cancer. 2006, 16: 1386-1392. 10.1111/j.1525-1438.2006.00535.x.CrossRefPubMed Honore LH, Hanson J, Andrew SE: Microsatellite instability in endometrioid endometrial carcinoma: correlation with clinically relevant pathologic variables. Int J Gynecol Cancer. 2006, 16: 1386-1392. 10.1111/j.1525-1438.2006.00535.x.CrossRefPubMed
34.
go back to reference Boland CR, Fishel R: Lynch syndrome: form, function, proteins, and basketball. Gastroenterology. 2005, 129: 751-755.CrossRefPubMed Boland CR, Fishel R: Lynch syndrome: form, function, proteins, and basketball. Gastroenterology. 2005, 129: 751-755.CrossRefPubMed
35.
go back to reference Weissman SM, Burt R, Church J, Erdman S, Hampel H, Holter S, Jasperson K, Kalady MF, Haidle JL, Lynch HT, Palaniappan S, Wise PE, Senter L: Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline. J Genet Couns. 2012, 21: 484-493. 10.1007/s10897-011-9465-7.CrossRefPubMed Weissman SM, Burt R, Church J, Erdman S, Hampel H, Holter S, Jasperson K, Kalady MF, Haidle JL, Lynch HT, Palaniappan S, Wise PE, Senter L: Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline. J Genet Couns. 2012, 21: 484-493. 10.1007/s10897-011-9465-7.CrossRefPubMed
36.
go back to reference Garg K, Leitao MM, Kauff ND, Hansen J, Kosarin K, Shia J, Soslow RA: Selection of endometrial carcinomas for DNA mismatch repair protein immunohistochemistry using patient age and tumor morphology enhances detection of mismatch repair abnormalities. Am J Surg Pathol. 2009, 33: 925-933. 10.1097/PAS.0b013e318197a046.CrossRefPubMed Garg K, Leitao MM, Kauff ND, Hansen J, Kosarin K, Shia J, Soslow RA: Selection of endometrial carcinomas for DNA mismatch repair protein immunohistochemistry using patient age and tumor morphology enhances detection of mismatch repair abnormalities. Am J Surg Pathol. 2009, 33: 925-933. 10.1097/PAS.0b013e318197a046.CrossRefPubMed
Metadata
Title
Lynch syndrome related endometrial cancer: clinical significance beyond the endometrium
Authors
Yiying Wang
Yue Wang
Jie Li
Janiel Cragun
Kenneth Hatch
Setsuko K Chambers
Wenxin Zheng
Publication date
01-12-2013
Publisher
BioMed Central
Published in
Journal of Hematology & Oncology / Issue 1/2013
Electronic ISSN: 1756-8722
DOI
https://doi.org/10.1186/1756-8722-6-22

Other articles of this Issue 1/2013

Journal of Hematology & Oncology 1/2013 Go to the issue
Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine