Skip to main content
Top
Published in: Familial Cancer 2/2011

01-06-2011

Familial gastric cancer: update for practice management

Authors: Giovanni Corso, Daniele Marrelli, Franco Roviello

Published in: Familial Cancer | Issue 2/2011

Login to get access

Abstract

About 90% of gastric carcinoma presents a sporadic setting and only 10% shows a familial cluster; among this group, 1–3% are considered as hereditary syndromes, with a clear genetic pathway. The most important genetic mechanisms are associated with CDH1 germline mutations, causing the hereditary diffuse gastric cancer syndrome. Other inherited predispositions with gastric carcinoma are the hereditary nonpolyposis colorectal cancer, Li-Fraumeni and Peutz-Jeghers syndromes. In this brief update, we described these principal hereditary syndromes offering a simple management to physicians where are these diseases diagnosed.
Literature
1.
go back to reference Lynch HT, Lynch JF (2002) Cancer family history and genetic testing: are malpractice adjudications waiting to happen? Am J Gastroenterol 97:518–520PubMedCrossRef Lynch HT, Lynch JF (2002) Cancer family history and genetic testing: are malpractice adjudications waiting to happen? Am J Gastroenterol 97:518–520PubMedCrossRef
2.
go back to reference Guilford P, Hopkins J, Harraway J et al (1998) E-cadherin germline mutations in familial gastric cancer. Nature 392:402–405PubMedCrossRef Guilford P, Hopkins J, Harraway J et al (1998) E-cadherin germline mutations in familial gastric cancer. Nature 392:402–405PubMedCrossRef
3.
go back to reference Caldas C, Carneiro F, Lynch HT et al (1999) Familial gastric cancer: overview and guidelines for management. J Med Genet 36:873–880PubMed Caldas C, Carneiro F, Lynch HT et al (1999) Familial gastric cancer: overview and guidelines for management. J Med Genet 36:873–880PubMed
4.
go back to reference Oliveira C, Carneiro F, Seruca R (2009) Hereditary gastric cancer. Best Pract Res Clin Gastroenterol 23:147–157PubMedCrossRef Oliveira C, Carneiro F, Seruca R (2009) Hereditary gastric cancer. Best Pract Res Clin Gastroenterol 23:147–157PubMedCrossRef
5.
go back to reference Pedrazzani C, Corso G, Velho S et al (2009) Evidence of tumor microsatellite instability in gastric cancer with familial aggregation. Fam Cancer 8:215–220PubMedCrossRef Pedrazzani C, Corso G, Velho S et al (2009) Evidence of tumor microsatellite instability in gastric cancer with familial aggregation. Fam Cancer 8:215–220PubMedCrossRef
6.
go back to reference Palli D, Russo A, Ottini L et al (2001) Red meat, family history, and increased risk of gastric cancer with microsatellite instability. Cancer Res 61:5415–5419PubMed Palli D, Russo A, Ottini L et al (2001) Red meat, family history, and increased risk of gastric cancer with microsatellite instability. Cancer Res 61:5415–5419PubMed
7.
go back to reference Buermeyer AB, Deschênes SM, Baker SM et al (1999) Mammalian DNA mismatch repair. Annu Rev Genet 33:533–564PubMedCrossRef Buermeyer AB, Deschênes SM, Baker SM et al (1999) Mammalian DNA mismatch repair. Annu Rev Genet 33:533–564PubMedCrossRef
8.
go back to reference La Torre G, Chiaradia G, Gianfagna F et al (2009) Smoking status and gastric cancer risk: an updated meta-analysis of case-control studies published in the past ten years. Tumori 95:13–22PubMed La Torre G, Chiaradia G, Gianfagna F et al (2009) Smoking status and gastric cancer risk: an updated meta-analysis of case-control studies published in the past ten years. Tumori 95:13–22PubMed
9.
go back to reference Corso G, Marrelli D, Pedrazzani C et al (2009) Gastric cardia carcinoma is associated with the promoter −77T > C gene polymorphism of X-ray cross-complementing group 1 (XRCC1). J Gastrointest Surg 13:2233–2238PubMedCrossRef Corso G, Marrelli D, Pedrazzani C et al (2009) Gastric cardia carcinoma is associated with the promoter −77T > C gene polymorphism of X-ray cross-complementing group 1 (XRCC1). J Gastrointest Surg 13:2233–2238PubMedCrossRef
10.
go back to reference Guilford P, Hopkins JB, Grady WM et al (1999) E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. Hum Mutat 14:249–255PubMedCrossRef Guilford P, Hopkins JB, Grady WM et al (1999) E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. Hum Mutat 14:249–255PubMedCrossRef
11.
go back to reference Berx G, Cleton-Jansen AM, Nollet F et al (1995) E-cadherin is a tumor/invasion suppressor gene mutated in human lobular breast cancers. EMBO J 14:6107–6115PubMed Berx G, Cleton-Jansen AM, Nollet F et al (1995) E-cadherin is a tumor/invasion suppressor gene mutated in human lobular breast cancers. EMBO J 14:6107–6115PubMed
12.
go back to reference Takeichi M (1991) Cadherin cell adhesion receptors as a morphogenetic regulator. Science 251:451–1455CrossRef Takeichi M (1991) Cadherin cell adhesion receptors as a morphogenetic regulator. Science 251:451–1455CrossRef
13.
go back to reference Brooks-Wilson AR, Kaurah P, Suriano G et al (2004) Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Genet 41:508–517PubMedCrossRef Brooks-Wilson AR, Kaurah P, Suriano G et al (2004) Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Genet 41:508–517PubMedCrossRef
14.
go back to reference Fitzgeral RC, Hardwick R, Huntsman D et al (2010) Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 47:436–444CrossRef Fitzgeral RC, Hardwick R, Huntsman D et al (2010) Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 47:436–444CrossRef
15.
go back to reference Guilford P, Humar B, Blair V (2010) Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. Gastric Cancer 13:1–10PubMedCrossRef Guilford P, Humar B, Blair V (2010) Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. Gastric Cancer 13:1–10PubMedCrossRef
16.
go back to reference Suriano G, Oliveira MJ, Huntsman DG et al (2003) E-cadherin germline missense mutations and cell phenotype: evidence for the independence of cell invasion on the motile capabilities of the cells. Hum Mol Genet 15:3007–3016CrossRef Suriano G, Oliveira MJ, Huntsman DG et al (2003) E-cadherin germline missense mutations and cell phenotype: evidence for the independence of cell invasion on the motile capabilities of the cells. Hum Mol Genet 15:3007–3016CrossRef
17.
go back to reference Charlton A, Blair V, Shaw D et al (2005) Hereditary diffuse gastric cancer: predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone. Gut 53:814–820CrossRef Charlton A, Blair V, Shaw D et al (2005) Hereditary diffuse gastric cancer: predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone. Gut 53:814–820CrossRef
18.
go back to reference Pedrazzani C, Corso G, Marrelli D et al (2007) E cadherin and diffuse gastric cancer. Surgery 142:645–657PubMedCrossRef Pedrazzani C, Corso G, Marrelli D et al (2007) E cadherin and diffuse gastric cancer. Surgery 142:645–657PubMedCrossRef
19.
go back to reference Rhyu MS (1996) Molecular mechanisms underlying hereditary nonpolyposis colorectal carcinoma. J Natl Cancer Inst 88:240–251PubMedCrossRef Rhyu MS (1996) Molecular mechanisms underlying hereditary nonpolyposis colorectal carcinoma. J Natl Cancer Inst 88:240–251PubMedCrossRef
20.
go back to reference Vasen HF (2000) Clinical diagnosis and management of hereditary colorectal cancer syndromes. J Clin Oncol 18:81S–92SPubMed Vasen HF (2000) Clinical diagnosis and management of hereditary colorectal cancer syndromes. J Clin Oncol 18:81S–92SPubMed
21.
go back to reference Boland CR, Goel A (2010) Microsatellite instability in colorectal cancer. Gastroenterology 138:2073–2087PubMedCrossRef Boland CR, Goel A (2010) Microsatellite instability in colorectal cancer. Gastroenterology 138:2073–2087PubMedCrossRef
22.
23.
go back to reference Watson P, Lynch HT (1993) Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71:677–685PubMedCrossRef Watson P, Lynch HT (1993) Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71:677–685PubMedCrossRef
24.
go back to reference Aarnio M, Sankila R, Pukkala E et al (1999) Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81:214–218PubMedCrossRef Aarnio M, Sankila R, Pukkala E et al (1999) Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81:214–218PubMedCrossRef
25.
go back to reference Gylling A, Abdel-Rahman WM, Juhola M et al (2007) Is gastric cancer part of the tumour spectrum of hereditary non-polyposis colorectal cancer? A molecular genetic study. Gut 56:926–933PubMedCrossRef Gylling A, Abdel-Rahman WM, Juhola M et al (2007) Is gastric cancer part of the tumour spectrum of hereditary non-polyposis colorectal cancer? A molecular genetic study. Gut 56:926–933PubMedCrossRef
26.
go back to reference Rodriguez-Bigas MA, Boland CR, Hamilton SR et al (1997) A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89:1758–1762PubMedCrossRef Rodriguez-Bigas MA, Boland CR, Hamilton SR et al (1997) A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89:1758–1762PubMedCrossRef
27.
go back to reference Umar A, Boland CR, Terdiman JP et al (2004) Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96:261–268PubMedCrossRef Umar A, Boland CR, Terdiman JP et al (2004) Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96:261–268PubMedCrossRef
28.
go back to reference Vasen HF (2005) Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)]. Fam Cancer 4:219–225PubMedCrossRef Vasen HF (2005) Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)]. Fam Cancer 4:219–225PubMedCrossRef
29.
go back to reference Birch JM, Alston RD, McNally RJ et al (2001) Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 20:4621–4628PubMedCrossRef Birch JM, Alston RD, McNally RJ et al (2001) Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 20:4621–4628PubMedCrossRef
30.
go back to reference Olivier M, Goldgar DE, Sodha N et al (2003) Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res 63:6643–6650PubMed Olivier M, Goldgar DE, Sodha N et al (2003) Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res 63:6643–6650PubMed
31.
go back to reference Li FP, Fraumeni JF, Jr, Mulvihill JJ, Blattner WA et al. (1988) A cancer family syndrome in twenty-four kindreds. Cancer Research 485358–485362 Li FP, Fraumeni JF, Jr, Mulvihill JJ, Blattner WA et al. (1988) A cancer family syndrome in twenty-four kindreds. Cancer Research 485358–485362
32.
go back to reference Birch JM, Hartley AL, Tricker KJ et al (1994) Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 54:1298–1304PubMed Birch JM, Hartley AL, Tricker KJ et al (1994) Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 54:1298–1304PubMed
33.
go back to reference Varlery JM (2003) Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat 21:313–320CrossRef Varlery JM (2003) Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat 21:313–320CrossRef
35.
go back to reference Oliveira C, Ferreira P, Nabais S et al (2004) E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients. Eur J Cancer 40:1897–1903PubMedCrossRef Oliveira C, Ferreira P, Nabais S et al (2004) E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients. Eur J Cancer 40:1897–1903PubMedCrossRef
36.
go back to reference Sugano K, Taniguchi T, Saeki M et al (1999) Germline p53 mutation in a case of Li-Fraumeni syndrome presenting gastric cancer. Jpn J Clin Oncol 29:513–516PubMedCrossRef Sugano K, Taniguchi T, Saeki M et al (1999) Germline p53 mutation in a case of Li-Fraumeni syndrome presenting gastric cancer. Jpn J Clin Oncol 29:513–516PubMedCrossRef
37.
go back to reference Kim IJ, Kang HC, Shin Y et al (2004) A TP53-truncating germline mutation (E287×) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome. J Hum Genet 49:591–595PubMedCrossRef Kim IJ, Kang HC, Shin Y et al (2004) A TP53-truncating germline mutation (E287×) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome. J Hum Genet 49:591–595PubMedCrossRef
38.
go back to reference Keller G, Vogelsang H, Becker I et al (2004) Germline mutations of the E-cadherin (CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients. J Med Genet 41:89CrossRef Keller G, Vogelsang H, Becker I et al (2004) Germline mutations of the E-cadherin (CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients. J Med Genet 41:89CrossRef
39.
go back to reference Kusano M, Kakiuchi H, Mihara M et al (2001) Absence of microsatellite instability and germline mutations of E-cadherin, APC and p53 genes in Japanese familial gastric cancer. Tumor Biology 22:262–268PubMedCrossRef Kusano M, Kakiuchi H, Mihara M et al (2001) Absence of microsatellite instability and germline mutations of E-cadherin, APC and p53 genes in Japanese familial gastric cancer. Tumor Biology 22:262–268PubMedCrossRef
40.
go back to reference Corso G, Pedrazzani C, Marrelli D et al (2010) Familial gastric cancer and Li-Fraumeni syndrome. Eur J Cancer Care 19:377–381CrossRef Corso G, Pedrazzani C, Marrelli D et al (2010) Familial gastric cancer and Li-Fraumeni syndrome. Eur J Cancer Care 19:377–381CrossRef
41.
go back to reference Peutz JLA (1921) Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane. Nederl Maandschr Geneesk 10:134–46 Peutz JLA (1921) Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane. Nederl Maandschr Geneesk 10:134–46
42.
go back to reference Jeghers H, McKusick VA, Katz HA et al (1949) Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significante. N Engl J Med 241:1031–1036PubMedCrossRef Jeghers H, McKusick VA, Katz HA et al (1949) Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significante. N Engl J Med 241:1031–1036PubMedCrossRef
43.
go back to reference Van Lier MGF, Wagner A, Mathus-Vligen EMH et al (2010) High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance reccomendations. Am J Gastroenterol 105:1258–1264PubMedCrossRef Van Lier MGF, Wagner A, Mathus-Vligen EMH et al (2010) High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance reccomendations. Am J Gastroenterol 105:1258–1264PubMedCrossRef
44.
go back to reference Lim W, Hearle N, Shah B et al (2003) Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer 89:308–313PubMedCrossRef Lim W, Hearle N, Shah B et al (2003) Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer 89:308–313PubMedCrossRef
45.
go back to reference Suriano G, Seixas S, Rocha J et al (2006) A model to infer the pathogenic significance of CDH1 germline missense variants. J Mol Med 84:1023–1031PubMedCrossRef Suriano G, Seixas S, Rocha J et al (2006) A model to infer the pathogenic significance of CDH1 germline missense variants. J Mol Med 84:1023–1031PubMedCrossRef
46.
go back to reference Lindor NM, Petersen GM, Hadley DW et al. (2006) Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA 2006 296:1507–1517 Lindor NM, Petersen GM, Hadley DW et al. (2006) Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA 2006 296:1507–1517
47.
go back to reference Hendriks YM, de Jong AE, Morreau H et al (2006) Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians. CA Cancer J Clin 56:213–225PubMedCrossRef Hendriks YM, de Jong AE, Morreau H et al (2006) Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians. CA Cancer J Clin 56:213–225PubMedCrossRef
48.
go back to reference Roviello F, Corso G, Pedrazzani C et al (2007) High incidence of familial history in Tuscany, a region in Italy. Oncology 72:243–247PubMedCrossRef Roviello F, Corso G, Pedrazzani C et al (2007) High incidence of familial history in Tuscany, a region in Italy. Oncology 72:243–247PubMedCrossRef
49.
go back to reference Roviello F, Corso G, Pedrazzani C et al (2007) Hereditary diffuse gastric cancer and E-cadherin: description of the first germline mutation in an Italian family. Eur J Surg Oncol 33:448–451PubMedCrossRef Roviello F, Corso G, Pedrazzani C et al (2007) Hereditary diffuse gastric cancer and E-cadherin: description of the first germline mutation in an Italian family. Eur J Surg Oncol 33:448–451PubMedCrossRef
50.
go back to reference Corso G, Pedrazzani C, Pinheiro H et al. (2010) E-cadherin genetic screening and clinico-pathologic characteristics of early onset gastric cancer. Eur J Cancer in press Corso G, Pedrazzani C, Pinheiro H et al. (2010) E-cadherin genetic screening and clinico-pathologic characteristics of early onset gastric cancer. Eur J Cancer in press
Metadata
Title
Familial gastric cancer: update for practice management
Authors
Giovanni Corso
Daniele Marrelli
Franco Roviello
Publication date
01-06-2011
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 2/2011
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-010-9410-1

Other articles of this Issue 2/2011

Familial Cancer 2/2011 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