Abstract
CDH1 germline mutation is the most important genetic mechanism that associates with the development of the hereditary diffuse gastric cancer syndrome. However, gastric carcinoma participates also in other inherited predispositions as the hereditary nonpolyposis colorectal cancer, Li-Fraumeni and Peutz Jeghers syndromes. While in these cases the gastric cancer risk is undefined and causative germline mutations are rarely identified, members of the family can be similarly tested and identified, providing targeted surveillance and management opportunities.
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Abbreviations
- HDGC:
-
Hereditary Diffuse Gastric Cancer
- HNPCC:
-
Hereditary Non-Polyposis Colorectal Cancer
- LF:
-
Li Fraumeni
- PJS:
-
Peutz-Jeghers Syndrome
- MMR:
-
Mismatch Repair
- MSI:
-
Microsatellite Instability
- LFL:
-
Li–Fraumeni-like
References
Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A, Peltomäki P, Mecklin JP, Järvinen HJ (1999) Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81(2):214–218. doi:10.1002/(SICI)10970215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L
Birch JM, Hartley AL, Tricker KJ, Presser J, Condie A, Kelsey AM, Harris M, Morris Jones PH, Binchy A, Crowther D, Alan W, Craft AW, Eden OB, Evans DGR, Thompson E, Mann JR, Martin J, Mitchell ELD, Santibanez-Koref MF (1994) Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 54(5):1298–1304
Birch JM, Alston RD, McNally RJ, Evans DG, Kelsey AM, Harris M, Eden OB, Varley JM (2001) Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 20(34):4621–4628
Boland CR, Goel A (2010) Microsatellite instability in colorectal cancer. Gastroenterology 138(6):2073–2087. doi:10.1053/j.gastro.2009.12.064
Caldas C, Carneiro F, Lynch HT, Yokota J, Wiesner GL, Powell SM, Lewis FR, Huntsman DG, Pharoah PD, Jankowski JA, MacLeod P, Vogelsang H, Keller G, Park KG, Richards FM, Maher ER, Gayther SA, Oliveira C, Grehan N, Wight D, Seruca R, Roviello F, Ponder BA, Jackson CE (1999) Familial gastric cancer: overview and guidelines for management. J Med Genet 36(12):873–880
Chompret A (2002) The Li-Fraumeni syndrome. Biochimie 84(1):75–82
Corso G, Pedrazzani C, Marrelli D, Pinto E, Roviello F (2010) Familial gastric cancer and Li-Fraumeni syndrome. Eur J Cancer Care 19(3):377–381. doi:10.1111/j.1365-2354.2008.01066.x
Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P, Taite H, Scoular R, Miller A, Reeve AE (1998) E-cadherin germline mutation in familial gastric cancer. Nature 392(6674):402–405. doi:10.1038/32918
Gylling A, Abdel-Rahman WM, Juhola M, Nuorva K, Hautala E, Järvinen HJ, Mecklin JP, Aarnio M, Peltomäki P (2007) Is gastric cancer part of the tumour spectrum of hereditary non-polyposis colorectal cancer? A molecular genetic study. Gut 56(7):926–933. doi:10.1136/gut.2006.114876
Jeghers H, McKusick VA, Katz HA (1949) Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significant. N Engl J Med 241(26):1031–1036
Keller G, Vogelsang H, Becker I, Plaschke S, Ott K, Suriano G, Mateus AR, Seruca R, Biedermann K, Huntsman D, Döring C, Holinski-Feder E, Neutzling A, Siewert JR, Höfler H (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(6):89. doi:10.1136/jmg.2003.015594
Kim IJ, Kang HC, Shin Y, Park HW, Jang SG, Han SY, Lim SK, Lee MR, Chang HJ, Ku JL, Yang HK, Park JG (2004) A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome. J Hum Genet 49(11):591–595. doi:10.1007/s10038-004-0193-9
Kusano M, Kakiuchi H, Mihara M, Itoh F, Adachi Y, Ohara M, Hosokawa M, Imai K (2001) Absence of microsatellite instability and germline mutations of E-cadherin, APC and p53 genes in Japanese familial gastric cancer. Tumor Biol 22(4):262–268
Li FP, Fraumeni JF Jr, Mulvihill JJ, Blattner WA, Dreyfus MG, Tucker MA, Miller RW (1988) A cancer family syndrome in twenty-four kindreds. Cancer Res 48(18):5358–5362
Lim W, Hearle N, Shah B, Murday V, Hodgson SV, Lucassen A, Eccles D, Talbot I, Neale K, Lim AG, O’Donohue J, Donaldson A, Macdonald RC, Young ID, Robinson MH, Lee PW, Stoodley BJ, Tomlinson I, Alderson D, Holbrook AG, Vyas S, Swarbrick ET, Lewis AA, Phillips RK, Houlston RS (2003) Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer 89(2):308–313. doi:10.1038/sj.bjc.6601030
Lynch HT, de la Chapelle A (2003) Hereditary colorectal cancer. N Engl J Med 348:919–932. doi:10.1056/NEJMra012242
Lynch HT, Lynch JF, Shaw TG (2011) Hereditary gastrointestinal cancer syndromes. Gastrointest Cancer Res 4(4):S9–S17
Oliveira C, Ferreira P, Nabais S, Campos L, Ferreira A, Cirnes L, Alves CC, Veiga I, Fragoso M, Regateiro F, Dias LM, Moreira H, Suriano G, Machado JC, Lopes C, Castedo S, Carneiro F, Seruca R (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(12):1897–1903
Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA (2003) Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res 63(20):6643–6650
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. Ned Maandschr Geneesk 10:134–146
Rhyu MS (1996) Molecular mechanisms underlying hereditary nonpolyposis colorectal carcinoma. J Natl Cancer Inst 88(5):240–251
Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, Lynch H, Perucho M, Smyrk T, Sobin L, Srivastava S (1997) A National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89(23):1758–1762. doi:10.1093/jnci/89.23.1758
Sugano K, Taniguchi T, Saeki M, Tsunematsu Y, Tomaru U, Shimoda T (1999) Germline p53 mutation in a case of Li-Fraumeni syndrome presenting gastric cancer. Jpn J Clin Oncol 29(10):513–516. doi:10.1093/jjco/29.10.513
Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S (2004) Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96(4):261–268
Van Lier MGF, Wagner A, Mathus-Vligen EMH, Kuipers EJ, Steyerberg EW, van Leerdam ME (2010) High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol 105(6):1258–1264. doi:10.1038/ajg.2009.725
Varlery JM (2003) Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat 21(3):313–320. doi:10.1002/humu.10185
Vasen HF (2000) Clinical diagnosis and management of hereditary colorectal cancer syndromes. J Clin Oncol 18(21 Suppl):81S–92S
Vasen HF (2005) Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)]. Fam Cancer 4(3):219–225. doi:10.1007/s10689-004-3906-5
Watson P, Lynch HT (1993) Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71(3):677–685
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Corso, G., Velho, S. (2013). Gastric Cancer in Other Inherited Syndromes. In: Corso, G., Roviello, F. (eds) Spotlight on Familial and Hereditary Gastric Cancer. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-6570-2_15
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DOI: https://doi.org/10.1007/978-94-007-6570-2_15
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