Defective genes

Gastric and colon carcinomas, adrenocortical carcinomas, haematological and gynaecological malignancies

Gastrointestinal carcinomas, and breast, testicular and ovarian carcinomas

7 Guilford, P. et al. (1998) E-cadherin germline mutations in familial gastric cancer. Nature 392, 402-405, PubMed

10 Gayther, S.A. et al. (1998) Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. Cancer Res 58, 4086-4089, PubMed

11 Richards, F.M. et al. (1999) Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum Mol Genet 8, 607-610, PubMed

12 Keller, G. et al. (1999) Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation. Am J Pathol 155, 337-342, PubMed

13 Guilford, P.J. et al. (1999) E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. Hum Mutat 14, 249-255, PubMed

14 Dussaulx-Garin, L. et al. (2001) A new mutation of E-cadherin gene in familial gastric linitis plastica cancer with extra-digestive dissemination. Eur J Gastroenterol Hepatol 13, 711-715, PubMed

15 Jonsson, B.A. et al. (2002) Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer. Int J Cancer 98, 838-843, PubMed

16 Oliveira, C. et al. (2002) Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. Hum Mutat 19, 510-517, PubMed

17 Humar, B. et al. (2002) Novel germline CDH1 mutations in hereditary diffuse gastric cancer families. Hum Mutat 19, 518-525, PubMed

18 Keller, G. 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, e89, PubMed

19 Oliveira, C. 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, 1897-1903, PubMed

20 Brooks-Wilson, A.R. 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, 508-517, PubMed

26 Watson, P. and Lynch, H.T. (2001) Cancer risk in mismatch repair gene mutation carriers. Fam Cancer 1, 57-60, PubMed

27 Lynch, H.T. and de la Chapelle, A. (2003) Hereditary colorectal cancer. N Engl J Med 348, 919-932, PubMed

28 Aarnio, M. et al. (1997) Features of gastric cancer in hereditary non-polyposis colorectal cancer syndrome. Int J Cancer 74, 551-555, PubMed

30 Kleihues, P. et al. (1997) Tumors associated with p53 germline mutations: a synopsis of 91 families. Am J Pathol 150, 1-13, PubMed

31 Varley, J.M. et al. (1995) An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. J Med Genet 32, 942-945, PubMed

32 Horio, Y. et al. (1994) Predominantly tumor-limited expression of a mutant allele in a Japanese family carrying a germline p53 mutation. Oncogene 9, 1231-1235, PubMed

33 Jarvinen, H., Nyberg, M. and Peltokallio, P. (1983) Upper gastrointestinal tract polyps in familial adenomatosis coli. Gut 24, 333-339, PubMed

34 Hofgartner, W.T. et al. (1999) Gastric adenocarcinoma associated with fundic gland polyps in a patient with attenuated familial adenomatous polyposis. Am J Gastroenterol 94, 2275-2281, PubMed

35 Entius, M.M. et al. (1999) Molecular and phenotypic markers of hamartomatous polyposis syndromes in the gastrointestinal tract. Hepatogastroenterology 46, 661-666, PubMed

36 Giardiello, F.M. et al. (1987) Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 316, 1511-1514, PubMed

37 Howe, J.R., Mitros, F.A. and Summers, R.W. (1998) The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol 5, 751-756, PubMed

38 Woodford-Richens, K. et al. (2000) Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Gut 46, 656-660, PubMed

39 Howe, J.R. et al. (1998) Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 280, 1086-1088, PubMed

40 Howe, J.R. et al. (2001) Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet 28, 184-187, PubMed