Genetic screening for hereditary diffuse gastric cancer

Knowledge regarding the genetic basis of hereditary diffuse gastric cancer has greatly increased in the past 4 years, namely due to the discovery of segregating germline mutations in the gene coding for E-cadherin, within families with this cancer predisposing syndrome. Members of hereditary diffuse gastric cancer families have predominantly high predisposition to develop diffuse carcinomas of the stomach but can also be associated with an elevate risk for other types of cancer, namely lobular breast carcinoma. In this review, we focus on the epidemiology, pathology and genetics of gastric cancer, describe families, E-cadherin mutations, and suggest alternative candidate genes underlying the hereditary diffuse gastric cancer syndrome. This knowledge is a fundamental step towards accurate genetic counselling, in which a highly specialized presymptomatic therapeutic intervention should be offered.

[1]  J. Yokota,et al.  E‐cadherin gene variants in gastric cancer families whose probands are diagnosed with diffuse gastric cancer , 2002, International journal of cancer.

[2]  C. Caldas,et al.  CDH1 c‐160a promotor polymorphism is not associated with risk of stomach cancer , 2002, International journal of cancer.

[3]  M. Monden,et al.  Restoration of E-cadherin-based cell–cell adhesion by overexpression of nectin in HSC-39 cells, a human signet ring cell gastric cancer cell line , 2002, Oncogene.

[4]  L. Aaltonen,et al.  Screening E‐cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred , 2002, Human mutation.

[5]  T. Merriman,et al.  Novel germline CDH1 mutations in hereditary diffuse gastric cancer families , 2002, Human mutation.

[6]  M. Shin,et al.  Inactivating mutations of the caspase-10 gene in gastric cancer , 2002, Oncogene.

[7]  H. Grönberg,et al.  Germline mutations in E‐cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer , 2002, International journal of cancer.

[8]  Avri Ben-Ze'ev,et al.  The cadherin-catenin adhesion system in signaling and cancer. , 2002, The Journal of clinical investigation.

[9]  S. Itohara,et al.  Causal Relationship between the Loss of RUNX3 Expression and Gastric Cancer , 2002, Cell.

[10]  E. Fearon,et al.  The SLUG zinc-finger protein represses E-cadherin in breast cancer. , 2002, Cancer research.

[11]  W. Birchmeier,et al.  Hakai, a c-Cbl-like protein, ubiquitinates and induces endocytosis of the E-cadherin complex , 2002, Nature Cell Biology.

[12]  Chien-Jen Chen,et al.  Association of the −160 C → a promoter polymorphism of E‐cadherin gene with gastric carcinoma risk , 2002, Cancer.

[13]  K. Green.  Faculty Opinions recommendation of Hakai, a c-Cbl-like protein, ubiquitinates and induces endocytosis of the E-cadherin complex. , 2002 .

[14]  S. Hirohashi,et al.  Dysadherin, a cancer-associated cell membrane glycoprotein, down-regulates E-cadherin and promotes metastasis , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[15]  J. Blenis,et al.  Death Receptor Recruitment of Endogenous Caspase-10 and Apoptosis Initiation in the Absence of Caspase-8* , 2001, The Journal of Biological Chemistry.

[16]  C Caldas,et al.  Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. , 2001, Gastroenterology.

[17]  P. Pharoah,et al.  Interleukin 1B and interleukin 1RN polymorphisms are associated with increased risk of gastric carcinoma. , 2001, Gastroenterology.

[18]  Lee Yj,et al.  Association between TNF-α promoter polymorphism and Helicobacter pylori cagA subtype infection , 2001 .

[19]  Hansjuerg Alder,et al.  FEZ1/LZTS1 gene at 8p22 suppresses cancer cell growth and regulates mitosis , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[20]  B. Petersen,et al.  Germline E‐cadherin gene mutations , 2001, Cancer.

[21]  C. Caldas,et al.  Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. , 2001, The New England journal of medicine.

[22]  J. Craft,et al.  Detection of functional PTEN lipid phosphatase protein and enzyme activity in squamous cell carcinomas of the head andeck, despite loss of heterozygosity at this locus , 2001, British Journal of Cancer.

[23]  J. Raoul,et al.  A new mutation of E-cadherin gene in familial gastric linitis plastica cancer with extra-digestive dissemination. , 2001, European journal of gastroenterology & hepatology.

[24]  G. Berx,et al.  The two-handed E box binding zinc finger protein SIP1 downregulates E-cadherin and induces invasion. , 2001, Molecular cell.

[25]  M. Rugge,et al.  Fez1/lzts1 alterations in gastric carcinoma. , 2001, Clinical cancer research : an official journal of the American Association for Cancer Research.

[26]  William I. Weis,et al.  The Structure of the β-Catenin/E-Cadherin Complex and the Molecular Basis of Diverse Ligand Recognition by β-Catenin , 2001, Cell.

[27]  C. Caldas,et al.  E-cadherin gene (CDH1) promoter methylation as the second hit in sporadic diffuse gastric carcinoma , 2001, Oncogene.

[28]  Y. Doki,et al.  Localization of IQGAP1 is inversely correlated with intercellular adhesion mediated by e‐cadherin in gastric cancers , 2001, International journal of cancer.

[29]  L. Aaltonen,et al.  E-cadherinis not frequently mutated in hereditary gastric cancer , 2001, Journal of medical genetics.

[30]  D. Leckband,et al.  Mechanism of homophilic cadherin adhesion. , 2000, Current opinion in cell biology.

[31]  J. Willis,et al.  Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer , 2000, Nature Genetics.

[32]  P. Polakis.  Wnt signaling and cancer. , 2000, Genes & development.

[33]  L. Hansson,et al.  Decreasing incidence of both major histologic subtypes of gastric adenocarcinoma – a population-based study in Sweden , 2000, British Journal of Cancer.

[34]  M. Blaser.  Linking Helicobacter pylori to gastric cancer , 2000, Nature Medicine.

[35]  M. Carrington,et al.  Interleukin-1 polymorphisms associated with increased risk of gastric cancer , 2000, Nature.

[36]  P. Carroll,et al.  A single nucleotide polymorphism in the E-cadherin gene promoter alters transcriptional activities. , 2000, Cancer research.

[37]  Francisco Portillo,et al.  The transcription factor Snail controls epithelial–mesenchymal transitions by repressing E-cadherin expression , 2000, Nature Cell Biology.

[38]  R. Bronson,et al.  Gastric Hyperplasia in Mice Lacking the Putative Cdc42 Effector IQGAP1 , 2000, Molecular and Cellular Biology.

[39]  K. Isselbacher,et al.  Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. , 1999, Science.

[40]  M Oshima,et al.  Gastric and duodenal polyps in Smad4 (Dpc4) knockout mice. , 1999, Cancer research.

[41]  J. Yokota,et al.  Familial gastric cancer: overview and guidelines for management* , 1999, Journal of medical genetics.

[42]  H. Höfler,et al.  Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation. , 1999, The American journal of pathology.

[43]  Y. Yuasa,et al.  Infrequent germ-line mutation of the E-cadherin gene in Japanese familial gastric cancer kindreds. , 1999, Clinical cancer research : an official journal of the American Association for Cancer Research.

[44]  H T Lynch,et al.  New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. , 1999, Gastroenterology.

[45]  J. Yokota,et al.  Familial gastric cancer: clinicopathological characteristics, RER phenotype and germline p53 and E-cadherin mutations. , 1999, Carcinogenesis.

[46]  J. Ku,et al.  Germline mutations of E-cadherin gene in Korean familial gastric cancer patients , 1999, Journal of Human Genetics.

[47]  A. Detsky,et al.  Cost comparison of predictive genetic testing versus conventional clinical screening for familial adenomatous polyposis , 1999, Gut.

[48]  G. Berx,et al.  E-cadherin gene mutations provide a genetic basis for the phenotypic divergence of mixed gastric carcinomas. , 1999, Laboratory investigation; a journal of technical methods and pathology.

[49]  D. Evans,et al.  Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. , 1999, Human molecular genetics.

[50]  C. Croce,et al.  The FEZ1 gene at chromosome 8p22 encodes a leucine-zipper protein, and its expression is altered in multiple human tumors. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[51]  P. Møller,et al.  MSH2 genomic deletions are a frequent cause of HNPCC , 1998, Nature Genetics.

[52]  R. Eeles,et al.  Germline PTEN mutations in Cowden syndrome-like families. , 1998, Journal of medical genetics.

[53]  W. Bodmer,et al.  Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. , 1998, Human molecular genetics.

[54]  Kylie L. Gorringe,et al.  Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. , 1998, Cancer research.

[55]  A. Giuliano,et al.  Sophisticated techniques detect obscure lymph node metastases in carcinoma of the breast , 1998, Cancer.

[56]  M. Greene,et al.  The Concise Handbook of Family Cancer Syndromes , 1998 .

[57]  L. Aaltonen,et al.  Mutations in the SMAD4/DPC4 gene in juvenile polyposis. , 1998, Science.

[58]  Anthony E. Reeve,et al.  E-cadherin germline mutations in familial gastric cancer , 1998, Nature.

[59]  R. Nusse,et al.  β-catenin: a key mediator of Wnt signaling , 1998 .

[60]  S. Antonarakis,et al.  Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. , 1997, American journal of human genetics.

[61]  M. Koike,et al.  Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer , 1997, Nature Genetics.

[62]  L. Aaltonen,et al.  Features of gastric cancer in hereditary non‐polyposis colorectal cancer syndrome , 1997, International journal of cancer.

[63]  Stephen W. Byers,et al.  Serine Phosphorylation-regulated Ubiquitination and Degradation of β-Catenin* , 1997, The Journal of Biological Chemistry.

[64]  D. Evans,et al.  Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. , 1997, Cancer research.

[65]  Jörg Stappert,et al.  β‐catenin is a target for the ubiquitin–proteasome pathway , 1997 .

[66]  D M Parkin,et al.  Cancer incidence and mortality in the European Union: cancer registry data and estimates of national incidence for 1990. , 1997, European journal of cancer.

[67]  Jing Li,et al.  Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome , 1997, Nature Genetics.

[68]  G. Berx,et al.  E-cadherin is inactivated in a majority of invasive human lobular breast cancers by truncation mutations throughout its extracellular domain. , 1996, Oncogene.

[69]  S. Nishizuka,et al.  Inactivation of the E‐Cadherin Gene in Primary Gastric Carcinomas and Gastric Carcinoma Cell Lines , 1996, Japanese journal of cancer research : Gann.

[70]  S. Hirohashi,et al.  E‐Cadherin Gene Mutations in Signet Ring Cell Carcinoma of the Stomach , 1996, Japanese journal of cancer research : Gann.

[71]  M. Ikura,et al.  Structural basis of calcium-induced E-cadherin rigidification and dimerization , 1996, Nature.

[72]  J. Kleibeuker,et al.  The risk of brain tumours in hereditary non‐polyposis colorectal cancer (HNPCC) , 1996, International journal of cancer.

[73]  M. Vijver,et al.  E‐cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. , 1995, The EMBO journal.

[74]  D. Evans,et al.  An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. , 1995, Journal of medical genetics.

[75]  J. Herman,et al.  E-cadherin expression is silenced by DNA hypermethylation in human breast and prostate carcinomas. , 1995, Cancer research.

[76]  W. Birchmeier,et al.  Progression of carcinoma cells is associated with alterations in chromatin structure and factor binding at the E-cadherin promoter in vivo. , 1995, Oncogene.

[77]  K. Kinzler,et al.  Mutations of GTBP in genetically unstable cells. , 1995, Science.

[78]  Peter D. Kwong,et al.  Structural basis of cell-cell adhesion by cadherins , 1995, Nature.

[79]  D. Riethmacher,et al.  A targeted mutation in the mouse E-cadherin gene results in defective preimplantation development. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[80]  M. Ikura,et al.  Solution structure of the epithelial cadherin domain responsible for selective cell adhesion , 1995, Science.

[81]  J. Daniel,et al.  Identification of a new catenin: the tyrosine kinase substrate p120cas associates with E-cadherin complexes , 1994, Molecular and cellular biology.

[82]  M H Skolnick,et al.  Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. , 1994, Journal of the National Cancer Institute.

[83]  L. Larue,et al.  E-cadherin null mutant embryos fail to form a trophectoderm epithelium. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[84]  H. Höfler,et al.  E-cadherin gene mutations provide clues to diffuse type gastric carcinomas. , 1994, Cancer research.

[85]  R. Fleischmann,et al.  Mutation of a mutL homolog in hereditary colon cancer. , 1994, Science.

[86]  D. Ward,et al.  Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer , 1994, Nature.

[87]  S. Hirohashi,et al.  E-cadherin gene mutations in human gastric carcinoma cell lines. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[88]  Robin J. Leach,et al.  Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer , 1993, Cell.

[89]  R. Kemler.  From cadherins to catenins: cytoplasmic protein interactions and regulation of cell adhesion. , 1993, Trends in genetics : TIG.

[90]  P. Correa,et al.  Human gastric carcinogenesis: a multistep and multifactorial process--First American Cancer Society Award Lecture on Cancer Epidemiology and Prevention. , 1992, Cancer research.

[91]  D. Griffin,et al.  An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations. , 1992, Journal of medical genetics.

[92]  Y. Maehara,et al.  Prognosis for surgically treated gastric cancer patients is poorer for women than men in all patients under age 50. , 1992, British Journal of Cancer.

[93]  W. Nelson,et al.  Biosynthesis of the cell adhesion molecule uvomorulin (E-cadherin) in Madin-Darby canine kidney epithelial cells. , 1991, The Journal of biological chemistry.

[94]  S. Altschul,et al.  Identification of FAP locus genes from chromosome 5q21. , 1991, Science.

[95]  J. McPherson,et al.  Identification of deletion mutations and three new genes at the familial polyposis locus , 1991, Cell.

[96]  Margaret Robertson,et al.  Identification and characterization of the familial adenomatous polyposis coli gene , 1991, Cell.

[97]  K. Kinzler,et al.  Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. , 1991, Science.

[98]  R. Seruca,et al.  Familial gastric polyposis revisited. Autosomal dominant inheritance confirmed. , 1991, Cancer genetics and cytogenetics.

[99]  R. Sassatelli,et al.  Familial occurrence of gastric cancer in the 2‐year experience of a population‐based registry , 1990, Cancer.

[100]  B. Vogelstein,et al.  A genetic model for colorectal tumorigenesis , 1990, Cell.

[101]  O. Blaschuk,et al.  Identification of a cadherin cell adhesion recognition sequence. , 1990, Developmental biology.

[102]  A. Mehregan,et al.  Trichilemmomas in Cowden's disease. , 1977, JAMA.

[103]  P. Laurén,et al.  THE TWO HISTOLOGICAL MAIN TYPES OF GASTRIC CARCINOMA: DIFFUSE AND SO-CALLED INTESTINAL-TYPE CARCINOMA. AN ATTEMPT AT A HISTO-CLINICAL CLASSIFICATION. , 1965, Acta pathologica et microbiologica Scandinavica.

[104]  B. Sokoloff.  Predisposition to cancer in the Bonaparte family , 1938 .

[105]  A. Tanigami,et al.  IQGAP1, a negative regulator of cell-cell adhesion, is upregulated by gene amplification at 15q26 in gastric cancer cell lines HSC39 and 40A , 2001, Journal of Human Genetics.

[106]  Josef Jiricny,et al.  Mediating mismatch repair , 2000, Nature Genetics.

[107]  H. Höfler,et al.  Identification of eleven novel tumor‐associated e‐cadherin mutations , 1999, Human mutation.

[108]  S. Markowitz,et al.  E‐cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer , 1999, Human mutation.

[109]  Heinz Höfler,et al.  Mutations of the human E‐cadherin (CDH1) gene , 1998, Human mutation.

[110]  J. Rossant,et al.  The tumor suppressor gene Smad4/Dpc4 is required for gastrulation and later for anterior development of the mouse embryo. , 1998, Genes & development.

[111]  S. Byers,et al.  Serine phosphorylation-regulated ubiquitination and degradation of beta-catenin. , 1997, The Journal of biological chemistry.

[112]  G. A. Alexander,et al.  Racial/ethnic patterns of cancer in the United States, 1988-1992. , 1996 .

[113]  J. Fraumeni,et al.  Family history and risk of stomach cancer in Italy. , 1994, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

[114]  H. Waldum,et al.  Classification of gastric carcinomas. , 1993, Human pathology.

[115]  C. la Vecchia,et al.  Trends of cancer mortality in Europe, 1955-1989: I, Digestive sites. , 1992, European journal of cancer.

[116]  E. Wynder,et al.  The decline in gastric cancer: epidemiology of an unplanned triumph. , 1986, Epidemiologic reviews.

[117]  J. Lehtola.  Family study of gastric carcinoma; With special reference to histological types. , 1978, Scandinavian journal of gastroenterology. Supplement.

[118]  John R. Christiansen.  The intestinal phase of gastric acid secretion in man. , 1978, Scandinavian journal of gastroenterology.

[119]  W J Macdonald,et al.  GASTRIC CARCINOMA. , 1912, Canadian Medical Association journal.