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Review

Genetic screening for hereditary diffuse gastric cancer

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Pages 201-215 | Published online: 09 Jan 2014

References

  • Howson CP, Hiyama T, Wynder EL. The decline in gastric cancer: epidemiology of an unplanned triumph. Epiclemiol Rev 8, 1–27 (1986).
  • La Vecchia C, Lucchini F, Negri E eta]. Trends of cancer mortality in Europe, 1955–1989:1, digestive sites. Eur. Cancer 28(1), 132–235 (1992).
  • Miller BA, Kolonel LN, Bernstein L etal (eds). Racial/Ethnic Patterns of Cancer in the United States 1988–1992, National Cancer Institute. MHPub. No. 96–4104, Bethesda, MD, USA (1996).
  • Black RJ, Bray F, Ferlay J, Parkin DM. Cancer incidence and mortality in the European Union: cancer registry data and estimates of national incidence for 1990. Eur.j Cancer33(7), 1075–1107 (1997).
  • Zanghieri G, Di Gregorio C, Sacchetti C et al Familial occurrence of gastric cancer in the 2-year experience of a population-based registry. Cancer 66 (9), 2047-2051 (1990).
  • Goldgar DE, Easton DF, Cannon-Albright LA, Skolnick MET. Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. j Natl Cancer Inst. 86(21), 1600–1608 (1994).
  • Maser MJ. Linking Helicobacter pylori to gastric cancer. Nature Merl 6(4), 376–377 (2000).
  • Ekström AM, Hansson LE, Signorello LB et al Decreasing incidence of both major histologic subtypes of gastric adenocarcinoma — a population-based study in Sweden. BE J. Cancer 83(3), 391–396 (2000).
  • Palli D, Galli M, Caporaso NE etal Family history and risk of stomach cancer in Italy. Cancer Epiclemiol Biomarker s Prey. 3(1), 15–18 (1994).
  • Carneiro E Classification of gastric carcinomas. CUI7: Diag. Pathol 4,51-59 (1997). iiLauren P The two histological main types of gastric carcinoma: diffuse and so-called intestinal-type carcinoma. An attempt at a histo-clinical classification. Acta Pathol Mcrobiol Scam 64,31–49 (1965).
  • Correa P Human gastric carcinogenesis: a multistep and multifactorial process — First American Cancer Society Award Lecture on Cancer Epidemiology and Prevention. Cancer Res. 52(24), 6735–6740 (1992).
  • Maehara Y, Watanabe A, Kakeji Y etal Prognosis for surgically treated gastric cancer patients is poorer for women than men in all patients under age 50. BE j Cancer65(3), 417–420 (1992).
  • Fuchs CS, Mayer RJ. Gastric carcinoma. N Engl Merl 333(1), 32–41 (1995).
  • Caldas C, Carneiro F, Lynch HT etal Familial gastric cancer: overview and guidelines for management. J. Merl Genet. 36(12), 873–880 (1999). Defines the guidelines for management of hereditary diffuse gastric cancer (HDGC).
  • Sokoloff B. Predisposition to cancer in the Bonaparte family. A117. I Surg. 40,673-678 (1938).
  • Seruca R, Carneiro F, Castedo S eta]. Familial gastric polyposis revisited. Autosomal dominant inheritance confirmed. Cancer Genet. Cytogenet. 53(1), 97–100 (1991).
  • Guilford P, Hopkins J, Harraway J et al E- cadherin germline mutations in familial gastric cancer. Nature 392(6674) 402–405 (1998). Describes for the first time CDH1 germline mutations in HDGC.
  • Gayther SA, Gorringe KL, Ramus SJ etal Identification of germline E-cadherin mutations in gastric cancer families of European origin. Cancer Res. 58(18), 4086–4089 (1998).
  • Richards FM, McKee SA, Rajpar MH et al. Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum. MoL Genet. 8(4), 607–610 (1999).
  • Guilford PJ, Hopkins JB, Grady WM eta]. E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. Hum. Mutat. 14(3), 249–255 (1999).
  • Lehtola J. Family study of gastric carcinoma with special reference to histological types. £and.j Gastroenterol 13\(Suppl. 50), 1–73 (1978).
  • Shinmura K, Kohno T, Takahashi M eta]. Familial gastric cancer: clinicopathological characteristics, RER phenotype and germline p53 and E-cadherin mutations. Caminogenesis 20 (6), 1127–1131 (1999).
  • Bevan S, Houlston RS. Genetic predisposition to gastric cancer. QJM92(1), 5–10 (1999).
  • El-Omar EM, Carrington M, Chow WH eta]. Interleukin-1 polymorphisms associated with increased risk of gastric cancer. Nature 404(6776), 398–402 (2000).
  • Machado JC, Pharoah P, Sousa S eta]. Interleukin-lb and interleukin-1 receptor antagonist gene polymorphisms are associated with increased risk of gastric carcinoma. Gastroenterology121 (4), 823–829 (2001).
  • Yea SS, Yang YI, Jang WH etal Association between TNF-a promoter polymorphism and Helicobacter pylori cagA subtype infection. j Clin. Pathol 54(9), 703–706 (2001).
  • Berx G, Cleton-Jansen AM, Nollet F et al E-cadherin is a tumor/invasion suppressor gene mutated in human lobular breast cancers. EMI30 14(24), 6107–6115 (1995).
  • Shore EM, Nelson WJ. Biosynthesis of the cell adhesion molecule uvomorulin (E-cadherin) in Madin-Darby canine kidney epithelial cells. j Biol. Chem. 266(29), 19672–19680 (1991).
  • Berx G, Becker KF, Hofler H, van Roy Mutations of the human E-cadherin (CDH1) gene. Hum. Mutat. 12(4), 226–237 (1998).
  • •Review of CDH1 somatic mutations.
  • Kemler R. From cadherins to catenins: cytoplasmic protein interactions and regulation of cell adhesion. Trends Genet. 9(9), 317–321 (1993).
  • Overduin M, Harvey TS, Bagby S eta]. Solution structure of the epithelial cadherin domain responsible for selective cell adhesion. Science 267 (5196), 386–389 (1995).
  • Shapiro L, Fannon AM, Kwong PD etal Structural basis of cell—cell adhesion by cadherins. Nature 374 (6520), 327–337 (1995).
  • Nagar B, Overduin M, Ikura M, Rini JM. Structural basis of calcium-induced E-cadherin rigidification and dimerization. Nature 380 (6572), 360–364 (1996) .
  • Blaschuk OW Sullivan R, David S, Pouliot Y. Identification of a cadherin cell adhesion recognition sequence. Dev. Biol. 139(1), 227–229 (1990).
  • Leckband D, Sivasankar S. Mechanism of homophilic cadherin adhesion. CI.117: Opin. Cell Biol. 12(5), 587–592 (2000).
  • Reynolds AB, Daniel J, McCrea PD etal Identification of a new catenin: the tyrosine kinase substrate p120cas associates with E-cadherin complexes. Mol Cell Bio1.14(12), 8333–8342 (1994).
  • Willert K, Nusse R. P-catenin: a key mediator of Wnt signaling. G117: Opin. Genet. Dev. 8(1), 95–102 (1998).
  • Polakis P Wnt signaling and cancer. Genes Dev. 14(15), 1837–1851 (2000).
  • Lame L, Ohsugi M, Hirchenhain J, Kemler R. E-cadherin null mutant embryos fail to form a trophectoderm epithelium. Proc. Natl Acad. Sci. USA 91(17), 8263–8267 (1994).
  • Riethmacher D, Brinkmann V, Birchmeier C. A targeted mutation in the mouse E-cadherin gene results in defective preimplantation development. Proc. Natl Acad. Sci. USA 92 (3), 855–859 (1995).
  • Becker IKF, Atkinson MJ, Reich U etal E- cadherin gene mutations provide clues to diffuse type gastric carcinomas. Cancer Res. 54(14), 3845–3852 (1994).
  • Becker KF, Reich U, Schott C etal Identification of eleven novel tumor-associated E-cadherin mutations. Mutations in brief no. 215. Online Hum. Mutat. 13(2), 171 (1999).
  • Muta H, Noguchi M, Kanai Y etal E- cadherin gene mutations in signet ring cell carcinoma of the stomach. Jpnj Cancer Res. 87(8), 843–848 (1996).
  • Machado JC, Soares P, Carneiro F eta]. E- cadherin gene mutations provide a genetic basis for the phenotypic divergence of mixed gastric carcinomas. Lab. Invest. 79(4) 459–465 (1999).
  • Tamura G, Sakata K, Nishizuka S etal Inactivation of the E-cadherin gene in primary gastric carcinomas and gastric carcinoma cell lines. Jpnj Cancer Res. 87(11), 1153–1159 (1996).
  • Oda T, Kanai Y, Oyama T etal E-cadherin gene mutations in human gastric carcinoma cell lines. Proc. Natl Acad. Sci. USA 91(5), 1858–1862 (1994).
  • Graff JR, Herman JG, Lapidus RG etal E- cadherin expression is silenced by DNA hypermethylation in human breast and prostate carcinomas. Cancer Res. 55(22), 5195–5199 (1995).
  • Hennig G, Behrens J, Truss M etal Progression of carcinoma cells is associated with alterations in chromatin structure and factor binding at the E-cadherin promoter in vivo. Oncogenell(3), 475–484 (1995).
  • Machado JC, Oliveira C, Carvalho R etal E-cadherin gene (CDH1) promoter methylation as the second hit in sporadic diffuse gastric carcinoma. Oncogene 20(12), 1525–1528 (2001).
  • Iida S, Akiyama Y, Ichikawa W etal Infrequent germ-line mutation of the E-cadherin gene in Japanese familial gastric cancer kindreds. Clin. Cancer Res. 5(6), 1445–1447 (1999).
  • Yoon IKA, Ku JL, Yang HK etal Germline mutations of E-cadherin gene in Korean familial gastric cancer patients. j Hum. Genet. 44(3), 177–180 (1999).
  • Keller G, Vogelsang H, Becker I eta]. Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation. Am j Athol 155(2), 337–342 (1999).
  • •Describes a family with lobular breast and diffuse gastric cancer.
  • Avizienyte E, Launonen V, Salovaara R, Kiviluoto T, Aaltonen L. E-cadherin is not frequently mutated in hereditary gastric cancer. 1 Merl Genet. 38(1), 49–52 (2001).
  • Dussaulx-Garin L, Blayau M, Pagenault M etal A new mutation of E-cadherin gene in familial gastric linitis plastica cancer with extra-digestive dissemination. Eur Gastroenterol Hepatol 13(6), 711–715 (2001).
  • Humar B, Toro T, Graziano F etal Novel germline CDH1 mutations in hereditary diffuse gastric cancer families. Hum. Mutat. 19(5), 518–525 (2002).
  • Oliveira C, Bordin MC, Grehan N etal Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. Hum. Mutat. 19(5),510–517 (2002).
  • ••Describes CDH1 germline mutationsrestricted to HDGC families.
  • Jonsson BA, Bergh A, Stattin p, Emmanuelsson M, Gronberg H. Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer. Int. Cancer 98 (6), 838–843 (2002) .
  • Yabuta T, Shinmura K, Tani M etal E- cadherin gene variants in gastric cancer families whose probands are diagnosed with diffuse gastric cancer. Int. j Cancer 101(5), 434–441 (2002).
  • Grady WM, Willis J, Guilford PJ etal Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer. Nature Genet. 26(1), 16–17 (2000).
  • ••Describes methylation of CDH1 promoteras the second genetic hit in HDGC.
  • Li LC, Chui RM, Sasaki M etal A single nucleotide polymorphism in the E-cadherin gene promoter alters transcriptional activities. Cancer Res. 60(4),873–876 (2000).
  • Wu MS, Huang SP, Chang YT etal Association of the -160 C -> a promoter polymorphism of E-cadherin gene with gastric carcinoma risk. Cancer 94(5), 1443–1448 (2002).
  • Pharoah PD, Oliveira C, Machado JC et al CDH1 c-160a promotor polymorphism is not associated with risk of stomach cancer. Int. j Cancer 101(2)196-197 (2002).
  • Vasen HF, Watson P, Mecidin JP, Lynch HT New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116 (6), 1453–1456 (1999).
  • Varley JM, McGown G, Thorncroft M eta]. An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. j Merl Genet. 32(12), 942–945 (1995).
  • Vasen HF, Sanders EA, Taal Bg et al The risk of brain tumors in hereditary non-polyposis colorectal cancer (HNPCC). Int.j Cancer65(4), 422–425 (1996).
  • Aarnio M, Salovaara R, Aaltonen LA, Mecldin JP, Jarvinen HJ. Features of gastric cancer in hereditary nonpolyposis colorectal cancer syndrome. Int. j Cancer74(5), 551–555 (1997).
  • Lindor NM, Greene MH. The concise handbook of family cancer syndromes. Mayo Familial Cancer Program. j Natl Cancer Inst. 90(14), 1039–1071 (1998).
  • Leach FS, Nicolaides NC, Papadopoulos N et al Protein Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75 (6), 1215–1225 (1993).
  • Bronner CE, Baker SM, Morrison PT et al Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368(6468), 258–261 (1994).
  • Papadopoulos N, Nicolaides NC, Wei YF etal Mutation of a mutL homolog in hereditary colon cancer. Science 263(5153), 1625–1629 (1994).
  • Bapat B, Noorani H, Cohen Z et al Cost comparison of predictive genetic testing versus conventional clinical screening for familial adenomatous polyposis. Gut 44(5), 698–703 (1999).
  • Wijnen J, van der Klift H, Vasen H etal MSH2 genomic deletions are a frequent cause of HNPCC. Nature Genet. 20(4), 326–328 (1998).
  • Jiricny J. Mediating mismatch repair. Nature Genet. 24(1), 6–8 (2000).
  • Papadopoulos N, Nicolaides NC, Liu B etal Mutations of GTBP in genetically unstable cells. Science 268(5219), 1915–1917 (1995).
  • Miyaki M, Konishi M, Tanaka K etal Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nature Genet. 17(3), 271–272 (1997).
  • Varley JM, McGown G, Thomcroft M etal Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. Cancer Res. 57(15), 3245–3252 (1997).
  • Bell DW, Varley JM, Szydlo TE etal Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 286(5449), 2528–2531 (1999).
  • Groden J, Thliveris A, Samowitz W et al Identification and characterization of the familial adenomatous polyposis coli gene. Ce1166(3), 589–600 (1991).
  • Nishisho I, Nakamura Y, Miyoshi Y etal Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 253(5020), 665–669 (1991).
  • Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Ce//61(5), 759–767 (1990).
  • Joslyn G, Carlson M, Thliveris A etal Identification of deletion mutations and three new genes at the familial polyposis locus. Ce1166(3), 601–613 (1991).
  • Kinzler KW, Nilbert MC, Su LK etal Identification of FAP locus genes from chromosome 5q21. Science 253(5020), 661–665 (1991).
  • Cross I, Delhanty J, Chapman P etal An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations. j Merl Genet. 29(3), 175–179 (1992).
  • Mehenni H, Blouin JL, Radhakrishna U etal Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. Am.j Hum. Genet. 61(6), 1327–1334 (1997).
  • Brownstein MET, Mehregan AH, Bilowski JB. Trichilemmomas in Cowden's disease. 161/1//A 238(1), 26 (1977) .
  • Liaw D, Marsh DJ, Li J etal Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nature Genet. 16(1), 64–67(1997).
  • Marsh DJ, Dahia PL, Caron S etal Germline P7ENmutations in Cowden syndrome-like families. j Merl Genet. 35(11), 881–885 (1998).
  • Snaddon J, Parkinson EK, Craft JA, Bartholomew C, Fulton R. Detection of functional PTEN lipid phosphatase protein and enzyme activity in squamous cellcarcinomas of the head and neck, despite loss of heterozygosity at this locus. Br. Cancer84(12), 1630–1634 (2001).
  • Huntsman DG, Carneiro F, Lewis FR etal Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. N Eng. I Med. 344(25), 1904–1909 (2001). Demonstrates the severe limitations of the clinical screening for DGC in asymptomatic carriers of CDHlgermline mutations.
  • Chun YS, Lindor NM, Smyrk TC etal. Germline E-cadherin gene mutations. Cancer92(1), 181–187 (2001).
  • Berx G, Cleton-Jansen AM, Strumane K etal E-cadherin is inactivated in a majority of invasive human lobular breast cancers by truncation mutations throughout its extracellular domain. Oncogene 13(9), 1919–1925 (1996).
  • Pharoah PD, Guilford P, Caldas C. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroentemlogy121(6), 1348–1353. (2001). Paper providing estimates of the cumulative risk of gastric and breast cancer by age in CDH1 mutation carriers.
  • Conacci-Sorrell M, Zhurinsky J, Ben-Ze'ev A. The cadherin-catenin adhesion system in signaling and cancer. j Clin. Invest. 109(8), 987–991 (2002).
  • Cano A, Perez-Moreno MA, Rodrigo I et al The transcription factor snail controls epithelial-mesenchymal transitions by repressing E-cadherin expression. Nature Cell. Biol. 2(2), 76–83 (2000).
  • Comijn J, Berx G, Vermassen P, Verschueren K, van Grunsven L, Bruyneel E, Mareel M, Huylebroeck D, van Roy F. The two-handed E box binding zinc finger protein SIP1 downregulates E-cadherin and induces invasion. Mal Cell 7 (6), 1267–1278 (2001).
  • Hajra KM, Chen DY, Fearon ER. The SLUG zinc-finger protein represses E-cadherin in breast cancer. Cancer Res 62(6),1613–1618 (2002).
  • Ino Y, Gotoh M, Sakamoto M, Tsukagoshi K, Hirohashi S. Dysadherin, a cancer-associated cell membrane glycoprotein, downregulates E-cadherin and promotes metastasis. Proc. Natl Acad. Sc]. USA 99(1), 365–370 (2002).
  • Polakis P Wnt signaling and cancer. Genes Dev. 14(15),1837–1851 (2000).
  • Aberle H, Bauer A, Stappert J, Kispert A, Kemler R. fi-catenin is a target for the ubiquitin-proteasome pathway. EM130 I 16(13), 3797–3804 (1997).
  • Orford K, Crockett C, Jensen JP, Weissman AM, Byers SW Serine phosphorylation-regulated ubiquitination and degradation of beta-catenin. J Biol. Chem. 272 (40), 24735–24738 (1997).
  • Huber AH, Weis WI. The structure of the P-catenin/E-cadherin complex and the molecular basis of diverse ligand recognition by fi-catenin. Cell 105 (3), 391–402 (2001).
  • Fujita Y, Krause G, Scheffner M et al Hakai, a c-Cbl-like protein, ubiquitinates and induces endocytosis of the E-cadherin complex. Natum Cell Biol. 4(3), 222–231 (2002).
  • Sugimoto N, Imoto I, Fukuda Y et al IQGAP1, a negative regulator of cell—cell adhesion, is upregulated by gene amplification at 15q26 in gastric cancer cell lines H5C39 and 40A. J Hum. Genet. 46(1), 21–25 (2001).
  • Takemoto H, Doki Y, Shiozaki H eta]. Localization of IQGAP1 is inversely correlated with intercellular adhesion mediated by e-cadherin in gastric cancers. hit.j Cancer 91 (6), 783–788 (2001).
  • Li S, Wang Q, Chaldadar A, Bronson RT, Bernards A. Gastric hyperplasia in mice lacking the putative Cdc42 effector IQGAP1. Mol Cell Biol.697–701 (2000).
  • Peng YF, Mandai K, Nakanishi H etal 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. Oncogene 21(26), 4108–4119 (2002).
  • Ishii H, Baffa R, Numata SI eta]. The FEZ1 gene at chromosome 8p22 encodes a leucine-zipper protein and its expression is altered in multiple human tumors. Proc. Natl Acad. Sc]. USA 96(7), 3928–3933 (1999).
  • Vecchione A, Ishii H, Shiao YH eta]. Fez]] lzts 1 alterations in gastric carcinoma. Clin. Cancer Res. 7(6), 1546–1552 (2001).
  • Ishii H, Vecchione A, Murakumo Y etal FEZ1/LZTS1 gene at 8p22 suppresses cancer cell growth and regulates mitosis. Proc. Natl Acad. Sci. USA 98(18), 10374–10379 (2001).
  • Sirard C, de la Pompa JL, Elia A eta]. The tumor suppressor gene Smad4/Dpc4 is required for gastrulation and later for anterior development of the mouse embryo. Genes Dev. 12(1), 107–119 (1998).
  • Takaku K, Miyoshi H, Matsunaga A etal Gastric and duodenal polyps in Smad4 (Dpc4) knockout mice. Cancer Res. 59(24), 6113–6117 (1999).
  • Holliston R, Bevan S, Williams A eta]. Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome but only account for a minority of cases. Hum. Mal Genet. 7(12), 1907–1912 (1998).
  • Howe JR, Roth S, Ringold JC eta]. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 280(5366), 1086–1088 (1998).
  • Li QL, Ito K, Sakakura C eta]. Causal relationship between the loss of RUNX3 expression and gastric cancer. Ce11109(1), 113–124 (2002).
  • Kischkel PC, Lawrence DA, Tinel A etal Death receptor recruitment of endogenous caspase-10 and apoptosis initiation in the absence of caspase-8. j Biol. Chem. 276(49), 46639–46646 (2001).
  • Park WS, Lee JH, Shin MS. Inactivating mutations of the caspase-10 gene in gastric cancer. Oncogene 21(18), 2919–2925 (2002).

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