Genetics of hereditary diffuse gastric cancer: Progress and future challenges

Future Oncology

Volumn 2, Issue 3, 2006, Pages 363-370

  Suriano, Gianpaolo ^a   Ferreira, Paulo ^a   Mateus, Ana Rita ^a   Correia, Joana ^a   Henriques, Lara ^a   Seruca, Raquel ^a  

^a UNIVERSITY OF PORTO   (Portugal)

Author keywords

Candidate genes; E cadherin; Gastric cancer; Germline; Hereditary diffuse; Mutations; Prophylactic gastrectomy

Indexed keywords

UVOMORULIN;

AMINO ACID SUBSTITUTION; CANCER GENETICS; CARCINOGENESIS; COMPUTER MODEL; EXON; FAMILIAL CANCER; FAMILY; GASTRECTOMY; GASTROSCOPY; GENETIC CONSERVATION; GENETIC COUNSELING; GERM LINE; HETEROZYGOTE; HUMAN; IN VITRO STUDY; MISSENSE MUTATION; NONHUMAN; PATHOGENESIS; PREDICTION; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; STOMACH CANCER;

GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; NEOPLASTIC SYNDROMES, HEREDITARY; STOMACH NEOPLASMS;

EID: 33745501168     PISSN: 14796694     EISSN: 17448301     Source Type: Journal    
DOI: 10.2217/14796694.2.3.363     Document Type: Review

References (39)

1. Lauren 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. Microbiol. Scand. 64, 31-49 (1965).
2. La Vecchia C, Lucchini F, Negri E, Boyle P, Maisonneuve P, Levi F: Trends of cancer mortality in Europe, 1955-1989: I, digestive sites. Eur. J. Cancer 28(1), 132-235 (1992).
3. 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).
4. Palli D, Galli M, Caporaso NE et al.: Family history and risk of stomach cancer in Italy. Cancer Epidemiol. Biomarkers Prev. 3(1), 15-18 (1994).
5. Scartozzi M, Galizia E, Freddari F, Berardi R, Cellerino R, Cascinu S: Molecular biology of sporadic gastric cancer: prognostic indicators and novel therapeutic approaches. Cancer Treat. Rev. 30(25), 451-459 (2004).
6. Lynch HT, Grady W, Suriano G, Huntsman D: Gastric cancer: new genetic developments. J. Surg. Oncol. 90(3), 114-133 (2005).
7. 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).
8. D'Souza-Schorey C: Disassembling adherens junctions: breaking up is hard to do. Trends Cell Biol. 15(1), 19-26 (2005).
9. Bryant DM, Stow JL: The ins and outs of E-cadherin trafficking. Trends Cell Biol. 14(8), 427-434 (2004).
10. Mareel M, Leroy A: Clinical, cellular, and molecular aspects of cancer invasion. Physiol. Rev. 83(2), 337-376 (2003).
11. Berx G, Becker KF, Hofler H, van Roy F: Mutations of the human E-cadherin (CDH1) gene. Hum. Mutat. 12(4), 226-237 (1998).
12. Guilford P, Hopkins J, Harraway J et al.: E-cadherin germline mutations in familial gastric cancer. Nature 392(6674), 402-405 (1998).
13. Pharoah PD, Guilford P, Caldas C; International Gastric Cancer Linkage Consortium: incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gartroenterology 121(6), 1348-1353 (2001).
14. Oliveira C, Seruca R, Carneiro F: Genetics, pathology and clinics of familial gastric cancer. Virch. Arch. (2006) (In press).
15. Caldas C, Carneiro F, Lynch HT et al.: Familial gastric cancer: overview and guidelines for management. J. Med. Genet. 36(12), 873-880 (1999).
16. Brooks-Wilson AR, Kaurah P, Suriano G et al.: Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J. Med. Genet. 41(7), 508-517 (2004).
17. Suriano G, Yew S, Ferreira P et al.: Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. Clin. Cancer Res. 11(15), 5401-5419 (2005).
18. Huntsman DG, Carneiro F, Lewis FR et al.: Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. N. Engl. J. Med. 344(25), 1904-1919 (2001).
19. Chun YS, Lindor NM, Smyrk TC et al.: Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated? Cancer 92(1), 181-187 (2001).
20. Blair V, Martin I, Shaw D et al.: Hereditary diffuse gastric cancer: diagnosis and management. Clin. Gastroenterol. Hepatol. 4(3), 262-275 (2006).
21. Shaw D, Blair V, Framp A et al.: Chromoendoscopic surveillance in hereditary diffuse gastric cancer: an alternative to prophylactic gastrectomy? Gut 54(4), 461-468 (2005).
22. Fleming MA, Potter JD, Ramirez CJ, Ostrander GK, Ostrander EA: Understanding missense mutations in the BRCA1 gene: an evolutionary approach. Proc. Natl Acad. Sci. USA 100(3), 1151-1156 (2003).
23. Raevaara TE, Korhonen MK, Lohi H et al.: Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology 129(2), 537-549 (2005).
24. Shinmura K, Kohno T, Takahashi M et al.: Familial gastric cancer: clinicopathological characteristics, RER phenotype and germline p53 and E-cadherin mutations. Carcinogenesis 20(6), 1127-1131 (1999).
25. Avizienyte E, Launonen V, Salovaara R, Kiviluoto T, Aaltonen LA: E-cadherin is not frequently mutated in hereditary gastric cancer. J. Med. Genet. 38(1), 49-52 (2001).
26. Yoon KA, Ku JL, Yang HK, Kim WH, Park SY, Park JG: Germilne mutations of E-cadherin gene in Korean familial gastric cancer patients. J. Hum. Genet. 44(3), 177-180 (1999).
27. Kim HC, Wheeler JM, Kim JC et al.: The E-cadherin gene (CDH1) variants T340A and L599V in gastric and colorectal cancer patients in Korea. Gut 47(2), 262-267 (2000).
28. Oliveira C, Bordin MC, Grehan N et al.: Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. Hum. Mutat. 19(5), 510-517 (2002).
29. Wang Y, Song JP, Ikeda M, Shinmura K, Yokota J, Sugimura H: Ile-Leu substitution (I415L) in germline E-cadherin gene (CDH1) in Japanese familial gastric cancer. Jpn J. Clin. Oncol. 33(1), 17-20 (2003).
30. Keller G, Vogelsang H, Becker I et al.: 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), E89 (2004).
31. Salahshor S, Hou H, Diep CB et al.: A germline E-cadherin mutation in a family with gastric and colon cancer. Int. J. Mol. Med. 8(4), 439-443 (2001).
32. Suriano G, Oliveira C, Ferreira P et al.: Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands. Hum. Mol. Genet. 12(5), 575-582 (2003).
33. Oliveira C, Ferreira P, Nabais S et al.: 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 (2004).
34. Yabuta T, Shinmura K, Tani M et al.: E-cadherin gene variants in gastric cancer families whose probands are diagnosed with diffuse gastric cancer. Int. J. Cancer 101(5), 434-441 (2002).
35. Suriano G, Mulholland D, de Wever O et al.: The intracellular E-cadherin germline mutation V832 M lacks the ability to mediate cell-cell adhesion and to suppress invasion. Oncogene 22(36), 5716-5719 (2003).
36. Suriano G, Oliveira MJ, Huntsman D et al.: 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. 12(22), 3007-3016 (2003).
37. Ferreira P, Oliveira MJ, Beraldi E et al.: Loss of functional E-cadherin renders cells more resistant to the apoptotic agent taxol in vitro. Exp. Cell Res. 310(1), 99-104 (2005).
38. Vecsey-Semjen B, Becker KF, Sinski A et al.: Novel colon cancer cell lines leading to better understanding of the diversity of respective primary cancers. Oncogene 21(30), 4646-4662 (2002).
39. Suriano G, Vrcelj N, Senz J et al.: β-catenin (CTNNB1) gene amplification: a new mechanism of protein overexpression in cancer. Genes Chromosomes Cancer 42(3), 238-246 (2005).