CDH1-related hereditary diffuse gastric cancer syndrome: Clinical variations and implications for counseling

International Journal of Cancer

Volumn 131, Issue 2, 2012, Pages 367-376

  Kluijt, Irma ^a   Siemerink, Ester J M ^b   Ausems, Margreet G E M ^c   Van Os, Theo A M ^d   De Jong, Daphne ^a   Simões Correia, Joana ^e,f   Van Krieken, J Han ^g   Ligtenberg, Marjolijn J ^g   Figueiredo, Joana ^e,h   Van Riel, Els ^c   Sijmons, Rolf H ^b   Plukker, John T M ^b   Van Hillegersberg, Richard ^c   Dekker, Evelien ^d   Oliveira, Carla ^e,h   Cats, Annemieke ^a   Hoogerbrugge, Nicoline ^g  

^a NETHERLANDS CANCER INSTITUTE   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF PORTO   (Portugal)

^f UNIVERSITY OF COIMBRA   (Portugal)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h University of Porto   (Portugal)

Author keywords

CDH1; clefts; hereditary diffuse gastric cancer; lobular breast cancer; prophylactic gastrectomy

Indexed keywords

ADULT; AGED; ARTICLE; CANCER GROWTH; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; E CADHERIN GENE; FEMALE; GASTRECTOMY; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; HETEROZYGOTE DETECTION; HISTOLOGY; HUMAN; HUMAN TISSUE; IN VITRO STUDY; MALE; MASTECTOMY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; ONSET AGE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; STOMACH CANCER; TUMOR SUPPRESSOR GENE;

ADOLESCENT; ADULT; AGED; BREAST NEOPLASMS; CADHERINS; CLEFT LIP; CLEFT PALATE; FEMALE; GASTRECTOMY; GENETIC COUNSELING; GENETIC VARIATION; HETEROZYGOTE; HUMANS; MALE; MASTECTOMY; MIDDLE AGED; MUTATION, MISSENSE; NEOPLASTIC SYNDROMES, HEREDITARY; STOMACH NEOPLASMS; YOUNG ADULT;

EID: 84860833106     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.26398     Document Type: Article

References (44)

1. Parkin DM, Bray F, Ferlay J, Pisani P,. Global cancer statistics, 2002. CA Cancer J Clin 2005; 55: 74-108.
2. Crew KD, Neugut AI,. Epidemiology of gastric cancer. World J Gastroenterol 2006; 12: 354-62.
3. Machado JC, Soares P, Carneiro F, Rocha A, Beck S, Blin N, Berx G, Sobrinho-Simoes M,. E-cadherin gene mutations provide a genetic basis for the phenotypic divergence of mixed gastric carcinomas. Lab Invest 1999; 79: 459-65.
4. Berx G, Becker KF, Höfler H, van Roy F,. Mutations of the human E-cadherin (CDH1) gene. Hum Mutat 1998; 12: 226-37.
5. Stone J, Bevan S, Cunningham D, Hill A, Rahman N, Peto J, Marossy A, Houlston RS,. Low frequency of germline E-cadherin mutations in familial and nonfamilial gastric cancer. Br J Cancer 1999; 79: 1935-7.
6. Caldas C, Carneiro F, Lynch HT, Yokota J, Wiesner GL, Powell SM, Lewis FR, Huntsman DG, Pharoah PD, Jankowski JA, MacLeod P, Vogelsang H, et al. Familial gastric cancer: overview and guidelines for management. J Med Genet 1999; 36: 873-80.
7. Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Guilford P, Blair V, Chung DC, Norton J, Ragunath K, Van Krieken JH, Dwerryhouse S, Caldas C,. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 2010; 47: 436-44.
8. Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P, Taite H, Scoular R, Miller A, Reeve AE,. E-cadherin germline mutations in familial gastric cancer. Nature 1998 Mar 26; 392: 402-5.
9. Kaurah P, Macmillan A, Boyd N, Senz J, De LA, Chun N, Suriano G, Zaor S, Van ML, Gilpin C, Nikkel S, Connolly-Wilson M, et al. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA 2007; 297: 2360-72.
10. Roviello F, Corso G, Pedrazzani C, Marrelli D, De FG, Berardi A, Garosi L, Suriano G, Vindigni C, De SA, Leoncini L, Seruca R, Pinto E,. Hereditary diffuse gastric cancer and E-cadherin: description of the first germline mutation in an Italian family. Eur J Surg Oncol 2007; 33: 448-51.
11. Rodriguez-Sanjuan JC, Fontalba A, Mayorga M, Bordin MC, Hyland SJ, Trugeda S, Garcia RA, Gomez-Fleitas M, Fernandez F, Caldas C, Fernandez-Luna JL,. A novel mutation in the E-cadherin gene in the first family with hereditary diffuse gastric cancer reported in Spain. Eur J Surg Oncol 2006; 32: 1110-3.
12. Zhu ZG, Yu YY, Zhang Y, Ji J, Zhang J, Liu BY, Chen XH, Lu Y, Jiang HS, Bu L, Hu LD, Kong XY,. Germline mutational analysis of CDH1 and pathologic features in familial cancer syndrome with diffuse gastric cancer/breast cancer proband in a Chinese family. Eur J Surg Oncol 2004; 30: 531-5.
13. 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 2003; 33: 17-20.
14. Oliveira C, Senz J, Kaurah P, Pinheiro H, Sanges R, Haegert A, Corso G, Schouten J, Fitzgerald R, Vogelsang H, Keller G, Dwerryhouse S, Grimmer D, et al. Germline CDH1 deletions in hereditary diffuse gastric cancer families. Hum Mol Genet 2009; 18: 1545-55.
15. Norton JA, Ham CM, Van DJ, Jeffrey RB, Longacre TA, Huntsman DG, Chun N, Kurian AW, Ford JM,. CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. Ann Surg 2007; 245: 873-9.
16. Huntsman DG, Carneiro F, Lewis FR, MacLeod PM, Hayashi A, Monaghan KG, Maung R, Seruca R, Jackson CE, Caldas C,. Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. N Engl J Med 2001; 344: 1904-9.
17. Chun YS, Lindor NM, Smyrk TC, Petersen BT, Burgart LJ, Guilford PJ, Donohue JH,. Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated? Cancer 2001; 92: 181-7.
18. Masciari S, Larsson N, Senz J, Boyd N, Kaurah P, Kandel MJ, Harris LN, Pinheiro HC, Troussard A, Miron P, et al. Germline E-cadherin mutations in familial lobular breast cancer. J Med Genet 2007; 44: 726-31.
19. 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. Gastroenterology 2001; 121: 1348-53.
20. Schrader KA, Masciari S, Boyd N, Wiyrick S, Kaurah P, Senz J, Burke W, Lynch HT, Garber JE, Huntsman DG,. Hereditary diffuse gastric cancer: association with lobular breast cancer. Fam Cancer 2008; 7: 73-82.
21. Suriano G, Yew S, Ferreira P, Senz J, Kaurah P, Ford JM, Longacre TA, Norton JA, Chun N, Young S, Oliveira MJ, Macgillivray B, et al. Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. Clin Cancer Res 2005; 11: 5401-9.
22. Richards FM, McKee SA, Rajpar MH, Cole TR, Evans DG, Jankowski JA, McKeown C, Sanders DS, Maher ER,. Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum Mol Genet 1999; 8: 607-10.
23. Gayther SA, Gorringe KL, Ramus SJ, Huntsman D, Roviello F, Grehan N, Machado JC, Pinto E, Seruca R, Halling K, MacLeod P, et al. Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. Cancer Res 1998; 58: 4086-9.
24. J. Wang, M.F. Wilkinson,. Site-directed mutagenesis of large (13-kb) plasmids in a single-PCR procedure, Biotechniques 2000; 29: 976-8.
25. Park CM, Reid PE, Walker DC, MacPherson BR,. A simple, practical 'swiss roll' method of preparing tissues for paraffin or methacrylate embedding. J Microsc 1987; 145: 115-20.
26. Suriano G, Oliveira C, Ferreira P, Machado JC, Bordin MC, De Wever O, Bruyneel EA, Moguilevsky N, Grehan N, Porter TR, Richards FM, 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 2003; 12: 575-82.
27. Rogers WM, Dobo E, Norton JA, Van DJ, Jeffrey RB, Huntsman DG, Kingham K, Chun N, Ford JM, Longacre TA,. Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications. Am J Surg Pathol 2008; 32: 799-809.
28. Oliveira C, de Bruin J, Nabais S, Ligtenberg M, Moutinho C, Nagengast FM, Seruca R, van Krieken H, Carneiro F,. Intragenic deletion of CDH1 as the inactivating mechanism of the wild-type allele in an HDGC tumour. Oncogene 2004; 23: 2236-40.
29. Brooks-Wilson AR, Kaurah P, Suriano G, Leach S, Senz J, Grehan N, Butterfield YS, Jeyes J, Schinas J, Bacani J, Kelsey M, Ferreira P, 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 2004; 41: 508-17.
30. Zheng HC, Li XH, Hara T, Masuda S, Yang XH, Guan YF, Takano Y,. Mixed-type gastric carcinomas exhibit more aggressive features and indicate the histogenesis of carcinomas. Virchows Arch 2008; 452: 525-34.
31. Barber M, Murrell A, Ito Y, Maia AT, Hyland S, Oliveira C, Save V, Carneiro F, Paterson AL, Grehan N, Dwerryhouse S, Lao-Sirieix P, Caldas C, Fitzgerald RC,. Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer. J Pathol 2008; 216: 295-306.
32. Humar B, Guilford P,. Hereditary diffuse gastric cancer: a manifestation of lost cell polarity. Cancer Sci 2009; 100: 1151-7.
33. Carneiro F, Huntsman DG, Smyrk TC, Owen DA, Seruca R, Pharoah P, Caldas C, Sobrinho-Simoes M,. Model of the early development of diffuse gastric cancer in E-cadherin mutation carriers and its implications for patient screening. J Pathol 2004; 203: 681-7.
34. Kawanowa K, Sakuma Y, Sakurai S, Hishima T, Iwasaki Y, Saito K, Hosoya Y, Nakajima T, Funata N,. High incidence of microscopic gastrointestinal stromal tumors in the stomach. Hum Pathol 2006; 37: 1527-35.
35. Keller G, Vogelsang H, Becker I, Hutter J, Ott K, Candidus S, Grundei T, Becker KF, Mueller J, Siewert JR, Hofler H,. Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation. Am J Pathol 1999; 155: 337-42.
36. Dutch Comprehensive Cancer Centres, www.iKCnet.nl. 2010.
37. Afonso N, Bouwman D,. Lobular carcinoma in situ. Eur J Cancer Prev 2008; 17: 312-6.
38. Frebourg T, Oliveira C, Hochain P, Karam R, Manouvrier S, Graziadio C, Vekemans M, Hartmann A, Baert-Desurmont S, Alexandre C, Lejeune DS, Marroni C, Martin C, et al. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. J Med Genet 2006; 43: 138-42.
39. Letra A, Menezes R, Granjeiro JM, Vieira AR,. AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts. Birth Defects Res A Clin Mol Teratol 2009; 85: 169-73.
40. McCulloch P, Nita ME, Kazi H, Gama-Rodrigues J,. Extended versus limited lymph nodes dissection technique for adenocarcinoma of the stomach. Cochrane Database Syst Rev 2003; CD001964.
41. Hoogerbrugge N, Kamm YJ, Bult P, Landsbergen KM, Bongers EM, Brunner HG, Bonenkamp HJ, de Hullu JA, Ligtenberg MJ, Boetes C,. The impact of a false-positive MRI on the choice for mastectomy in BRCA mutation carriers is limited. Ann Oncol 2008; 19: 655-9.
42. Dao T, Kuhn J, Ehmer D, Fisher T, McCarty T,. Pregnancy outcomes after gastric-bypass surgery. Am J Surg 2006; 192: 762-6.
43. Karmon A, Sheiner E,. Pregnancy after bariatric surgery: a comprehensive review. Arch Gynecol Obstet 2008; 277: 381-8.
44. Kaurah P, Fitzgerald R, Dwerryhouse S, Huntsman DG,. Pregnancy after prophylactic total gastrectomy. Fam Cancer 2010; 9: 331-4.