Hereditary diffuse gastric cancer: A family diagnosis and treatment

Clinical Medicine and Research

Volumn 11, Issue 1, 2013, Pages 36-41

  Onitilo, Adedayo A ^a   Aryal, Govinda ^a   Engel, Jessica M ^a  

^a MARSHFIELD CLINIC   (United States)

Author keywords

CDH1 gene mutation; E cadherin; Genetic testing; High disease expression; Prophylactic gastrectomy

Indexed keywords

BEVACIZUMAB; DOCETAXEL; EPIRUBICIN; FLUOROURACIL; IRINOTECAN; OXALIPLATIN; UVOMORULIN;

ABDOMINAL PAIN; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CANCER DIAGNOSIS; CASE REPORT; CHOLECYSTECTOMY; CHOLELITHIASIS; COMPUTER ASSISTED TOMOGRAPHY; CONTINUOUS INFUSION; DYSPHAGIA; EARLY DIAGNOSIS; EPIGASTRIC PAIN; ESOPHAGOGASTRODUODENOSCOPY; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; HEREDITARY DIFFUSE GASTRIC CANCER; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INTESTINE RESECTION; MALE; MULTIPLE CYCLE TREATMENT; NAUSEA; PERIPHERAL NEUROPATHY; REFLUX ESOPHAGITIS; RISK FACTOR; SPLENECTOMY; STOMACH BIOPSY; STOMACH CANCER; TOTAL STOMACH RESECTION; VISCERAL METASTASIS; VOMITING;

ADENOCARCINOMA; CADHERINS; GASTRECTOMY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; STOMACH NEOPLASMS;

EID: 84874140351     PISSN: 15394182     EISSN: 15546179     Source Type: Journal    
DOI: 10.3121/cmr.2012.1071     Document Type: Article

References (27)

1. Kamangar F, Dores GM, Anderson WF. Patterns of cancer incidence, mortality and prevalence across five continents: defining priorities to reduce cancer disparities in different geographic regions of the world. J Clin Oncol 2006; 24:2137-2150.
2. Pandalai PK, Lauwers GY, Chung DC, Patel D, Yoon SS. Prophylactic total gastrectomy for individuals with germline CDH1 mutation. Surgery 2011;149:347-355.
3. National Cancer Institute. A snapshot of stomach cancer. 2011. Available at: http://www.cancer.gov/aboutnci/servingpeople/snapshots/stomach.pdf. Accessed April 6, 2012.
4. Lynch HT, Kaurah P, Wirtzfeld D, Rubinstein WS, Weissman S, Lynch JF, Grady W, Wiyrick S, Senz J, Huntsman DG. Hereditary diffuse gastric cancer: diagnosis, genetic counseling and prophylactic total gastrectomy. Cancer 2008;112:2655-2663.
5. Ghaffari SR, Rafati M, Sabokbar T, Dastan J. A novel truncating mutation with the E-cadherin gene in the first Iranian family with hereditary diffuse gastric cancer. Eur J Surg Oncol 2010;36:559-562.
6. 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; International Gastric Cancer Linkage Consortium. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 2010;47:436-444.
7. Hackenson D, Edelman DA, McGuire T, Weaver DW, Webber JD Prophylactic laparoscopic gastrectomy for hereditary diffuse gastric cancer: a case series in a single family. JSLS 2010;14:348-352.
8. Wilcox R, Perpich M, Noffsinger A, Posner MC, Cooper K Hereditary diffuse gastric cancer: multidisciplinary case report with review of the literature. Patholog Res Int 2011;2011:845821.
9. Oliveira C, Seruca R, Carneiro F. Genetics, pathology and clinics of familial gastric cancer. Int J Surg Pathol 2006;14:21-33.
10. Jakubowska A, Lawniczak M, Wojnarska B, Cybulski C, Huzarski T, Byrski T, Tołoczko-Grabarek A, Jaworska K, Durda K, Starzyńska T, Lubiński J. CDH1 gene mutations do not contribute in hereditary diffuse gastric cancer in Poland. Fam Cancer 2010;9:605-608.
11. Matsukuma KE, Mullins FM, Dietz L, Zehnder JL, Ford JM, Chun NM, Schrijver I. Hereditary diffuse gastric cancer due to a previously undescribed CDH1 splice site mutation. Hum Pathol 2010;41:1200-1203.
12. Graziano F, Humar B, Guilford P. The role of the E-cadherin gene (CDH1) in diffuse gastric cancer susceptibility: from the laboratory to clinical practice. Ann Oncol 2003; 14:1705-1713.
13. Yamamoto E, Hiromu S, Takamaru H, Yamamoto H, Toyota M, Shinomura Y. Role of DNA methylation in the development of diffuse-type gastric cancer. Digestion 2011;83:241-249.
14. da Cunha CB, Oliveira C, Wen X, Gomes B, Sousa S, Suriano G, Grellier M, Huntsman DG, Carneiro F, Granja PL, Seruca R. De novo expression on CD44 variants in sporadic and hereditary gastric cancer. Lab Invest 2010;90:1604-1614.
15. Suriano G, Yew S, Ferreira P, Senz J, Kaurah P, Ford JM, Longacre TA, Norton JA, Chun N, Young S, Oliveira MJ, Macgillivray B, Rao A, Sears D, Jackson CE, Boyd J, Yee C, Deters C, Pai GS, Hammond LS, McGivern BJ, Medgyesy D, Sartz D, Arun B, Oelschlager BK, Upton MP, Neufeld--Kaiser W, Silva OE, Donenberg TR, Kooby DA, Sharma S, Jonsson BA, Gronberg H, Gallinger S, Seruca R, Lynch H, Huntsman DG. Characterization of a recurrent germline mutation of the E-cadherin gene: implications for genetic testing and clinical management. Clin Cancer Res 2005;11:5401-5409.
16. Blair V, Martin I, Shaw D, Winship I, Kerr D, Arnold J, Harawira P, McLeod M, Parry S, Charlton A, Findlay M, Cox B, Humar B, More H, Guilford P. Hereditary diffuse gastric cancer: diagnosis and management. Clin Gastroenterol Hepatol 2006;4:262-275.
17. Janssen CW, Maartmann-More H, Lie RT, Matre R. Age and sex distribution of intestinal type and diffuse gastric cancer. Acta Patholigica, Microbiologica et Immunologica Scandinavica 1991;99:78-82.
18. Bevan S, Houlston RS. Genetic predisposition of gastric cancer. Q J Med 1999;92:5-10.
19. Correa P. Pathology and molecular pathogenesis of gastric cancer. Up to Date.com Web site, January 2011. Available at http://www.uptodate.com/contents/pathology-and-molecularpathogenesis-of-gastric-cancer?source=search_result&search=Pathology+and+molecular+pathogenesis+of+gastric+cancer.+2011&selectedTitle=1%7E150. Accessed February 7, 2012.
20. van der Woude CJ, Kleibeuker JH, Tiebosch ATGM, Homan M, Beuving A, Jansen PLM, Moshage H. Diffuse and intestinal type gastric carcinomas differ in their expression of apoptosis related proteins. J Clin Pathol 2003;56:699-702.
21. Moran CJ, Joyce M, McAnena OJ. CDH1 associated gastric cancer: a report of a family and review of the literature. Eur J Surg Oncol 2005;31:259-264.
22. Caldas C, Carneiro F, Lynch HT, Yokota J, Wiesner GL, Powell SM, Lewis FR, Huntsman DG, Pharoah PD, Jankowski JA, MacLeod P, Vogelsang H, Keller G, Park KG, Richards FM, Maher ER, Gayther SA, Oliveira C, Grehan N, Wight D, Seruca R, Roviello F, Ponder BA, Jackson CE. Familial gastric cancer: overview and guidelines for management. J Med Genet 1999;36:873-880.
23. Francis WP, Rodrigues DM, Perez NE, Lonardo F, Weaver D, Webber JD. Prophylactic laparoscopic-assisted total gastrectomy for hereditary diffuse gastric cancer. J Society Laparoendoscopic Surgeons 2007;11:142-147.
24. Van Domselaar F, Correa D, Vaccaro C, Redal M, Van Domselaar R, Huntsman D, Kaurah P, Senz J, Lynch H. [Hereditary diffuse gastric cancer (HDGC): presentation of a family with a new mutation of the CDH1 gene]. [Article in Spanish] Acta Gastroenterol Latinoam 2007;37:158-163.
25. Shaw D, Blair V, Framp A, Harawira P, McLeod M, Guilford P, Parry S, Charlton A, Martin I. Chromoendoscopic surveillance in hereditary diffuse gastric cancer: an alternative to prophylactic gastrectomy? Gut 2005; 54:461-468.
26. Berger KL, Nicholson SA, Dehdashti F, Siegel BA. FDG PET evaluation of mucinous neoplasms: Correlation of FDG uptake with histopathologic features. AJR Am J Roentgenol. 2000;174:1005-1008.
27. Bacani JT, Soares M, Zwingerman R, di Nicola N, Senz J, Riddell R, Huntsman DG, Gallinger S. CDH1/E-cadherin germline mutations in early-onset gastric cancer. J Med Genet 2006;43:867-872.