Familial gastric cancer: Update for practice management

Familial Cancer

Volumn 10, Issue 2, 2011, Pages 391-396

  Corso, Giovanni ^a,b,c   Marrelli, Daniele ^a,b   Roviello, Franco ^a,b  

^a UNIVERSITY OF SIENA   (Italy)

^b ISTITUTO TOSCANO TUMORI   (Italy)

^c UNIVERSITY OF PORTO   (Portugal)

Author keywords

E cadherin; Mismatch repair genes; STK11; TP53

Indexed keywords

MISMATCH REPAIR PROTEIN PMS1; MISMATCH REPAIR PROTEIN PMS2; PROTEIN KINASE LKB1; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; PROTEIN P53; UNCLASSIFIED DRUG; UVOMORULIN;

ARTICLE; CHROMOSOME 17P; DNA DAMAGE; ENVIRONMENTAL EXPOSURE; ENVIRONMENTAL FACTOR; FAMILIAL CANCER; GENE CLUSTER; GENE MUTATION; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC SCREENING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOTE; HUMAN; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; PEUTZ JEGHERS SYNDROME; PHENOTYPE; PHYSICIAN; PRIORITY JOURNAL; STOMACH CANCER;

CADHERINS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; ENVIRONMENTAL EXPOSURE; GENES, P53; GENETIC TESTING; HUMANS; LI-FRAUMENI SYNDROME; STOMACH NEOPLASMS;

EID: 79958083980     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-010-9410-1     Document Type: Article

References (50)

1. HT Lynch JF Lynch 2002 Cancer family history and genetic testing: are malpractice adjudications waiting to happen? Am J Gastroenterol 97 518 520 11922540 10.1111/j.1572-0241.2002.05524.x (Pubitemid 34245874)
2. P Guilford J Hopkins J Harraway, et al. 1998 E-cadherin germline mutations in familial gastric cancer Nature 392 402 405 9537325 10.1038/32918 1:CAS:528:DyaK1cXitlShtL0%3D (Pubitemid 28168738)
3. C Caldas F Carneiro HT Lynch, et al. 1999 Familial gastric cancer: overview and guidelines for management J Med Genet 36 873 880 10593993 1:STN:280:DC%2BD3c%2Fmt12qug%3D%3D (Pubitemid 30003842)
4. C Oliveira F Carneiro R Seruca 2009 Hereditary gastric cancer Best Pract Res Clin Gastroenterol 23 147 157 19414142 10.1016/j.bpg.2009.02.003 1:CAS:528:DC%2BD1MXlsVKjsLo%3D
5. C Pedrazzani G Corso S Velho, et al. 2009 Evidence of tumor microsatellite instability in gastric cancer with familial aggregation Fam Cancer 8 215 220 19152022 10.1007/s10689-008-9231-7 1:CAS:528: DC%2BD1MXptVGqsbw%3D
6. D Palli A Russo L Ottini, et al. 2001 Red meat, family history, and increased risk of gastric cancer with microsatellite instability Cancer Res 61 5415 5419 11454685 1:CAS:528:DC%2BD3MXlsVChs7s%3D (Pubitemid 32694920)
7. AB Buermeyer SM Deschênes SM Baker, et al. 1999 Mammalian DNA mismatch repair Annu Rev Genet 33 533 564 10690417 10.1146/annurev.genet.33.1. 533 1:CAS:528:DC%2BD3cXhtVSms7Y%3D (Pubitemid 30083132)
8. G La Torre G Chiaradia F Gianfagna, et al. 2009 Smoking status and gastric cancer risk: an updated meta-analysis of case-control studies published in the past ten years Tumori 95 13 22 19366050
9. G Corso D Marrelli C Pedrazzani, et al. 2009 Gastric cardia carcinoma is associated with the promoter -77T > C gene polymorphism of X-ray cross-complementing group 1 (XRCC1) J Gastrointest Surg 13 2233 2238 19662459 10.1007/s11605-009-0980-x
10. P Guilford JB Hopkins WM Grady, et al. 1999 E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer Hum Mutat 14 249 255 10477433 10.1002/(SICI)1098-1004(1999)14:3<249::AID- HUMU8>3.0.CO;2-9 1:CAS:528:DyaK1MXmtFartbk%3D (Pubitemid 29407266)
11. G Berx AM Cleton-Jansen F Nollet, et al. 1995 E-cadherin is a tumor/invasion suppressor gene mutated in human lobular breast cancers EMBO J 14 6107 6115 8557030 1:CAS:528:DyaK28XjtVKjtQ%3D%3D (Pubitemid 26007298)
12. M Takeichi 1991 Cadherin cell adhesion receptors as a morphogenetic regulator Science 251 451 1455 10.1126/science.2006419
13. AR Brooks-Wilson P Kaurah G Suriano, et al. 2004 Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria J Med Genet 41 508 517 15235021 10.1136/jmg.2004.018275 1:CAS:528:DC%2BD2cXmvVymsb4%3D (Pubitemid 38932110)
14. RC Fitzgeral R Hardwick D Huntsman, et al. 2010 Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research J Med Genet 47 436 444 10.1136/jmg.2009.074237
15. P Guilford B Humar V Blair 2010 Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice Gastric Cancer 13 1 10 20373070 10.1007/s10120-009-0531-x 1:CAS:528:DC%2BC3cXkt12msLk%3D
16. G Suriano MJ Oliveira DG Huntsman, et al. 2003 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 15 3007 3016 10.1093/hmg/ddg316 (Pubitemid 37442028)
17. A Charlton V Blair D Shaw, et al. 2005 Hereditary diffuse gastric cancer: predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone Gut 53 814 820 10.1136/gut.2002.010447 (Pubitemid 38662130)
18. C Pedrazzani G Corso D Marrelli, et al. 2007 E cadherin and diffuse gastric cancer Surgery 142 645 657 17981184 10.1016/j.surg.2007.06.006 (Pubitemid 350018845)
19. MS Rhyu 1996 Molecular mechanisms underlying hereditary nonpolyposis colorectal carcinoma J Natl Cancer Inst 88 240 251 8614002 10.1093/jnci/88.5.240 1:CAS:528:DyaK28XitV2ntrg%3D (Pubitemid 26073368)
20. HF Vasen 2000 Clinical diagnosis and management of hereditary colorectal cancer syndromes J Clin Oncol 18 81S 92S 11060333 1:STN:280: DC%2BD3M%2FjsVOisA%3D%3D
21. CR Boland A Goel 2010 Microsatellite instability in colorectal cancer Gastroenterology 138 2073 2087 20420947 10.1053/j.gastro.2009.12.064 1:CAS:528:DC%2BC3cXms1yitbw%3D
22. HT Lynch A de la Chapelle 2003 Hereditary colorectal cancer N Engl J Med 348 919 932 12621137 10.1056/NEJMra012242 1:CAS:528:DC%2BD3sXhvVOit7s%3D (Pubitemid 36298000)
23. P Watson HT Lynch 1993 Extracolonic cancer in hereditary nonpolyposis colorectal cancer Cancer 71 677 685 8431847 10.1002/1097-0142(19930201)71: 3<677::AID-CNCR2820710305>3.0.CO;2-# 1:STN:280:DyaK3s7mtFagsQ%3D%3D (Pubitemid 23051366)
24. M Aarnio R Sankila E Pukkala, et al. 1999 Cancer risk in mutation carriers of DNA-mismatch-repair genes Int J Cancer 81 214 218 10188721 10.1002/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L 1:STN:280:DyaK1M3gt1Kjtg%3D%3D (Pubitemid 29144749)
25. A Gylling WM Abdel-Rahman M Juhola, et al. 2007 Is gastric cancer part of the tumour spectrum of hereditary non-polyposis colorectal cancer? A molecular genetic study Gut 56 926 933 17267619 10.1136/gut.2006.114876 1:CAS:528:DC%2BD2sXptVCqsrc%3D (Pubitemid 46999075)
26. MA Rodriguez-Bigas CR Boland SR Hamilton, et al. 1997 A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines J Natl Cancer Inst 89 1758 1762 9392616 10.1093/jnci/89.23.1758 1:STN:280:DyaK1c%2Flt1Gjuw%3D%3D
27. A Umar CR Boland JP Terdiman, et al. 2004 Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability J Natl Cancer Inst 96 261 268 14970275 10.1093/jnci/djh034 1:CAS:528:DC%2BD2cXhsV2qtLk%3D (Pubitemid 38256271)
28. HF Vasen 2005 Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)] Fam Cancer 4 219 225 16136381 10.1007/s10689-004-3906-5 1:STN:280:DC%2BD2MvmslKrsA%3D%3D (Pubitemid 41242190)
29. JM Birch RD Alston RJ McNally, et al. 2001 Relative frequency and morphology of cancers in carriers of germline TP53 mutations Oncogene 20 4621 4628 11498785 10.1038/sj.onc.1204621 1:CAS:528:DC%2BD3MXmtFejs7c%3D (Pubitemid 32762434)
30. M Olivier DE Goldgar N Sodha, et al. 2003 Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype Cancer Res 63 6643 6650 14583457 1:CAS:528:DC%2BD3sXosVGgurs%3D (Pubitemid 37322942)
31. Li FP, Fraumeni JF, Jr, Mulvihill JJ, Blattner WA et al. (1988) A cancer family syndrome in twenty-four kindreds. Cancer Research 485358-485362
32. JM Birch AL Hartley KJ Tricker, et al. 1994 Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families Cancer Res 54 1298 1304 8118819 1:CAS:528:DyaK2cXitFCjsbY%3D (Pubitemid 24108072)
33. JM Varlery 2003 Germline TP53 mutations and Li-Fraumeni syndrome Hum Mutat 21 313 320 10.1002/humu.10185 (Pubitemid 36292974)
34. A Chompret 2002 The Li-Fraumeni syndrome Biochimie 84 75 82 11900879 10.1016/S0300-9084(01)01361-X 1:CAS:528:DC%2BD38XitFaqsLY%3D (Pubitemid 34477095)
35. C Oliveira P Ferreira S Nabais, et al. 2004 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 1897 1903 15288293 10.1016/j.ejca.2004.04.027 1:CAS:528:DC%2BD2cXmt1OitLk%3D (Pubitemid 39036766)
36. K Sugano T Taniguchi M Saeki, et al. 1999 Germline p53 mutation in a case of Li-Fraumeni syndrome presenting gastric cancer Jpn J Clin Oncol 29 513 516 10645809 10.1093/jjco/29.10.513 1:STN:280:DC%2BD3c7gvVCjtQ%3D%3D
37. IJ Kim HC Kang Y Shin, et al. 2004 A TP53-truncating germline mutation (E287×) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome J Hum Genet 49 591 595 15368100 10.1007/s10038-004-0193-9 1:CAS:528:DC%2BD2cXhtVShsLvJ (Pubitemid 40392420)
38. G Keller H Vogelsang I Becker, et al. 2004 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 89 10.1136/jmg.2003.015594
39. M Kusano H Kakiuchi M Mihara, et al. 2001 Absence of microsatellite instability and germline mutations of E-cadherin, APC and p53 genes in Japanese familial gastric cancer Tumor Biology 22 262 268 11399952 10.1159/000050625 1:CAS:528:DC%2BD3MXltVOnsbY%3D (Pubitemid 32588922)
40. G Corso C Pedrazzani D Marrelli, et al. 2010 Familial gastric cancer and Li-Fraumeni syndrome Eur J Cancer Care 19 377 381 10.1111/j.1365-2354.2008. 01066.x 1:STN:280:DC%2BC3cvhtlKnsg%3D%3D
41. Peutz JLA (1921) Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane. Nederl Maandschr Geneesk 10:134-46
42. H Jeghers VA McKusick HA Katz, et al. 1949 Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significante N Engl J Med 241 1031 1036 15398245 10.1056/ NEJM194912292412601 1:STN:280:DyaG3c%2FgslyktQ%3D%3D
43. MGF Van Lier A Wagner EMH Mathus-Vligen, et al. 2010 High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance reccomendations Am J Gastroenterol 105 1258 1264 20051941 10.1038/ajg.2009.725
44. W Lim N Hearle B Shah, et al. 2003 Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome Br J Cancer 89 308 313 12865922 10.1038/sj.bjc.6601030 1:CAS:528:DC%2BD3sXlsVaksbY%3D (Pubitemid 36976321)
45. G Suriano S Seixas J Rocha, et al. 2006 A model to infer the pathogenic significance of CDH1 germline missense variants J Mol Med 84 1023 1031 16924464 10.1007/s00109-006-0091-z 1:CAS:528:DC%2BD2sXjvFKguw%3D%3D
46. Lindor NM, Petersen GM, Hadley DW et al. (2006) Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA 2006 296:1507-1517 (Pubitemid 44465515)
47. YM Hendriks AE de Jong H Morreau, et al. 2006 Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians CA Cancer J Clin 56 213 225 16870997 10.3322/canjclin.56.4. 213 (Pubitemid 44175050)
48. F Roviello G Corso C Pedrazzani, et al. 2007 High incidence of familial history in Tuscany, a region in Italy Oncology 72 243 247 18185018 10.1159/000113015 (Pubitemid 351161617)
49. F Roviello G Corso C Pedrazzani, et al. 2007 Hereditary diffuse gastric cancer and E-cadherin: description of the first germline mutation in an Italian family Eur J Surg Oncol 33 448 451 17126523 10.1016/j.ejso.2006.10.028 1:STN:280:DC%2BD2s3jvVWktg%3D%3D (Pubitemid 46586098)
50. Corso G, Pedrazzani C, Pinheiro H et al. (2010) E-cadherin genetic screening and clinico-pathologic characteristics of early onset gastric cancer. Eur J Cancer in press