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Familial Cancer

Erschienen in:

01.06.2011

Familial gastric cancer: update for practice management

verfasst von: Giovanni Corso, Daniele Marrelli, Franco Roviello

Erschienen in: Familial Cancer | Ausgabe 2/2011

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Abstract

About 90% of gastric carcinoma presents a sporadic setting and only 10% shows a familial cluster; among this group, 1–3% are considered as hereditary syndromes, with a clear genetic pathway. The most important genetic mechanisms are associated with CDH1 germline mutations, causing the hereditary diffuse gastric cancer syndrome. Other inherited predispositions with gastric carcinoma are the hereditary nonpolyposis colorectal cancer, Li-Fraumeni and Peutz-Jeghers syndromes. In this brief update, we described these principal hereditary syndromes offering a simple management to physicians where are these diseases diagnosed.

Lynch HT, Lynch JF (2002) Cancer family history and genetic testing: are malpractice adjudications waiting to happen? Am J Gastroenterol 97:518–520PubMedCrossRef

Guilford P, Hopkins J, Harraway J et al (1998) E-cadherin germline mutations in familial gastric cancer. Nature 392:402–405PubMedCrossRef

Caldas C, Carneiro F, Lynch HT et al (1999) Familial gastric cancer: overview and guidelines for management. J Med Genet 36:873–880PubMed

Oliveira C, Carneiro F, Seruca R (2009) Hereditary gastric cancer. Best Pract Res Clin Gastroenterol 23:147–157PubMedCrossRef

Pedrazzani C, Corso G, Velho S et al (2009) Evidence of tumor microsatellite instability in gastric cancer with familial aggregation. Fam Cancer 8:215–220PubMedCrossRef

Palli D, Russo A, Ottini L et al (2001) Red meat, family history, and increased risk of gastric cancer with microsatellite instability. Cancer Res 61:5415–5419PubMed

Buermeyer AB, Deschênes SM, Baker SM et al (1999) Mammalian DNA mismatch repair. Annu Rev Genet 33:533–564PubMedCrossRef

La Torre G, Chiaradia G, Gianfagna F et al (2009) Smoking status and gastric cancer risk: an updated meta-analysis of case-control studies published in the past ten years. Tumori 95:13–22PubMed

Corso G, Marrelli D, Pedrazzani C 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 13:2233–2238PubMedCrossRef

10.

Guilford P, Hopkins JB, Grady WM et al (1999) E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. Hum Mutat 14:249–255PubMedCrossRef

11.

Berx G, Cleton-Jansen AM, Nollet F et al (1995) E-cadherin is a tumor/invasion suppressor gene mutated in human lobular breast cancers. EMBO J 14:6107–6115PubMed

12.

Takeichi M (1991) Cadherin cell adhesion receptors as a morphogenetic regulator. Science 251:451–1455CrossRef

13.

Brooks-Wilson AR, Kaurah P, Suriano G 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 41:508–517PubMedCrossRef

14.

Fitzgeral RC, Hardwick R, Huntsman D et al (2010) Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 47:436–444CrossRef

15.

Guilford P, Humar B, Blair V (2010) Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. Gastric Cancer 13:1–10PubMedCrossRef

16.

Suriano G, Oliveira MJ, Huntsman DG 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 15:3007–3016CrossRef

17.

Charlton A, Blair V, Shaw D et al (2005) Hereditary diffuse gastric cancer: predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone. Gut 53:814–820CrossRef

18.

Pedrazzani C, Corso G, Marrelli D et al (2007) E cadherin and diffuse gastric cancer. Surgery 142:645–657PubMedCrossRef

19.

Rhyu MS (1996) Molecular mechanisms underlying hereditary nonpolyposis colorectal carcinoma. J Natl Cancer Inst 88:240–251PubMedCrossRef

20.

Vasen HF (2000) Clinical diagnosis and management of hereditary colorectal cancer syndromes. J Clin Oncol 18:81S–92SPubMed

21.

Boland CR, Goel A (2010) Microsatellite instability in colorectal cancer. Gastroenterology 138:2073–2087PubMedCrossRef

22.

Lynch HT, de la Chapelle A (2003) Hereditary colorectal cancer. N Engl J Med 348:919–932PubMedCrossRef

23.

Watson P, Lynch HT (1993) Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71:677–685PubMedCrossRef

24.

Aarnio M, Sankila R, Pukkala E et al (1999) Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81:214–218PubMedCrossRef

25.

Gylling A, Abdel-Rahman WM, Juhola M et al (2007) Is gastric cancer part of the tumour spectrum of hereditary non-polyposis colorectal cancer? A molecular genetic study. Gut 56:926–933PubMedCrossRef

26.

Rodriguez-Bigas MA, Boland CR, Hamilton SR et al (1997) A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89:1758–1762PubMedCrossRef

27.

Umar A, Boland CR, Terdiman JP et al (2004) Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96:261–268PubMedCrossRef

28.

Vasen HF (2005) Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)]. Fam Cancer 4:219–225PubMedCrossRef

29.

Birch JM, Alston RD, McNally RJ et al (2001) Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 20:4621–4628PubMedCrossRef

30.

Olivier M, Goldgar DE, Sodha N et al (2003) Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res 63:6643–6650PubMed

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.

Birch JM, Hartley AL, Tricker KJ et al (1994) Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 54:1298–1304PubMed

33.

Varlery JM (2003) Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat 21:313–320CrossRef

34.

Chompret A (2002) The Li-Fraumeni syndrome. Biochimie 84:75–82PubMedCrossRef

35.

Oliveira C, Ferreira P, Nabais S 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 40:1897–1903PubMedCrossRef

36.

Sugano K, Taniguchi T, Saeki M et al (1999) Germline p53 mutation in a case of Li-Fraumeni syndrome presenting gastric cancer. Jpn J Clin Oncol 29:513–516PubMedCrossRef

37.

Kim IJ, Kang HC, Shin Y 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 49:591–595PubMedCrossRef

38.

Keller G, Vogelsang H, Becker I 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 41:89CrossRef

39.

Kusano M, Kakiuchi H, Mihara M et al (2001) Absence of microsatellite instability and germline mutations of E-cadherin, APC and p53 genes in Japanese familial gastric cancer. Tumor Biology 22:262–268PubMedCrossRef

40.

Corso G, Pedrazzani C, Marrelli D et al (2010) Familial gastric cancer and Li-Fraumeni syndrome. Eur J Cancer Care 19:377–381CrossRef

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.

Jeghers H, McKusick VA, Katz HA 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 241:1031–1036PubMedCrossRef

43.

Van Lier MGF, Wagner A, Mathus-Vligen EMH et al (2010) High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance reccomendations. Am J Gastroenterol 105:1258–1264PubMedCrossRef

44.

Lim W, Hearle N, Shah B et al (2003) Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer 89:308–313PubMedCrossRef

45.

Suriano G, Seixas S, Rocha J et al (2006) A model to infer the pathogenic significance of CDH1 germline missense variants. J Mol Med 84:1023–1031PubMedCrossRef

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

47.

Hendriks YM, de Jong AE, Morreau H et al (2006) Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians. CA Cancer J Clin 56:213–225PubMedCrossRef

48.

Roviello F, Corso G, Pedrazzani C et al (2007) High incidence of familial history in Tuscany, a region in Italy. Oncology 72:243–247PubMedCrossRef

49.

Roviello F, Corso G, Pedrazzani C et al (2007) Hereditary diffuse gastric cancer and E-cadherin: description of the first germline mutation in an Italian family. Eur J Surg Oncol 33:448–451PubMedCrossRef

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

Titel: Familial gastric cancer: update for practice management
verfasst von: Giovanni Corso
Daniele Marrelli
Franco Roviello
Publikationsdatum: 01.06.2011
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 2/2011
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-010-9410-1

Springer Medizin

Familial gastric cancer: update for practice management

Abstract

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Abstract

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