Gastric cancer in individuals with Li-Fraumeni syndrome

Genetics in Medicine

Volumn 13, Issue 7, 2011, Pages 651-657

  Masciari, Serena ^a   Dewanwala, Akriti ^a   Stoffel, Elena M ^a,b   Lauwers, Gregory Y ^c   Zheng, Hui ^c   Achatz, Maria Isabel ^d   Riegert Johnson, Douglas ^e   Foretova, Lenka ^f   Silva, Edaise M ^d   Digianni, Lisa ^a   Verselis, Sigitas J ^a   Schneider, Katherine ^a   Li, Frederick P ^a   Fraumeni, Joseph ^g   Garber, Judy E ^a   Syngal, Sapna ^a,b  

^a DANA FARBER CANCER INSTITUTE   (United States)

^b Brigham and Women's Hospital   (United Kingdom)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d A C CAMARGO CANCER CENTER   (Brazil)

^e MAYO CLINIC   (United States)

^f MASARYK MEMORIAL CANCER INSTITUTE   (Czech Republic)

^g NATIONAL CANCER INSTITUTE   (United States)

Author keywords

gastric cancer; germline mutations; hereditary gastric cancer syndromes; Li Fraumeni syndrome; TP53

Indexed keywords

PROTEIN P53;

ADULT; AGED; ARTICLE; COLORECTAL CANCER; FAMILIAL CANCER; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MEDICAL RECORD; MORBIDITY; PEDIGREE; PHENOTYPE; STOMACH CANCER;

ADULT; AGED; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LI-FRAUMENI SYNDROME; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RETROSPECTIVE STUDIES; STOMACH NEOPLASMS; TUMOR SUPPRESSOR PROTEIN P53; YOUNG ADULT;

EID: 79960845375     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31821628b6     Document Type: Article

References (51)

1. Horner MJ, Ries LAG, Krapcho M, et al. SEER cancer statistics review, 1975-2006, based on November 2008 SEER data submission, posted to the SEER web site, 2009. Bethesda, MD: National Cancer Institute. Available at: http://seer.cancer.gov/csr/1975-2006/.
2. 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 1990;66:2047-2051. (Pubitemid 20385984)
3. La Vecchia C, Negri E, Franceschi S, Gentile A. Family history and the risk of stomach and colorectal cancer. Cancer 1992;70:50-55.
4. Gayther SA, Gorringe KL, Ramus SJ, et al. Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. Cancer Res 1998;58:4086-4089. (Pubitemid 28440561)
5. Guilford P, Hopkins J, Harraway J, et al. E-cadherin germline mutations in familial gastric cancer. Nature 1998;392:402-405. (Pubitemid 28168738)
6. 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 2002;19:510-517. (Pubitemid 34461624)
7. 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 2005;11:5401-5409. (Pubitemid 41060814)
8. Kaurah P MacMillan A, Boyd N, et al. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA 2007; 297:2360-2372. (Pubitemid 46883749)
9. 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;121:1348-1353. (Pubitemid 33140452)
10. Koornstra JJ, Mourits MJ, Sijmons RH, Leliveld AM, Hollema H, Kleibeuker JH. Management of extracolonic tumours in patients with Lynch syndrome. Lancet Oncol 2009;10:400-408.
11. van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol 2010;105: 1258-1264.
12. Thompson D, Easton DF. Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst 2002;94:1358-1365. (Pubitemid 35154140)
13. Brose MS, Rebbeck TR, Calzone KA, Stopfer JE, Nathanson KL, Weber BL. Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst 2002;94:1365-1372. (Pubitemid 35154141)
14. Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 1999;91:1310-1316.
15. Easton DF, Steele L, Fields P, et al. Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet 1997;61:120-128. (Pubitemid 27323331)
16. Park JG, Park KJ, Ahn YO, et al. Risk of gastric cancer among Korean familial adenomatous polyposis patients. Report of three cases. Dis Colon Rectum 1992;35:996-998.
17. Iwama T, Mishima Y, Utsunomiya J. The impact of familial adenomatous polyposis on the tumorigenesis and mortality at the several organs. Its rational treatment. Ann Surg 1993;217:101-108. (Pubitemid 23059279)
18. Li FP, Fraumeni JF Jr. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med 1969;71:747-752.
19. Li FP, Fraumeni JF Jr, Mulvihill JJ, et al. A cancer family syndrome in twenty-four kindreds. Cancer Res 1988;48:5358-5362.
20. Garber JE, Goldstein AM, Kantor AF, Dreyfus MG, Fraumeni JF Jr, Li FP. Follow-up study of twenty-four families with Li-Fraumeni syndrome. Cancer Res 1991;51:6094-6097.
21. Varley JM, McGown G, Thorncroft M, et al. An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. J Med Genet 1995;32:942-945.
22. Varley JM, McGown G, Thorncroft M, et al. Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. Cancer Res 1997;57:3245-3252. (Pubitemid 27351742)
23. Kleihues P, Schauble B, zur Hausen A, Esteve J, Ohgaki H. Tumors associated with p53 germline mutations: a synopsis of 91 families. Am J Pathol 1997;150:1-13. (Pubitemid 27027090)
24. Birch JM, Blair V, Kelsey AM, et al. Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. Oncogene 1998;17:1061-1068. (Pubitemid 28444590)
25. Hisada M, Garber JE, Fung CY, Fraumeni JF Jr, Li FP. Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst 1998; 90:606-611. (Pubitemid 28204804)
26. Nichols KE, Malkin D, Garber JE, Fraumeni JF Jr, Li FP. Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemiol Biomarkers Prev 2001;10:83-87. (Pubitemid 32172424)
27. Varley JM, Evans DG, Birch JM. Li-Fraumeni syndrome-a molecular and clinical review. Br J Cancer 1997;76:1-14. (Pubitemid 27250068)
28. Strong LC, Williams WR. The genetic implications of long-term survival of childhood cancer. A conceptual framework. Am J Pediatr Hematol Oncol 1987;9:99-103. (Pubitemid 17038782)
29. Hartley AL, Birch JM, Kelsey AM, Marsden HB, Harris M, Teare MD. Are germ cell tumors part of the Li-Fraumeni cancer family syndrome? Cancer Genet Cytogenet 1989;42:221-226. (Pubitemid 19262599)
30. Wong P, Verselis SJ, Garber JE, et al. Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome. Gastroenterology 2006;130:73-79. (Pubitemid 43049837)
31. NCCN. National Comprehensive Cancer Network: practice guidelines in oncology-v1.2010: genetic/familial high-risk assessment: breast and ovarian: Li-Fraumeni syndrome. Available at: http://www.nccn.org/professionals/physician- gls/PDF/genetics-screening.pdf.
32. Birch JM, Hartley AL, Tricker KJ, et al. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 1994;54:1298-1304. (Pubitemid 24108072)
33. Ries LAG, Krapcho M, Stinchcomb DG, et al. SEER cancer statistics review, 1975-2005, based on November 2007 SEER data submission, posted to the SEER web site, 2008. Bethesda, MD: National Cancer Institute. Available at: http://seer.cancer.gov/csr/1975-2005/.
34. 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 1965;64:31-49.
35. Chao MM, Levine JE, Ruiz RE, et al. Malignant triton tumor in a patient with Li-Fraumeni syndrome and a novel TP53 mutation. Pediatr Blood Cancer 2007;49:1000-1004. (Pubitemid 350022462)
36. Friedman DL, Kadan-Lottick NS, Whitton J, et al. Increased risk of cancer among siblings of long-term childhood cancer survivors: a report from the childhood cancer survivor study. Cancer Epidemiol Biomarkers Prev 2005; 14:1922-1927. (Pubitemid 41161201)
37. Pang D, McNally R, Kelsey A, Birch JM. Cancer incidence and mortality among the parents of a population-based series of 2604 children with cancer. Cancer Epidemiol Biomarkers Prev 2003;12:538-544. (Pubitemid 36713649)
38. Chompret A, Brugieres L, Ronsin M, et al. P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 2000;82:1932-1937. (Pubitemid 30326453)
39. Evans DG, Birch JM, Thorneycroft M, McGown G, Lalloo F, Varley JM. Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome. J Med Genet 2002;39:941-944. (Pubitemid 36009160)
40. International Agency for Research on Cancer, IARC. TP53 mutation database, R12 release. Lyon, France: IARC, November 2007. Available at: http://www-p53.iarc.fr/.
41. Kim IJ, Kang HC, Shin Y, Yoo BC, Yang HK, Park JG. Familial gastric cancers with Li-Fraumeni syndrome: a case repast. World J Gastroenterol 2005;11:4124-4126. (Pubitemid 41235617)
42. Yamada H, Shinmura K, Okudela K, et al. Identification and characterization of a novel germ line p53 mutation in familial gastric cancer in the Japanese population. Carcinogenesis 2007;28:2013-2018. (Pubitemid 47500617)
43. 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 2004;40: 1897-1903. (Pubitemid 39036766)
44. Keller G, Vogelsang H, Becker I, et al. Germline mutations of the Ecadherin( CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients. J Med Genet 2004;41:e89.
45. Kim IJ, Kang HC, Shin Y, et al. A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome. J Hum Genet 2004;49:591-595. (Pubitemid 40392420)
46. Strickler JG, Zheng J, Shu Q, Burgart LJ, Alberts SR, Shibata D. p53 mutations and microsatellite instability in sporadic gastric cancer: when guardians fail. Cancer Res 1994;54:4750-4755.
47. Schneider KA, DiGianni LM, Patenaude AF, et al. Accuracy of cancer family histories: comparison of two breast cancer syndromes. Genet Test 2004;8:222-228. (Pubitemid 39586789)
48. Douglas FS, O'Dair LC, Robinson M, Evans DG, Lynch SA. The accuracy of diagnoses as reported in families with cancer: a retrospective study. J Med Genet 1999;36:309-312. (Pubitemid 29161064)
49. Murff HJ, Spigel DR, Syngal S. Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history. JAMA 2004;292:1480-1489. (Pubitemid 39258342)
50. Masciari S, Van den Abbeele AD, Diller LR, et al. F18- fluorodeoxyglucosepositron emission tomography/computed tomography screening in Li-Fraumeni syndrome. JAMA 2008;299:1315-1319. (Pubitemid 351439077)
51. Norton JA, Ham CM, Van Dam J, et al. CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. Ann Surg 2007;245:873-879. (Pubitemid 46809288)