The limited spectrum of pathogenic BRCA1 and BRCA2 mutations in the French Canadian breast and breast-ovarian cancer families, a founder population of Quebec, Canada;Le spectre limité des mutations pathogéniques BRCA1 et BRCA2 dans le cancer du sein et le cancer du sein-ovaire dans les familles Canadiennes-Françaises, une population fondatrice du Québec, Canada

Bulletin du Cancer

Volumn 93, Issue 9, 2006, Pages 841-846

  Tonin, Patricia N ^a,b,c  

^a MCGILL UNIVERSITY   (Canada)

^b RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^c MONTREAL GENERAL HOSPITAL   (Canada)

Author keywords

BRCA1; BRCA2; Founder population; French Canadian

Indexed keywords

BRCA2 GENE; BREAST CANCER; CANADA; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; ETHNOLOGY; FAMILIAL DISEASE; GENE MUTATION; GENETIC ANALYSIS; GENOME ANALYSIS; HAPLOTYPE; HUMAN; MEDICAL GENETICS; ONCOGENE; PHENOTYPE; POPULATION RESEARCH; REVIEW; SPECTROSCOPY; AGE; ARTICLE; BREAST TUMOR; FAMILY; FEMALE; FOUNDER EFFECT; FRANCE; GENETIC PREDISPOSITION; GENETICS; MIGRATION; MUTATION; OVARY TUMOR; TUMOR SUPPRESSOR GENE;

AGE FACTORS; BREAST NEOPLASMS; EMIGRATION AND IMMIGRATION; FAMILY; FEMALE; FOUNDER EFFECT; FRANCE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MUTATION; OVARIAN NEOPLASMS; QUEBEC;

EID: 33749057126     PISSN: 00074551     EISSN: 17696917     Source Type: Journal    
DOI: None     Document Type: Review

References (29)

1. Miki Y, Swensen J, Shactuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994; 266: 66-71.
2. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995; 378: 789-92.
3. Chen S, Iversen ES, Friebel T, Finkelstein D, Weber BL, Eisen A, et al. Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol 2006; 24: 863-71.
4. King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003; 302: 643-6.
5. Mann GJ, Thorne H, Balleine RL, Butow PN, Clarke CL, Edkins E, et al. Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource. Breast Cancer Res 2006; 8: R12.
6. Burke W, Daly M, Garber J, Botkin J, Kahn MJ, Lynch P, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA 1997; 277: 997-1003.
7. Thull DL, Vogel VG. Recognition and management of hereditary breast cancer syndromes. Oncologist 2004; 9: 13-24.
8. Wooster R, Weber BL. Breast and ovarian cancer. N Engl J Med 2003; 348: 2339-47.
9. Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 2006; 295: 1379-88.
10. Smith P, McGuffog L, Easton DF, Mann GJ, Pupo GM, Newman B, et al. A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer 2006; 45: 646-55.
11. Lynch HT, Rubinstein WS, Locker GY. Cancer in Jews: introduction and overview. Fam Cancer 2004; 3: 177-92.
12. Laberge AM, Michaud J, Richter A, Lemyre E, Lambert M, Brais B, et al. Population history and its impact on medical genetics in Quebec. Clin Genet 2005; 20068: 287-301.
13. Scriver CR. Human genetics: lessons from Quebec populations. Annu Rev Genomics Hum Genet 2001; 2: 69-101.
14. Durocher F, Tonin P, Shattuck-Eidens D, Skolnick M, Narod SA, Simard J. Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites. J Med Genet 1996; 33: 814-9.
15. Phelan CM, Lancaster JM, Tonin P, Gumbs C, Cochran C, Carter R, et al. A. Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nat Genet 1996; 13: 120-2.
16. Simard J, Tonin P, Durocher F, Morgan K, Rommens J, Gingras S, et al. Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet 1994; 8: 392-8.
17. Tonin PN, Mes-Masson AM, Futreal PA, Morgan K, Mahon M, Foulkes WD, et al. Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am J Hum Genet 1998; 63: 1341-51.
18. Neuhausen SL, Mazoyer S, Friedman L, Stratton M, Offit K, Caligo A, et al. Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet 1996; 58: 271-80.
19. Vezina H, Durocher F, Dumont M, Houde L, Szabo C, Tranchant M, et al. Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families. Hum Genet 2005; 117: 119-32.
20. Lerer I, Wang T, Peretz T, Sagi M, Kaduri L, Orr-Urtreger A, et al. The 8765delAG mutation in BRCA2 is common among Jews of Yemenite extraction. Am J Hum Genet 1998; 63: 272-4.
21. Pisano M, Cossu A, Persico I, Palmieri G, Angius A, Casu G, et al. Identification of a founder BRCA2 mutation in Sardinia. Br J Cancer 2000; 82: 553-9.
22. Manning AP, Abelovich D, Ghadirian P, Lambert JA, Frappier D, Provencher D, et al. Haplotype analysis of BRCA2 8765delAG mutation carriers in French Canadian and Yemenite Jewish hereditary breast cancer families. Rum Hered 2001; 52: 116-20.
23. Oros KK, Ghadirian P, Greenwood CM, Perret C, Shen Z, Paredes Y, et al. Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5 BRCA1 and BRCA2 mutations. Int J Cancer 2004; 112: 411-9.
24. Oros KK, Leblanc G, Arcand SL, Shen Z, Perret C, Mes-Masson AM, et al. Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families. BMC Med Genet 2006; 7: 23.
25. Tonin PN, Perret C, Lambert JA, Paradis AJ, Kantemiroff T, Benoit MH, et al. Founder BRCA1 and BRCA2 mutations in early-onset French Canadian breast cancer cases unselected for family history. Int J Cancer 2001; 95: 189-93.
26. Chappuis PO, Hamel N, Paradis AJ, Deschenes J, Robidoux A, Potvin C, et al. Prevalence of founder BRCA1 and BRCA2 mutations in unselected French Canadian women with breast cancer. Clin Genet 2001; 59: 418-23.
27. Tonin PM, Mes-Masson AM, Narod SA, Ghadirian P, Provencher D. Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history. Clin Genet 1999; 55: 318-24.
28. Antoniou AC, Durocher F, Smith P, Simard J, Easton DF. BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families. Breast Cancer Res 2006; 8: R3.
29. Houlston RS, Peto J. The search for low-penetrance cancer susceptibility alleles. Oncogene 2004; 23: 6471-6.