Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil

Brazilian Journal of Medical and Biological Research

Volumn 42, Issue 5, 2009, Pages 453-457

  Esteves, V F ^a   Thuler, L C S ^b,c   Amendola L C ^a   Koifman, R J ^a   Koifman, S ^a   Frankel, P P ^a   Vieira, R J S ^a,d  

^a INSTITUTO OSWALDO CRUZ   (Brazil)

^b FEDERAL UNIVERSITY OF THE STATE OF RIO DE JANEIRO   (Brazil)

^c INSTITUTO NACIONAL DE CÂNCER   (Brazil)

^d NONE   (Brazil)

Author keywords

Brazil; BRCA1; BRCA2; Breast cancer; Mutations

Indexed keywords

ADENOSINE; BRCA1 PROTEIN; BRCA2 PROTEIN; CYTIDINE; GUANOSINE; THYMIDINE;

ARTICLE; BLOOD SAMPLING; BRAZIL; BREAST CANCER; CANCER RISK; DNA EXTRACTION; DNA MODIFICATION; EXON; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GEOGRAPHICAL VARIATION (SPECIES); HIGH RISK POPULATION; HUMAN; MALE; OVARY CANCER;

EID: 68249160900     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/S0100-879X2009000500009     Document Type: Article

References (20)

1. Brasil. Ministério da Saúde. Secretaria de Vigilância em Saúde. Secretaria de Atenção à Saúde. Instituto Nacional de Câncer. Coordenação de Prevenção e Vigilância (Brasil): Estimates 2008 - Câncer Incidence in Brazil. Rio de Janeiro: INCA. 2007. http://www.inca.gov.br. Accessed June 10, 2008.
2. Harris JR, Lippman ME, Morrow M. Diseases of the breast. Philadelphia: Lippincott Williams & Wilkins; 2004.
3. Nusbaum R, Isaacs C. Management updates for women with a BRCA1 or BRCA2 mutation. Mol Diagn Ther 2007; 11: 133-144.
4. Koifman RJ, Koifman S, Vieira RJ. Familial aggregation of breast/ovarian cancer: age of onset along subsequent generations in Brazil. Cad Saúde Pública 1998; 14 (Suppl 3): 181-185.
5. Nusbaum R, Vogel KJ, Ready K. Susceptibility to breast cancer: hereditary syndromes and low penetrance genes. Breast Dis 2006; 27: 21-50.
6. Welcsh PL, Owens KN, King MC. Insights into the functions of BRCA1 and BRCA2. Trends Genet 2000; 16: 69-74.
7. Jara L, Acevedo ML, Blanco R, Castro VG, Bravo T, Gomez F, et al. RAD51 135G>C polymorphism and risk of familial breast cancer in a South American population. Cancer Genet Cytogenet 2007; 178: 65-69.
8. Venkitaraman AR. A growing network of cancer-susceptibility genes. N Engl J Med 2003; 348: 1917-1919.
9. Llort G, Peris M, Blanco I. [Hereditary breast and ovarian cancer: primary and secondary prevention for BRCA1 and BRCA2 mutation carriers]. Med Clin 2007; 128: 468-476.
10. Musolino A, Bella MA, Bortesi B, Michiara M, Naldi N, Zanelli P, et al. BRCA mutations, molecular markers, and clinical variables in early-onset breast cancer: a population-based study. Breast 2007; 16: 280-292.
11. Kirchhoff T, Kauff ND, Mitra N, Nafa K, Huang H, Palmer C, et al. BRCA mutations and risk of prostate cancer in Ashkenazi Jews. Clin Cancer Res 2004; 10: 2918-2921.
12. Greer JB, Whitcomb DC. Role of BRCA1 and BRCA2 mutations in pancreatic cancer. Gut 2007; 56: 601-605.
13. Crum CP, Drapkin R, Kindelberger D, Medeiros F, Miron A, Lee Y. Lessons from BRCA: the tubal fimbria emerges as an origin for pelvic serous cancer. Clin Med Res 2007; 5: 35-44.
14. Foulkes WD. Clinically relevant biology of hereditary breast cancer. Semin Oncol 2007; 34: 379-383.
15. Berliner JL, Fay AM. Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. J Genet Couns 2007; 16: 241-260.
16. Vehmanen P, Friedman LS, Eerola H, McClure M, Ward B, Sarantaus L, et al. Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes. Hum Mol Genet 1997; 6: 2309-2315.
17. Gomes MC, Costa MM, Borojevic R, Monteiro AN, Vieira R, Koifman S, et al. Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast Cancer Res Treat 2007; 103: 349-353.
18. Dufloth RM, Carvalho S, Heinrich JK, Shinzato JY, dos Santos CC, Zeferino LC, et al. Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history. São Paulo Med J 2005; 123: 192-197.
19. Ewald IP, Vargas FR, Moreira MA, Filho CM, Cunha DR, Ramos JP, et al. Prevalence of BRCA1 and BRCA2 founder mutations in Brazilian hereditary breast and ovarian cancer families. J Clin Oncol 2008; 26 (Suppl 15): 22108 (Abstract).
20. Beller U, Halle D, Catane R, Kaufman B, Hornreich G, Levy-Lahad E. High frequency of BRCA1 and BRCA2 germline mutations in Ashkenazi Jewish ovarian cancer patients, regardless of family history. Gynecol Oncol 1997; 67: 123-126.