BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica

Clinical Genetics

Volumn 82, Issue 5, 2012, Pages 484-488

  Gutierrez Espeleta G A ^a   Llacuachaqui, M ^b   Garcia Jimenez L ^a   Aguilar Herrera, M ^c   Loaiciga Vega K ^d   Ortiz, A ^e   Royer, R ^b   Li, S ^b   Narod, S A ^b  

^a UNIVERSIDAD DE COSTA RICA   (Costa Rica)

^b WOMEN S COLLEGE HOSPITAL   (Canada)

^c Clínica San Rafael   (Costa Rica)

^d HOSPITAL SAN JUAN DE DIOS   (Costa Rica)

^e Caja Costarricense del Seguro Social   (Costa Rica)

Author keywords

BRCA1; BRCA2; Breast cancer; Costa Rica; Hereditary

Indexed keywords

ARTICLE; BREAST CANCER; COSTA RICA; FAMILIAL CANCER; FEMALE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; ONCOGENE; PRIORITY JOURNAL; PROSTATE CANCER; STOMACH CANCER; TUMOR SUPPRESSOR GENE;

ADULT; AGED; BRCA2 PROTEIN; BREAST NEOPLASMS; COSTA RICA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION; OVARIAN NEOPLASMS; PEDIGREE; PROSTATIC NEOPLASMS; STOMACH NEOPLASMS; UBIQUITIN-PROTEIN LIGASES;

EID: 84861407375     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01774.x     Document Type: Article

References (33)

1. International Agency for Research on Cancer. GLOBOCAN 2002. From http://www-dep.iarc.fr/.
2. Antoniou A et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003: 72 (5): 1117-1130.
3. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 2007: 25 (11): 1329-1333.
4. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 1994: 343 (8899): 692-695.
5. King MC, Marks JH, Mandell JB, New York Breast Cancer Study G. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003: 302 (5645): 643-646.
6. Thompson D, Easton D, Breast Cancer Linkage Consortium. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 2001: 68 (2): 410-419.
7. Thompson D, Easton D, Breast Cancer Linkage Consortium. Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol Biomarkers Prev 2002: 11 (4): 329-336.
8. Narod SA. Screening for BRCA1 and BRCA2 mutations in breast cancer patients from Mexico: the public health perspective. Salud Publica Mex 2009: 51 (Suppl. 2): s191-s196.
9. Tonin P et al. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat Med 1996: 2 (11): 1179-1183.
10. Warner E et al. Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl Cancer Inst 1999: 91 (14): 1241-1247.
11. Gorski B et al. Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am J Hum Genet 2000: 66 (6): 1963-1968.
12. Tonin PN et al. Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am J Hum Genet 1998: 63 (5): 1341-1351.
13. Narod SA, Foulkes WD. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 2004: 4 (9): 665-676.
14. Gallardo M et al. Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations. Breast Cancer Res Treat 2006: 95 (1): 81-87.
15. Ruiz-Flores P et al. BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico. Hum Mutat 2002: 20 (6): 474-475.
16. Torres D et al. High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. Breast Cancer Res Treat 2007: 103 (2): 225-232.
17. Calderon-Garciduenas AL, Ruiz-Flores P, Cerda-Flores RM, Barrera-Saldana HA. Clinical follow up of Mexican women with early onset of breast cancer and mutations in the BRCA1 and BRCA2 genes. Salud Publica Mex 2005: 47 (2): 110-115.
18. Jara L et al. BRCA1 and BRCA2 mutations in a South American population. Cancer Genet Cytogenet 2006: 166 (1): 36-45.
19. Kuperstein G, Jack E, Narod SA. A fluorescent multiplex-DGGE screening test for mutations in the BRCA1 gene. Genet Test 2006: 10 (1): 1-7.
20. Kuperstein G, Foulkes WD, Ghadirian P, Hakimi J, Narod SA. A rapid fluorescent multiplexed-PCR analysis (FMPA) for founder mutations in the BRCA1 and BRCA2 genes. Clin Genet 2000: 57 (3): 213-220.
21. Liede A, Malik IA, Aziz Z, Rios Pd Pde L, Kwan E, Narod SA. Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. Am J Hum Genet 2002: 71 (3): 595-606.
22. Janavičius R. Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. EPMA J 2010: 1 (3): 397-412.
23. John EM et al. Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. JAMA 2007: 298 (24): 2869-2876.
24. Gomes MC et al. Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast Cancer Res Treat 2007: 103 (3): 349-353.
25. Jakubowska A et al. A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer. Eur J Hum Genet 2003: 11 (12): 955-958.
26. Narod SA et al. Familial breast-ovarian cancer locus on chromosome 17q12-q23. Lancet 1991: 338 (8759): 82-83.
27. Liede A, Jack E, Hegele RA, Narod SA. A BRCA1 mutation in native North American families. Hum Mutat 2002: 19 (4): 460.
28. Unger MA et al. Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing. Am J Hum Genet 2000: 67 (4): 841-850.
29. Walsh T et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 2006: 295 (12): 1379-1388.
30. Torres D et al. Estudio de factores genéticos para cáncer de mama en Colombia. Univ Med Bogotá 2009: 50 (3): 297-301.
31. Weitzel JN et al. Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev 2005: 14 (7): 1666-1671.
32. Rodriguez RC et al. Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba. Fam Cancer 2008: 7 (3): 275-279.
33. Torres D et al. Absence of the BRCA1 del (exons 9-12) mutation in breast/ovarian cancer families outside of Mexican Hispanics. Breast Cancer Res Treat 2009: 117 (3): 679-681.