Double heterozygosity in the BRCA1 and BRCA2 genes in the Jewish population

Annals of Oncology

Volumn 22, Issue 4, 2011, Pages 964-966

  Lavie, O ^a   Narod, S ^b   Lejbkowicz, F ^a   Dishon, S ^a   Goldberg, Y ^a   Gemer, O ^a   Rennert, G ^a  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

Ashkenazi Jewish women; BRCA; Double mutations

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; AGE DISTRIBUTION; ARTICLE; BREAST CANCER; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; FAMILY STUDY; FEMALE; GENE DELETION; GENE FREQUENCY; GENE INSERTION; HETEROZYGOSITY; HUMAN; ISRAEL; JEW; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; ONCOGENE; OVARY CARCINOMA; POPULATION RESEARCH; PRIORITY JOURNAL; SEX DIFFERENCE;

EID: 79953306836     PISSN: 09237534     EISSN: 15698041     Source Type: Journal    
DOI: 10.1093/annonc/mdq460     Document Type: Article

References (13)

1. Rennert G, Bisland-Naggan S, Bar-Joseph N. Outcome of breast cancer in BRCA mutation carriers in Israel. N Engl J Med 2007; 357: 115-123.
2. Rennert G, Dishon S, Rennert HS, Fares F. Phenotypic characteristics of families with BRCA1 and BRCA2 mutations in Israel. Eur J Cancer Prev 2005; 14: 357-361.
3. Modan B, Gak E, Sade-Bruchim RB et al. High frequency of BRCA1 185delAG mutation in ovarian cancer in Israel. National Israel Study of Ovarian Cancer. JAMA 1996; 276: 1823-1825.
4. Spannuth WA, Thaker PH, Sood AK. Concomitant BRCA1 and BRCA2 gene mutations in an Ashkenazi Jewish woman with primary breast and ovarian cancer. Am J Obstet Gynecol 2007; 196: e6-e9.
5. Leegte B, van der Hout AH, Deffenbaugh AM et al. Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations. J Med Genet 2005; 42: e20.
6. Frank TS, Deffenbaugh AM, Reid JE et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 2002; 20: 1480-1490.
7. Friedman E, Bar-Sade BR, Kruglikova A et al. Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes. Am J Hum Genet 1998; 63: 1224-1227.
8. Roa BB, Boyd AA, Volcik K, Richards CS. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 1996; 14: 185-187.
9. Tonin P, Weber B, Offit K et al. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat Med 1996; 2: 1179-1183.
10. Bell DW, Erban J, Sgroi DC, Haber DA. Selective loss of heterozygosity in multiple breast cancers from a carrier of mutations in both BRCA1 and BRCA2. Cancer Res 2002; 62: 2741-2743.
11. Choi DH, Lee MH, Haffty BG. Double heterozygotes for non-Caucasian families with mutations in BRCA-1 and BRCA-2 genes. Breast J 2006; 12(3): 216-220.
12. Smith M, Fawcett S, Sigalas E et al. Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes. Fam Cancer 2008; 7(2): 119-124. Epub 2007 Jul 17.
13. Cvelbar M, Ursic-Vrscaj M, Rakar S. Risk factors and prognostic factors in patients with double primary cancer: epithelial ovarian cancer and breast cancer. Eur J Gynaecol Oncol 2005; 26(1): 59-63.