TY - JOUR
T1 - Significantly lower rates of BRCA1/BRCA2 founder mutations in Ashkenazi women with sporadic compared with familial early onset breast cancer
AU - Gershoni-Baruch, R.
AU - Dagan, E.
AU - Fried, G.
AU - Bruchim Bar-Sade, R.
AU - Sverdlov-Shiri, R.
AU - Zelicksson, G.
AU - Friedman, E.
PY - 2000/5
Y1 - 2000/5
N2 - To delineate the clinical, genetic and family history attributes in Jewish Ashkenazi women with early onset (<42 years) breast cancer we genotyped such women for the three predominant Jewish Ashkenazi mutations in BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT). The study cohort was composed of 172 women diagnosed with breast cancer at or before the age of 42 years, obtained from the oncology department registry. Mutations were identified in 54 women (31%). Of 79 women with a positive family history for breast and/or ovarian cancer, and 93 with no such family history, 45 (57%) and 9 (10%), respectively, were mutation carriers (χ2=46; P<0.001). Contralateral breast cancer occurred in 15 of 54 mutation carriers (28%) compared with 8 of 118 (7%) non-carriers (χ2=14; P<0.001). Early onset breast cancer per se is a weak predictor of finding germ line mutation(s) in BRCA1 and BRCA2, unless associated with a positive family history and/or bilaterality. Copyright (C) 2000 Elsevier Science Ltd.
AB - To delineate the clinical, genetic and family history attributes in Jewish Ashkenazi women with early onset (<42 years) breast cancer we genotyped such women for the three predominant Jewish Ashkenazi mutations in BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT). The study cohort was composed of 172 women diagnosed with breast cancer at or before the age of 42 years, obtained from the oncology department registry. Mutations were identified in 54 women (31%). Of 79 women with a positive family history for breast and/or ovarian cancer, and 93 with no such family history, 45 (57%) and 9 (10%), respectively, were mutation carriers (χ2=46; P<0.001). Contralateral breast cancer occurred in 15 of 54 mutation carriers (28%) compared with 8 of 118 (7%) non-carriers (χ2=14; P<0.001). Early onset breast cancer per se is a weak predictor of finding germ line mutation(s) in BRCA1 and BRCA2, unless associated with a positive family history and/or bilaterality. Copyright (C) 2000 Elsevier Science Ltd.
KW - BRCA1
KW - BRCA2
KW - Early-onset breast cancer
KW - Hereditary breast cancer
UR - http://www.scopus.com/inward/record.url?scp=0034073789&partnerID=8YFLogxK
U2 - 10.1016/S0959-8049(00)00045-9
DO - 10.1016/S0959-8049(00)00045-9
M3 - Article
C2 - 10885601
AN - SCOPUS:0034073789
SN - 0959-8049
VL - 36
SP - 983
EP - 986
JO - European Journal of Cancer
JF - European Journal of Cancer
IS - 8
ER -