Robson M, Dabney M K, Rosenthal G, Ludwig S, Seltzer M H, Gilewski T, Haas B, Osborne M, Norton L, Gilbert F, Offit K
Department of Human Genetics, Memorial Sloan-Kettering Cancer Center, NY, USA.
Genet Test. 1997;1(1):47-51. doi: 10.1089/gte.1997.1.47.
The BRCA1 mutations 185delAG and 5382insC and the BRCA2 mutation 6174delT have been detected in a significant proportion of Ashkenazi Jewish women with early-onset breast cancer. A group of 236 Jewish women with breast cancer was screened for the presence of these alterations. Mutations were detected in 25.0% (59/236). Among women with breast cancer diagnosed at or before the age of 45, the prevalence of these mutations was 29.1% (42/144). Among women diagnosed with breast cancer after age 45, mutations were noted in 18.5% (17/92). Among women with a family history of breast or ovarian cancer, the likelihood of detecting a mutation was 32.1% (53/165). BRCA1 185delAG was the most common mutation overall (40/236, 16.9%). The ratio of BRCA1 185delAG to BRCA2 6174delT was 4.0 in women with early-onset breast cancer and 1.3 in women with breast cancer diagnosed after age 45. Clinical features such as age at diagnosis, family history of breast or ovarian cancer, bilateral breast cancer, and personal history of breast and ovarian cancer increase the likelihood of detecting mutations among Ashkenazi women with breast cancer. The yield of testing is low in the absence of any of these features.
在很大一部分患有早发性乳腺癌的阿什肯纳兹犹太女性中检测到了BRCA1基因的185delAG和5382insC突变以及BRCA2基因的6174delT突变。对一组236名患有乳腺癌的犹太女性进行了这些变异的筛查。在25.0%（59/236）的患者中检测到了突变。在45岁及以前被诊断为乳腺癌的女性中，这些突变的患病率为29.1%（42/144）。在45岁以后被诊断为乳腺癌的女性中，有18.5%（17/92）检测到了突变。在有乳腺癌或卵巢癌家族史的女性中，检测到突变的可能性为32.1%（53/165）。BRCA1 185delAG是总体上最常见的突变（40/236，16.9%）。在早发性乳腺癌女性中，BRCA1 185delAG与BRCA2 6174delT的比例为4.0，在45岁以后被诊断为乳腺癌的女性中该比例为1.3。诸如诊断时的年龄、乳腺癌或卵巢癌家族史、双侧乳腺癌以及乳腺癌和卵巢癌个人史等临床特征增加了在患有乳腺癌的阿什肯纳兹女性中检测到突变的可能性。在没有这些特征的情况下，检测的阳性率较低。
