Prevalence of BRCA1 and BRCA2 mutations in women diagnosed with ductal carcinoma in situ
Prevalence of BRCA1 and BRCA2 mutations in women diagnosed with ductal carcinoma in situ
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DOI：
10.1001/jama.293.8.964
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发表时间：
2005-02-23
影响因子：
120.7
通讯作者：
Carter, D
中科院分区：
文献类型：
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作者：
Claus, EB;Petruzella, S;Carter, D
背景：BRCA1和BRCA2突变在诊断为非浸润性乳腺癌的女性中的分布尚不清楚。目的评估未按年龄、家族史或种族选择的女性导管原位癌(DCIS)患者中BRCA1和BRCA2突变的患病率。设计、背景和研究对象1994年9月15日至1998年3月14日，康涅狄格州20岁至79岁的女性居民中确诊的369例导管原位癌患者。这些妇女参与了一项以人群为基础的乳腺癌病例对照研究。通过电话访谈收集危险因素信息，采集血液或口腔标本进行BRCA1和BRCA2突变检测。主要观察指标DCI患者BRCA1和BRCA2基因突变的发生率。结果在369例DCIS患者中，分别有3例(0.8%)和9例(2.4%)存在BRCA1和BRCA2基因突变。一名女性在两个基因(BRCA1 W321X和BRCA2 3398del5)上都发生了突变。携带者比非携带者更有可能报告一级(母亲、姐妹或女儿)乳腺癌家族史(优势比[OR]，3.7；95%可信区间[CI]，1.1-12.4)，以及卵巢癌个人病史。此外，携带者比非携带者更有可能在早期被诊断出来(
Context The distribution of BRCA1 and BRCA2 mutations in women diagnosed with noninvasive breast carcinoma is unknown.Objective To estimate the BRCA1 and BRCA2 mutation prevalence in women with ductal carcinoma in situ (DCIS), unselected for age, family history, or ethnicity.Design, Setting, and Participants The data were 369 DCIS cases diagnosed among female residents aged 20 to 79 years from the state of Connecticut between September 15,1994, and March 14, 1998. These women were participants in a large population-based case-control study of breast carcinoma in situ. Telephone interviews were used to collect risk factor information and blood or buccal specimens were collected for BRCA1 and BRCA2 mutation testing.Main Outcome Measures Prevalence of disease-associated mutations of BRCA1 and BRCA2 in women diagnosed with DCIS.Results Three (0.8%) and 9 (2.4%) of 369 DCIS cases had disease-associated mutations in BRCA1 or BRCA2, respectively. One woman had a mutation in both genes (BRCA1 W321X and BRCA2 3398del5). Carriers were significantly more likely than noncarriers to report a first-degree (mother, sister, or daughter) family history of breast cancer (odds ratio [OR], 3.7; 95% confidence interval [CI], 1.1 -12.4), as well as a personal history of ovarian cancer. In addition, carriers were more likely than noncarriers to be diagnosed at an early age (