Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer
Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer
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DOI：
10.1136/jmedgenet-2015-103672
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发表时间：
2016-07-01
影响因子：
4
通讯作者：
Engel, Christoph
中科院分区：
文献类型：
--
作者：
Kast, Karin;Rhiem, Kerstin;Engel, Christoph
目的了解乳腺癌(BC)和卵巢癌(OC)家族中BRCA1和BRCA2致病胚系突变的发生率。方法收集1996年至2014年在德国遗传性乳腺癌和卵巢癌联合会的21 401个家系的临床资料，包括所有成员在首次咨询时的癌症状况和BRCA1/2突变状况。结果BRCA1/2突变发生率为24.0%(95%CI 23.4%~24.6%)。突变频率最高的是至少有两个OCS的家族(41.9%，95%CI 36.1%~48.0%)和至少有一个乳房和OC的家族(41.6%，95%CI 40.3%~43.0%)，其次是男性BC至少有一位女性BC或OC(35.8%；95%CI 32.2%~39.6%)。在有单一BC早期病例的家庭中(
Purpose To characterise the prevalence of pathogenic germline mutations in BRCA1 and BRCA2 in families with breast cancer (BC) and ovarian cancer (OC) history.Patients and methods Data from 21 401 families were gathered between 1996 and 2014 in a clinical setting in the German Consortium for Hereditary Breast and Ovarian Cancer, comprising full pedigrees with cancer status of all individual members at the time of first counselling, and BRCA1/2 mutation status of the index patient.Results The overall BRCA1/2 mutation prevalence was 24.0% (95% CI 23.4% to 24.6%). Highest mutation frequencies were observed in families with at least two OCs (41.9%, 95% CI 36.1% to 48.0%) and families with at least one breast and one OC (41.6%, 95% CI 40.3% to 43.0%), followed by male BC with at least one female BC or OC (35.8%; 95% CI 32.2% to 39.6%). In families with a single case of early BC (