Contribution of BRCA1 and BRCA2 to familial ovarian cancer: a gynecologic oncology group study.
Contribution of BRCA1 and BRCA2 to familial ovarian cancer: a gynecologic oncology group study.
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BRCA1 和 BRCA2 对家族性卵巢癌的贡献：妇科肿瘤小组研究。
DOI：
10.1006/gyno.2002.6615
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发表时间：
2002
期刊：
影响因子：
--
通讯作者：
Smith,SimonA
中科院分区：
文献类型：
--
作者：
Reedy,Mark;Gallion,Holly;Fowler,JeffreyM;Kryscio,Richard;Smith,SimonA
ObjectivesThe aim of the study was to determine the prevalence of BRCA1 and BRCA2 germline mutations among ovarian cancer patients ascertained to have a family history of ovarian cancer.MethodsOvarian cancer patients were eligible if they had a family history of cancer that met any one of the following criteria: (1) a first-degree relative with ovarian cancer; (2) a second-degree relative with ovarian cancer plus a first-degree relative with breast cancer (diagnosed younger than 50 years of age); or (3) a first- and a second-degree relative with breast cancer (diagnosed younger than 50 years of age). The entire coding sequence of BRCA1 and exon 11 of BRCA2 were screened for germline alterations by single-strand conformation polymorphism analysis.ResultsOf 26 eligible patients screened for mutations, 12 had deleterious alterations, 8 in BRCA1 and 4 in BRCA2. A correlation was noted between the presence of a BRCA1 mutation and the strength of family history of breast ovarian cancer, with the likelihood of a mutation increasing with the number of affected relatives (P = 0.0002). No association was detected between the location of mutations in BRCA1 and the ratio of ovarian cancer cases relative to breast cancer (P = 0.28).ConclusionsMutations in BRCA1 or BRCA2 are present in about 50% of ovarian cancer patients with at least one first-degree relative with disease, and in 70% of patients with two or more relatives with ovarian cancer.
