男性乳腺癌群体中BRCA1和BRCA2的突变分析。
Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population.
作者信息
Friedman L S, Gayther S A, Kurosaki T, Gordon D, Noble B, Casey G, Ponder B A, Anton-Culver H
机构信息
CRC Human Cancer Genetics Research Group, Addenbroke's Hospital, University of Cambridge, United Kingdom.
出版信息
Am J Hum Genet. 1997 Feb;60(2):313-9.
A population-based series of 54 male breast cancer cases from Southern California were analyzed for germ-line mutations in the inherited breast/ovarian cancer genes, BRCA1 and BRCA2. Nine (17%) of the patients had a family history of breast and/or ovarian cancer in at least one first-degree relative. A further seven (13%) of the patients reported breast/ovarian cancer in at least one second-degree relative and in no first-degree relatives. No germ-line BRCA1 mutations were found. Two male breast cancer patients (4% of the total) were found to carry novel truncating mutations in the BRCA2 gene. Only one of the two male breast cancer patients carrying a BRCA2 mutation had a family history of cancer, with one case of ovarian cancer in a first-degree relative. The remaining eight cases (89%) of male breast cancer with a family history of breast/ovarian cancer in first-degree relatives remain unaccounted for by mutations in either the BRCA1 gene or the BRCA2 gene.
对来自南加州的一系列54例男性乳腺癌病例进行了分析，以研究遗传性乳腺癌/卵巢癌基因BRCA1和BRCA2中的种系突变。9名（17%）患者至少有一位一级亲属患有乳腺癌和/或卵巢癌家族史。另有7名（13%）患者报告至少有一位二级亲属患有乳腺癌/卵巢癌，而一级亲属中无人患病。未发现种系BRCA1突变。两名男性乳腺癌患者（占总数的4%）被发现携带BRCA2基因的新型截短突变。两名携带BRCA2突变的男性乳腺癌患者中只有一人有癌症家族史，其一级亲属中有一例卵巢癌。其余8例（89%）一级亲属中有乳腺癌/卵巢癌家族史的男性乳腺癌病例无法用BRCA1基因或BRCA2基因的突变来解释。
Zotero 插件