Male breast cancer in the hereditary nonpolyposis colorectal cancer syndrome
Male breast cancer in the hereditary nonpolyposis colorectal cancer syndrome
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DOI：
10.1023/a:1006030116357
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发表时间：
1999-01-01
影响因子：
3.8
通讯作者：
Lynch, HT
中科院分区：
文献类型：
--
作者：
Boyd, J;Rhei, E;Lynch, HT
一名男性成员的一个大的HNPCC家族，受原发性恶性肿瘤的乳腺癌和结肠癌，被确定。这个人被发现怀有MLH1错配修复基因的种系突变，以前显示在这个家族中与疾病分离。乳腺肿瘤表现出体细胞减少到纯合性的MLH1突变，微卫星不稳定性是明显的乳腺肿瘤。我们的结论是，遗传性男性乳腺癌可以发生作为一个完整的肿瘤在HNPCC综合征。
A male member of a large HNPCC kindred, affected by primary malignancies of the breast and colon, was identified. This individual was found to harbor a germline mutation of the MLH1 mismatch repair gene previously shown to segregate with disease in this kindred. The breast tumor exhibited somatic reduction to homozygosity for the MLH1 mutation, and microsatellite instability was evident in the breast tumor. We conclude that hereditary male breast cancer can occur as an integral tumor in the HNPCC syndrome.