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男性乳腺癌患者的种系BRCA2基因突变

Germline BRCA2 mutations in men with breast cancer.

作者信息

Mavraki E, Gray I C, Bishop D T, Spurr N K

机构信息

Imperial Cancer Research Fund, Genetic Epidemiology, St James's Hospital, Leeds, UK.

出版信息

Br J Cancer. 1997;76(11):1428-31. doi: 10.1038/bjc.1997.574.

DOI:10.1038/bjc.1997.574
PMID:9400938
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2228180/
Abstract

Breast cancer in men is rare and is clearly due in some cases to an inherited predisposition. A total of 28 male breast cancer patients were tested for BRCA2 mutations; two frameshifts and one putative missense mutation were identified. One of the frameshifts was detected in the same position as a mutation estimated to be responsible for 40% of all male breast cancer cases in Iceland.

摘要

男性乳腺癌较为罕见，在某些情况下显然是由遗传易感性所致。对总共28名男性乳腺癌患者进行了BRCA2突变检测；发现了两个移码突变和一个推定的错义突变。其中一个移码突变在与据估计导致冰岛所有男性乳腺癌病例40%的一个突变相同的位置被检测到。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d50/2228180/05862d1e3585/brjcancer00175-0039-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d50/2228180/05862d1e3585/brjcancer00175-0039-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d50/2228180/05862d1e3585/brjcancer00175-0039-a.jpg

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本文引用的文献

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Cloning, chromosomal mapping and expression pattern of the mouse Brca2 gene.小鼠Brca2基因的克隆、染色体定位及表达模式
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