威尔士乳腺癌家族中的BRCA1和BRCA2：中等突变频率以及BRCA1中的两种复发性突变

BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1.

作者信息

Lancaster J M, Carney M E, Gray J, Myring J, Gumbs C, Sampson J, Wheeler D, France E, Wiseman R, Harper P, Futreal P A

机构信息

Department of Surgery, Duke University Medical Center, Durham, NC 27710, USA.

出版信息

Br J Cancer. 1998 Dec;78(11):1417-20. doi: 10.1038/bjc.1998.701.

DOI:10.1038/bjc.1998.701

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2063207/

Abstract

Mutations in the BRCA1/BRCA2 genes account for varying proportions of breast cancer families studied, and demonstrate considerable variation in mutational spectra coincident with ethnic and geographical diversity. We have screened for mutations in 17 families from Wales with two or more cases of breast cancer under age 50 and/or ovarian cancer. Eight out of 17 (47%) families had demonstrable mutations. Six out of 17 (35%) carried BRCA1 mutations and 2 out of 17 (12%) carried BRCA2 mutations. Two recurrent mutations in BRCA1 were identified, which appear to represent founder mutations in this population. These data support the existence of additional breast and ovarian cancer susceptibility genes.

摘要

BRCA1/BRCA2基因的突变在已研究的乳腺癌家族中所占比例各不相同，并且在突变谱方面表现出与种族和地域多样性相一致的显著差异。我们对来自威尔士的17个家族进行了突变筛查，这些家族中有两例或更多例50岁以下乳腺癌和/或卵巢癌病例。17个家族中有8个（47%）有可证实的突变。17个家族中有6个（35%）携带BRCA1突变，17个家族中有2个（12%）携带BRCA2突变。在BRCA1中鉴定出两个复发性突变，这似乎代表了该人群中的奠基者突变。这些数据支持存在其他乳腺癌和卵巢癌易感基因。

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