期刊
CANCER LETTERS
卷 302, 期 2, 页码 113-118出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.canlet.2010.12.020
关键词
FANCA; Breast cancer susceptibility; Candidate gene; Germline deletion; MLPA
类别
资金
- Finnish Cancer Organizations
- Ida Montini Foundation
- Northern Finnish Cancer Foundation
- Tyyni Tani Foundation
- Sigrid Juselius Foundation
- Academy of Finland
- Orion-Farmos Research Foundation
- University of Oulu
- Oulu University Hospital
A portion of familial breast cancer cases are caused by mutations in the same genes that are inactivated in the downstream part of Fanconi anemia (FA) signaling pathway. Here we have assessed the FANCA gene for breast cancer susceptibility by examining blood DNA for aberrations from 100 Northern Finnish breast cancer families using the MLPA method. We identified a novel heterozygous deletion, removing the promoter and 12 exons of the gene in one family. This allele was absent from 124 controls. We conclude that FANCA deletions might contribute to breast cancer susceptibility, potentially in combination with other germline mutations. To our knowledge, this is the first study reporting a large deletion in an upstream FA gene in familial breast cancer. (C) 2010 Elsevier Ireland Ltd. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据