Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability
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- 作者：Paul K. Lovelock ; Ee Ming Wong ; Carl N. Sprung ; Anna Marsh ; Karen Hobson ; Juliet D. French ; Melissa Southey ; kConFab Investigators ; Tom Sculley and Nirmala Pandeya ; et al.
- 关键词：Lymphoblastoid cell lines ; BRCA1 ; BRCA2 ; Post ; IR metabolism
- 刊名：Breast Cancer Research and Treatment
- 出版时间：September, 2007
- 出版年：2007
- 期刊代码：11_01676806
- 类别：ch
- 卷：104
- 期：3
- 页码：257-266
- 数据来源：sp
摘要
Background and purpose Assays to determine the pathogenicity of unclassified sequence variants in disease-associated genes include the analysis of lymphoblastoid cell lines (LCLs). We assessed the ability of several assays of LCLs to distinguish carriers of germline BRCA1 and BRCA2 gene mutations from mutation-negative controls to determine their utility for use in a diagnostic setting.