BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression

Waddell, N, Ten Haaf, A, Marsh, A, Johnson, J, Walker, LC, Gongora, M, Brown, M, Grover, P, Girolami, M, Grimmond, S, Chenevix-Trench, G, Spurdle, AB and kConFab Investigators (2008) BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression. PLoS Genetics, 4 5: Article Number: e1000080. doi:10.1371/journal.pgen.1000080


Author Waddell, N
Ten Haaf, A
Marsh, A
Johnson, J
Walker, LC
Gongora, M
Brown, M
Grover, P
Girolami, M
Grimmond, S
Chenevix-Trench, G
Spurdle, AB
kConFab Investigators
Title BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression
Journal name PLoS Genetics   Check publisher's open access policy
ISSN 1553-7390
Publication date 2008-05-23
Year available 2008
Sub-type Article (original research)
DOI 10.1371/journal.pgen.1000080
Open Access Status DOI
Volume 4
Issue 5
Start page Article Number: e1000080
Total pages 9
Place of publication San Francisco, CA, USA
Publisher Public Library Science
Collection year 2009
Language eng
Subject 270201 Gene Expression
C1
970106 Expanding Knowledge in the Biological Sciences
Abstract The functional consequences of missense variants in disease genes are difficult to predict. WE assessed if gene expression profiles could distinguish between BRCA1 or BRCA2 pathogenic truncating and missense mutation carriers and familial breast cancer cases whose disease was not attributable to BRCA1 or BRCA2 mutations (BRCAX cases).
Keyword Hereditary Breast-Cancer
DNA-Sequence Variants
Functional-Analysis
Ionizing-Radiation
Mutation
Risk
Classification
Substitutions
Profiles
Ovarian-Cancer
Q-Index Code C1
Q-Index Status Confirmed Code
Additional Notes 2008 Waddell et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

 
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Created: Tue, 17 Feb 2009, 10:29:09 EST by Cody Mudgway on behalf of Queensland Institute of Medical Research