Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability.

doi:10.1007/s10549-006-9415-5

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Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability.

Breast cancer research and treatment - 1 Sept 2007

Lovelock Paul K, Wong Ee Ming, Sprung Carl N, Marsh Anna, Hobson Karen, French Juliet D, Southey Melissa, Sculley Tom, Pandeya Nirmala, Brown Melissa A, Chenevix-Trench Georgia, Spurdle Amanda B, McKay Michael J

Abstract excerpt

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 mutation...

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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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