Functional characterization of BRCA1 gene variants by mini-gene splicing assay.

ABSTRACT: Mutational screening of the breast cancer susceptibility gene BRCA1 leads to the identification of numerous pathogenic variants such as frameshift and nonsense variants, as well as large genomic rearrangements. The screening moreover identifies a large number of variants, for example, missense, silent, and intron variants, which are classified as variants of unknown clinical significance owing to the lack of causal evidence. Variants of unknown clinical significance can potentially have an impact on splicing and therefore functional examinations are warranted to classify whether these variants are pathogenic or benign. Here we validate a mini-gene splicing assay by comparing the results of 24 variants with previously published data from RT-PCR analysis on RNA from blood samples/lymphoblast

SUBMITTER: Steffensen AY 

PROVIDER: S-EPMC4231409 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature