Article
Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.
Human mutation - 1 May 2006
Chen Xiaowei, Truong Tuyet-Trinh N, Weaver JoEllen, Bove Betsy A, Cattie Kimberly, Armstrong Brock A, Daly Mary B, Godwin Andrew K
Abstract excerpt
Germline mutations in the human breast cancer susceptibility genes BRCA1 and BRCA2 account for the majority of hereditary breast and ovarian cancer. In spite of the large number of sequence variants identified in BRCA1 and BRCA2 mutation analyses, many of these genetic alterations are still classified as variants of unknown significance (VUS). In this study, we evaluated 12 BRCA1/2 intronic variants in order to...
Topics
- Antimetabolites, Antineoplastic
- BRCA1 Protein
- BRCA2 Protein
- Base Sequence
- Cell Line
- DNA Mutational Analysis
- Female
- Humans
- Introns
- Molecular Sequence Data
- Mutation