Article
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
Human mutation - 1 Mar 2010
Borg Ake, Haile Robert W, Malone Kathleen E, Capanu Marinela, Diep Ahn, Törngren Therese, Teraoka Sharon, Begg Colin B, Thomas Duncan C, Concannon Patrick, Mellemkjaer Lene, Bernstein Leslie, Tellhed Lina, Xue Shanyan, Olson Eric R, Liang Xiaolin, Dolle Jessica, Børresen-Dale Anne-Lise, Bernstein Jonine L
Abstract excerpt
BRCA1 and BRCA2 screening in women at high-risk of breast cancer results in the identification of both unambiguously defined deleterious mutations and sequence variants of unknown clinical significance (VUS). We examined a population-based sample of young women with contralateral breast cancer (CBC, n=705) or unilateral breast cancer (UBC, n=1398). We identified 470 unique sequence variants, of which 113 were...
Topics
- Adult
- Alleles
- Apoptosis Regulatory Proteins
- BRCA1 Protein
- BRCA2 Protein
- Breast Neoplasms
- DNA Mutational Analysis
- Female
- Gene Deletion