PALB2 mutations The PALB2 (partner and localizer of BRCA2) gene encodes for a nuclear protein which co-localizes with BRCA1/2 and acts as functional bridge between the two proteins providing stability to this complex by preventing proteosomal degradation. Germline truncating mutations in PALB2 gene, which is located on chromosome 16p12, have been identified in approximately 3% […]
BRCA2 mutations BRCA2 (Breast Cancer Susceptibility Gene 2) is a large tumor suppressor gene, located in the 13q12 region and has 26 exons. BRCA2 protein functions in the Fanconi anemia pathway, which is partly responsible for genome-maintenance. There are over 1200 BRCA2 germline mutations described in this gen, being the majority (80%) nonsense or frameshift
BRCA1 mutations BRCA1 (Breast Cancer Susceptibility Gene 1) is a large tumor suppressor gene, located in the 17q21 region and has 24 exons. The protein plays a central role in maintaining genomic structural stability. There are over 1500 mutations described in this gene and no hot spots are being found. Women patients presenting mutations in
