Differential Profile of BRCA1 vs. BRCA2 Mutated Families: A Characterization of the Main Differences and Similarities in Patients.

Differential Profile of BRCA1 vs. BRCA2 Mutated Families: A Characterization of the Main Differences and Similarities in Patients. Asian Pac J Cancer Prev. 2019 Jun 01;20(6):1655-1660 Authors: Fernandes GC, Felicio PS, Michelli RAD, Coelho AS, Scapulatempo-Neto C, Palmero EI Abstract The identification of families at-risk for hereditary breast cancer (BC) is important because affected individuals<br />present a much higher cancer risk than the general population. The aim of this study was to identify the most important<br />factors associated with the presence of a pathogenic BRCA1/BRCA2 mutation. Family history (FH), histopathological<br />and immunohistochemical characteristics were compared among BC women with pathogenic BRCA1/BRCA2 variants;<br />VUSs in BRCA1/BRCA2; BRCA1/BRCA2 WT and sporadic BC. The most significative differences observed concerned<br />the molecular subtype of the tumors, age at cancer diagnosis and FH of cancer. The presence of bilateral breast cancer<br />(BBC), number of BC cases and the presence of ovarian cancer (OC) increased (respectively) 5.797, 5.033 and 4.412<br />times the risk of being a BRCA1/BRCA2 mutation carrier. Besides, women with BRCA1 or BRCA2 mutations presented<br />different tumor and FH profiles. The main characteristics associated with a BRCA1 mutation were triple negativity<br />(OR: 17.31), BBC history (OR: 4.96) and occurrence o...
Source: Asian Pacific Journal of Cancer Prevention - Category: Cancer & Oncology Tags: Asian Pac J Cancer Prev Source Type: research