@article { author = {Fernandes, Gabriela Carvalho and Felicio, Paula Silva and Michelli, Rodrigo Augusto Depieri and Coelho, Aline Silva and Scapulatempo-Neto, Cristovam and Palmero, Edenir Inêz}, title = {Differential Profile of BRCA1 vs. BRCA2 Mutated Families: A Characterization of the Main Differences and Similarities in Patients}, journal = {Asian Pacific Journal of Cancer Prevention}, volume = {20}, number = {6}, pages = {1655-1660}, year = {2019}, publisher = {West Asia Organization for Cancer Prevention (WAOCP), APOCP's West Asia Chapter.}, issn = {1513-7368}, eissn = {2476-762X}, doi = {10.31557/APJCP.2019.20.6.1655}, abstract = {The identification of families at-risk for hereditary breast cancer (BC) is important because affected individualspresent a much higher cancer risk than the general population. The aim of this study was to identify the most importantfactors associated with the presence of a pathogenic BRCA1/BRCA2 mutation. Family history (FH), histopathologicaland immunohistochemical characteristics were compared among BC women with pathogenic BRCA1/BRCA2 variants;VUSs in BRCA1/BRCA2; BRCA1/BRCA2 WT and sporadic BC. The most significative differences observed concernedthe molecular subtype of the tumors, age at cancer diagnosis and FH of cancer. The presence of bilateral breast cancer(BBC), number of BC cases and the presence of ovarian cancer (OC) increased (respectively) 5.797, 5.033 and 4.412times the risk of being a BRCA1/BRCA2 mutation carrier. Besides, women with BRCA1 or BRCA2 mutations presenteddifferent tumor and FH profiles. The main characteristics associated with a BRCA1 mutation were triple negativity(OR: 17.31), BBC history (OR: 4.96) and occurrence of OC (OR: 4.32). There were no major discerning componentsassociated with BRCA2 mutations. Thus, we conclude that tumor pathology and FH of cancer might be consideredtogether at the time of genetic testing mainly in countries where access to genetic testing is still restricted.}, keywords = {hereditary breast cancer,family history of cancer,BRCA1 vs. BRCA2 mutated patients}, url = {https://journal.waocp.org/article_88294.html}, eprint = {https://journal.waocp.org/article_88294_ad308051fe4039f5a6042359a245e35e.pdf} }