TY - JOUR AU - Cusin, Isabelle AU - Teixeira, Daniel AU - Zahn-Zabal, Monique AU - Rech de Laval, Valentine AU - Gleizes, Anne AU - Viassolo, Valeria AU - Chappuis, Pierre O. AU - Hutter, Pierre AU - Bairoch, Amos AU - Gaudet, Pascale PY - 2018 DA - 2018/07/11 TI - A new bioinformatics tool to help assess the significance of BRCA1 variants JO - Human Genomics SP - 36 VL - 12 IS - 1 AB - Germline pathogenic variants in the breast cancer type 1 susceptibility gene BRCA1 are associated with a 60% lifetime risk for breast and ovarian cancer. This overall risk estimate is for all BRCA1 variants; obviously, not all variants confer the same risk of developing a disease. In cancer patients, loss of BRCA1 function in tumor tissue has been associated with an increased sensitivity to platinum agents and to poly-(ADP-ribose) polymerase (PARP) inhibitors. For clinical management of both at-risk individuals and cancer patients, it would be important that each identified genetic variant be associated with clinical significance. Unfortunately for the vast majority of variants, the clinical impact is unknown. The availability of results from studies assessing the impact of variants on protein function may provide insight of crucial importance. SN - 1479-7364 UR - https://doi.org/10.1186/s40246-018-0168-0 DO - 10.1186/s40246-018-0168-0 ID - Cusin2018 ER -