Results from both studies were concordant in confirming that germline protein truncating variants (PTVs) in BRCA1, BRCA2 and PALB2 are associated with high-risk of breast cancer, that PTVs in CHEK2 and ATM confer moderate risk especially for the ER-positive disease subtype, and that PTVs in RAD51C, RAD51D and BARD1 are moderate risk variants for ER-negative breast cancer. This evidence concerns the gene BRCA1 and breast cancer.