Four of these patients presented PV/LPV in moderate-penetrance breast/ovarian cancer susceptibility genes (ATM, BARD1, RAD51C), while one patient presented a LPV in a gene with no established association with breast/ovarian cancer (SLX4), but for which loss-of-function variants might contribute to breast cancer in rare cases33–35. The gene discussed is SLX4; the disease is breast cancer.