Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants

It is well established that carriers of pathogenic BRCA mutations are at an increased risk in women for breast, ovarian, pancreatic cancer and melanoma, and in men, prostate, pancreatic, male breast cancer, and melanoma. To this group of cancers, a recent study from Japan that reviewed 63,828 patients and 37,086 controls found even more cancers that have an increased risk from these pathogenic variants, i.e.: biliary, esophageal, and gastric cancers.

JAMA Oncol 2022;8:871-878