Pathogenic variants (disease-causing) in the BRIP1 gene are associated with an increased risk of ovarian cancer. There may also be a modest increase in breast cancer risk, but more research is needed. Management of BRIP1–related tumor risk includes regular surveillance tailored to guidelines to detect tumors early as well as risk-reduction (surgery or medications). BRIP1 variants are not known to be more common in the Ashkenazi Jewish population.
Pathogenic variants in BRIP1 exhibit autosomal dominant inheritance. This means there is a 50% chance the condition can be passed from generation-to-generation. First degree relatives (parents, siblings, children) have a 50% chance to have the same pathogenic variant whereas second degree relatives (grandparents, aunts/uncles, nieces/nephews, half-siblings) have a 25% chance. More distant relatives have lower chances of having the same pathogenic variant when one is identified in the family.
In addition, when an individual inherits pathogenic variants in both copies of the BRIP1 gene, it can cause a rare childhood-onset condition called Fanconi anemia. Fanconi anemia involves bone marrow failure, congenital abnormalities, and a markedly increased risk of leukemia and other childhood cancers. This condition deficiency exhibits autosomal recessive inheritance. This means that both parents must be have a single pathogenic variant in the BRIP1 gene to have a 25% chance to have a child with the condition.
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Written December 2025
