Germline ATRIP variants and the risk of ovarian cancer.

ATRIP LOF variants: ovarian cancer risk (OR=2.51), extension of tumor spectrum

Germline ATRIP loss-of-function variants, already associated with a 3-fold increased breast cancer risk, were studied for ovarian cancer risk in two cohorts (3,404 Polish ovarian cancer patients + 9,285 controls; 1,322 Ontario patients + 930 controls). In the combined adjusted analysis, ATRIP LOF variants were significantly associated with ovarian cancer (OR=2.51, 95%CI 1.108–5.699, p=0.037). ATRIP plays an essential role in DNA damage response and genomic stability.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

ATRIP emerges as an HBOC predisposition candidate gene with a spectrum now covering both breast and ovarian cancer. The OR of 2.5 for ovarian cancer is comparable to moderate-risk genes like RAD51C/D. Cohort size remains limiting for a significant association, but consistency across two independent populations is encouraging. Candidate for future inclusion in HBOC panels.

Clinical impact: 1/3 · Evidence quality: 2/3 · Novelty: 2/2 · Sample size: 0/1 · Journal quality: 1/1 → Total: 6/10