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May 14, 2026Genetics in Medicine0 citationsOpen Access

Germline ATRIP variants and the risk of ovarian cancer

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NZNeda ZamaniUniversity of TorontoDWDominika WokołorczykInternational Hereditary Cancer CenterWKWojciech KluźniakInternational Hereditary Cancer Center

Key Points

  • This study examines the link between ATRIP gene variants and the risk of developing ovarian cancer.
  • Genotyping the ATRIP c.1152_1155del variant in 3404 Polish women with ovarian cancer and 9285 controls.
  • Sequencing ATRIP coding exons among 1322 ovarian cancer patients and 930 healthy women in Ontario, Canada.
  • Combined analysis adjusted for age, ethnicity, and study.
  • In the Polish population, the ATRIP variant was found in 8 ovarian cancer cases (OR = 1.98, P = .19) and 11 controls.
  • Ontario cohort identified 4 cases with ATRIP loss-of-function variants, none in controls (OR = 5.6, P = .14).
  • In combined analysis, ATRIP variants associated with ovarian cancer risk (OR = 2.51, P = .037).

Abstract

PURPOSE: We have previously reported that inherited variants in ATRIP confer a 3-fold risk of developing breast cancer. Here, we investigated potential association between this novel breast cancer susceptibility gene and the risk of ovarian cancer. METHODS: We genotyped the ATRIP c. 1152₁155del p. (Gly385Ter) Polish founder variant on germline DNA from 3404 Polish women with ovarian cancer and 9285 healthy controls. Additionally, we sequenced all coding exons of ATRIP among 1322 unselected ovarian cancer patients and 930 cancer-free women from Ontario, Canada. RESULTS: The heterozygous ATRIP c. 1152₁155del p. (Gly385Ter) variant was identified in 8 of 3404 ovarian cancer cases and 11 of 9285 controls in the Polish population (OR = 1. 98, 95% CI = 0. 79-4. 94, P =. 19). In the Ontario cohort, 4 ovarian cancer cases harbored ATRIP loss-of-function (LoF) variants, versus none observed among controls (OR = 5. 6, P =. 14). In a combined analysis of both cohorts, adjusted for age, self-reported ethnicity, and study, ATRIP LoF variants were significantly associated with ovarian cancer risk (OR = 2. 51, 95% CI = 1. 108-5. 699, P =. 037). CONCLUSION: ATRIP plays a critical role in DNA damage response and genomic stability. Our findings support its candidacy as a novel ovarian cancer susceptibility gene.

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Cite This Study

Zamani et al. (2026) studied this question.

synapsesocial.com/papers/6a0567fda550a87e60a203b4https://doi.org/10.1016/j.gim.2026.102547
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