Genetic risk factors for ovarian cancer and their role for endometriosis risk

Stefanie Burghaus, Peter A. Fasching, Fasching PA, Häberle L, Lothar Häberle, Rübner M, Matthias Rübner, Kathrin Büchner, Büchner K, Simon Blum, S Blum, Anne Engel, Engel A, Arif B. Ekici, Hartmann A, Arndt Hartmann, Alexander Hein, Hein A, Matthias W. Beckmann, Beckmann MW, Renner SP, Stefan P. Renner
Gynecologic Oncology · 2017 · vol. 145(1) , pp. 142–147 · doi:10.1016/j.ygyno.2017.02.022 · PMID:28214017 · W2587922345
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This paper investigated genetic risk factors for ovarian cancer and their association with endometriosis risk.

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Abstract

ObjectiveSeveral genetic variants have been validated as risk factors for ovarian cancer. Endometriosis has also been described as a risk factor for ovarian cancer. Identifying genetic risk factors that are common to the two diseases might help improve our understanding of the molecular pathogenesis potentially linking the two conditions.MethodsIn a hospital-based case-control analysis, 12 single nucleotide polymorphisms (SNPs), validated by the Ovarian Cancer Association Consortium (OCAC) and the Collaborative Oncological Gene-environment Study (COGS) project, were genotyped using TaqMan® OpenArray™ analysis. The cases consisted of patients with endometriosis, and the controls were healthy individuals without endometriosis. A total of 385 cases and 484 controls were analyzed. Odds ratios and P values were obtained using simple logistic regression models, as well as from multiple logistic regression models with adjustment for clinical predictors.Resultsrs11651755 in HNF1B was found to be associated with endometriosis in this case-control study. The OR was 0.66 (95% CI, 0.51 to 0.84) and the P value after correction for multiple testing was 0.01. None of the other genotypes was associated with a risk for endometriosis.ConclusionsAs rs11651755 in HNF1B modified both the ovarian cancer risk and also the risk for endometriosis, HNF1B may be causally involved in the pathogenetic pathway leading from endometriosis to ovarian cancer.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Hepatocyte Nuclear Factor 1-beta Adenocarcinoma, Clear Cell Adenocarcinoma, Clear Cell Adult Case-Control Studies Endometriosis Female Genetic Predisposition to Disease Hepatocyte Nuclear Factor 1-beta Humans Logistic Models Middle Aged Odds Ratio Ovarian Neoplasms Ovarian Neoplasms Polymorphism, Single Nucleotide Risk Factors

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