Genetic Contribution of Endometriosis to the Risk of Developing Hormone-Related Cancers

Aintzane Rueda-Martínez, Aiara Garitazelaia, Ariadna Cilleros-Portet, Ariadna Cilleros‐Portet, Sergi Marí, Rebeca Arauzo, Jokin de Miguel, Bárbara P. González‐García, Nora Fernández‐Jiménez, José Ramón Bilbao, Iraia García‐Santisteban
International journal of molecular sciences · 2021 · vol. 22(11) , pp. 6083 · doi:10.3390/ijms22116083 · PMID:34199930 · PMC8200110 · W3168730875
article OA: gold CC0 ⤵ 5 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This study used Mendelian randomization to find a causal genetic link between endometriosis and ovarian cancer, especially clear cell and endometrioid subtypes, and confirmed a genetic link with endometrial cancer.

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Abstract

Endometriosis is a common gynecological disorder that has been associated with endometrial, breast and epithelial ovarian cancers in epidemiological studies. Since complex diseases are a result of multiple environmental and genetic factors, we hypothesized that the biological mechanism underlying their comorbidity might be explained, at least in part, by shared genetics. To assess their potential genetic relationship, we performed a two-sample mendelian randomization (2SMR) analysis on results from public genome-wide association studies (GWAS). This analysis confirmed previously reported genetic pleiotropy between endometriosis and endometrial cancer. We present robust evidence supporting a causal genetic association between endometriosis and ovarian cancer, particularly with the clear cell and endometrioid subtypes. Our study also identified genetic variants that could explain those associations, opening the door to further functional experiments. Overall, this work demonstrates the value of genomic analyses to support epidemiological data, and to identify targets of relevance in multiple disorders.

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Condition tags

endometriosis

MeSH descriptors

Endometrial Neoplasms Endometriosis Endometrium Genetic Predisposition to Disease Neoplasms, Hormone-Dependent Ovarian Neoplasms Polymorphism, Single Nucleotide Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometriosis Endometriosis Endometriosis Endometrium Female Genome-Wide Association Study Humans Neoplasms, Hormone-Dependent Neoplasms, Hormone-Dependent Neoplasms, Hormone-Dependent

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