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

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.

Endometriosis in women undergoing ovarian tissue transplantation due to premature menopause after gonadotoxic treatment or spontaneous premature ovarian failure

“… 28 The molecular mechanisms underlying these associations are still largely unexplored. 29 The increased risk of various forms of malignancy and the lower average age at diagnosis of malignancy compared with the general population suggest an underlying dysregulation of tumor growth in these women and strengthen the hypothesis of a disturbed immune system. 28 However, there are no studies to date on women with a history of cancer and subsequent endometriosis diagnosis.…”

“…Recent studies have found a link between endometriosis and certain types of malignancies, particularly ovarian cancer, breast cancer, skin melanoma and non‐Hodgkin’s lymphoma 28 . The molecular mechanisms underlying these associations are still largely unexplored 29 . The increased risk of various forms of malignancy and the lower average age at diagnosis of malignancy compared with the general population suggest an underlying dysregulation of tumor growth in these women and strengthen the hypothesis of a disturbed immune system 28 .…”

Recent Trends in Cancer Genomics and Bioinformatics Tools Development

“…Overall, the "Medical Genetics, Genomics and Bioinformatics" series collected 28 articles and reviews. This 2021 Special Issue is focused on the analysis of cancer progression [12], genetics mechanisms of cancers [13,14], and bioinformatics theory development [15].…”

“…Rueda-Martínez and colleagues [14] studied the genetic contribution to hormonerelated cancers development. The authors used genome-wide association studies (GWAS) to evaluate the genetic relationship between endometriosis and hormone-related cancers.…”

Bioinformatics Applications to Reveal Molecular Mechanisms of Gene Expression Regulation in Model Organisms

“…The guest editors are happy to announce the Special Issue topic at MDPI IJMS on medical genomics ( ) and next BGRS-2022 conference in Russia ( ). We wish that the readers find these papers to be interesting and stimulating, and we are continuing to collect papers on gene expression regulation based on novel sequencing and computational approaches [ 25 ], omics technologies, networks, and pathway analysis [ 26 ].…”