Title: Evidence of a genetic link between endometriosis and ovarian cancer.
Authors: Lee, Alice W; Templeman, Claire; Stram, Douglas A; Beesley, Jonathan; Tyrer, Jonathan; Berchuck, Andrew; Pharoah, Paul P; Chenevix-Trench, Georgia; Pearce, Celeste Leigh; Ovarian Cancer Association Consortium
Published In Fertil Steril, (2016 Jan)
Abstract: To evaluate whether endometriosis-associated genetic variation affects risk of ovarian cancer.Pooled genetic analysis.University hospital.Genetic data from 46,176 participants (15,361 ovarian cancer cases and 30,815 controls) from 41 ovarian cancer studies.None.Endometriosis-associated genetic variation and ovarian cancer.There was significant evidence of an association between endometriosis-related genetic variation and ovarian cancer risk, especially for the high-grade serous and clear cell histotypes. Overall we observed 15 significant burden statistics, which was three times more than expected.By focusing on candidate regions from a phenotype associated with ovarian cancer, we have shown a clear genetic link between endometriosis and ovarian cancer that warrants further follow-up. The functional significance of the identified regions and SNPs is presently uncertain, though future fine mapping and histotype-specific functional analyses may shed light on the etiologies of both gynecologic conditions.
PubMed ID: 26477498
MeSH Terms: Case-Control Studies; Computational Biology; Databases, Genetic; Endometriosis/diagnosis; Endometriosis/genetics*; Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Neoplasm Grading; Ovarian Neoplasms/diagnosis; Ovarian Neoplasms/genetics*; Phenotype; Polymorphism, Single Nucleotide*; Risk Assessment; Risk Factors