Evidence of a genetic link between endometriosis and ovarian cancer
Abstract
OBJECTIVE: To evaluate whether endometriosis-associated genetic variation affects risk of ovarian cancer.
DESIGN: Pooled genetic analysis.
SETTING: University hospital.
PATIENT(S): Genetic data from 46,176 participants (15,361 ovarian cancer cases and 30,815 controls) from 41 ovarian cancer studies.
INTERVENTION(S): None.
MAIN OUTCOME MEASURE(S): Endometriosis-associated genetic variation and ovarian cancer.
RESULT(S): 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.
CONCLUSION(S): 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.
Bibliographical data
Original language | English |
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ISSN | 0015-0282 |
DOIs | |
Publication status | Published - 01.2016 |
Externally published | Yes |
PubMed | 26477498 |
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