TY - JOUR
T1 - Evidence of a genetic link between endometriosis and ovarian cancer
AU - Lee, Alice W
AU - Templeman, Claire
AU - Stram, Douglas A.
AU - Beesley, Jonathan
AU - Tyrer, Jonathan
AU - Berchuck, Andrew
AU - Pharoah, Paul D P
AU - Chenevix-Trench, Georgia
AU - Pearce, Celeste Leigh
AU - Ovarian Cancer Association Consortium
AU - Giles, Graham G.
AU - Southey, Melissa C.
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
KW - Endometriosis
KW - genetic variation
KW - ovarian cancer
KW - SNPs
UR - http://www.scopus.com/inward/record.url?scp=84949239375&partnerID=8YFLogxK
U2 - 10.1016/j.fertnstert.2015.09.023
DO - 10.1016/j.fertnstert.2015.09.023
M3 - Article
C2 - 26477498
AN - SCOPUS:84949239375
VL - 105
SP - 35-43e10
JO - Fertility and Sterility
JF - Fertility and Sterility
SN - 0015-0282
IS - 1
ER -
