Evidence of a genetic link between endometriosis and ovarian cancer
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Evidence of a genetic link between endometriosis and ovarian cancer. / 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.
In: FERTIL STERIL, Vol. 105, No. 1, 01.2016, p. 35-43.e10.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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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 P
AU - Chenevix-Trench, Georgia
AU - Pearce, Celeste Leigh
AU - Ovarian Cancer Association Consortium
N1 - Copyright © 2016. Published by Elsevier Inc.
PY - 2016/1
Y1 - 2016/1
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.
U2 - 10.1016/j.fertnstert.2015.09.023
DO - 10.1016/j.fertnstert.2015.09.023
M3 - SCORING: Journal article
C2 - 26477498
VL - 105
SP - 35-43.e10
JO - FERTIL STERIL
JF - FERTIL STERIL
SN - 0015-0282
IS - 1
ER -