Evidence of a genetic link between endometriosis and ovarian cancer

Alice W Lee; Claire Templeman; Douglas A Stram; Jonathan Beesley; Jonathan Tyrer; Andrew Berchuck; Paul P Pharoah; Georgia Chenevix-Trench; Celeste Leigh Pearce; Ovarian Cancer Association Consortium

doi:10.1016/j.fertnstert.2015.09.023

Evidence of a genetic link between endometriosis and ovarian cancer

Alice W Lee, Claire Templeman, Douglas A Stram, Jonathan Beesley, Jonathan Tyrer, Andrew Berchuck, Paul P Pharoah, Georgia Chenevix-Trench, Celeste Leigh Pearce, Ovarian Cancer Association Consortium

47 Citations (Scopus)

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.

Original language	English
Journal	Fertility and Sterility
Volume	105
Issue number	1
Pages (from-to)	35-43.e1-10
ISSN	0015-0282
DOIs	https://doi.org/10.1016/j.fertnstert.2015.09.023
Publication status	Published - Jan 2016
Externally published	Yes

Keywords

Case-Control Studies
Computational Biology
Databases, Genetic
Endometriosis
Female
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Neoplasm Grading
Ovarian Neoplasms
Phenotype
Polymorphism, Single Nucleotide
Risk Assessment
Risk Factors
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Research Support, U.S. Gov't, P.H.S.

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10.1016/j.fertnstert.2015.09.023

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title = "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.",

keywords = "Case-Control Studies, Computational Biology, Databases, Genetic, Endometriosis, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Neoplasm Grading, Ovarian Neoplasms, Phenotype, Polymorphism, Single Nucleotide, Risk Assessment, Risk Factors, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Research Support, U.S. Gov't, P.H.S.",

author = "Lee, \{Alice W\} and Claire Templeman and Stram, \{Douglas A\} and Jonathan Beesley and Jonathan Tyrer and Andrew Berchuck and Pharoah, \{Paul P\} and Georgia Chenevix-Trench and Pearce, \{Celeste Leigh\} and \{Ovarian Cancer Association Consortium\}",

note = "Copyright {\textcopyright} 2016. Published by Elsevier Inc.",

year = "2016",

month = jan,

doi = "10.1016/j.fertnstert.2015.09.023",

language = "English",

volume = "105",

pages = "35--43.e1--10",

journal = "Fertility and Sterility",

issn = "0015-0282",

publisher = "Elsevier Inc.",

number = "1",

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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

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.

KW - Case-Control Studies

KW - Computational Biology

KW - Databases, Genetic

KW - Endometriosis

KW - Female

KW - Genetic Predisposition to Disease

KW - Genome-Wide Association Study

KW - Humans

KW - Neoplasm Grading

KW - Ovarian Neoplasms

KW - Phenotype

KW - Polymorphism, Single Nucleotide

KW - Risk Assessment

KW - Risk Factors

KW - Journal Article

KW - Research Support, N.I.H., Extramural

KW - Research Support, Non-U.S. Gov't

KW - Research Support, U.S. Gov't, Non-P.H.S.

KW - Research Support, U.S. Gov't, P.H.S.

UR - https://www.scopus.com/pages/publications/84949239375

U2 - 10.1016/j.fertnstert.2015.09.023

DO - 10.1016/j.fertnstert.2015.09.023

M3 - Journal article

C2 - 26477498

SN - 0015-0282

VL - 105

SP - 35-43.e1-10

JO - Fertility and Sterility

JF - Fertility and Sterility

IS - 1

ER -

Evidence of a genetic link between endometriosis and ovarian cancer

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Keywords

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