Evidence of a genetic link between endometriosis and ovarian cancer

Ovarian Cancer Association Consortium, Australian Cancer Study (Ovarian Cancer), Australian Ovarian Cancer Study Group

Research output: Contribution to journalArticle

14 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 languageEnglish (US)
Pages (from-to)35-43e10
JournalFertility and Sterility
Volume105
Issue number1
DOIs
StatePublished - 2016

Fingerprint

Endometriosis
Ovarian Neoplasms
Single Nucleotide Polymorphism
Outcome Assessment (Health Care)
Phenotype

Keywords

  • Endometriosis
  • genetic variation
  • ovarian cancer
  • SNPs

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Reproductive Medicine

Cite this

Ovarian Cancer Association Consortium, Australian Cancer Study (Ovarian Cancer), & Australian Ovarian Cancer Study Group (2016). Evidence of a genetic link between endometriosis and ovarian cancer. Fertility and Sterility, 105(1), 35-43e10. https://doi.org/10.1016/j.fertnstert.2015.09.023

Evidence of a genetic link between endometriosis and ovarian cancer. / Ovarian Cancer Association Consortium; Australian Cancer Study (Ovarian Cancer); Australian Ovarian Cancer Study Group.

In: Fertility and Sterility, Vol. 105, No. 1, 2016, p. 35-43e10.

Research output: Contribution to journalArticle

Ovarian Cancer Association Consortium, Australian Cancer Study (Ovarian Cancer) & Australian Ovarian Cancer Study Group 2016, 'Evidence of a genetic link between endometriosis and ovarian cancer', Fertility and Sterility, vol. 105, no. 1, pp. 35-43e10. https://doi.org/10.1016/j.fertnstert.2015.09.023
Ovarian Cancer Association Consortium, Australian Cancer Study (Ovarian Cancer), Australian Ovarian Cancer Study Group. Evidence of a genetic link between endometriosis and ovarian cancer. Fertility and Sterility. 2016;105(1):35-43e10. https://doi.org/10.1016/j.fertnstert.2015.09.023
Ovarian Cancer Association Consortium ; Australian Cancer Study (Ovarian Cancer) ; Australian Ovarian Cancer Study Group. / Evidence of a genetic link between endometriosis and ovarian cancer. In: Fertility and Sterility. 2016 ; Vol. 105, No. 1. pp. 35-43e10.
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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.",
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AU - Ovarian Cancer Association Consortium

AU - Australian Cancer Study (Ovarian Cancer)

AU - Australian Ovarian Cancer Study Group

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 - Ness, Roberta B.

AU - Dansonka-Mieszkowska, Agnieszka

AU - Gentry-Maharaj, Aleksandra

AU - Hein, Alexander

AU - Whittemore, Alice S.

AU - Jensen, Allan

AU - Du Bois, Andreas

AU - Brooks-Wilson, Angela

AU - Rudolph, Anja

AU - Jakubowska, Anna

AU - Wu, Anna H.

AU - Ziogas, Argyrios

AU - Ekici, Arif B.

AU - Leminen, Arto

AU - Rosen, Barry

AU - Spiewankiewicz, Beata

AU - Karlan, Beth Y.

AU - Trabert, Britton

AU - Fridley, Brooke L.

AU - Gilks, C. Blake

AU - Krakstad, Camilla

AU - Phelan, Catherine M.

AU - Cybulski, Cezary

AU - Walsh, Christine

AU - Hogdall, Claus

AU - Cramer, Daniel W.

AU - Huntsman, David G.

AU - Eccles, Diana

AU - Lambrechts, Diether

AU - Liang, Dong

AU - Levine, Douglas A.

AU - Iversen, Edwin S.

AU - Bandera, Elisa V.

AU - Poole, Elizabeth M.

AU - Goode, Ellen L.

AU - Van Nieuwenhuysen, Els

AU - Hogdall, Estrid

AU - Bruinsma, Fiona

AU - Heitz, Florian

AU - Modugno, Francesmary

AU - Pejovic, Tanja

PY - 2016

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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.

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KW - genetic variation

KW - ovarian cancer

KW - SNPs

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