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Evidence of a genetic link between endometriosis and ovarian cancer.

Publication ,  Journal Article
Lee, AW; Templeman, C; Stram, DA; Beesley, J; Tyrer, J; Berchuck, A; Pharoah, PP; Chenevix-Trench, G; Pearce, CL ...
Published in: Fertil Steril
January 2016

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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Published In

Fertil Steril

DOI

EISSN

1556-5653

Publication Date

January 2016

Volume

105

Issue

1

Start / End Page

35-43.e1-10

Location

United States

Related Subject Headings

  • Risk Factors
  • Risk Assessment
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Ovarian Neoplasms
  • Obstetrics & Reproductive Medicine
  • Neoplasm Grading
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
 

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Lee, A. W., Templeman, C., Stram, D. A., Beesley, J., Tyrer, J., Berchuck, A., … Ovarian Cancer Association Consortium, . (2016). Evidence of a genetic link between endometriosis and ovarian cancer. Fertil Steril, 105(1), 35-43.e1-10. https://doi.org/10.1016/j.fertnstert.2015.09.023
Lee, Alice W., Claire Templeman, Douglas A. Stram, Jonathan Beesley, Jonathan Tyrer, Andrew Berchuck, Paul P. Pharoah, Georgia Chenevix-Trench, Celeste Leigh Pearce, and Celeste Leigh Ovarian Cancer Association Consortium. “Evidence of a genetic link between endometriosis and ovarian cancer.Fertil Steril 105, no. 1 (January 2016): 35-43.e1-10. https://doi.org/10.1016/j.fertnstert.2015.09.023.
Lee AW, Templeman C, Stram DA, Beesley J, Tyrer J, Berchuck A, et al. Evidence of a genetic link between endometriosis and ovarian cancer. Fertil Steril. 2016 Jan;105(1):35-43.e1-10.
Lee, Alice W., et al. “Evidence of a genetic link between endometriosis and ovarian cancer.Fertil Steril, vol. 105, no. 1, Jan. 2016, pp. 35-43.e1-10. Pubmed, doi:10.1016/j.fertnstert.2015.09.023.
Lee AW, Templeman C, Stram DA, Beesley J, Tyrer J, Berchuck A, Pharoah PP, Chenevix-Trench G, Pearce CL, Ovarian Cancer Association Consortium. Evidence of a genetic link between endometriosis and ovarian cancer. Fertil Steril. 2016 Jan;105(1):35-43.e1–10.
Journal cover image

Published In

Fertil Steril

DOI

EISSN

1556-5653

Publication Date

January 2016

Volume

105

Issue

1

Start / End Page

35-43.e1-10

Location

United States

Related Subject Headings

  • Risk Factors
  • Risk Assessment
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Ovarian Neoplasms
  • Obstetrics & Reproductive Medicine
  • Neoplasm Grading
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease