Endometriosis in Carriers of a Pathogenic Variant in BRCA1 or BRCA2: A Descriptive Analysis of a Large Multicentral BRCA Carrier Cohort
<b>Background:</b> Endometriosis affects an estimated 10% of reproductive-aged women and is associated with increased ovarian cancer risk. While <i>BRCA1/2</i> mutations are established risk factors for ovarian cancer, their association with endometriosis remains unclear. This study aimed to characterize the prevalence and clinical features of endometriosis within a large cohort of <i>BRCA</i> mutation carriers. <b>Methods:</b> A descriptive analysis was conducted using data from a multi-center longitudinal cohort of women with pathogenic BRCA variants. Reproductive history and related factors were collected through self-reported questionnaires and compared. <b>Results:</b> Among 16,950 <i>BRCA</i> carriers, the prevalence of endometriosis was 2.4%. Compared to <i>BRCA</i> carriers without endometriosis, those with endometriosis were more likely to carry a <i>BRCA2</i> mutation, have post-secondary education, and experience earlier menarche. <i>BRCA</i> carriers with endometriosis had a lower ovarian cancer prevalence than those without (10% vs. 15%, <i>p</i> < 0.001). <b>Conclusions:</b> This is the first study of this scale to report the prevalence of endometriosis among <i>BRCA</i> mutation carriers, which was lower than previously reported in the general population. The association between endometriosis and ovarian cancer does not appear to be generalizable to this population. Further prospective studies are warranted to clarify this association among <i>BRCA</i> mutation carriers.
Authors
- Aghaghia Mokhber (ORCID: https://orcid.org/0000-0002-0761-967X)
- Teresa Ramón y Cajal (ORCID: https://orcid.org/0000-0003-3490-3585)
- Jan Lubiński (ORCID: https://orcid.org/0000-0003-2931-3003)
- William D. Foulkes (ORCID: https://orcid.org/0000-0001-7427-4651)
- Louise Bordeleau (ORCID: https://orcid.org/0000-0003-2111-0228)
- Ping Sun
- Tuya Pal (ORCID: https://orcid.org/0000-0001-8009-2475)
- Kathryn L. Terry (ORCID: https://orcid.org/0009-0002-5848-4661)
- Amber M. Aeilts (ORCID: https://orcid.org/0000-0001-8907-7853)
- Dana Zakalik (ORCID: https://orcid.org/0000-0002-6212-7942)
- Raymond H. Kim (ORCID: https://orcid.org/0000-0002-2147-8674)
- Nadine Tung
- Robert Fruscio (ORCID: https://orcid.org/0000-0001-5688-2194)
- Andrea Eisen (ORCID: https://orcid.org/0000-0001-8037-9556)
- Bethany Stewart (ORCID: https://orcid.org/0009-0000-8007-930X)
- Beth Y. Karlan (ORCID: https://orcid.org/0000-0002-9451-2933)
- Cezary Cybulski (ORCID: https://orcid.org/0000-0002-2819-3057)
- Joanne Kotsopoulos (ORCID: https://orcid.org/0000-0001-9624-4218)
- Steven A. Narod (ORCID: https://orcid.org/0000-0001-5798-0626)
- Jacek Gronwald (ORCID: https://orcid.org/0000-0002-3643-2871)
- Fergus J. Couch
Institutions
- Beth Israel Deaconess Medical Center (US)
- Sunnybrook Health Science Centre (CA)
- University Health Network (CA)
- Mayo Clinic (US)
- Harvard University (US)
- University of California, Los Angeles (US)
- University of Toronto (CA)
- Queen's University (CA)
- Juravinski Cancer Centre (CA)
- McGill University Health Centre (CA)
- Hospital de Sant Pau (ES)
- Women's College Hospital (CA)
- Princess Margaret Cancer Centre (CA)
- Azienda Ospedaliera San Gerardo (IT)
- Mayo Clinic in Arizona (US)
- Public Health Ontario (CA)
- Beaumont Hospital, Royal Oak (US)
- Beaumont Hospital (US)
- Cancer Genetics (United States) (US)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- International Hereditary Cancer Center (PL)
- McGill University (CA)
- The Ohio State University (US)
- University of Milano-Bicocca (IT)
- Pomeranian Medical University (PL)
- Vanderbilt University Medical Center (US)
- McMaster University (CA)
Publication Details
- Journal
- Current Oncology
- Published
- 2025-12-01
- DOI
- https://doi.org/10.3390/curroncol32120675
- Primary Topic
- Endometriosis Research and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00