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Article

Endometriosis in Carriers of a Pathogenic Variant in BRCA1 or BRCA2: A Descriptive Analysis of a Large Multicentral BRCA Carrier Cohort

by
Aghaghia Mokhber
1,2,*,
Brynne Stewart
3,
Kathryn L. Terry
4,
Jacek Gronwald
5,
Cezary Cybulski
5,
Raymond H. Kim
6,
Beth Y. Karlan
7,
Louise Bordeleau
8,
Teresa Ramón y Cajal
9,
Tuya Pal
10,
Andrea Eisen
11,
Fergus J. Couch
12,
Dana Zakalik
13,
Nadine Tung
14,
Robert Fruscio
15,16,
William D. Foulkes
17,
Amber M. Aeilts
18,
Ping Sun
1,
Jan Lubiński
5,
Steven Narod
1,19 and
Joanne Kotsopoulos
1,19,*add Show full author list remove Hide full author list
1
Women’s College Research Institute, Women’s College Hospital, Toronto, ON M5S 1B2, Canada
2
Queen’s School of Medicine, Queen’s University, Kingston, ON K7L 3N6, Canada
3
Temerty Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A1, Canada
4
Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA 02115, USA
5
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, 70-204 Szczecin, Poland
6
Princess Margaret Cancer Centre, University Health Network, Toronto, ON M5G 2C4, Canada
7
Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
8
Department of Oncology, Juravinski Cancer Centre, McMaster University, Hamilton, ON L8S 4L8, Canada
9
Department of Medical Oncology, Hospital de la Santa Creu i Sant Pau, 08025 Barcelona, Spain
10
Vanderbilt-Ingram Cancer Center, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA
11
Department of Medical Oncology, Sunnybrook Odette Cancer Center, University of Toronto, Toronto, ON M5S 1A1, Canada
12
Division of Experimental Pathology and Laboratory Medicine, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55901, USA
13
Cancer Genetics Program, Beaumont Hospital, Royal Oak, MI 48073, USA
14
Beth Israel Deaconess Medical Center, Boston, MA 02215, USA
15
Department of Medicine and Surgery, University of Milan-Bicocca, 20126 Milan, Italy
16
UO Gynecology, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy
17
McGill Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, QC H3A 0G4, Canada
18
Division of Human Genetics, Comprehensive Cancer Center, The Ohio State University Medical Center, Columbus, OH 43202, USA
19
Dalla Lana School of Public Health, University of Toronto, Toronto, ON M5S 1A1, Canada
 
add Show full affiliation list
 
remove Hide full affiliation list
*
Authors to whom correspondence should be addressed.
Curr. Oncol. 2025, 32(12), 675; https://doi.org/10.3390/curroncol32120675 (registering DOI)
Submission received: 20 October 2025 / Revised: 22 November 2025 / Accepted: 29 November 2025 / Published: 1 December 2025
(This article belongs to the Section Gynecologic Oncology)
Versions Notes

Simple Summary

Endometriosis is a common condition that affects women during their reproductive years and is linked to chronic pain and fertility challenges. Some studies suggest that endometriosis may also increase the risk of ovarian cancer. Women who carry BRCA gene mutations already face a higher risk of ovarian cancer, but it is unclear whether they are also more likely to have endometriosis. In this large study of nearly 17,000 women with BRCA mutations, endometriosis was found to be much less common than in the general population, and it did not appear to increase ovarian cancer risk. These findings suggest that the connection between endometriosis and ovarian cancer may differ for women with BRCA mutations. Understanding these differences could help guide future research and inform personalized cancer prevention and reproductive health strategies for women at genetic risk.

Abstract

Background: Endometriosis affects an estimated 10% of reproductive-aged women and is associated with increased ovarian cancer risk. While BRCA1/2 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 BRCA mutation carriers. Methods: 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. Results: Among 16,950 BRCA carriers, the prevalence of endometriosis was 2.4%. Compared to BRCA carriers without endometriosis, those with endometriosis were more likely to carry a BRCA2 mutation, have post-secondary education, and experience earlier menarche. BRCA carriers with endometriosis had a lower ovarian cancer prevalence than those without (10% vs. 15%, p < 0.001). Conclusions: This is the first study of this scale to report the prevalence of endometriosis among BRCA 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 BRCA mutation carriers.

1. Introduction

Endometriosis is a chronic gynecological disorder characterized by the presence of endometrial-like tissue outside the uterus, affecting approximately 10% of reproductive-aged women globally [1,2]. This multifactorial condition is associated with significant morbidity, notably chronic pelvic pain, dysmenorrhea, dyspareunia, infertility, and depression [1,2,3,4,5,6,7]. The pathophysiology of endometriosis is complex with potential contributions from retrograde menstruation, immune dysregulation, hormonal imbalances, and genetic predisposition [8,9,10,11]. Endometriosis is estrogen-dependent, with estrogen driving lesion growth and progesterone resistance limiting its suppression [10,11]. This condition has been associated with increased risk of ovarian cancer, particularly the clear cell and endometrioid subtypes [12,13], with some recent evidence also suggesting a modest link with high-grade serous subtypes [14].
Although twin studies have suggested a heritable component to endometriosis, no high-penetrance susceptibility genes have been identified [15,16]. Findings from genome-wide association studies suggest a role of genetic variation in WNT4, FN1, and GREB1 genes, all of which are implicated in estrogen signaling and inflammation [1,17]. BRCA1 and BRCA2 are tumor suppressor genes that play a critical role in maintaining genomic stability, among other critical functions. Pathogenic (or likely pathogenic) BRCA variants confer the highest known lifetime risks of developing ovarian and/or fallopian tube cancer [18].
Given the association between endometriosis and ovarian cancer, it is important to understand how endometriosis presents in women at high genetic risk of ovarian cancer, including BRCA carriers. While BRCA mutations are well-established in hereditary cancer syndromes, their relationship to benign gynecologic conditions such as endometriosis is not evaluated. Moreover, other burdens of endometriosis, including chronic pain, infertility, and mental health impacts, remain underexplored in this high-risk population. This study aims to evaluate the prevalence and clinical characteristics of endometriosis in a large multicenter cohort of BRCA carriers and to provide real-world insights into how endometriosis manifests in this high-risk population.

2. Methods

2.1. Study Population

Participants were identified from a longitudinal study of women aged 18 to 70 with a confirmed pathogenic or likely pathogenic variant in the BRCA1 or BRCA2 gene (carriers hereafter) and has been previously described in detail [19]. Briefly, eligible participants had undergone genetic testing based on a personal or family history of breast and/or ovarian cancer. While various methods were used to detect mutations, all identified variants were confirmed through direct DNA sequencing. Informed written consent was obtained from all participants. The study was conducted in accordance with the ethical standards of the relevant institutional or national research committees and with the 1964 Declaration of Helsinki and its later amendments. Ethical approval was obtained from the Institutional Review Boards of all participating centers.

2.2. Data Collection

Participants complete a research questionnaire at the time enrollment (between 1995 and 2024), which was administered either in person during a clinic visit or remotely via telephone or mail. The questionnaire gathered self-reported data on established and potential risk factors for breast and ovarian cancer, including personal and family cancer history, medical and reproductive history, medication use, and select lifestyle factors. Menopausal status was also assessed, with questions addressing natural, surgical, medication-induced, or other causes of menopause. Follow-up questionnaires were distributed every two years to collect updated information on exposures, new cancer diagnoses, treatments received, and vital status. These follow-ups were conducted by mail or telephone by a research assistant.
Self-reported diagnoses of primary invasive ovarian or fallopian tube cancer, collectively referred to as ovarian cancer, were collected. The questionnaires asked specifically about a personal diagnosis of endometriosis (yes/no), including details on the data of diagnosis and treatments received. We also included cases of endometriosis identified incidentally during surgery. Date of diagnosis was based on the participant’s report where available.

2.3. Eligible Participants

All BRCA1 and BRCA2 mutation carriers who completed at least one follow-up questionnaire were eligible for inclusion. Participants were excluded if they reported a history of any malignancy other than breast or ovarian cancer (n = 2301). To limit misclassification, women who had undergone bilateral salpingo-oophorectomy (BSO) or hysterectomy prior to an endometriosis diagnosis were also excluded (n = 20). For analyses involving ovarian cancer, self-reported ovarian cancer diagnoses were included only if they occurred after the reported endometriosis diagnosis and in women without a history of prophylactic BSO. Women with missing data on endometriosis status or date of diagnosis were excluded from all analyses (n = 263). After applying these criteria, 16,950 women remained eligible: 402 with self-reported endometriosis and 16,547 without.

2.4. Statistical Analysis

Descriptive statistics were used to summarize baseline characteristics, comparing BRCA carriers with and without endometriosis. Continuous variables were presented as means and corresponding minimum and maximum values (min–max) and compared using Student’s t-test, while categorical variables were presented as counts and percentages and compared using the χ2 test. All statistical analyses were conducted using SAS On Demand for Academics (Cary, NC, USA), and statistical significance was set at p ≤ 0.05.

3. Results

Among the 16,950 BRCA carriers included in the study, 403 (2.4%) had a self-reported diagnosis of endometriosis (Table 1). The mean age at diagnosis of endometriosis was 35.2 years (min–max: 13–72). The mean follow-up time for the cohort was 5.5 years (min–max: 2–26), with a longer average follow-up among women with endometriosis (8.1 years; min–max: 2–24) compared with those without endometriosis (5.5 years; min–max: 2–26). A greater proportion of participants with endometriosis had post-secondary education compared with those without endometriosis (75% vs. 67%). Women with endometriosis reported an earlier age at menarche (mean: 12.7 vs. 13.0 years) and were more likely to be postmenopausal at the time of data collection (85% vs. 72%). Among postmenopausal women, those with endometriosis experienced menopause at a younger age (41.5 vs. 44.3 years), with surgical menopause being more common (69% vs. 55%). Parity also differed significantly, with a higher proportion of women with endometriosis never having given birth (29% vs. 20%). Women with endometriosis were more likely to have a history of oral contraceptive (75% vs. 64%) and HRT use (31% vs. 20%). Rates of hysterectomy and BSO were also higher in women with endometriosis (53% vs. 32% and 68% vs. 45%, respectively).
Participants with endometriosis were more likely to carry a BRCA2 mutation compared with those without endometriosis (34% vs. 28%, p = 0.012) (Table 2). The prevalence of ovarian cancer was lower in women with endometriosis (10% vs. 15%, p < 0.01).

4. Discussion

In this report of endometriosis in a large cohort of BRCA carriers, we observed a lower prevalence of endometriosis (2.4%) compared to that estimated from women in the general population (~10%) [1,2]. In addition, the prevalence of ovarian cancer was significantly lower in BRCA carriers with endometriosis compared to those without (10% vs. 15%). Although limited by small number of endometriosis cases and self-reported diagnosis, these findings suggest that BRCA carriers with endometriosis are not at an increased risk of ovarian cancer.
Despite the large number of BRCA carriers in our study, a very small proportion ever reported a history of endometriosis. Table 3 summarizes the small but growing body of literature that has investigated the prevalence of endometriosis among BRCA mutation carriers, with sample sizes ranging from 37 to 4926 participants [20,21,22,23,24,25,26]. Reported prevalence among BRCA carriers ranged from 1.6% to 34.2%, with some studies focusing solely on BRCA mutation carriers and others comparing carriers to non-carriers or women with other genetic mutations. Among studies that only analyzed BRCA mutation carriers, endometriosis prevalence was generally low, with rates under 5% in all cohorts [24,26]. While one study reported higher rates of endometriosis in BRCA carriers than in mutation-negative women [22], others found lower rates among carriers relative to non-carriers [20,23]. Among the case-only studies, which focused on cancer patients, prevalence rates were closer to the documented prevalence of endometriosis in the general population [1]. Rates ranged from approximately 8% to 10% across studies, with no significant differences between BRCA carriers and non-carriers [21,25,26]. Lower prevalence of endometriosis in this population may be explained by the high rates of prophylactic surgeries (BSO, Hysterectomy) among BRCA carriers [27,28,29,30], which remove the primary sites of endometriotic lesions and reduce the likelihood of a formal endometriosis diagnosis. Another potential factor is diagnostic bias due to cancer-focused medical surveillance [27], where clinical attention in BRCA carriers is directed toward malignancy risk rather than benign gynecologic conditions. As a result, endometriosis may be underdiagnosed or underreported in this population.
Despite this lower prevalence, several well-established risk factors for endometriosis, including earlier menarche [31,32,33], lower early adulthood body mass [34,35], and nulliparity [33,36], were observed in our BRCA carrier cohort. These findings suggest that BRCA mutation status does not necessarily alter traditional risk profiles for endometriosis, reinforcing that hormonal and metabolic influences continue to play a role in disease development even within this high-risk genetic population. A particularly notable finding of our study was the lower prevalence of ovarian cancer among BRCA carriers with endometriosis compared to those without (10% vs. 15%, p ≤ 0.001), a contrast to the general population, where endometriosis is associated with an increased risk of ovarian cancer [12,13,14]. Our findings are aligned with previous reports on the association between endometriosis and ovarian cancer risk among BRCA mutation carriers. Although limited by sample size, Gersekowski et al. reported a weaker association between endometriosis and ovarian cancer in BRCA mutation carriers compared to non-carriers (IRR = 0.75, 95% CI: 0.54–1.01) [25]. Similarly, none of the endometriosis patients with a BRCA mutation were found to have cancer in a study conducted by Loizzi et al. [26], while 81.8% of cancers associated with endometriosis in another study were associated with endometrioid carcinoma over other gynecological malignancies [21]. These findings may reflect differences in tumor histology [12,14,37]. Endometriosis has been most strongly linked to clear cell ovarian cancer [12], with emerging evidence suggesting a modest association with high-grade serous carcinomas (HGSC) [14]. In contrast, BRCA-driven ovarian cancers are predominantly HGSC [37]. Since endometriosis is not strongly linked to HGSC development, its impact on cancer risk may be less pronounced in BRCA carriers. It is also possible that, in BRCA-associated ovarian cancer, endometriosis may represent an incidental rather than causative finding, consistent with emerging histologic distinctions between endometriosis-correlated and endometriosis-incidental ovarian cancer [38]. Additionally, the low prevalence of ovarian cancer among BRCA carriers with endometriosis could be influenced by early risk-reducing surgeries [27,28,29,30], including bilateral oophorectomy which would dramatically reduce ovarian cancer risk. Socioeconomic and healthcare access factors may have also influenced the findings. Women with endometriosis in our BRCA cohort were more likely to have post-secondary education, a factor associated with improved access to specialist care and greater engagement in preventive health services [39,40,41]. This may have contributed to earlier diagnosis, timely surgical management, and lower observed rates of ovarian cancer in this group.
This descriptive analysis offers a real-world perspective on the relationship between germline BRCA mutations and endometriosis, leveraging a large, multicenter, longitudinal cohort. In contrast to previous studies, which were limited by small sample sizes, single-center recruitment, and short follow-up durations, the scale and design of this dataset allowed for a more robust evaluation of endometriosis prevalence and associated risk factors in BRCA carriers. Our study included both BRCA1 and BRCA2 mutation carriers, allowing for mutation-specific comparisons that remain underexplored in the existing literature. To our knowledge, this is the first study to systematically characterize reproductive, hormonal, and surgical factors associated with endometriosis within a large cohort of BRCA mutation carriers, enhancing the generalizability and clinical relevance of our finding.
This study had several limitations, notably that self-reported diagnoses may have led to underreporting or misclassification of endometriosis. Women with undiagnosed or asymptomatic disease may have been included in the comparison group, potentially underestimating differences in ovarian cancer prevalence. Although we did not report on the specific histology of the ovarian cancers, it has been well documented that BRCA mutations are associated with the development of serous and endometrioid subtypes [37]. In addition, ethnicity information was not available for this cohort, which is important to acknowledge as endometriosis prevalence varies by race and ethnicity [40]. Given the relatively small number of endometriosis cases and ovarian cancer events, the study was not powered to perform multivariable or time-to-event analyses. A descriptive approach was therefore adopted to characterize patterns and generate hypotheses. Future studies with larger samples, clinically confirmed diagnoses, and tumor histology data are needed to better understand the relationship between endometriosis and cancer risk in BRCA mutation carriers.
Overall, our findings suggest that BRCA mutations are likely not strongly associated with endometriosis and that endometriosis is unlikely to be a significant risk factor for BRCA-ovarian cancer. While traditional risk factors for endometriosis were still present, the influence of early surgical interventions and surveillance practices may help explain these patterns. To our knowledge, this is the first study to describe endometriosis prevalence and associated risk factors within a large cohort of BRCA mutation carriers. Future studies should prioritize prospective research to clarify these interactions and their clinical implications, particularly how endometriosis may affect ovarian cancer surveillance and reproductive health in women with a BRCA mutation.

Author Contributions

Conceptualization, A.M. and J.K.; Data curation, B.S., J.G., C.C., R.H.K., B.Y.K., L.B., T.R.y.C., T.P., A.E., F.J.C., D.Z., N.T., R.F., W.D.F., P.S. and J.L.; Investigation, A.M., B.S.; Methodology, A.M., K.L.T. and J.K.; Resources, J.G., C.C., R.H.K., B.Y.K., L.B., T.R.y.C., T.P., A.E., F.J.C., D.Z., N.T., R.F., W.D.F., A.M.A., P.S. and J.L.; Supervision, S.N. and J.K.; Writing—original draft, A.M. and J.K.; Writing—review and editing, A.M., K.L.T., B.Y.K., S.N. and J.K. All authors have read and agreed to the published version of the manuscript.

Funding

J.K. holds a Tier II Canada Research Chair (950231438), and Steven A. Narod holds a Tier I Canada Research Chair (453704). Funding for this research was provided by the Champions of Genetics Grant from the Canadian Gene Cure Foundation, in collaboration with the CIHR Institute of Genetics and the Canadian Cancer Society Research Institute (703058), and by the Peter Gilgan Centre for Women’s Cancers at Women’s College Hospital in partnership with the Canadian Cancer Society. The funding organizations were not involved in the study design, data collection and analysis, publication decisions, or manuscript preparation.

Institutional Review Board Statement

The study was approved by the institutional ethics review boards of Women’s College Hospital (Protocol Number (REB #): 2007-0036-B; Date of Approval: 29 February 2024) and all study subjects provided written informed consent. The study was performed in accordance with the Declaration of Helsinki.

Informed Consent Statement

Informed consent was obtained from all participants involved in the study.

Data Availability Statement

The data presented in this study are available on reasonable request from the corresponding author. The data are not publicly available due to institutional privacy policies.

Acknowledgments

We sincerely thank all the women who participated in this study, as their contributions were essential to our research. We also acknowledge the study staff, students, and volunteers for their assistance with data collection and data entry. We extend our gratitude to Shana Kim, for her valuable input and support throughout this project. We would like to thank the Hereditary Breast Cancer Clinical Study Group. (Other members of the Hereditary Breast Cancer Clinical Study Group: Kevin Sweet, Christine Elser, Seema Panchal, Georgia Wiesner, Susan Armel, Linda Steele, Howard Saal, Kim Serfas, Carey A. Cullinane, Robert E. Reilly, Daniel Rayson, Leanne Mercer, Jeffrey Dungan, Stephanie Cohen, Susan Neuhausen, Sophie Sun, Leigha Senter, Joanne L. Blum, Klaudia Stempa, Tracy Graham, Marta Seca, Martina Delle Marchette, Serena Negri, Adriana I. Apostol, Pal Moller, Intan Schrader, Christian F. Singer, Kelly Metcalfe, Olufunmilayo Olo-pade, Cristina Dell’Oro, Alessandra Inzoli, Rosa Alfonso, Consol Lopez and Francesco Cusco).

Conflicts of Interest

The authors declare no conflicts of interest relevant to this manuscript.

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Table 1. Descriptive characteristics of BRCA mutation carriers overall and by endometriosis diagnosis.
Table 1. Descriptive characteristics of BRCA mutation carriers overall and by endometriosis diagnosis.
CharacteristicTotal
(n = 16,950)		No Endometriosis
(n = 16,547)		Endometriosis a
(n = 403)		p b
Year of birth, mean (min–max)1961 (1903–2004)1961 (1903–2004)1962 (1921–1994)0.40
Age at diagnosis, mean (min–max)35.2 (13–72)N/A35.2 (13–72)N/A
Follow-up time in years, mean (min–max)5.5 (2–26)5.5 (2–26)8.1 (2–24)<0.01
Country of residence, n (%)
USA5278 (31)5147 (31)131 (33)<0.01
Canada3743 (22)3609 (22)134 (33)
Poland5065 (30)4944 (30)121 (30)
Other2847 (17)2830 (17)17 (4)
Education level, n (%)
Primary2548 (33)2481 (33)67 (25)<0.01
Post-secondary5238 (67)5033 (67)205 (75)
Body Mass Index (BMI) at 18, mean (min–max)20.9 (10–59)20.9 (10–59)20.7 (13–37)0.32
Age at menarche, mean (min–max)13.0 (8–30)13.0 (8–30)12.7 (9–17)<0.01
Menopause status, n (%)
Premenopuase4651 (28)4592 (28)59 (15)<0.01
Postmenopause12,255 (72)11,912 (72)343 (85)
Menopause age, mean (min–max)44.17 (12–73)44.3 (12–73)41.5 (23–58)<0.01
Menopause cause, n (%)
Natural2906 (27)2860 (24)46 (13)<0.01
Surgical6796 (64)6558 (55)238 (69)
Medical975 (9)944 (8)31 (9)
Parity, n (%)
Never3433 (20)3318 (20)115 (29)<0.01
Ever13,517 (80)13,229 (80)288 (71)
Oral contraceptive, n (%)
Never6096 (36)5995 (36)101 (25)<0.01
Ever10,854 (64)10,552 (64)302 (75)
Postmenopausal HRT c, n (%)
Never9722 (79)9487 (80)235 (69)<0.01
Ever2533 (21)2425 (20)108 (31)
Tubal ligation d, n (%)
Never12,984 (88)12,637 (88)347 (87)0.85
Ever1822 (12)1772 (12)50 (13)
Hysterectomy, n (%)
Never11,477 (68)11,288 (68)189 (47)<0.01
Ever5473 (32)5259 (32)214 (53)
BSO, n (%)
Never7794 (46)7579 (46)115 (28)<0.01
Ever9201 (54)8906 (53)295 (72)
a Women with BSO, hysterectomy and/or ovarian cancer diagnosis before endometriosis diagnosis were excluded. b The distributions of continuous and categorical variables were compared using the student’s t-test and χ2 test, respectively. c HRT use reflects ever use of hormone replacement therapy after surgical or natural menopause. d Differences between the total cohort size and the sums within individual variables are due to missing responses for specific questionnaire items. N/A= not applicable.
Table 2. Distribution of BRCA mutation type and ovarian cancer among carriers with and without endometriosis.
Table 2. Distribution of BRCA mutation type and ovarian cancer among carriers with and without endometriosis.
Characteristic No Endometriosis
(n = 16,547)		Endometriosis a
(n = 403)		p b
Mutation type, n (%) 0.012
Total16,950
BRCA112,169 (72)11,902 (72)267 (66)
BRCA24781 (28)4645 (28)136 (34)
Ovarian cancer c, n (%) <0.0001
Total7794
Never6662 (85)6559 (85)103 (90)
Ever1132 (15)1120 (15)12 (10)
a Women with BSO, hysterectomy and/or ovarian cancer diagnosis before endometriosis diagnosis were excluded. b The distributions of variables were compared using the χ2 test. c Ovarian cancer reported only in patients with no history of prophylactic BSO.
Table 3. Summary of studies investigating the prevalence of endometriosis among BRCA mutation carriers.
Table 3. Summary of studies investigating the prevalence of endometriosis among BRCA mutation carriers.
StudyCountryPopulationStudy DesignResults
Stratton et al., 1999 [20] UK37 women
(BRCA: n = 11;
Non-carriers: n = 26)		CohortEndometriosis prevalence was 9.1% (1/11) among BRCA mutation carriers and 15.3% (4/26) among non-carriers.
Casey et al., 2013 [21]USA174 women with invasive gynecological cancers
(BRCA: n = 95; MMR: n = 79)		Case-onlyEndometriosis prevalence was 9.1% (1/11) among BRCA mutation carriers and 8.9% (7/79) among women with MMR gene mutations.
Of the endometriosis cases identified, 81.8% (9/11) were associated with endometrioid carcinomas.
Seidman and Krishnan,
2016 [22]		USA403 women
(BRCA: n = 38; High-risk without mutation: n = 79; low-risk without mutation: n = 286)		CohortEndometriosis prevalence was 34.2% (13/38) among BRCA mutation carriers, 30.4% (24/79) in high-risk individuals without a mutation, and 18% (51/286) in non-high-risk individuals.
The overall prevalence of endometriosis was 22% (88/403).
Thompson et al., 2018 [23]IRL130 women
(BRCA: n = 46,
Non-Carriers: n = 19, Untested: n = 65)		CohortEndometriosis prevalence was 2.2% (1/46) among BRCA mutation carriers and 7.1% (6/84) in non-carriers or untested individuals.
Grandi et al., 2020 [24]ITA116 women with BRCA mutations
(Previous RRSO: n = 25; Actual RRSO: n = 29; No RRSO: n = 62)		CohortThe overall prevalence of endometriosis was 4.3% (5/116).
Gersekowski et al., 2024 [25]AUS4926 women with ovarian cancer (BRCA: n = 637;
Non-carriers n = 4289)
* Data on endometriosis was missing for 1648 women		Pooled
Case-only		Endometriosis prevalence was 8.6% (41/476) among BRCA mutation carriers and 10.2% (285/2802) among non-carriers
The overall prevalence of endometriosis was 9.9% (326/3278)
The positive association between endometriosis and ovarian cancer risk was weaker for BRCA carriers compared to non-carriers (IRR = 0.75, 95% CI: 0.54–1.01)
Loizzi et al., 2024 [26]ITA184 women with BRCA mutations (Personal history of cancer: n = 14)CohortEndometriosis was reported in 1.6% (3/184) of patients, all of whom had no personal or family history of cancer.
* NS = Not statistically significant, numerical data not reported; N/A = Not available; RRSO = risk-reducing salpingo-oophorectomy; OR = Odds ratio; IRR = interaction risk ratio; CI = confidence interval.
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Mokhber, A.; Stewart, B.; Terry, K.L.; Gronwald, J.; Cybulski, C.; Kim, R.H.; Karlan, B.Y.; Bordeleau, L.; Ramón y Cajal, T.; Pal, T.; et al. Endometriosis in Carriers of a Pathogenic Variant in BRCA1 or BRCA2: A Descriptive Analysis of a Large Multicentral BRCA Carrier Cohort. Curr. Oncol. 2025, 32, 675. https://doi.org/10.3390/curroncol32120675

AMA Style

Mokhber A, Stewart B, Terry KL, Gronwald J, Cybulski C, Kim RH, Karlan BY, Bordeleau L, Ramón y Cajal T, Pal T, et al. Endometriosis in Carriers of a Pathogenic Variant in BRCA1 or BRCA2: A Descriptive Analysis of a Large Multicentral BRCA Carrier Cohort. Current Oncology. 2025; 32(12):675. https://doi.org/10.3390/curroncol32120675

Chicago/Turabian Style

Mokhber, Aghaghia, Brynne Stewart, Kathryn L. Terry, Jacek Gronwald, Cezary Cybulski, Raymond H. Kim, Beth Y. Karlan, Louise Bordeleau, Teresa Ramón y Cajal, Tuya Pal, and et al. 2025. "Endometriosis in Carriers of a Pathogenic Variant in BRCA1 or BRCA2: A Descriptive Analysis of a Large Multicentral BRCA Carrier Cohort" Current Oncology 32, no. 12: 675. https://doi.org/10.3390/curroncol32120675

APA Style

Mokhber, A., Stewart, B., Terry, K. L., Gronwald, J., Cybulski, C., Kim, R. H., Karlan, B. Y., Bordeleau, L., Ramón y Cajal, T., Pal, T., Eisen, A., Couch, F. J., Zakalik, D., Tung, N., Fruscio, R., Foulkes, W. D., Aeilts, A. M., Sun, P., Lubiński, J., ... Kotsopoulos, J. (2025). Endometriosis in Carriers of a Pathogenic Variant in BRCA1 or BRCA2: A Descriptive Analysis of a Large Multicentral BRCA Carrier Cohort. Current Oncology, 32(12), 675. https://doi.org/10.3390/curroncol32120675

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