ArticleJournal of the National Cancer Institute2021
Endometrial Cancer Risk in Women With Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.
Article in Journal of the National Cancer Institute, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 3 of them syntheses that pooled it.
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52 citing papers in PubMed, 3 syntheses or guidelines pooled it, 90 citations in OpenAlex.
- [Hereditary genetic testing and its application in the diagnosis, treatment, and prevention of breast cancer].Magyar onkologia · 2025Guideline
- Pathogenesis of peritoneal high-grade serous carcinoma after risk-reducing surgery: a systematic review.The journal of pathology. Clinical research · 2025Pooled it
- BRCA 1/2 mutations and risk of uterine cancer: a systematic review and meta-analysis.BMC genomic data · 2024Pooled it
- Uterine serous carcinoma and germline genetic testing: patterns of referral, completion and pathogenic variant detection.Journal of medical genetics · 2026Article
- Examining the connection between BRCA1/2 mutations and uterine cancer: a comprehensive review.Annals of medicine and surgery (2012) · 2026Review
- A rare case of uterine carcinosarcoma in a 21-year-old woman with hereditary breast and ovarian cancer syndrome: A case report.Oncology letters · 2026Article
- BRCA1 and BRCA2 carriers: Perceptions of endometrial cancer risk.Gynecologic oncology · 2026Article
- Prevalence of germline 113 cancer genes in healthy Indonesian hospital staff.Genes & genomics · 2026Article
- Association between germline BRCA1 pathogenic variants and uterine serous carcinoma among women with breast cancer: a population-based analysis.American journal of obstetrics and gynecology · 2026Article
- Managing healthcare for female BRCA carriers in the population screening era: developing a harmonized national policy for surveillance and risk-reduction.Israel journal of health policy research · 2026Article
- Hereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.International journal of molecular sciences · 2026Review
- An intriguing journey into the hereditary syndromes predisposing to endometrial cancer: more than believed.Therapeutic advances in medical oncology · 2026Review
- Potential role of Fanconi anemia pathway in the pathogenesis of endometrial cancer (Review).Molecular medicine reports · 2025Review
- Endometrial Carcinoma and Associated Secondary Neoplasia: The Role of Clinical Features, Pathology, and Comorbidities in a University-Affiliated Clinical Center from Western Romania.Medicina (Kaunas, Lithuania) · 2025Article
- Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.Cancer medicine · 2025Observational
- Pathogenic germline variants among women with uterine cancer by ancestry: A commercial laboratory collaborative research registry study.Gynecologic oncology · 2025Article
- Occurrence of Malignancies Other than Breast and Ovarian Cancer in Female Carriers of aCancers · 2025Article
- Endometrial thickness among BRCA mutation carriers undergoing prophylactic oophorectomy.Familial cancer · 2025Article
- Real-World Molecular Testing Rates and Patterns in Patients With Primary Advanced or Recurrent Endometrial Cancer in the United States.JCO precision oncology · 2025Article
- Identification and validation of the important role of KIF11 in the development and progression of endometrial cancer.Journal of translational medicine · 2025Article
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19 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEndometrial cancer (EC) risk in BReast CAncer gene 1/2 (BRCA1/2) mutation carriers is uncertain; therefore, we assessed this in a large Dutch nationwide cohort study.
methodsWe selected 5980 BRCA1/2 (3788 BRCA1, 2151 gBRCA2, 41 both BRCA1/BRCA2) and 8451 non-BRCA1/2 mutation carriers from the Hereditary Breast and Ovarian cancer study, the Netherlands cohort. Follow-up started at the date of the nationwide Dutch Pathology Registry coverage (January 1, 1989) or at the age of 25 years (whichever came last) and ended at date of EC diagnosis, last follow-up, or death (whichever came first). EC risk in BRCA1/2 mutation carriers was compared with 1) the general population, estimating standardized incidence ratios (SIRs) based on Dutch population-based incidence rates; and 2) non-BRCA1/2 mutation carriers, using Cox-regression analyses, expressed as hazard ratio (HR). Statistical tests were 2-sided.
resultsFifty-eight BRCA1/2 and 33 non-BRCA1/2 mutation carriers developed EC over 119 296 and 160 841 person-years, respectively (SIR = 2.83, 95% confidence interval [CI] = 2.18 to 3.65; and HR = 2.37, 95% CI = 1.53 to 3.69, respectively). gBRCA1 mutation carriers showed increased risks for EC overall (SIR = 3.51, 95% CI = 2.61 to 4.72; HR = 2.91, 95% CI = 1.83 to 4.66), serous-like EC (SIR = 12.64, 95% CI = 7.62 to 20.96; HR = 10.48, 95% CI = 2.95 to 37.20), endometrioid EC (SIR = 2.63, 95% CI = 1.80 to 3.83; HR = 2.01, 95% CI = 1.18 to 3.45), and TP53-mutated EC (HR = 15.71, 95% CI = 4.62 to 53.40). For BRCA2 mutation carriers, overall (SIR = 1.70, 95% CI = 1.01 to 2.87) and serous-like EC risks (SIR = 5.11, 95% CI = 1.92 to 13.63) were increased compared with the general population. Absolute risks by 75 years remained low (overall EC = 3.0%; serous-like EC = 1.1%).
conclusionsBRCA1/2 mutation carriers have a two- to threefold increased risk for EC, with highest risk observed for the rare subgroups of serous-like and p53-abnormal EC in BRCA1 mutation carriers.
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