Ovarian Cancer Risk-Reduction and Screening in BRCA1/2 Mutation Carriers

J Womens Health (Larchmt). 2024 May;33(5):624-628. doi: 10.1089/jwh.2023.0621. Epub 2024 Mar 15.

Abstract

Objective: To determine the utilization of risk-reducing strategies and screening protocols for ovarian cancer in female BRCA1/2 carriers. Methods: This study was a sub-analysis of female participants from a larger multicenter, cross-sectional survey of BRCA1/2 mutation carriers unaffected by cancer. The questionnaire was administered electronically via email at four institutions located in the northeast United States. Data were analyzed with Fisher's exact test. Results: The survey was completed by 104 female BRCA mutation carriers. BRCA subtypes included 54.3% BRCA2, 41.0% BRCA1, and 2.9% both. The age at which patients underwent genetic testing varied 21.2% were 18-24 years, 25.0% were 25-34 years, 29.8% were 35-44 years, and 24.0% were 45 years or older. Nearly, all respondents (97.1%) reported that a provider had discussed risk-reducing surgeries. Of the 79 females who underwent genetic testing before 45 years of age, 53.2% reported that a health care provider recommended taking combined oral contraceptive pills (COCs) to reduce their risk of ovarian cancer, and, of these women, 88.1% chose to use them. COCs were offered at higher rates among women who were younger at the age of genetic testing (18-24: 86%, 25-34: 62%, 35-44: 23%; p < 0.0001). Approximately half (55.8%) of the respondents reported having been offered increased screening for possible early detection of ovarian cancer, of which 81.0% chose to undergo screening. The majority utilized a combination of transvaginal ultrasound and serum CA125 measurements. There were no differences observed in screening utilization based on BRCA mutation type. Conclusion: In our cohort of female BRCA mutation carriers, risk-reducing surgery was offered to almost all women, whereas only half were offered risk-reducing medication and/or increased screening. Further investigation is needed to identify barriers to the utilization of risk-reducing strategies among this high-risk population.

Keywords: BRCA; cancer screening; genetic counseling; ovarian cancer; risk management.

Publication types

  • Multicenter Study

MeSH terms

  • Adolescent
  • Adult
  • BRCA1 Protein / genetics
  • Cross-Sectional Studies
  • Early Detection of Cancer
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Heterozygote
  • Humans
  • Middle Aged
  • Mutation*
  • Ovarian Neoplasms* / diagnosis
  • Ovarian Neoplasms* / genetics
  • Ovarian Neoplasms* / prevention & control
  • Risk Reduction Behavior*
  • Surveys and Questionnaires
  • Young Adult

Substances

  • BRCA1 Protein