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Evaluation of the Indication of Brca1/2 Genetic Tests in Iranian Women and Acceptance Rate of Risk-Reducing Surgeries in Brca Mutation Carriers Publisher Pubmed



Vasigh M1 ; Eslami B1 ; Elahi A2 ; Kaviani A1, 3, 4 ; Shirkoohi R5 ; Majidzadeh K6 ; Nazarian N7 ; Omranipour R1, 8
Authors
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Authors Affiliations
  1. 1. Breast Disease Research Center, Cancer Institute, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Department of Surgery, Alborz University of Medical Sciences, Karaj, Iran
  3. 3. Department of Surgery, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Department of Surgical Oncology, University de Montreal, Montreal, Canada
  5. 5. Department of Molecular Genetics, Cancer Research Center, Cancer Institute, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Breast Cancer Research Center, Motamed Cancer Institute, ACECR, Tehran, Iran
  7. 7. Tehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran
  8. 8. Department of Surgical Oncology, Cancer Institute, Tehran University of Medical Sciences, Tehran, Iran

Source: Molecular Genetics and Genomic Medicine Published:2022


Abstract

Background: A higher risk for breast and ovarian cancer has been reported in BRCA carriers and prophylactic surgeries are proposed to reduce this risk. This retrospective cohort study has evaluated the indication of BRCA1/2 genetic tests in Iranian women and the rate of women's acceptance of prophylactic surgeries recommended by the surgeon. Methods: Medical records of 147 high-risk women according to NCCN clinical practice guidelines who referred for BRCA mutations testing were assessed. Individual information, indications for BRCA1/2 genetic testing and their results, physician recommendations, and type of accepted surgery were registered. To evaluate the current status of women an active visit follow-up every six months was conducted. Results: The mean age of women was 43.40 ± 10.94 and the median follow-up time was 1.92 years. Genetic test results showed 49(33.3%) women were positive for either BRCA1/2 mutations. Although the occurrence of breast cancer younger than 40 was the most common indication for genetic tests (26.5%), positive breast cancer history in first-degree relatives and two relatives younger than 50 was the most common indications with positive results. The rate of acceptance of prophylactic mastectomy and bilateral salpingo-oophorectomy was (14.3% and 34.7%) in BRCA mutation carriers. Conclusion: If the onset of breast cancer at a young age (less than 40) will be the only indication for a BRCA analysis, the rate of a positive result (12.8%) is very low. Further studies are warranted to evaluate the age limit for genetic testing in our country. Prophylactic mastectomy acceptance is very low in BRCA1/2 carriers in our centers. © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.