Evaluation of the indication of BRCA1/2 genetic tests in Iranian women and acceptance rate of risk-reducing surgeries in BRCA mutation carriers.
BRCA1
BRCA2
breast cancer
genes
prophylactic surgical procedures
Journal
Molecular genetics & genomic medicine
ISSN: 2324-9269
Titre abrégé: Mol Genet Genomic Med
Pays: United States
ID NLM: 101603758
Informations de publication
Date de publication:
02 2022
02 2022
Historique:
revised:
02
10
2021
received:
26
09
2020
accepted:
14
12
2021
pubmed:
14
1
2022
medline:
30
4
2022
entrez:
13
1
2022
Statut:
ppublish
Résumé
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. 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. 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. 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.
Sections du résumé
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.
Identifiants
pubmed: 35023322
doi: 10.1002/mgg3.1867
pmc: PMC8830810
doi:
Substances chimiques
BRCA1 Protein
0
BRCA1 protein, human
0
BRCA2 Protein
0
BRCA2 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e1867Informations de copyright
© 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.
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