The impact of BRCA gene mutation screening in individuals with indications for genetic testing: A descriptive study at Nan hospital
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Abstract
BACKGROUND: Breast cancer incidence has been increasing annually and remains a leading cause of premature mortality. Inherited mutations in the BRCA1 and BRCA2 genes are among the key genetic causes. Genetic screening can help identify individuals at high risk, enabling early monitoring and potential risk reduction. In Thailand, the Ministry of Public Health and the National Health Security Office have supported BRCA testing for high-risk patients and their direct relatives, aiming to enhance surveillance and reduce breast cancer incidence.
OBJECTIVE: To study the effect of BRCA gene mutation screening in individuals with indications for genetic testing.
METHODS: This study was a descriptive study conducted on a group of 125 individuals with indications for genetic testing of BRCA1 and BRCA2 mutations who received treatment at Nan Hospital. The participants underwent laboratory testing through genetic sequencing using next-generation sequencing (NGS) from August 2024 to January 2025. Data were analyzed for frequency, percentage, and mean values.
RESULTS: A total of 125 individuals with indications for genetic testing were included in the study, comprising 122 females and 3 males. The average age was 51.88±11.76 years. Of these, 116 cases were breast cancer patients and 9 cases were first-degree relatives. Among the breast cancer group, two declined BRCA testing, while 114 (98.28%) underwent mutation screening. Results showed no mutation in 90 cases (78.95%), variants of uncertain significance in 16 cases (14.04%), and pathogenic mutations in 8 cases (7.02%), equally distributed between BRCA1 (n=4) and BRCA2 (n=4). Among the relatives, 6 underwent testing, with two carriers of BRCA1 mutations were subsequently diagnosed with breast cancer
CONCLUSIONS AND RECOMMENDATIONS: Genetic screening is valuable for detecting abnormalities even in the absence of symptoms. Therefore, studying genetic counseling and exploring the factors influencing the decision to undergo or decline testing, both in patients and their direct relatives, is essential.
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