Abstract
(1) Background: Individuals with BRCA1/2 gene mutations are at increased risk of breast and ovarian cancer. The prevalence of BRCA1/2 mutations varies by race and ethnicity, and the prevalence and the risks associated with most BRCA1/2 mutations has not been unknown in the Vietnamese population. We herein screen the entire BRCA1 and BRCA2 genes for breast and ovarian cancer patients with a family history of breast cancer and ovarian cancer, thereby, suggesting a risk score associated with carrier status and history for aiding personalized treatment; (2) Methods: Between December 2017 and December 2019, Vietnamese patients who had a pathological diagnosis of breast and epithelial ovarian cancer were followed up, prospectively, after treatment from two large institutions in Vietnam. Blood samples from 33 Vietnamese patients with hereditary breast and ovarian cancers (HBOC) syndrome were collected and analyzed using Next Generation Sequencing; (3) Results: Eleven types of mutations in both BRCA1 (in nine patients) and BRCA2 (in three patients) were detected, two of which (BRCA1:p.Tyr1666Ter and BRCA2:p.Ser1341Ter) have not been previously documented in the literature. Seven out of 19 patient’s relatives had BRCA1/2 gene mutations. All selected patients were counselled about the likelihood of cancer rising and prophylactic screening and procedures. The study established a risk score associated with the cohorts based on carrier status and family history; (4) Conclusions: Our findings suggested the implications for the planning of a screening programme for BRCA1 and BRCA2 genes testing in breast and ovarian cancer patients and genetic screening in their relatives. BRCA1/2 mutation carriers without cancer should have early and regular cancer screening, and prophylactic measures. This study could be beneficial for a diverse group in a large population-specific cohort, related to HBOC Syndrome.
Highlights
BRCA1 and BRCA2 inherited gene mutations, which greatly increase the risk of developing breast and ovarian cancers, are mutations that are frequently observed in hereditary breast and ovarian cancers (HBOC)
We developed a risk score that took into account the risk of the patients with BRCA1/2 mutation and non-mutation and family history based on BOADICEA from the University of Cambridge (UK), contributing to further determine the HBOC risk in the future
Even though the incident rates were estimated based on a UK population, it can be gradually changed in the context of further updated studies in a. This was the first study in Vietnam to investigate mutations of BRCA1 and BRCA2 genes in breast and ovarian cancer patients with the criteria of HBOC syndrome, and to develop a risk score associated with the cohort based on carrier status and family history
Summary
Among the malignancies in women, breast and ovarian cancers account for a high proportion of new cases and deaths. A lower middle-income country with over 97 million people, has one of the lowest age-standardized incidence rates for breast and ovarian cancer. To the best of our knowledge, there is no effective screening method or national screening programme for ovarian cancers in Vietnam, the identification of high-risk subjects of ovarian cancer for prevention and timely treatment is meaningful and necessary. One of the risk factors for breast and ovarian cancers is mutations of breast cancer susceptibility genes, which were known to be BRCA1 and BRCA2—the dynamic regulators of genomic integrity. BRCA1 and BRCA2 inherited gene mutations, which greatly increase the risk of developing breast and ovarian cancers, are mutations that are frequently observed in hereditary breast and ovarian cancers (HBOC)
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
