{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T11:34:19Z","timestamp":1784288059378,"version":"3.55.0"},"reference-count":29,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2022,1,29]],"date-time":"2022-01-29T00:00:00Z","timestamp":1643414400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Vietnam Ministry of Health:","award":["3904\/ Q\u0110-BYT"],"award-info":[{"award-number":["3904\/ Q\u0110-BYT"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>(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\u2019s 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.<\/jats:p>","DOI":"10.3390\/genes13020268","type":"journal-article","created":{"date-parts":[[2022,1,29]],"date-time":"2022-01-29T23:02:06Z","timestamp":1643497326000},"page":"268","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["BRCA1\/2 Mutations in Vietnamese Patients with Hereditary Breast and Ovarian Cancer Syndrome"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1214-9326","authenticated-orcid":false,"given":"Trong-Nhan N.","family":"Le","sequence":"first","affiliation":[{"name":"Hanoi Medical University, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Van-Khanh","family":"Tran","sequence":"additional","affiliation":[{"name":"Hanoi Medical University, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thu-Thuy","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Hanoi Medical University, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nam S.","family":"Vo","sequence":"additional","affiliation":[{"name":"Center for Biomedical Informatics, Vingroup Big Data Institute, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tham H.","family":"Hoang","sequence":"additional","affiliation":[{"name":"Center for Biomedical Informatics, Vingroup Big Data Institute, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5992-875X","authenticated-orcid":false,"given":"Hoang-Long","family":"Vo","sequence":"additional","affiliation":[{"name":"Hanoi Medical University, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thanh-Hai T.","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Hanoi Medical University, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phuoc-Dung","family":"Nguyen","sequence":"additional","affiliation":[{"name":"National Institute of Hematology and Blood Transfusion, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viet-Tien","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Hanoi Medical University, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thanh-Van","family":"Ta","sequence":"additional","affiliation":[{"name":"Hanoi Medical University, Hanoi 100000, Vietnam"},{"name":"Hanoi Medical University Hospital, Hanoi Medical University, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huy-Thinh","family":"Tran","sequence":"additional","affiliation":[{"name":"Hanoi Medical University, Hanoi 100000, Vietnam"},{"name":"Hanoi Medical University Hospital, Hanoi Medical University, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,1,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.3322\/caac.21660","article-title":"Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries","volume":"71","author":"Sung","year":"2021","journal-title":"CA Cancer J. Clin."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1177\/1758834017714993","article-title":"BRCA mutation in ovarian cancer: Testing, implications and treatment considerations","volume":"9","author":"Neff","year":"2017","journal-title":"Ther. Adv. Med. Oncol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1200\/JCO.2013.53.2820","article-title":"Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation","volume":"32","author":"Finch","year":"2014","journal-title":"J. Clin. Oncol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2331","DOI":"10.31557\/APJCP.2020.21.8.2331","article-title":"Recurrent BRCA1 Mutation, but no BRCA2 Mutation, in Vietnamese Patients with Ovarian Carcinoma Detected with Next Generation Sequencing","volume":"21","author":"Vu","year":"2020","journal-title":"Asian Pac. J. Cancer Prev."},{"key":"ref_5","first-page":"1178223420901555","article-title":"A Novel BRCA1 Gene Mutation Detected With Breast Cancer in a Vietnamese Family by Targeted Next-Generation Sequencing: A Case Report","volume":"14","author":"Khoa","year":"2020","journal-title":"Breast Cancer"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1093\/jnci\/91.11.943","article-title":"Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer","volume":"91","author":"Peto","year":"1999","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1002\/ijc.28014","article-title":"Optimal age to start preventive measures in women with BRCA1\/2 mutations or high familial breast cancer risk","volume":"133","author":"Lingsma","year":"2013","journal-title":"Int. J. Cancer"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1136\/jcp.2005.032151","article-title":"Distinction between hereditary and sporadic breast cancer on the basis of clinicopathological data","volume":"59","author":"Bouter","year":"2006","journal-title":"J. Clin. Pathol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1038\/sj.bjc.6604305","article-title":"The BOADICEA model of genetic susceptibility to breast and ovarian cancers: Updates and extensions","volume":"98","author":"Antoniou","year":"2008","journal-title":"Br. J. Cancer"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1462","DOI":"10.1038\/s41436-019-0459-4","article-title":"Correction: BOADICEA: A comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors","volume":"21","author":"Lee","year":"2019","journal-title":"Genet. Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1038\/sj.bjc.6600008","article-title":"A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes","volume":"86","author":"Antoniou","year":"2002","journal-title":"Br. J. Cancer"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1038\/sj.bjc.6602175","article-title":"The BOADICEA model of genetic susceptibility to breast and ovarian cancer","volume":"91","author":"Antoniou","year":"2004","journal-title":"Br. J. Cancer"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1038\/ng0695-208","article-title":"Rapid detection of BRCA1 mutations by the protein truncation test","volume":"10","author":"Hogervorst","year":"1995","journal-title":"Nat. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1007\/s004390050799","article-title":"A high proportion of mutations in the BRCA1 gene in German breast\/ovarian cancer families with clustering of mutations in the 3\u2032 third of the gene","volume":"103","author":"Debatin","year":"1998","journal-title":"Hum. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1002\/humu.20340","article-title":"A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: Application in a Dutch cancer clinic setting","volume":"27","author":"Gille","year":"2006","journal-title":"Hum. Mutat."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/s10549-010-1325-x","article-title":"Comprehensive genetic characterization of hereditary breast\/ovarian cancer families from Slovakia","volume":"126","author":"Konecny","year":"2011","journal-title":"Breast Cancer Res. Treat."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2276","DOI":"10.1158\/1055-9965.EPI-07-0403","article-title":"BRCA1 and BRCA2 mutations in an Asian clinic-based population detected using a comprehensive strategy","volume":"16","author":"Ang","year":"2007","journal-title":"Cancer Epidemiol. Biomarkers Prev."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2309","DOI":"10.1093\/hmg\/6.13.2309","article-title":"Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: Evidence for additional susceptibility genes","volume":"6","author":"Vehmanen","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1002\/ijc.10194","article-title":"BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines","volume":"98","author":"Matsuda","year":"2002","journal-title":"Int. J. Cancer"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/ng0396-333","article-title":"The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds","volume":"12","author":"Tavtigian","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"e39","DOI":"10.3802\/jgo.2017.28.e39","article-title":"Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing","volume":"28","author":"Zhao","year":"2017","journal-title":"J Gynecol. Oncol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1111\/j.1399-0004.2010.01545.x","article-title":"Family history, BRCA mutations and breast cancer in Vietnamese women","volume":"80","author":"Ginsburg","year":"2011","journal-title":"Clin. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1480","DOI":"10.1200\/JCO.2002.20.6.1480","article-title":"Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals","volume":"20","author":"Frank","year":"2002","journal-title":"J. Clin. Oncol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1200\/JCO.2005.04.109","article-title":"Risk-reducing salpingo-oophorectomy in BRCA mutation carriers: Role of serial sectioning in the detection of occult malignancy","volume":"23","author":"Powell","year":"2005","journal-title":"J. Clin. Oncol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1038\/s41586-018-0461-z","article-title":"Accurate classification of BRCA1 variants with saturation genome editing","volume":"562","author":"Findlay","year":"2018","journal-title":"Nature"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1001\/jama.2014.5985","article-title":"Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer","volume":"313","author":"Rebbeck","year":"2015","journal-title":"JAMA"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"4752","DOI":"10.1200\/JCO.2008.16.8310","article-title":"Performance of BRCA1\/2 mutation prediction models in Asian Americans","volume":"26","author":"Kurian","year":"2008","journal-title":"J. Clin. Oncol."},{"key":"ref_29","unstructured":"NCCN (2017). NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines\u00ae) Genetic\/Familial High-Risk Assecessment: Breast and Ovarian Version 2, Cold Spring Publishing LLC."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/2\/268\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T22:10:57Z","timestamp":1760134257000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/2\/268"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,29]]},"references-count":29,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,2]]}},"alternative-id":["genes13020268"],"URL":"https:\/\/doi.org\/10.3390\/genes13020268","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,29]]}}}