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A Novel BRCA1 Gene Mutation Detected With Breast Cancer in a Vietnamese Family by Targeted Next-Generation Sequencing: A Case Report
- Source :
- Breast Cancer : Basic and Clinical Research
- Publication Year :
- 2020
- Publisher :
- SAGE Publications, 2020.
-
Abstract
- Hereditary breast cancer is an inherited genetic condition, mainly caused by BRCA1 and BRCA2 gene mutations. These genetic changes can increase the risks of breast and ovarian cancers in women, while prostate and breast cancers in men. Especially, mutations in either BRCA1 or BRCA2 genes take important roles in early-onset breast cancer. The present study focused on a 47-year-old Vietnamese woman with breast cancer by applying targeted next-generation sequencing technique. A novel BRCA1 gene mutation, namely NM_007294.3 (BRCA1): c.4998insA (p. Tyr1666Terfs), was identified both in this patient and in some of the members in her family proved the fact that the mutated genes passed down through generations. This change may exponentially initiate breast cancer risks and become a valuable marker for exact clinical prognosis and treatment.
- Subjects :
- 0301 basic medicine
Cancer Research
endocrine system diseases
Vietnamese
Case Report
Gene mutation
DNA sequencing
03 medical and health sciences
breast cancer
0302 clinical medicine
Breast cancer
Prostate
medicine
family pedigree
skin and connective tissue diseases
Gene
Brca1 gene
business.industry
medicine.disease
language.human_language
early—onset period
030104 developmental biology
medicine.anatomical_structure
Oncology
030220 oncology & carcinogenesis
Mutation (genetic algorithm)
Cancer research
language
business
BRCA1 gene mutation
Subjects
Details
- ISSN :
- 11782234
- Volume :
- 14
- Database :
- OpenAIRE
- Journal :
- Breast Cancer: Basic and Clinical Research
- Accession number :
- edsair.doi.dedup.....888aa4f77c417494aa44d3e59a5dd48f