1. A Novel BRCA1 Gene Mutation Detected With Breast Cancer in a Vietnamese Family by Targeted Next-Generation Sequencing: A Case Report
- Author
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Duong Minh Long, Bach Thi Hoai Phuong, Nguyen Tien Quang, Nguyen Thi Quynh Tho, Pham Thi Han, Bui Hai Ha, Pham Hong Khoa, Phung Thi Huyen, Dao Van Tu, Tran Van Thuan, and Nguyen Van Chu
- 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 - 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.
- Published
- 2020