Affiliations: [a] Department of Surgical Oncology, Malabar Cancer Centre, Moozhikkara P.O., Thalassery, Kerala, India | [b] Division of Genetics and Cytogenetics, Department of Clinical Lab Services and Translational Research, Malabar Cancer Centre, Moozhikkara P.O., Thalassery, Kerala, India | [c] Division of Oncopathology, Department of Clinical Lab Services and Translational Research, Malabar Cancer Centre, Moozhikkara P.O., Thalassery, Kerala, India | [d] Cancer Genetics Clinic, Malabar Cancer Centre, Moozhikkara P.O., Thalassery, Kerala, India
Correspondence:
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Corresponding author: Deepak Roshan V.G., Division of Genetics and Cytogenetics, Department of Clinical Lab Services and Translational Research Malabar Cancer Centre, Moozhikkara P.O., Thalassery, Kerala, India. Te.l: +91 490 2399264; Fax: +91 490 2355880; E-mail: [email protected]
Abstract: BACKGROUND:Breast cancer is the most common cancer among females, with an incidence of 6,41,000 cases annually. The genetic makeup of the individuals, ethnicity, geographical location, lifestyle, and BMI are some well-described factors associated with breast cancer. It is well known that pathogenic variants in BRCA1 and BRCA2 are associated with a majority of hereditary breast cancer. Genome-wide association studies (GWAS) have identified more than 80 germline susceptibility loci responsible for hereditary breast cancer. METHODS:In the present study, analysis of 94 genes associated with hereditary cancer was performed using next generation sequencing (NGS) in twelve patients having breast cancer and suspected with hereditary association. RESULTS:Four out of twelve (33%) patients harbored pathogenic mutation of the BRCA1 gene. Two patients was identified p. E23Vfs*17 mutation in BRCA1, one patient had p.Glu1580Gln in BRCA1, and a novel frameshift variant p.T1456Ifs*9(c.4367Cdel) in one patient. CONCLUSION:In the present study, out of four detected mutations in the BRCA1 gene, three were known and one was a novel BRCA1 mutation. It is advised to perform NGS-based genome sequencing to identify the genetic predisposition in breast cancer patients.
Keywords: Hereditary breast Cancer, BRCA1, NGS
DOI: 10.3233/BD-220002
Journal: Breast Disease, vol. 42, no. 1, pp. 341-347, 2023
