{"title":"喀拉拉邦乳腺癌患者的基因组分析:检测到一种新的BRCA1突变","authors":"Adarsh Dharmarajan, Vipin Gopinath, Sangeetha Keloth Nayanar, Sobhith Velandi Kunnummal, Satheesan Balasubramanian, Deepak Roshan Valiyaparambil Gopi","doi":"10.3233/bd-220002","DOIUrl":null,"url":null,"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.","PeriodicalId":9224,"journal":{"name":"Breast disease","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genomic analysis of breast cancer patients from Kerala: A novel BRCA1 mutation detected\",\"authors\":\"Adarsh Dharmarajan, Vipin Gopinath, Sangeetha Keloth Nayanar, Sobhith Velandi Kunnummal, Satheesan Balasubramanian, Deepak Roshan Valiyaparambil Gopi\",\"doi\":\"10.3233/bd-220002\",\"DOIUrl\":null,\"url\":null,\"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.\",\"PeriodicalId\":9224,\"journal\":{\"name\":\"Breast disease\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-11-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Breast disease\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3233/bd-220002\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Breast disease","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3233/bd-220002","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Genomic analysis of breast cancer patients from Kerala: A novel BRCA1 mutation detected
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.
期刊介绍:
The recent expansion of work in the field of breast cancer inevitably will hasten discoveries that will have impact on patient outcome. The breadth of this research that spans basic science, clinical medicine, epidemiology, and public policy poses difficulties for investigators. Not only is it necessary to be facile in comprehending ideas from many disciplines, but also important to understand the public implications of these discoveries. Breast Disease publishes review issues devoted to an in-depth analysis of the scientific and public implications of recent research on a specific problem in breast cancer. Thus, the reviews will not only discuss recent discoveries but will also reflect on their impact in breast cancer research or clinical management.