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

Breast disease Pub Date : 2023-11-10 DOI:10.3233/bd-220002
Adarsh Dharmarajan, Vipin Gopinath, Sangeetha Keloth Nayanar, Sobhith Velandi Kunnummal, Satheesan Balasubramanian, Deepak Roshan Valiyaparambil Gopi
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引用次数: 0

摘要

背景:乳腺癌是女性中最常见的癌症,每年的发病率为641,000例。个体的基因组成、种族、地理位置、生活方式和身体质量指数是与乳腺癌相关的一些很好的因素。众所周知,BRCA1和BRCA2的致病变异与大多数遗传性乳腺癌有关。全基因组关联研究(GWAS)已经确定了80多个与遗传性乳腺癌相关的种系易感位点。方法:采用下一代测序(NGS)对12例疑似有遗传关联的乳腺癌患者进行94个与遗传性癌症相关的基因分析。结果:12例患者中有4例(33%)携带BRCA1基因致病性突变。2例患者在BRCA1中发现p. E23Vfs*17突变,1例患者在BRCA1中发现p. glu1580gln突变,1例患者发现新的移码变体p. t1456ifs *9(c.4367Cdel)。结论:在本研究中,检测到的4个BRCA1基因突变中,有3个是已知的,1个是新的BRCA1突变。建议采用基于ngs的基因组测序来确定乳腺癌患者的遗传易感性。
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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.
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来源期刊
Breast disease
Breast disease Medicine-Oncology
CiteScore
1.80
自引率
0.00%
发文量
59
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.
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