| 项目编号 | PRJCA010855 | ||||||||
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| 项目标题 | Next-generation sequencing based detection of BRCA1 and BRCA2 large genomic rearrangements in Chinese cancer patients | ||||||||
| 涉及领域 | Medical | ||||||||
| 数据类型 | Targeted Locus (Loci) | ||||||||
| 物种名称 | Homo sapiens | ||||||||
| 描述信息 | BRCA1/2 mutation is a biomarker for guiding multiple solid tumor treatment. However, the prevalence of BRCA1/2 large genomic rearrangements (LGRs) in Chinese cancer patients has not been well revealed. This study utilized next-generation sequencing (NGS) to analyze the BRCA1/2 mutation profile, including LGR, in 56126 Chinese cancer patients. DNA sequencing identified BRCA1/2 variants in 2108 individuals. LGR accounted for 7.8% (70/888) of the total variants in BRCA1 and 1.1% (14/1284) in BRCA2. Among the LGRs detected, exon 1-2 deletion was the predominant LGR (14/70) in BRCA1, and exon 22-24 deletion was the most frequent LGR (3/14) in BRCA2. Notably, BRCA1 exon 7 deletion was a novel LGR and was identified in six patients, suggesting a specific LGR in Chinese cancer patients. BRCA1 LGR more frequently occurred in ovarian cancer (1.31%), and BRCA2 LGR was more commonly seen in cholangiocarcinoma (0.47%). Two ovarian and breast cancer patients with BRCA1/2 LGR benefited from PARPi therapy. | ||||||||
| 样品范围 | Multiisolate | ||||||||
| 发布日期 | 2022-08-31 | ||||||||
| 项目资金来源 |
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| 提交者 | Hao Chen (hao.chen1@3dmedcare.com) | ||||||||
| 提交单位 | 3D Medicines Inc. | ||||||||
| 提交日期 | 2022-07-28 |
| 资源名称 | 描述 |
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| BioSample (84) show | - |