在中国Hakka乳腺癌患者的BRCA1和BRCA2生殖基因突变
Yinmei Zhang1,2, Heming Wu1, Caiyan Gan1,2
1Center for Precision Medicine, Meizhou People's Hospital (Huangtang Hospital), Meizhou Academy of Medical Sciences, No 63 Huangtang Road, Meijiang District, Meizhou, 514031, P. R. China.
BMC medical genomics
|January 3, 2024
概括
这项研究在中国Hakka乳腺癌患者中发现了常见的BRCA1/2基因变异. 癌症,双边疾病,HER2阴性状态和高Ki67水平的家族病史独立预测了BRCA1/2突变.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 流行病学 流行病学
背景情况:
- 乳腺癌在全球仍然是一个重大的健康问题,像BRCA1和BRCA2这样的基因突变起着至关重要的作用.
- 了解这些基因变异在特定族群 (如中国哈卡人) 中的流行率和临床影响,对于有针对性的查和治疗策略至关重要.
研究的目的:
- 确定BRCA1/2基因变异在中国Hakka乳腺癌患者中的频率.
- 分析与该人群中BRCA1/2变异相关的临床和病理特征.
主要方法:
- 用下一代测序分析了409名乳腺癌患者的BRCA1/2基因状态.
- 采集了临床,病理和生殖数据,并使用逻辑回归进行统计分析,以确定与BRCA1/2突变的关联.
主要成果:
- 在409名患者中,有72名患者 (17.6%) 携带了致病或可能致病的BRCA1/2变异.
- 最常见的BRCA1变体是c.2635G>T (p.Glu879*),最常见的BRCA2变体是c.5164_5165del (p.Ser1722Tyrfs*4). 这两种变体是最常见的.
- BRCA1 携带者更经常是三阴性,而 BRCA2 携带者经常有雌激素受体 (ER) 阳性和孕激素受体 (PR) 阳性瘤. 癌症家族史,双边癌症,HER2阴性状态和Ki67≥15%是BRCA1/2突变的显著预测因素.
结论:
- 特定的BRCA1 (c.2635G>T) 和BRCA2 (c.5164_5165del) 变异在中国Hakka乳腺癌患者中普遍存在.
- 癌症家族史,双边乳腺癌,HER2阴性状态和高Ki67表达是该队列BRCA1/2致病变体的独立预测因素.
相关概念视频
The Retinoblastoma Gene
4.1K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.1K
Mismatch Repair
4.9K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
4.9K
Loss of Tumor Suppressor Gene Functions
4.8K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
4.8K
Cancer Prevention
6.2K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.2K


