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通过临床测序来确定中国大型肺癌队列中致病性生殖系变异的鉴定

Zhe Yu1, Zirui Zhang2, Jun Liu3

  • 1Department of Respiratory Medicine, Ningbo NO.2 Hospital, China.

Molecular oncology
|October 27, 2023
PubMed
概括

这项研究在中国9.7%的肺癌患者中发现了致病性生殖系变异,主要是在DNA损伤修复基因中. 某些变体,如SBDS和TSHR,显示与增加肺癌风险的显著关联.

关键词:
修复DNA损伤的修复细菌系变体的细菌系变体遗传性癌症综合征遗传性癌症综合征肺癌是一种肺癌.

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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