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Updated: May 27, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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评估罕见的蛋白质编码生殖系变异对37184例前列腺癌风险和严重性的贡献

Jonathan Mitchell1, Niedzica Camacho2, Patrick Shea3

  • 1Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK. jonathan.mitchell@astrazeneca.com.

Nature communications
|February 19, 2025
PubMed
概括

罕见的遗传变异显著影响前列腺癌的风险和严重程度. 这项研究确定了与增加风险相关的BRCA2和ATM等关键基因,以及与降低风险相关的TERT变异,为临床预测提供了洞察力.

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