A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer

作者: Melissa Rotunno , Rolando Barajas , Mindy Clyne , Elise Hoover , Naoko I. Simonds

DOI: 10.1158/1055-9965.EPI-19-1551

关键词:

摘要: The application of next-generation sequencing (NGS) technologies in cancer research has accelerated the discovery somatic mutations; however, progress identification germline variation associated with risk is less clear. We conducted a systematic literature review genetic susceptibility studies that used NGS at an exome/genome-wide scale to obtain fuller understanding landscape date and inform future studies. variability across on methodologies reporting was considerable. Most sequenced few high-risk (mainly European) families, candidate analysis approach, identified potential cancer-related variants or genes small fraction cases. This highlights importance establishing consensus standards for filtering strategies. It also describes date. These findings point untapped conducting appropriately sized racially diverse families populations, combining results expanding beyond approach advance accounts unexplained heritability.

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