Cancer carrier screening in the general population using whole-genome sequencing.

ABSTRACT:

Background

Cancer is a major cause of death, and its early identification and intervention have potential for clinical actionability and benefits for human health. The studies using whole-genome sequencing (WGS) and large samples analysis of cancer-related genes have been rarely done.

Methods

We performed WGS to explore germline mutations in coding and non-coding areas of cancer-related genes and non-coding driver genes and regulatory areas. Structural variants (SVs) was also analyzed. We used several tools and a subgrouping method to analyze the variants in 1491 healthy participants. Moreover, 275 cancer-related genes sequencing was carried out in 125 cancer patients.

Results

The incidence of familial cancer in the Taiwanese general population is 8.79% (131/1491). Ca

SUBMITTER: Chang YS 

PROVIDER: S-EPMC9883534 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature