Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.

ABSTRACT:

Importance

Knowledge about the spectrum of diseases associated with hereditary cancer syndromes may improve disease diagnosis and management for patients and help to identify high-risk individuals.

Objective

To identify phenotypes associated with hereditary cancer genes through a phenome-wide association study.

Design, setting, and participants

This phenome-wide association study used health data from participants in 3 cohorts. The Electronic Medical Records and Genomics Sequencing (eMERGEseq) data set recruited predominantly healthy individuals from 10 US medical centers from July 16, 2016, through February 18, 2018, with a mean follow-up through electronic health records (EHRs) of 12.7 (7.4) years. The UK Biobank (UKB) cohort recruited participants from March 15, 20

SUBMITTER: Zeng C 

PROVIDER: S-EPMC9026237 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature