Prevalence of clinically actionable disease variants in exceptionally long-lived families.

ABSTRACT:

Background

Phenotypic expression of pathogenic variants in individuals with no family history of inherited disorders remains unclear.

Methods

We evaluated the prevalence of pathogenic variants in 25 genes associated with Mendelian-inherited disorders in 3015 participants from 485 families in the Long Life Family Study (LLFS). Boot-strapping and Fisher's exact test were used to determine whether allele frequencies in LLFS were significantly different from the allele frequencies reported in publicly available genomic databases.

Results

The proportions of pathogenic autosomal dominant mutation carriers in BRCA1 and SDHC in LLFS study participants were similar to those reported in publicly available genomic databases (0.03% vs. 0.0008%, p = 1 for BRCA1, and 0.08% vs. 0.00

SUBMITTER: Carlson P 

PROVIDER: S-EPMC7146901 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature