Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.

ABSTRACT:

Background

In germline genetic testing, variants from understudied ancestries have been disproportionately classified as being of uncertain significance. We hypothesized that the rate of variant reclassification likewise differs by ancestry.

Methods

Nonbenign variants in actionable genes were collected from consenting subjects undergoing genetic testing at two Southern California sites from September 1996 through December 2016. Variant reclassifications were recorded as they were received, until February 2017 or reclassification to benign. Excluding duplicate variants (same ancestry, laboratory, classification), generalized linear models for the hereditary breast cancer genes (BRCA1/2) and other variants investigated whether rate of reclassification differed for seven catego

SUBMITTER: Slavin TP 

PROVIDER: S-EPMC6249694 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature