How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?

ABSTRACT:

Background

The popularity of multigene testing increases the probability of identifying variants of uncertain significance (VUS). While accurate variant interpretation enables clinicians to be better informed of the genetic risk of their patients, currently, there is a lack of consensus management guidelines for clinicians on VUS.

Methods

Among the BRCA1 and BRCA2 mutations screening in 3,544 subjects, 236 unique variants (BRCA1: 86; BRCA2: 150) identified in 459 patients were being reviewed. These variants consist of 231 VUS and 5 likely benign variants at the initial classification.

Results

The variants in 31.8% (146/459) patients were reclassified during the review, which involved 26 unique variants (11.0%). Also, 31 probands (6.8%) and their family members were of

SUBMITTER: Kwong A 

PROVIDER: S-EPMC9158111 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature