Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: a systematic review and meta-analysis of gene-panel data

Next-generation sequencing technologies allow for the sequencing of multiple genes simultaneously in a cost-effective way, increasing the likelihood of detecting variants (Walsh et al., 2010). This technological breakthrough allowed commercial gene-panel testing for breast cancer predisposition to enter clinical practice, with a promise towards personalized care (Desmond et al., 2015). Since the discovery two decades ago that mutations in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer syndrome with an autosomal dominant pattern of inheritance, a huge amount of research has been dedicated to these genes.
Source: Critical Reviews in Oncology Hematology - Category: Cancer & Oncology Authors: Source Type: research