Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan

ConclusionsIn our HBC clinic, we observed that our rate of positive results is comparable, yet at the higher end of the range which is reported in other populations.  The importance of expanded, multi-gene panel testing is highlighted by the fact that almost half of the patients had pathogenic or likely pathogenic variants in genes other thanBRCA1/2, and that our test positivity rate would have only been 12.8% if onlyBRCA1/2 testing was done. As the database expands and protocol-driven referrals are made across the country, our insight about the genetic architecture of HBC in our population will continue to increase.
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research