Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients.

ABSTRACT:

Background

The RecQ Like Helicase (RECQL) gene has previously been shown to predispose to breast cancer mainly in European populations, in particular to estrogen receptor (ER) and/or progesterone receptor (PR) positive tumor. Here, we investigated the contribution of pathogenic RECQL germline variants to hereditary breast cancer in early-onset and familial breast cancer patients from Pakistan.

Methods

Comprehensive RECQL variant analysis was performed in 302 BRCA1 and BRCA2 negative patients with ER and/or PR positive breast tumors using denaturing high-performance liquid chromatography followed by DNA sequencing. Novel variants were classified using Sherloc guidelines.

Results

One novel pathogenic protein-truncating variant (p.W75*) was identified in a 37-year-old fa

SUBMITTER: Rashid MU 

PROVIDER: S-EPMC7749988 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature