Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.

ABSTRACT: A limited number of studies have focused on the mutational landscape of breast cancer in different ethnic populations within Europe and compared the data with other ethnic groups and databases. We performed whole-genome sequencing of 63 samples from 29 Hungarian breast cancer patients. We validated a subset of the identified variants at the DNA level using the Illumina TruSight Oncology (TSO) 500 assay. Canonical breast-cancer-associated genes with pathogenic germline mutations were CHEK2 and ATM. Nearly all the observed germline mutations were as frequent in the Hungarian breast cancer cohort as in independent European populations. The majority of the detected somatic short variants were single-nucleotide polymorphisms (SNPs), and only 8% and 6% of them were deletions or ins

SUBMITTER: Pipek O 

PROVIDER: S-EPMC10218458 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature