FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.

ABSTRACT:

Background

FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical value of testing for mutations in RECQL and FANCM remains to be determined. In this study, we have characterised the spectrum of FANCM and RECQL mutations in women affected with breast or ovarian cancer from South-West Poland and West Ukraine.

Methods

We applied Hi-Plex, an amplicon-based enrichment method for targeted massively parallel sequencing, to screen the coding exons and proximal intron-exon junctions of FANCM and RECQL in germline DNA from unrelated women affected with breast cancer (n = 338) and ovarian cancer (n = 89) from Poland (n = 304) and

SUBMITTER: Nguyen-Dumont T 

PROVIDER: S-EPMC5775547 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature