Journal article
FANCM and RECQL genetic variants and breast cancer susceptibility: Relevance to South Poland and West Ukraine
T Nguyen-Dumont, A Myszka, P Karpinski, MM Sasiadek, H Akopyan, F Hammet, H Tsimiklis, DJ Park, BJ Pope, R Slezak, N Kitsera, A Siekierzynska, MC Southey
BMC Medical Genetics | BMC | Published : 2018
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 affe..
View full abstractGrants
Awarded by National Health and Medical Research Council
Funding Acknowledgements
This work was supported by the Australian National Health and Medical Research Council (APP1029974 and APP1074383) and by a Victorian Life Sciences Computation Initiative grant (number VR0182) on its Peak Computing Facility, an initiative of the Victorian Government. AM was supported by a Research Fellowship within "UR - modernity and future of region" from the European Social Fund, Human Capital, national Cohesion Strategy (contract no. UDA-POKL.04.01.01-00-068/10-00). TN-D is a career Development Fellow of the National Breast Cancer Foundation (Australia). MCS is a National Health and Medical Research Council (Australia) Senior Research Fellow (APP1061177).