Journal article
Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry
T Nguyen-Dumont, F Hammet, M Mahmoodi, H Tsimiklis, ZL Teo, R Li, BJ Pope, MB Terry, SS Buys, M Daly, JL Hopper, I Winship, DE Goldgar, DJ Park, MC Southey
Breast Cancer Research and Treatment | SPRINGER | Published : 2015
Abstract
Loss-of-function mutations in PALB2 are associated with an increased risk of breast cancer, with recent data showing that female breast cancer risks for PALB2 mutation carriers are comparable in magnitude to those for BRCA2 mutation carriers. This study applied targeted massively parallel sequencing to characterize the mutation spectrum of PALB2 in probands attending breast cancer genetics clinics in the USA. The coding regions and proximal intron–exon junctions of PALB2 were screened in probands not known to carry a mutation in BRCA1 or BCRA2 from 1,250 families enrolled through familial cancer clinics by the Breast Cancer Family Registry. Mutation screening was performed using Hi-Plex, an ..
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Awarded by University of Melbourne
Funding Acknowledgements
TN-D is a Susan G. Komen for the Cure Post-doctoral Fellow. ZLT was supported by Postgraduate Scholarships provided by the Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne and the National Health and Medical Research Council (NHMRC, Australia). RL is supported by UROP, a program of Biomedical Research Victoria, by the Victorian Life Sciences Computation Initiative (VLSCI) and by the Department of Pathology, The University of Melbourne. MCS is an NHMRC Senior Research Fellow. The Utah, New York, and Philadelphia sites of the Breast Cancer Family Registry were supported by Grant UM1 CA164920 from the National Cancer Institute (USA). The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), or does mention of trade names, commercial products, or organizations imply endorsement by the USA Government or the BCFR. This work was supported by the Australian National Health and Medical Research Council (NHMRC) (APP1025879 and APP1029974), the Victorian Breast Cancer Research Consortium and by a VLSCI Grant (number VR0182) on its Peak Computing Facility, an initiative of the Victorian Government.