Journal article
Hi-Plex for high-throughput mutation screening: Application to the breast cancer susceptibility gene PALB2
T Nguyen-Dumont, ZL Teo, BJ Pope, F Hammet, M Mahmoodi, H Tsimiklis, N Sabbaghian, M Tischkowitz, WD Foulkes, GG Giles, JL Hopper, MC Southey, DJ Park
BMC Medical Genomics | BMC | Published : 2013
Abstract
Background: Massively parallel sequencing (MPS) has revolutionised biomedical research and offers enormous capacity for clinical application. We previously reported Hi-Plex, a streamlined highly-multiplexed PCR-MPS approach, allowing a given library to be sequenced with both the Ion Torrent and TruSeq chemistries. Comparable sequencing efficiency was achieved using material derived from lymphoblastoid cell lines and formalin-fixed paraffin-embedded tumour. Methods. Here, we report high-throughput application of Hi-Plex by performing blinded mutation screening of the coding regions of the breast cancer susceptibility gene PALB2 on a set of 95 blood-derived DNA samples that had previously been..
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Grants
Awarded by National Breast Cancer Foundation
Funding Acknowledgements
TN-D is a Susan G. Komen for the Cure Postdoctoral Fellow. MCS is a Victorian Breast Cancer Research Consortium Group Leader and a National Health and Medical Research Council Senior Research Fellow. The Australian Breast Cancer Family Registry (ABCFR; 1992-1995) was supported by the Australian NHMRC, the New South Wales Cancer Council, the Victorian Health Promotion Foundation (Australia). We wish to thank Margaret McCredie for key role in the establishment and leadership of the ABCFR in Sydney, Australia, and the families who donated their time, information and biospecimens. This work was supported by grant UM1 CA164920 from the National Cancer Institute. 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), nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government or the BCFR. We wish to thank Heather Thorne, Eveline Niedermayr, all the kConFab research nurses and staff, the heads and staff of the Family Cancer Clinics, and the Clinical Follow Up Study (funded 2001-2009 by NHMRC and currently by the National Breast Cancer Foundation and Cancer Australia #628333) for their contributions to this resource, and the many families who contribute to kConFab. kConFab is supported by grants from the National Breast Cancer Foundation, the National Health and Medical Research Council (NHMRC) and by the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. This work was supported by the Australian National Health and Medical Research Council (NHMRC) (APP1025879 and APP1029974), the National Institute of Health, USA (RO1CA155767) and by a Victorian Life Sciences Computation Initiative (VLSCI) grant (number VR0182) on its Peak Computing Facility, an initiative of the Victorian Government.