Journal article
Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families
ZL Teo, DJ Park, E Provenzano, CA Chatfield, FA Odefrey, T Nguyen-Dumont, JG Dowty, JL Hopper, I Winship, DE Goldgar, MC Southey
Breast Cancer Research | Published : 2013
DOI: 10.1186/bcr3392
Abstract
Introduction: Population-based studies of breast cancer have estimated that some PALB2 mutations confer a breast cancer risk (penetrance) comparable to the average pathogenic mutation in BRCA2. As this risk is of clinical relevance, we sought to identify mono-allelic PALB2 mutations and determine their frequencies in multiple-case breast cancer families attending Familial Cancer Clinics in Australia and New Zealand.Methods: The youngest affected woman, not known to carry a mutation in BRCA1 or BRCA2, from 747 multiple-case breast cancer families participating in kConFab were selected for PALB2 mutation screening. The coding and flanking intronic regions of PALB2 in DNA extracted from blood w..
View full abstractRelated Projects (2)
Grants
Awarded by National Health and Medical Research Council
Funding Acknowledgements
[ "We wish to thank Heather Thorne (OAM), 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 the National Health and Medical Research Council of Australia (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 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 also supported by the NHMRC (Project Grant APP1029974) and the Victorian Breast Cancer Research Consortium (VBCRC). ZLT was supported by Postgraduate Scholarships provided by the Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne and the NHMRC (Dora Lush Postgraduate Fellowship). TN-D is the recipient of a postdoctoral fellowship from the Susan G. Komen for the Cure Foundation. MCS is a NHMRC Senior Research Fellow and a Group Leader of the VBCRC. JLH is a NHMRC Australia Fellow and a VBCRC Group Leader." ]