Journal article
A PALB2 mutation associated with high risk of breast cancer
MC Southey, ZL Teo, JG Dowty, FA Odefrey, DJ Park, M Tischkowitz, N Sabbaghian, C Apicella, GB Byrnes, I Winship, L Baglietto, GG Giles, DE Goldgar, WD Foulkes, JL Hopper
Breast Cancer Research | BMC | Published : 2010
DOI: 10.1186/bcr2796
Abstract
Introduction: As a group, women who carry germline mutations in partner and localizer of breast cancer 2 susceptibility protein (PALB2) are at increased risk of breast cancer. Little is known about by how much or whether risk differs by mutation or family history, owing to the paucity of studies of cases unselected for family history.Methods: We screened 1,403 case probands for PALB2 mutations in a population-based study of Australian women with invasive breast cancer stratified by age at onset. The age-specific risk of breast cancer was estimated from the cancer histories of first- and second-degree relatives of mutation-carrying probands using a modified segregation analysis that included ..
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Grants
Awarded by National Breast Cancer Foundation
Funding Acknowledgements
The Australian Breast Cancer Family Registry was supported by the National Health and Medical Research Council of Australia, the New South Wales Cancer Council, the Victorian Health Promotion Foundation (Australia) and the National Cancer Institute, National Institutes of Health, under grant RFA-CA-06-503 and through cooperative agreements with members of the Breast Cancer Family Registry and principal investigators. The University of Melbourne (U01 CA69638) contributed data to this study. The content of this manuscript does not necessarily reflect the views or the policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry, nor does mention of trade names, commercial products or organizations imply endorsement by the U.S. government or the Breast Cancer Family Registry. We extend our thanks to the many women and their families who generously participated in the Australian Breast Cancer Family Study and consented to allow us access to their pathology material. We 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 by National Health and Medical Research Council (NHMRC) grants 145684, 288704 and 454508) for their contributions to this resource, as well as the many families who contribute to kConFab. kConFab is supported by grants from the National Breast Cancer Foundation, the NHMRC and the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. We thank Margaret McCredie for her key role in the establishment and leadership of the ABCFS in Sydney, Australia. MCS is a National Health and Medical Research Council Senior Research Fellow and Victorian Breast Cancer Research Consortium (VBCRC) Group Leader. JLH is an Australia Fellow of the National Health and Medical Research Council and a VBCRC Group Leader. MT is supported by the Susan G. Komen Foundation for the Cure, the Jewish General Hospital Weekend to End Breast Cancer and Fonds de la Recherche en Sante du Quebec (FRSQ). WDF is a Chercheur National of the FRSQ.