Journal article
Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles
FJ Gracia-Aznarez, V Fernandez, G Pita, P Peterlongo, O Dominguez, M de la Hoya, M Duran, A Osorio, L Moreno, A Gonzalez-Neira, JM Rosa-Rosa, O Sinilnikova, S Mazoyer, J Hopper, C Lazaro, M Southey, F Odefrey, S Manoukian, I Catucci, T Caldes Show all
Plos One | Published : 2013
Abstract
The identification of the two most prevalent susceptibility genes in breast cancer, BRCA1 and BRCA2, was the beginning of a sustained effort to uncover new genes explaining the missing heritability in this disease. Today, additional high, moderate and low penetrance genes have been identified in breast cancer, such as P53, PTEN, STK11, PALB2 or ATM, globally accounting for around 35 percent of the familial cases. In the present study we used massively parallel sequencing to analyze 7 BRCA1/BRCA2 negative families, each having at least 6 affected women with breast cancer (between 6 and 10) diagnosed under the age of 60 across generations. After extensive filtering, Sanger sequencing validatio..
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Awarded by National Cancer Institute
Funding Acknowledgements
FSMH is supported by the Dutch Cancer Society (project UL 2009-4388). 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). The Breast Cancer Family Registry (BCFR) was supported by the National Cancer Institute, National Institutes of Health under RFA # CA-06-503, and through cooperative agreements with members of the BCFR and Principal Investigators, including Cancer Care Ontario (U01 CA69467), Columbia University (U01 CA69398), Fox Chase Cancer Center (U01 CA69631), Huntsman Cancer Institute (U01 CA69446), Cancer Prevention Institute of California (U01 CA69417), University of Melbourne (U01 CA69638) and Research Triangle Institute Informatics Support Center (RFP No. N02PC45022-46). MCS is a NHMRC Senior Research Fellow and Victorian Breast Cancer Research Consortium (VBCRC) Group Leader. JLH is a NHMRC Australia Fellow and VBCRC Group Leader. The Instituto Catalan de Oncologia (ICO) was granted by Asociacion Espanola Contra el Cancer, Spanish Health Research Fund; Carlos III Health Institute; Catalan Health Institute and Autonomous Government of Catalonia. Contract grant numbers: ISCIIIRETIC RD06/0020/1051, PI10/01422, PI10/00748 and 2009SGR290. The Hospital Clinico de San Carlos (HCSC) was supported by Instituto de Salud Carlos III, Fondo de Investigacion Sanitaria (FIS) Research Grant 09/00859 to MdH. Red Tematica de Investigacion Cooperativa en Cancer; Instituto de Salud Carlos III, Fondo Europeo de Desarrollo Regional (RETICC 06/0020/0021) supported TC, and MdH. The Spanish National Cancer Research Center (CNIO) was supported by Asociacion Espanola Contra el Cancer (AECC), Fondo de Investigaciones Sanitarias (FIS) Research Grant IP08-1120, RETICC RD06/0020/1106. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.