Identifying the missing heritability of breast cancer
Grant number: 1025145 | Funding period: 2012 - 2014
One of the strongest risk factors for the development of breast cancer is having a close relative with the disease. Some advances have been made in understanding the specific genetic factors that underlie this susceptibility but these known genetic factors only explain about a third of the overall familial effects. This research will utilise our prior research, international research resources, new technology and supercomputing to identify the majority of genetic factors associated with breast cancer susceptibility.
Related publications (3)
Is RNASEL:p.Glu265*a modifier of early-onset breast cancer risk for carriers of high-risk mutations?
Tu Nguyen-Dumont, Zhi L Teo, Fleur Hammet, Alexis Roberge, Maryam Mahmoodi, Helen Tsimiklis, Daniel J Park, Bernard J Pope, Andrew Lonie, Miroslav K Kapuscinski, Khalid Mahmood, David E Goldgar, Graham G Giles, Ingrid Winship, John L Hopper, Melissa C Southey
BACKGROUND: Breast cancer risk for BRCA1 and BRCA2 pathogenic mutation carriers is modified by risk factors that cluster in famili..
Annokey: an annotation tool based on key term search of the NCBI Entrez Gene database
Daniel J Park, Tú Nguyen-Dumont, Sori Kang, Karin Verspoor, Bernard J Pope
Background The NCBI Entrez Gene and PubMed databases contain a wealth of high-quality information about genes for many different o..
FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets
Bernard J Pope, Nguyen-Dumont Tu, Fabrice Odefrey, Fleur Hammet, Russell Bell, Kayoko Tao, Sean V Tavtigian, David E Goldgar, Andrew Lonie, Melissa C Southey, Daniel J Park
BACKGROUND: Characterising genetic diversity through the analysis of massively parallel sequencing (MPS) data offers enormous pote..