BREAST CANCER RISK AFTER DIAGNOSTIC GENE SEQUENCING (BRIDGES)
Grant number: 1101400 | Funding period: 2015 - 2021
In BRIDGES, we aim to build a knowledge base to better define individual breast cancer risk. We bring together, in a multidisciplinary team, data and expertise from clinical genetics, epidemiology, bioinformatics, statistics, and gene biology. Specifically, we will use state-of-the art DNA screening to evaluate all suspected breast cancer genes in a large sample of breast cancer cases and controls. We will then use in silico and in vitro functional analyses to evaluate the likely pathogenicity o
Related publications (3)
Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry
Tu Nguyen-Dumont, James G Dowty, Jason A Steen, Anne-Laure Renault, Fleur Hammet, Maryam Mahmoodi, Derrick Theys, Amanda Rewse, Helen Tsimiklis, Ingrid M Winship, Graham G Giles, Roger L Milne, John L Hopper, Melissa C Southey
Case-control studies of breast cancer have consistently shown that pathogenic variants in CHEK2 are associated with about a 3-fold..
VTRNA2-1: Genetic Variation, Heritable Methylation and Disease Association
Pierre-Antoine Dugue, Chenglong Yu, Timothy McKay, Ee Ming Wong, Jihoon Eric Joo, Helen Tsimiklis, Fleur Hammet, Maryam Mahmoodi, Derrick Theys, John L Hopper, Graham G Giles, Roger L Milne, Jason A Steen, James G Dowty, Tu Nguyen-Dumont, Melissa C Southey
VTRNA2-1 is a metastable epiallele with accumulating evidence that methylation at this region is heritable, modifiable and associa..
Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer
Tu Nguyen-Dumont, Jason A Steen, Ingrid Winship, Daniel J Park, Bernard J Pope, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Derrick Theys, Mark Clendenning, Graham G Giles, John L Hopper, Melissa C Southey
The advent of gene panel testing is challenging the previous practice of using clinically defined cancer family syndromes to infor..