Breast Cancer Risk After Diagnostic Gene Sequencing (Bridges)

Grant number: 1101400 | Funding period: 2015 - 2021

Completed

Abstract

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 (6)

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RE: Heterozygous BRCA1 and BRCA2 and mismatch repair gene pathogenic variants in children and adolescents with cancer

S Li, T Nguyen-Dumont, MC Southey, JL Hopper

2023-06-01

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Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM

AL Renault, JG Dowty, JA Steen, S Li, IM Winship, GG Giles, JL Hopper, MC Southey, T Nguyen-Dumont

2022-12-01

Background: Multigene panel tests for breast cancer predisposition routinely include ATM as it is now a well-established breast ca..

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Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing

MC Southey, JG Dowty, M Riaz, JA Steen, AL Renault, K Tucker, J Kirk, P James, I Winship, N Pachter, N Poplawski, S Grist, DJ Park, BJ Pope, K Mahmood, F Hammet, M Mahmoodi, H Tsimiklis, D Theys, A Rewse

2021-12-01

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing are urgently..

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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

T Nguyen-dumont, JG Dowty, JA Steen, AL Renault, F Hammet, M Mahmoodi, D Theys, A Rewse, H Tsimiklis, IM Winship, GG Giles, RL Milne, JL Hopper, MC Southey

2021-03-02

Case-control studies of breast cancer have consistently shown that pathogenic variants in CHEK2 are associated with about a 3-fold..

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Vtrna2‐1: Genetic variation, heritable methylation and disease association

PA Dugué, C Yu, T McKay, EM Wong, JE Joo, H Tsimiklis, F Hammet, M Mahmoodi, D Theys, null Kconfab, JL Hopper, GG Giles, RL Milne, JA Steen, JG Dowty, T Nguyen‐dumont, MC Southey

2021-03-01

VTRNA2‐1 is a metastable epiallele with accumulating evidence that methylation at this region is heritable, modifiable and associa..

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Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer

T Nguyen-Dumont, JA Steen, I Winship, DJ Park, BJ Pope, F Hammet, M Mahmoodi, H Tsimiklis, D Theys, M Clendenning, GG Giles, JL Hopper, MC Southey

2020-07-01

The advent of gene panel testing is challenging the previous practice of using clinically defined cancer family syndromes to infor..

University of Melbourne Researchers