BRA-STRAP: Brca Refined Analysis of Sequence Tests: Risk And Penetrance
Supervisors: Prof Melissa Southey, Dr Tu Nguyen-Dumont
Since 1997, genetic testing of the BRCA1 and BRCA2 genes has been offered to selected women attending clinical genetics services throughout Australia. For the vast majority of women (~80%) these tests are uninformative as they do not identify a mutation in either of these genes.
Continued research has identified additional breast cancer susceptibility genes and today commercial and public diagnostic testing facilities are including a larger number of “breast cancer susceptibility genes” in a single test, at considerably reduced cost. However, these gene panel tests pose considerable challenge to clinical genetic services, as very little is known about the cancer risks associated with almost all of the observed genetic variation.
To address this issue we have launched BRA-STRAP, a study funded by the Australian National Breast Cancer Foundation, which aims to determine the risk and penetrance of variants in genes that are included on these “Breast Cancer Panels”.
This project will involve classifying the pathogenicity of genetic variants identified in genes that are demonstrated to be breast cancer predisposition genes. A number of different approaches will be undertaken including empirical and functional approaches that can contribute important data to multifactorial models of risk prediction.
This work will enable rare variants in these genes to be used in clinical genetics services to improve the management of women and their families who carry these rare genetic variants.
Skills and techniques: This project could utilise massively parallel sequencing, expression profiling, functional assays, IHC, bioinformatics, histopathology, somatic mutation testing, cell biology, biochemistry.
Key Words: breast cancer, oncogenomics, familial cancer, heritable cancer risk, bioinformatics, data integration, clinical genetics, genomics, molecular oncology, cancer cell biology, genetic counselling.
Target Students: Honours, PhD/postgraduate.