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Do missense variants in PALB2 predispose to breast cancer?

Description 
PALB2 plays a role in homologous recombination repair of DNA double-strand damage. Loss-of-function germline variants in PALB2 are associated with a substantially increased risk of breast cancer. Until very recently there has been no evidence to suggest that missense variants in PALB2 were associated with risk of breast cancer. Functional assays have now demonstrated that a small subset of missense variants in PALB2 have an impact on the protein function. Using genetic data from 15,000 Australian women who are participating in the BRA-STRAP study this project will investigate if we can demonstrate if this subgroup of PALB2 genetic variants is associated with breast cancer risk and if there is evidence of homologous recombination dysfunction in the corresponding breast cancer tissue. This project is linked to local and internationally coordinated studies of cancer risk associated with PALB2 genetic variants including those supported by the PALB2-interest Group (University of Cambridge).
Essential criteria: 
Minimum entry requirements can be found here: https://www.monash.edu/admissions/entry-requirements/minimum
Keywords 
Breast Cancer, PALB2, familial cancer, cancer risk, cancer prevention
School 
School of Clinical Sciences at Monash Health / Hudson Institute of Medical Research » Medicine - Monash Medical Centre
Available options 
PhD/Doctorate
Masters by research
Honours
BMedSc(Hons)
Time commitment 
Full-time
Part-time
Physical location 
Monash Medical Centre Clayton
Co-supervisors 
Dr 
Tu Nguyen-Dumont

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