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CHEK2 genetic variants and breast cancer predisposition – which variants are clinically relevant?

CHEK2 is an established breast cancer predisposition gene. Pathogenic variants in CHEK2 are associated with a 3-fold increased risk of breast cancer and estimated to have a penetrance (age-specific cumulate risk of breast cancer) of 33% (95% CI 21-48%) to age 80 years. Gene panel testing for breast cancer susceptibility is now routine in clinical cancer genetics services. CHEK2 is routinely included on these gene panels but much of the genetic variation identified is uninterpretable in terms of association with breast cancer risk. Significant challenges still remain in classifying which genetic variants identified in CHEK2 are pathogenic. Using genetic data from gene panel sequencing that has involved 15,000 Australian women participating in the BRA-STRAP study, this project will further investigate which genetic variants in CHEK2 are associated with breast cancer risk. The study will involve further investigation of women and their families who carry these genetic variants and include an integrated approach involving segregation analyses, molecular pathology assessment of the breast tumours and risk assessment via a number of analytical approaches. This project will work closely with national and international efforts in this area including the nations Familial Cancer Centres and the ENIGMA consortium (
Essential criteria: 
Minimum entry requirements can be found here:
Breast Cancer, Familial Cancer, CHEK2, Cancer Predisposition, Clinical Translation.
School of Clinical Sciences at Monash Health / Hudson Institute of Medical Research
Available options 
Masters by research
Time commitment 
Top-up scholarship funding available 
Physical location 
Monash Medical Centre Clayton
Tu Nguyen-Dumont

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