RNA isoform profiling of breast cancer susceptibility genes

Status: Complete
Funded: $40,000

Routine diagnostic BRCA1 and BRCA2 gene screening for deleterious mutations is typically performed for individuals from suspected high-risk breast-ovarian cancer families to identify the genetic cause for their disease. However, for most women with breast and ovarian cancer, the genetic changes contributing to their disease remain poorly understood.

High-throughput genomic technologies are now being adopted by diagnostic laboratories worldwide, enabling mutation screening of BRCA1 and BRCA2, and other cancer related genes in a greater number of people. Determining the clinical meaning of newly discovered genetic changes will be a central challenge facing the future of genomic medicine.

We will apply two powerful new technologies to measure the expression behavior of BRCA1 and BRCA2 activity in breast tumours from patients with and without a strong family history of cancer. Our proposal will assess if the inherited mutation status of these genes disrupts their behavior. Furthermore, our proposal will generate the first comprehensive gene expression profile of BRCA1 and BRCA2 in familial and non-familial breast tumours. The new knowledge derived from this proposal may facilitate the development of genomic-based protocols to evaluate genetic changes responsible for breast cancer and other inherited diseases.

Researcher // Dr Logan Walker – University of Otago

Dr Walker’s primary research is focused on understanding how genetic changes cause an increased risk of cancer and/or affect tumour pathology.

More About Dr Logan Walker

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