Assay development for a protein implicated in metastatic melanoma
Peroxidasin is a protein found in most tissues in the human body. Its physiological function was discovered only recently and so far its contribution to health... read more
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
// Prof Logan Walker – University of Otago
Logan is a cancer geneticist and the current Associate Dean Research, at the University of Otago Christchurch. His research focuses on understanding the impact of genetic changes on health. After completing post-doctoral training in Australia, and returning to the University of Otago, his research programme was significantly strengthened by being awarded a Sir Charles Hercus Health Research Fellowship (Health Research Council) followed by a Rutherford Discovery Fellowship (Royal Society Te Apārangi).
He is an invited member of several international groups tasked with improving protocols for genetic testing around the world. This work includes developing RNA diagnostic guidelines for both the clinical and research setting, and providing expert advice about the implementation of these guidelines and the interpretation of genetic test results. In collaboration with multiple international consortia, he has also contributed to and led some of the largest genetic association studies to discover inherited DNA copy number changes that increase or decrease susceptibility to cancer.