Christchurch PhD candidate Vanessa Lattimore has a strong history of breast cancer in her family. Three of five sisters in her family tree either suffered from or died of breast cancer.
That makes her PhD project looking at BRAC1/BRAC2 genetic screening both intellectually stimulating and personally rewarding.
“I wanted to do postgraduate study in genetics and especially in the field of health so my work could help people.’’
Vanessa says routine genetic screening is typically done for individuals from high-risk breast-ovarian families to try and identify BRCA1/BRCA2 gene variations known to increase risk.
However as many as a quarter of these test results reveal a DNA sequence variant with unknown clinical significance. These ‘unclassified genetic variants’ cause considerable difficulties for patients as the results do not clearly indicate whether they should take the necessary precautions, such as a mastectomy.
Vanessa is studying the impact of some unknown genetic variants on an important genetic process called ‘mRNA splicing’ and the use of cutting-edge molecular tools to accurately measure this genetic process.
She is being supervised by members of the Mackenzie Cancer Research Group; Dr Logan Walker, Dr Margaret Currie and Professor Bridget Robinson. The Mackenzie Cancer Research Group is part of an international network of geneticists known as ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles). This means Vanessa has access to, and can contribute to, a huge database of genetic variants from patients around the world, broadening the reach of her work.