BRCA1/2 expression in breast tumours

Status: Complete
Year: 2019
Funded: $100,000
Grant Type: Major Project Grant

One in nine women will develop breast cancer within their lifetime, equating to around 3,000 New Zealanders annually.

Previous research has indicated that around 5-10% of these people carry genetic variants that can be used to guide patient management, directing their clinical care to the most effective treatment options and lowering the individual risk of recurrence. At least 10% additional patients carry genetic changes referred to as variants of unknown clinical significance. There is a lot of uncertainty around whether these variants increase risk of disease or not. Current classification tools have been unable to obtain the evidence required to confirm or rule out pathogenicity for the majority of these variants. BaseScope is a novel technology that allows gene expression to be observed in single cells.

This study will determine whether this new technology can be used diagnostically to identify people who carry genetic variants that are associated with an increased risk of breast cancer. A key outcome from this proposal may be the development of an innovative genomic-based method for evaluating genetic changes responsible for cancer and other inherited diseases.

Researcher // Dr Vanessa Lattimore – University of Otago

Christchurch PhD candidate Dr 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. This makes her PhD project looking at BRAC1/BRAC2 genetic screening both intellectually stimulating and personally rewarding.

More About Dr Vanessa Lattimore

What is breast cancer?

Breast Cancer is the uncontrolled growth of abnormal breast cells. Breast Cancer is not caused by a bacteria or a virus and is not contagious. Normally cells are created, grow and die in a controlled way. However, when abnormal changes occur in the genes which usually regulate this orderly process, normal gene function can be turned on or off. Damaged cells are then able to keep growing and dividing and a tumour is formed. A tumour in the breast can be benign (usually not life-threatening) or malignant (cancerous). Although a benign tumour may cause problems as it grows, it does not spread to other parts of the body. On the other hand, a malignant tumour does have the potential to grow and spread to form secondary tumours. When this happens, it’s called advance, metastatic or secondary breast cancer.

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3,300 women are diagnosed with breast cancer each year in New Zealand.
Women diagnosed daily in New Zealand, 1 will be Maori.
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Will be aged 50+ at time of diagnosis.
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Survival rate if cancer detected by regular mammogram.

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