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DNA methylation in breast cancer - Telling us something new?.
March 2011
A recent collaborative study between the MRC Human Genetics Unit, Edinburgh Cancer Research Centre and the Breakthrough Breast Cancer Research Unit suggests that a process called DNA methylation could discriminate between different types of breast cancer and so help doctors to work out which treatment each individual patient would most benefit from. The research is published in the journal Proceedings of the National Academy of Sciences (PNAS).
Cells in the human body have a system that allows them to recognise whether gene is switched on or off.
This system is known as epigenetics; it allows cells with identical DNA, for example two cells within the same person, to become different types of cells, for example a liver or brain cell .
In many types of cancer there are widespread changes in the cells in one part of this system, known as DNA-methylation.
It was believed that these alterations could contribute to the growth of tumours by inactivating and therefore disabling genes.
In the study, Dr Duncan Sproul, Dr Colm Nestor and colleagues (Sproul et al. PNAS, Early Edition) have found that much of the abnormal gene-associated DNA methylation that occurs in breast cancer does not turn off genes. Instead it happens at genes that are already off in normal breast tissue, meaning that it doesn't disable the genes affected.
While these findings mean that proposed epigenetic treatments, meant to re-activate methylated genes, are unlikely to be effective, they may also lead to new ways in which to identify different types of breast cancer.
Dr Sproul said:
"Our results show that specific genes are marked by methylation in different types of breast cancer and suggest the exciting possibility that these aberrant marks can aid diagnosis by revealing the type of tumour a patient has."
Because different types of breast cancer respond to different treatments, such information would aid doctors in matching patients to treatments.
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Dr Richard Mort wins grant from Medical Research Scotland.
March 2011
Dr Richard Mort of the Medical & Developmental Genetics group a the MRC Human Genetics Unit (HGU) in Edinburgh has been awarded £148,872 by Medical Research Scotland for a three-year research project grant. Dr Mort will collaborate with Professor Ian Jackson from the same HGU team and Dr Kevin Painter from Mathematics at Heriot-Watt University. Their research will seek to explain how the abnormal development of neural crest cells (NCCs) is causal in a range of human birth defects. NCCs contribute to a diverse range of tissues including facial bone and muscle, the skin, neurons and glia.
One in 3,000 babies born in the UK are diagnosed with a condition called neurofibromatosis type 1 (Nf1) that can affect the health of their skin and bone cells and increase their risk of developing cancers of the nervous system. More than 95% of children diagnosed with Nf1 also have pigmentary defects most commonly in the form of regions of hyperpigmentation. Conversely patients with piebaldism, another congenital condition, suffer from hypopigmentation of hair and skin. Pigment cells are a subtype of neural crest stem cells, the migration of these cells during embryonic development is a fundamental development process. The project will use a unique integration of live imaging and mathematical modelling to explain NCC behaviour in these and related disorders.
Links
- Medical Research Scotland
- Dr Ian Jackson: Medical and Developmental Genetics MRC Human Genetics Unit


