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Genetic clues to a self-healing skin cancer discovered by scientists

14 March 2011
Appeared in BioNews 599

An international collaborative team, including Cancer Research UK scientists from the University of Dundee, has uncovered the genetic cause of a rare type of skin cancer. The condition called Ferguson-Smith disease, is also known as multiple self-healing squamous epithelioma (MSSE) and causes multiple small skin tumours to grow rapidly and then spontaneously heal, leaving scars.

The researchers analysed the DNA of 60 individuals with MSSE from 18 different families and 110 of their unaffected relatives and discovered that the disease is caused by a fault in the TGFBR1 gene.

TGFBR1 produces a receptor protein that allows healthy cells to receive signals from neighbouring cells and normally functions to prevent the growth of early tumours. However, when an inherited fault is present the gene loses this function allowing growth to continue unchecked, which leads to the development of multiple small skin tumours. Then at some stage in the progression of the tumour, a 'signalling switch' occurs and tumours that lack TGFBR1 heal themselves. However, scientists are still unclear how this process occurs.

Dr David Goudie, one of the scientists involved in the research at the College of Medicine, Dentistry and Nursing, University of Dundee said: 'The unusual behaviour of this tumour has baffled scientists for about 40 years so we're excited to have discovered the genetic faults that cause this disease. The gene we've identified controls part of a cell signalling pathway, which is faulty in many cancers. We hope that by shedding light on how one rare cancer manages to heal itself we'll understand more about what goes wrong in other types of tumours'.

He added that understanding how tumours that lack TGFBR1 behave will help us to predict the clinical effects of drugs that target these signals.

Dr Lesley Walker, director of cancer information at Cancer Research UK, said: 'This intriguing research provides an important insight into the various ways that cellular machinery can get messed up, which can then cause different types of cancer. The pace of progress in cancer research is accelerating every year - enabling us to develop better ways to detect, monitor and treat the disease. This piece of research is another step moving ever closer to our vision of beating cancer'.

The study was published in Nature Genetics.

Genetic find holds clue to curing skin cancer
Scotsman |  28 February 2011
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1
Nature Genetics |  27 February 2011
Scientists discover cause of rare skin cancer that heals itself
Cancer Research UK Press Release |  27 February 2011
Scientists discover cause of rare skin cancer that heals itself
Daily Telegraph |  27 February 2011
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