11.01.2016

Genetic mutation "boosts eye cancer risk"

Genetic mutation "boosts eye cancer risk"

Research has identified a genetic factor that can contribute to the development of melanoma of the eye.
 
A team at the University of Hawaii"s Cancer Center have narrowed the cause down to a mutation of a gene called BAP1, which it discovered also plays a role in the development of mesothelioma.
 
The research, which was published in Nature Genetics, has identified the susceptibility - which is exacerbated by exposure to fibres of asbestos or similar minerals.
 
It examined two families that experienced a heightened incidence of the two cancers and associated this with the genetic mutation.
 
Dr Michele Carbone, study leader and director of the cancer centre, said that identification is one of the best was to help people cope with these cancers and that this advance could be an important leap towards this.
 
She said: "This discovery is a first step in understanding the role of the BAP1 gene and its potential utility when screening for mutations in those at high risk."
 
Dr Joseph Testa, another co-leader of the study, suggested that those suffering from the rare uveal melanoma tumour will be the main beneficiaries, as well as their families and those at risk.
 
He also warned that those who had developed this eye tumour should also be aware of the risk that they might later develop mesothelioma, which many sufferers die from within 12 months after their diagnosis.
 
Dr Donald Blair highlighted the importance of in-depth analysis of genetic codes to succesfully identifing eye illnesses.
 
He said: "The discovery that the BAP1 gene is involved in a new cancer syndrome characterised especially by uveal melanoma and mesothelioma provides yet another example of the critical importance of the detailed genetic analysis of human tumours"
 
According to the Macmillan Trust, uveal melonama is the most common ocular melonoma and can occur in the choroid, ciliary body or iris.
 
While ocular cancers are rare, this type is the most common and occurs on average 500 times in the UK each year, with the majority of cases occurring in the over-50s.
 
The disease is most often diagnosed by an optician during an eye test and can be detected even where there are no symptom.

by Emily Tait


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