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Contact: Gemma Bradley
Skin cancer breakthrough
Gene explains why men are at higher risk of
Researchers from Germany have identified a gene that is associated
with an increased risk of suffering from skin cancer. The research, published this month in
Journal of Carcinogenesis, could also explain why men are more likely to suffer from malignant
melanoma than women.
Although most people associate
melanoma with exposure to UV light, through excessive sunbathing for example, the disease can be
inherited – indicating that faulty genes are also partly to blame. Genetic risk factors also
affect the likelihood of individuals suffering from non-inherited, or sporadic, melanoma.
To identify these risk factors, researchers from the University
Hospital in Tuebingen took blood samples from 450 healthy volunteers, and 500 people who had
been diagnosed with malignant melanoma, from which they could extract DNA. In collaboration with
Genefinder Technologies Ltd., Munich, Germany and Sequenom Inc., San Diego, USA, the researchers
studied the DNA samples, looking for slight differences in the genes between people with
melanoma skin cancer and people with no cancers at all. To do this they screened more than
25,000 sites across the whole genome, which are known to vary naturally between different
The researchers identified a gene called BRAF that contains
several sites of natural variation. Some variants were more likely to be found in people who
suffered from melanoma than in those that did not. But, when the data was separated by sex, it
appeared that the variants only conferred a higher risk of suffering from melanoma on men who
At present, men have a 1 in 58 chance, and women a 1 in 82
chance of developing the disease in their lifetime. The researchers write: "BRAF may be one
explanation of why males have an increased lifetime incidence of melanoma compared to females".
Until now, the best-known risk factor for melanoma was if you
had a mutated copy of the gene CDKN2A. This gene could explain about 25% of the inherited cases
of melanoma, which equates to about 1% of the total number of cases.
The risk associated with BRAF is much more significant. The
researchers write: "We estimate that BRAF could account for an attributable risk of developing
melanoma of approximately 4% in the German population. This risk estimate is much higher than
that attributed to CDKN2A."
Dr. Peter Meyer, the managing researcher of this study, said:
"It will be exciting to learn more about whether BRAF is also associated with melanoma-risk in
other populations with higher melanoma incidences like Australians."
The BRAF gene encodes a protein that activates the growth and
multiplication of cells. Recent studies have shown that mutations in BRAF, which cause the
protein to become more active, are commonly found in melanomas and moles. The variants that have
been identified in this study do not have any effects on the activity of the protein – how they
increase the risk of suffering from melanoma is currently unknown.
Professor Claus Garbe, the principal investigator of the
project said: "Moles are a major risk factor for the development of malignant melanoma. BRAF
mutations occur in the majority of melanomas but also in moles. We are therefore interested in
addressing the question of whether carrying certain variants of the BRAF gene could predispose
people to having or developing more moles, and thus to an increased risk of developing melanoma"
Dr. Goppala Kovvali, the Editor-in-chief of Journal of
Carcinogenesis said: "This article is an important contribution to the field of carcinogenesis.
I anticipate that several studies will be undertaken to investigate the BRAF gene in connection
with melanoma, especially in the United States and Australia where skin cancer is one of the
The incidence of malignant melanoma has rapidly increased in
recent years. It is the leading cause of death from skin disease, as once the cancer has spread
it is resistant to most available treatments.
This release is based on the following article:
Polymorphisms of the BRAF Gene Predispose Males to Malignant Melanoma Peter Meyer, Consolato
Sergi and Claus Garbe Journal of Carcinogenesis 2003, 2:7
Published 14 November 2003
For further information about this research please contact
Peter Meyer by email at Peter.Meyer@onkogenetik.de
or by phone on 49-89-43-57-98-33.
Alternatively, please contact Gemma Bradley by email at
firstname.lastname@example.org or by phone on
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