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Popular press review of "The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma"
Melanoma is a rare, but very serious skin cancer that affects more and more people every year. The cancer is complicated and can develop as a result of a combination of genetic and environmental factors. It has been known for a while now by the science community that the gene most often associated with familial melanoma cases is located on chromosome 9, and is called CDKN2A. Interestingly, however, there have been a number of familial melanoma cases that are associated with the same area of chromosome 9, but do not correlate to small, previously known mutations of the gene CDKN2A. The authors of this paper sought to find out if some families affected by melanoma have different kinds of large deletions at the chromosome location of the CDKN2A gene that were not known to be associated with familial melanoma.
The authors' research on families affected by melanoma led to the identification of a large mutation, or change, in the CDKN2A gene. This discovery shows that there are different kinds mutations of the CDKN2A gene that result in melanoma. After studying various families around the world affected with melanoma, it has been found that this gene is not always problematic in familial melanoma cases. This indicates that there are more genes associated with a higher familial risk of developing melanoma than are currently understood. These additional genes may be located on the same chromosome as CDKN2A or different chromosomes. With that being said, loss of normal CDKN2A function continues to be the most important gene associated with the occurrence of melanoma in families.
To read the full article, please click below to download the file.
The authors' research on families affected by melanoma led to the identification of a large mutation, or change, in the CDKN2A gene. This discovery shows that there are different kinds mutations of the CDKN2A gene that result in melanoma. After studying various families around the world affected with melanoma, it has been found that this gene is not always problematic in familial melanoma cases. This indicates that there are more genes associated with a higher familial risk of developing melanoma than are currently understood. These additional genes may be located on the same chromosome as CDKN2A or different chromosomes. With that being said, loss of normal CDKN2A function continues to be the most important gene associated with the occurrence of melanoma in families.
To read the full article, please click below to download the file.
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References
Lesueur, F et al. (2008). The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma. British Journal of Cancer. 99(2), 364-70. doi: 10.1038/sj.bjc.6604470
Lesueur, F et al. (2008). The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma. British Journal of Cancer. 99(2), 364-70. doi: 10.1038/sj.bjc.6604470