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A number of rare mutations, which often run in families, are known to greatly increase one's susceptibility to melanoma. One class of mutations affects the gene CDKN2A[disambiguation needed]. An alternative reading frame mutation in this gene leads to the destabilization of p53, a transcription factor involved in apoptosis and in fifty percent of human cancers. Another mutation in the same gene results in a non-functional inhibitor of CDK4, a [cyclin-dependent kinase] that promotes cell division. Mutations that cause the skin condition Xeroderma Pigmentosum (XP) also seriously predispose one to melanoma. Scattered throughout the genome, these mutations reduce a cell's ability to repair DNA. Both CDKN2A and XP mutations are highly penetrant[clarification needed].

Familial melanoma is genetically heterogeneous,[8] and loci for familial melanoma have been identified on the chromosome arms 1p, 9p and 12q. Multiple genetic events have been related to the pathogenesis (disease development) of melanoma.[9] The multiple tumor suppressor 1 (CDKN2A/MTS1) gene encodes p16INK4a - a low-molecular weight protein inhibitor ofcyclin-dependent protein kinases (CDKs) - which has been localised to the p21 region of human chromosome 9.[10]

Other mutations confer lower risk but are more prevalent in the population. People with mutations in the MC1R gene, for example, are two to four times more likely to develop melanoma than those with two wild-type (typical unaffected type) copies of the gene. MC1R mutations are very common; in fact, all people with red hair have a mutated copy of the gene.

Two-gene models of melanoma risk have already been created,[citation needed] and in the future, researchers hope to create genome-scale models that will allow them to predict a patient's risk of developing melanoma based on his or her genotype.

In addition to identifying high-risk patients, researchers want to identify high-risk lesions (abnormal area of tissue) within a given patient. Many new technologies, such as optical coherence tomography(OCT), are being developed to accomplish this. OCT allows pathologists to view 3-D reconstructions of the skin and offers more resolution than past techniques could provide. In vivoconfocal microscopy and fluorescently tagged antibodies are also proving to be valuable diagnostic tools.

Mutation of the MDM2 SNP309 gene is associated with increased risk of melanoma in younger women.[11

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Jolie Roob

Lvl 10
4y ago

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