Medical Knowledge Cockpit melanoma, cutaneous malignant

• Melanoma
  Homo sapiens (human) 3 genes

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• Cell cycle
  Homo sapiens (human) 2 genes

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• Pancreatic cancer
  Homo sapiens (human) 2 genes

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MITF

Somatic tumors

melanoma

Tumor types germline

Cancer Syndrom

Translocation partner

Name

melanogenesis-associated transcription factor

Chromosome banding

3p14.1

Cancer molecular gen.

Dom

Mutation type

A

Other syndrome disease

Waardenburg syndrome type 2, Tietz syndrome

CDK4

• Subunit rearrangement of the cyclin-dependent kinases is associated with cellular transformation
• Regulation of CDK4 activity by a novel CDK4-binding protein, p34(SEI-1)

MC1R

• Melanocortin-1 receptor gene variants affect pain and mu-opioid analgesia in mice and humans
• Involvement of the melanocortin-1 receptor in acute pain and pain of inflammatory but not neuropathic origin
• Anesthetic requirement is increased in redheads
• Increased sensitivity to thermal pain and reduced subcutaneous lidocaine efficacy in redheads
• Melanocortins contribute to sequential differentiation and enucleation of human erythroblasts via melanocortin receptors 1, 2 and 5

XRCC3

• Correction of chromosomal instability and sensitivity to diverse mutagens by a cloned cDNA of the XRCC3 DNA repair gene

TERT

• InTERTesting association between telomerase, mTOR and phytochemicals
• Telomere shortening and apoptosis in telomerase-inhibited human tumor cells
• Telomerase reverse transcriptase locus polymorphisms and cancer risk: a field synopsis and meta-analysis
• Cytotoxic T cell immunity against telomerase reverse transcriptase in humans
• Dendritic cells reconstituted with human telomerase gene induce potent cytotoxic T-cell response against different types of tumors

• The telomerase catalytic subunit is a widely expressed tumor-associated antigen recognized by cytotoxic T lymphocytes

TYR

• Novel MITF targets identified using a two-step DNA microarray strategy
• Interaction of sesamol (3,4-methylenedioxyphenol) with tyrosinase and its effect on melanin synthesis

MITF

• Novel MITF targets identified using a two-step DNA microarray strategy
• BCL2 regulation by the melanocyte master regulator MITF modulates lineage survival and melanoma cell viability
• VMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE family
• Microphthalmia-associated transcription factor is a critical transcriptional regulator of melanoma inhibitor of apoptosis in melanomas
• Critical role of CDK2 for melanoma growth linked to its melanocyte-specific transcriptional regulation by MITF