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Melanoma/Skin Cancer Health Center

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Genetics of Skin Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Changes to This Summary (10 / 09 / 2014)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.


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Revised text to state that some debate remains about the origin of squamous cell carcinoma (SCC); however, these cancers are likely derived from epidermal stem cells associated with the hair follicle (cited Lapouge et al. as reference 4).

Basal Cell Carcinoma (BCC)

Added text to state that in addition to its effects on the prevention of BCCs in patients with basal cell nevus syndrome (BCNS), vismodegib may also have a palliative effect on keratocystic odontogenic tumors (KCOTs) found in this population; an initial report indicated that the use of GDC-0449, the hedgehog pathway inhibitor now known as vismodegib, resulted in resolution of KCOTs in one patient with BCNS (cited Goldberg et al. as reference 152). Also added text to state that another small study found that four of six patients who took 150 mg of vismodegib daily had a reduction in the size of KCOTs (cited Ally et al as reference 153).

Added level of evidence 3diii.


Added text to state that collectively, over 600 unique mutations in ocular albinism-related genes have been identified.


Added POT1 as a new subsection.

Add text to state that three Latvian families with melanoma have a R24H substitution in the CDK4 gene arising on the same haplotype, which suggests that it could be a founder mutation in this population (cited Veinalde et al. as reference 113).

Added Aoude et al. as reference 126.

Added text to state that a study found six individuals with the E318K variant in the MITF gene in a cohort of 168 individuals with melanoma; no unaffected controls carried the variant; individuals with the E318K variant were more likely to be fair skinned, with high nevus counts and high freckling scores, and all had multiple primary melanomas (cited Sturm et al. as reference 151); there was also a high frequency of amelanotic melanomas.

This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ NCI's Comprehensive Cancer Database pages.

    This information is produced and provided by the National Cancer Institute (NCI). The information in this topic may have changed since it was written. For the most current information, contact the National Cancer Institute via the Internet web site at http:// cancer .gov or call 1-800-4-CANCER.

    WebMD Public Information from the National Cancer Institute

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.
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