Disease:
Melanoma

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page.

Gene ? Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No VIP available VA HLA-DRB1 *07:01:01:01 N/A N/A N/A
rs12979860 NC_000019.10:g.39248147C>T, NC_000019.9:g.39738787C>T, NG_042193.1:g.1825G>A, NM_001276254.2:c.151-152G>A, NR_074079.1:n.429-152G>A, XM_011526757.1:c.-1595G>A
C > T
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names: 
Synonym
MM - Malignant melanoma; Malignant Melanoma; Malignant Melanomas; Malignant melanoma, no ICD-O subtype; Melanoma, Malignant; Melanoma, NOS; Melanomas; Melanomas, Malignant; Melanosarcoma
PharmGKB Accession Id: PA444903
External Vocabularies

Curated Information ?

Curated Information ?

Relationships from National Drug File - Reference Terminology (NDF-RT)

May Treat
Contraindicated With
No related diseases are available

Publications related to Melanoma: 32

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Pyrexia in dabrafenib-treated melanoma patients is not associated with common genetic variation or HLA polymorphisms. Pharmacogenomics. 2016. Kulkarni Diptee, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway. Nature genetics. 2015. Shain A Hunter, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Differential Activity of Nivolumab, Pembrolizumab and MPDL3280A according to the Tumor Expression of Programmed Death-Ligand-1 (PD-L1): Sensitivity Analysis of Trials in Melanoma, Lung and Genitourinary Cancers. PloS one. 2015. Carbognin Luisa, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Nras in melanoma: targeting the undruggable target. Critical reviews in oncology/hematology. 2014. Mandalà Mario, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Molecular pathways: targeting NRAS in melanoma and acute myelogenous leukemia. Clinical cancer research : an official journal of the American Association for Cancer Research. 2014. Johnson Douglas B, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The GIST of targeted therapy for malignant melanoma. Annals of surgical oncology. 2014. Bello Danielle M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
IL28B polymorphism cannot predict response to interferon alpha treatment in patients with melanoma. PloS one. 2014. Probst Martin, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Vemurafenib: targeted inhibition of mutated BRAF for treatment of advanced melanoma and its potential in other malignancies. Drugs. 2012. Sharma Anant, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetics and pharmacogenomics: role of mutational analysis in anti-cancer targeted therapy. The pharmacogenomics journal. 2012. Savonarola A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Vemurafenib (RG67204, PLX4032): a potent, selective BRAF kinase inhibitor. Future oncology (London, England). 2012. Patrawala Samit, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Combinations of BRAF, MEK, and PI3K/mTOR inhibitors overcome acquired resistance to the BRAF inhibitor GSK2118436 dabrafenib, mediated by NRAS or MEK mutations. Molecular cancer therapeutics. 2012. Greger James G, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Combinatorial therapies to overcome B-RAF inhibitor resistance in melanomas. Pharmacogenomics. 2012. Lo Roger S. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Improved survival with vemurafenib in melanoma with BRAF V600E mutation. The New England journal of medicine. 2011. Chapman Paul B, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A phase I study of the safety and tolerability of olaparib (AZD2281, KU0059436) and dacarbazine in patients with advanced solid tumours. British journal of cancer. 2011. Khan O A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PIK3CA mutations frequently coexist with RAS and BRAF mutations in patients with advanced cancers. PloS one. 2011. Janku Filip, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Targeted cancer therapies in the twenty-first century: lessons from imatinib. Clinical pharmacology and therapeutics. 2010. Stegmeier F, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A comprehensive catalogue of somatic mutations from a human cancer genome. Nature. 2010. Pleasance Erin D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Analysis of the tyrosine kinome in melanoma reveals recurrent mutations in ERBB4. Nature genetics. 2009. Prickett Todd D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DNA fingerprinting of the NCI-60 cell line panel. Molecular cancer therapeutics. 2009. Lorenzi Philip L, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanoma. Human mutation. 2008. Li Chunying, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC45A2: a novel malignant melanoma-associated gene. Human mutation. 2008. Fernandez L P, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population. Human mutation. 2008. Guedj Mickaël, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The NCI60 human tumour cell line anticancer drug screen. Nature reviews. Cancer. 2006. Shoemaker Robert H. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MC1R germline variants confer risk for BRAF-mutant melanoma. Science (New York, N.Y.). 2006. Landi Maria Teresa, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Expression of drug pathway proteins is independent of tumour type. The Journal of pathology. 2006. Zhang W, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. Journal of the National Cancer Institute. 2005. Landi Maria Teresa, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
XPD gene polymorphism and host characteristics in the association with cutaneous malignant melanoma risk. British journal of cancer. 2004. Baccarelli A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BRAF as a potential therapeutic target in melanoma and other malignancies. Cancer cell. 2003. Tuveson David A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Mutations of the BRAF gene in human cancer. Nature. 2002. Davies Helen, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Systematic variation in gene expression patterns in human cancer cell lines. Nature genetics. 2000. Ross D T, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Multidrug-resistant phenotype of disease-oriented panels of human tumor cell lines used for anticancer drug screening. Cancer research. 1992. Wu L, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Morphological and immunocytochemical characteristics of human tumor cell lines for use in a disease-oriented anticancer drug screen. Anticancer research. 1992. Stinson S F, et al. PubMed