Associated Genetic Biomarkers

Overview

NCI Definition: A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. [1]

Melanomas most frequently harbor alterations in BRAF, CDKN2A, NRAS, TP53, and NF1 [2].

Most Commonly Altered Genes in Melanoma

BRAF Mutation, BRAF Exon 15 Mutation, BRAF Codon 600 Missense, NRAS Mutation, and BRAF V600E are the most common alterations in melanoma [2].

Top Alterations in Melanoma

Biomarker-Directed Therapies

Significant Genes in Melanoma

ABL1 +

ABL2 +

ACVR1B +

AKT1 +

AKT2 +

AKT3 +

ALK +

APC +

ARAF +

ARID1A +

ARID1B +

ARID2 +

ASXL1 +

ATM +

ATR +

BAP1 +

BARD1 +

BCR +

BLM +

BRAF +

BRCA1 +

BRCA2 +

BRIP1 +

BTRC +

C11ORF30 +

CCND1 +

CDK12 +

CDK4 +

CDK6 +

CDKN1A +

CDKN1B +

CDKN2A +

CHD4 +

CHEK1 +

CHEK2 +

CRKL +

CSF1R +

CYLD +

CYSLTR2 +

DICER1 +

DNMT3A +

DVL1 +

EGFR +

EPCAM +

ERBB2 +

ERBB3 +

ERCC3 +

EXO1 +

EZH2 +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

FGFR1 +

FGFR2 +

FGFR3 +

FLT1 +

FLT3 +

FLT4 +

FZD1 +

FZD10 +

FZD2 +

FZD3 +

FZD4 +

FZD5 +

FZD6 +

FZD7 +

FZD8 +

FZD9 +

GATA3 +

GNA11 +

GNAQ +

HDAC2 +

HGF +

HRAS +

IDH1 +

IRS2 +

KDM6A +

KDR +

KEAP1 +

KIT +

KMT2D +

KRAS +

LIG3 +

LIG4 +

LRP5 +

LRP6 +

MAGI2 +

MAP2K1 +

MAP2K2 +

MAP2K4 +

MAP3K1 +

MAPK1 +

MCPH1 +

MDC1 +

MED12 +

MET +

MLH1 +

MLH3 +

MRE11A +

MSH2 +

MSH3 +

MSH6 +

MST1R +

MTOR +

MYC +

MYCN +

NBN +

NF1 +

NF2 +

NOTCH1 +

NOTCH2 +

NRAS +

NRG1 +

NSD1 +

NTRK1 +

NTRK2 +

NTRK3 +

PALB2 +

PARP1 +

PCNA +

PDGFRA +

PDGFRB +

PIK3C2B +

PIK3CA +

PIK3CB +

PIK3CG +

PIK3R1 +

PIK3R2 +

PLCB4 +

PMS1 +

PMS2 +

POLD1 +

POLE +

PRKDC +

PTCH1 +

PTEN +

PTPN11 +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RAD54B +

RAF1 +

RB1 +

RET +

RFC1 +

RFC2 +

RFC3 +

RFC4 +

RFC5 +

RICTOR +

RNF43 +

ROS1 +

RPA1 +

RPA2 +

RPA3 +

RPA4 +

RPTOR +

RSPO1 +

RUNX1 +

SETD2 +

SHFM1 +

SLX4 +

SMARCA4 +

SMO +

SOX9 +

SRC +

SSBP1 +

STAG2 +

STK11 +

TAF1 +

TBX3 +

TET2 +

TP53 +

TSC1 +

TSC2 +

VHL +

WNT1 +

XPO1 +

XRCC6 +

Disease Details

Synonyms
MELANOMA, MALIGNANT, Malignant Melanoma
Parent(s)
Malignant Solid Tumor
Children
Ocular Melanoma, Non-Cutaneous Melanoma, Hereditary Melanoma, Epithelioid Cell Melanoma, Amelanotic Melanoma, Breast Melanoma, Melanoma of Unknown Primary, Metastatic Melanoma, Cutaneous Melanoma, Melanomatosis, and Spindle Cell Melanoma
OncoTree Name
Melanoma
OncoTree Code
MEL

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.