Associated Genetic Biomarkers

Overview

NCI Definition: A malignant epithelial tumor arising from the esophageal mucosa. Two major histologic types of esophageal carcinoma have been described: squamous cell carcinoma and adenocarcinoma. This type of cancer is associated with excessive ethanol and cigarette usage. [1]

Esophageal carcinomas most frequently harbor alterations in TP53, CDKN2A, ERBB2, KRAS, and ARID1A [2].

Most Commonly Altered Genes in Esophageal Carcinoma

TP53 Mutation, TP53 Missense, TP53 c.217-c.1178 Missense, TP53 Exon 8 Mutation, and TP53 Exon 5 Mutation are the most common alterations in esophageal carcinoma [2].

Top Alterations in Esophageal Carcinoma

Significant Genes in Esophageal Carcinoma

ABL1 +

ALK +

ARID1A +

ATM +

ATR +

ATRX +

BARD1 +

BRAF +

BRCA1 +

BRCA2 +

BRIP1 +

C11ORF30 +

CCND1 +

CCND2 +

CCND3 +

CCNE1 +

CCNE2 +

CDK12 +

CDK2 +

CDK4 +

CDK6 +

CDKN1A +

CDKN1B +

CDKN2A +

CHEK1 +

CHEK2 +

DDR2 +

EGFR +

EPHA2 +

ERBB2 +

ERBB4 +

ERCC2 +

ERCC3 +

ERCC4 +

ERCC5 +

ERCC6 +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

FGF19 +

FGF4 +

FGFR1 +

FGFR2 +

FLT1 +

FLT4 +

FRK +

HDAC1 +

HDAC2 +

HRAS +

KDR +

KIT +

KRAS +

MAP2K1 +

MAP2K2 +

MAP2K3 +

MAP2K4 +

MAP2K5 +

MAP2K6 +

MAP2K7 +

MAPK1 +

MAPK11 +

MAPK3 +

MCPH1 +

MDM2 +

MDM4 +

MLF1 +

MLH1 +

MLH3 +

MRE11A +

MSH2 +

MSH3 +

MSH6 +

MUTYH +

NBN +

NPM1 +

NRAS +

PALB2 +

PARP1 +

PARP2 +

PDGFRA +

PDGFRB +

PMS1 +

PMS2 +

POLE +

PPP2R1A +

PPP2R2A +

PTEN +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RAD54L +

RAF1 +

RB1 +

RET +

SLX4 +

SMARCB1 +

STAG2 +

STK11 +

TEK +

TNFRSF10B +

TP53 +

TRNAK2 +

VEGFA +

VEGFB +

VEGFC +

XRCC1 +

Disease Details

Synonyms
Cancer of Esophagus, Esophageal Cancer, Esophageal cancer, NOS, Adenocarcinoma c/w Esophageal Primary, Carcinoma of the Esophagus, Cancer of the Esophagus, Esophagus Carcinoma, Esophagus carcinoma (NOS), Carcinoma of Esophagus
Parent(s)
Malignant Esophageal Neoplasm
Children
Esophageal Mucoepidermoid Carcinoma, Esophageal Poorly Differentiated Carcinoma, Esophageal Neuroendocrine Carcinoma, Esophageal Squamous Cell Carcinoma, Esophageal Adenoid Cystic Carcinoma, Esophageal Adenocarcinoma, Esophageal Undifferentiated Carcinoma, and Esophageal Adenosquamous Carcinoma

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 8. 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.