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 NOTCH1 [2].

Most Commonly Altered Genes in Esophageal Carcinoma

TP53 Mutation, TP53 Missense, TP53 c.217-c.1178 Missense, CDKN2A Mutation, and ERBB2 Amplification 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
Carcinoma of the Esophagus, Carcinoma of Esophagus, Esophageal cancer, NOS, Cancer of Esophagus, Cancer of the Esophagus, Esophagus Carcinoma, Esophagus carcinoma (NOS), Esophageal Cancer
Parent(s)
Malignant Esophageal Neoplasm
Children
Esophageal Neuroendocrine Carcinoma, Esophageal Small Cell Neuroendocrine Carcinoma, Esophageal Adenoid Cystic Carcinoma, Esophageal Adenosquamous Carcinoma, Esophageal Squamous Cell Carcinoma, Esophageal Adenocarcinoma, Esophageal Mucoepidermoid Carcinoma, and Esophageal Poorly Differentiated 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 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.