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 c.217-c.1178 Missense, TP53 c.142-c.212 Missense, TP53 c.1-c.137 Missense, and TP53 Missense are the most common alterations in esophageal carcinoma [2].

Top Alterations in Esophageal Carcinoma

Significant Genes in Esophageal Carcinoma

ABL1 +

ALK +

BRAF +

CCND1 +

CCND2 +

CCND3 +

CCNE1 +

CCNE2 +

CDK2 +

CDK4 +

CDK6 +

CDKN1A +

CDKN1B +

CDKN2A +

DDR2 +

EGFR +

EPHA2 +

ERBB2 +

ERBB4 +

FGF19 +

FGF4 +

FGFR1 +

FGFR2 +

FLT1 +

FLT4 +

FRK +

KDR +

KIT +

KRAS +

MAPK11 +

MLH1 +

MLH3 +

MSH2 +

MSH3 +

MSH6 +

MYC +

PDGFRA +

PDGFRB +

PMS1 +

PMS2 +

RAF1 +

RB1 +

RET +

TEK +

TRNAK2 +

VEGFA +

VEGFB +

VEGFC +

Disease Details

Synonyms
Carcinoma of Esophagus, Esophageal cancer, NOS, Cancer of Esophagus, Carcinoma of the Esophagus, Esophageal Cancer, Cancer of the Esophagus, Esophagus Carcinoma
Parent(s)
Malignant Esophageal Neoplasm
Children
Esophageal Squamous Cell Carcinoma, Esophageal Adenosquamous Carcinoma, Esophageal Adenocarcinoma, Esophageal Poorly Differentiated Carcinoma, Esophageal Small Cell Neuroendocrine Carcinoma, Esophageal Neuroendocrine Carcinoma, Esophageal Adenoid Cystic Carcinoma, and Esophageal Mucoepidermoid 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 4. 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.