Associated Genetic Biomarkers

Overview

NCI Definition: A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. [1]

Colorectal carcinomas most frequently harbor alterations in TP53, APC, KRAS, PIK3CA, and SMAD4 [2].

Most Commonly Altered Genes in Colorectal Carcinoma

TP53 Mutation, APC Mutation, TP53 Missense, TP53 c.217-c.1178 Missense, and KRAS Mutation are the most common alterations in colorectal carcinoma [2].

Top Alterations in Colorectal Carcinoma

Biomarker-Directed Therapies

Significant Genes in Colorectal Carcinoma

ABL2 +

ACVR1B +

AKT1 +

AKT2 +

AKT3 +

ALK +

APC +

ARAF +

ARID1A +

ASXL1 +

ATM +

ATR +

ATRX +

BARD1 +

BLM +

BRAF +

BRCA1 +

BRCA2 +

BRIP1 +

BTRC +

C11ORF30 +

CCND1 +

CCND2 +

CCND3 +

CCNE1 +

CCNE2 +

CDK12 +

CDK2 +

CDK4 +

CDK6 +

CDKN1A +

CDKN1B +

CDKN2A +

CHD4 +

CHEK1 +

CHEK2 +

CRKL +

CSF1R +

CTNNB1 +

CYLD +

DICER1 +

DNMT3A +

DVL1 +

EGFR +

EPCAM +

ERBB2 +

ERBB3 +

ERCC2 +

ERCC3 +

ERCC4 +

ERCC5 +

ERCC6 +

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 +

HDAC1 +

HDAC2 +

HGF +

HRAS +

IDH1 +

IRS2 +

KDM6A +

KDR +

KEAP1 +

KIT +

KMT2D +

KRAS +

LRP5 +

LRP6 +

MAGI2 +

MAP2K1 +

MAP2K2 +

MAP2K3 +

MAP2K4 +

MAP2K5 +

MAP2K6 +

MAP2K7 +

MAP3K1 +

MAPK1 +

MAPK3 +

MCPH1 +

MDM2 +

MDM4 +

MED12 +

MET +

MLF1 +

MLH1 +

MLH3 +

MRE11A +

MSH2 +

MSH3 +

MSH6 +

MST1R +

MTOR +

MUTYH +

MYC +

NBN +

NF1 +

NF2 +

NOTCH1 +

NOTCH2 +

NPM1 +

NRAS +

NRG1 +

NSD1 +

NTRK1 +

NTRK2 +

NTRK3 +

PALB2 +

PARP1 +

PARP2 +

PCNA +

PDGFRA +

PDGFRB +

PIK3C2B +

PIK3CA +

PIK3CB +

PIK3CG +

PIK3R1 +

PIK3R2 +

PMS1 +

PMS2 +

POLD1 +

POLE +

PPP2R1A +

PPP2R2A +

PRKCA +

PRKCB +

PRKCD +

PRKCE +

PRKCG +

PRKCI +

PRKCQ +

PRKCZ +

PTCH1 +

PTEN +

PTPN11 +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RAD54L +

RAF1 +

RB1 +

RET +

RFC1 +

RFC2 +

RFC3 +

RFC4 +

RFC5 +

RICTOR +

RNF43 +

ROS1 +

RPA1 +

RPA2 +

RPA3 +

RPA4 +

RPTOR +

RSPO1 +

RUNX1 +

SETD2 +

SLX4 +

SMARCA4 +

SMARCB1 +

SOX9 +

SRC +

SSBP1 +

STAG2 +

STK11 +

TAF1 +

TBX3 +

TET2 +

TP53 +

TSC1 +

TSC2 +

VHL +

WNT1 +

XPO1 +

XRCC1 +

Disease Details

Synonyms
Large Intestine Cancer, Cancer of the Large Intestine, Cancer of Large Intestine, Carcinoma of the Large Intestine, Large Bowel Carcinoma, Large Intestine Carcinoma, Colorectal cancer, NOS, Cancer of Large Bowel, CRC, Colorectal Cancer, Carcinoma of Large Bowel, Carcinoma of Large Intestine, Large Bowel Cancer, Cancer of the Large Bowel, Carcinoma of the Large Bowel
Parent(s)
Malignant Colorectal Neoplasm
Children
Colon Carcinoma, Colorectal Adenocarcinoma, Colorectal Neuroendocrine Carcinoma, Colorectal Medullary Carcinoma, Rectal Carcinoma, and Rectosigmoid 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.