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 +

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