Associated Genetic Biomarkers

Overview

NCI Definition: A primary or metastatic malignant neoplasm involving the small intestine, large intestine, or both. Representative examples are carcinomas, lymphomas, and sarcomas. [1]

Malignant intestinal neoplasms most frequently harbor alterations in TP53, APC, KRAS, PIK3CA, and SMAD4 [2].

Most Commonly Altered Genes in Malignant Intestinal Neoplasm

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

Top Alterations in Malignant Intestinal Neoplasm

Significant Genes in Malignant Intestinal Neoplasm

ARID1A +

ATM +

ATR +

ATRX +

BARD1 +

BRCA1 +

BRCA2 +

BRIP1 +

C11ORF30 +

CDK12 +

CHEK1 +

CHEK2 +

ERCC2 +

ERCC3 +

ERCC4 +

ERCC5 +

ERCC6 +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

HDAC1 +

HDAC2 +

KRAS +

MCPH1 +

MDM2 +

MDM4 +

MLF1 +

MLH1 +

MLH3 +

MRE11A +

MSH2 +

MSH3 +

MSH6 +

MUTYH +

NBN +

NPM1 +

PALB2 +

PARP1 +

PARP2 +

PMS1 +

PMS2 +

POLE +

PPP2R1A +

PPP2R2A +

PTEN +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RAD54L +

SLX4 +

SMARCB1 +

STAG2 +

STK11 +

TP53 +

XRCC1 +

Disease Details

Synonyms
Malignant Intestine Neoplasm, Malignant Intestine Tumor, Malignant Neoplasm of the Intestine, Malignant Intestinal Neoplasms, Intestinal Tumors, Malignant, Malignant Intestinal Tumors, Malignant Tumor of Intestine, Cancer of the Intestine, Intestinal Cancer, Bowel Cancer, Malignant Intestinal Tumor, Malignant Neoplasm of Intestine, Cancer of Intestine, Intestinal Neoplasms, Malignant, Malignant Tumor of the Intestine
Parent(s)
Malignant Digestive System Neoplasm
Children
Malignant Small Intestinal Neoplasm and Malignant Colorectal Neoplasm

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.