Associated Genetic Biomarkers

Overview

NCI Definition: A primary or metastatic malignant neoplasm involving the small intestine. [1]

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

Most Commonly Altered Genes in Malignant Small Intestinal Neoplasm

KRAS Mutation, TP53 Mutation, KRAS Exon 2 Mutation, KRAS Codon 12 Missense, and TP53 c.217-c.1178 Missense are the most common alterations in malignant small intestinal neoplasm [2].

Top Alterations in Malignant Small Intestinal Neoplasm

Significant Genes in Malignant Small 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 Tumor of the Small Bowel, Malignant Neoplasm of the Small Intestine, Malignant Tumor of Small Intestine, Malignant Small Intestine Neoplasm, Malignant Neoplasm of Small Bowel, Malignant Tumor of Small Bowel, Malignant Small Bowel Tumor, Malignant Neoplasm of Small Intestine, Malignant Tumor of the Small Intestine, Malignant Small Bowel Neoplasm, Malignant Neoplasm of the Small Bowel, Malignant Small Intestine Tumor
Parent(s)
Small Intestinal Neoplasm
Children
Small Intestinal Carcinoma, Small Intestinal Lymphoma, Malignant Duodenal Neoplasm, Jejunal Cancer, and Small Intestinal Sarcoma
OncoTree Name
Small Bowel Cancer
OncoTree Code
SBC

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.