Overview

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

Rectal carcinomas most frequently harbor alterations in TP53, APC, KRAS, FBXW7, and SMAD4 [2].

Most Commonly Altered Genes in Rectal Carcinoma

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

Top Alterations in Rectal Carcinoma

Significant Genes in Rectal Carcinoma

BRAF +

KRAS +

NRAS +

PIK3CA +

PIK3R1 +

PTEN +

Disease Details

Synonyms
Cancer of Rectum, poorly differentiated carcinoma c/w anorectal primary, Cancer of the Rectum, Carcinoma of the Rectum, Rectal Cancer, Carcinoma of Rectum
Parent(s)
Malignant Rectal Neoplasm
Children
Rectal Adenocarcinoma, Rectal Sarcomatoid Carcinoma, Stage 0 Rectal Cancer, and Rectal Squamous Cell 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 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.