NCI Definition: A malignant epithelial neoplasm arising from the appendix. The vast majority of the cases are adenocarcinomas. [1]

Appendix carcinomas most frequently harbor alterations in KRAS, TP53, SMAD4, APC, and SOX9 [2].

Most Commonly Altered Genes in Appendix Carcinoma

KRAS Mutation, KRAS Exon 2 Mutation, KRAS Codon 12 Missense, KRAS G12D, and TP53 Mutation are the most common alterations in appendix carcinoma [2].

Top Alterations in Appendix Carcinoma

Significant Genes in Appendix Carcinoma

MLH1 +

MLH3 +

MSH2 +

MSH3 +

MSH6 +

PMS1 +

PMS2 +

Disease Details

Appendix Cancer, Carcinoma of the Appendix, Carcinoma of Appendix
Malignant Appendix Neoplasm
Appendix Adenocarcinoma and Appendix Mixed Adenoneuroendocrine Carcinoma


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.