Associated Genetic Biomarkers


NCI Definition: A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma. [1]

Anal neoplasms most frequently harbor alterations in PIK3CA, KMT2D, SF3B1, TP53, and KIT [2].

Most Commonly Altered Genes in Anal Neoplasm

PIK3CA Mutation, KMT2D Mutation, SF3B1 Mutation, SF3B1 Exon 14 Mutation, and SF3B1 Codon 625 Missense are the most common alterations in anal neoplasm [2].

Top Alterations in Anal Neoplasm

Disease Details

Neoplasm of Anus, Neoplasm of the Anus, Anal Tumors, Tumor of the Anus, Anal Neoplasms, Benign and Malignant, Tumor of Anus, Anal Tumor, Anus Neoplasm
Digestive System Neoplasm
Anal Intraepithelial Neoplasia, Malignant Anal Neoplasm, and Anal Canal Neuroendocrine Neoplasm


1. National Cancer Institute. NCI Thesaurus Version 18.11d. [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.