NCI Definition: A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC. [1]

Anal squamous cell carcinomas most frequently harbor alterations in PIK3CA, KMT2D, FBXW7, SOX2, and EP300 [2].

Most Commonly Altered Genes in Anal Squamous Cell Carcinoma

PIK3CA Mutation, KMT2D Mutation, PIK3CA E545K, FBXW7 Mutation, and SOX2 Amplification are the most common alterations in anal squamous cell carcinoma [2].

Top Alterations in Anal Squamous Cell Carcinoma

Significant Genes in Anal Squamous Cell Carcinoma


MLH1 +

MLH3 +

MSH2 +

MSH3 +

MSH6 +

PMS1 +

PMS2 +

Disease Details

Squamous Cell Carcinoma of Anus, Epidermoid Carcinoma of Anus, Epidermoid Carcinoma of the Anus, Squamous Cell Anal Carcinoma, Epidermoid Anal Carcinoma, Squamous Cell Carcinoma of the Anus, Squamous cell carcinoma - anus, Anus squamous cell carcinoma
Squamous Cell Carcinoma
Anal Canal Squamous Cell Carcinoma, Anal Basaloid Carcinoma, Anal Margin Squamous Cell Carcinoma, and Anal Verrucous Carcinoma
OncoTree Name
Anal Squamous Cell Carcinoma
OncoTree Code


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.