Associated Genetic Biomarkers

Overview

NCI Definition: A carcinoma that arises from the anus. Anal carcinomas include the anal canal and perianal area (anal margin) carcinomas. Perianal carcinomas are staged separately as skin carcinomas in AJCC v6 and v7 editions. The AJCC v8 edition staging system applies to all carcinomas arising in the anal canal, including carcinomas that arise within anorectal fistulas and those arising in the perianal area (anal margin). [1]

Anal carcinomas most frequently harbor alterations in PIK3CA, KMT2D, SOX2, FBXW7, and TP53 [2].

Most Commonly Altered Genes in Anal Carcinoma

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

Top Alterations in Anal Carcinoma

Significant Genes in Anal Carcinoma

ARID1A +

ATM +

ATR +

ATRX +

BARD1 +

BRCA1 +

BRCA2 +

BRIP1 +

C11ORF30 +

CCNE1 +

CDK12 +

CHEK1 +

CHEK2 +

ERBB2 +

ERCC2 +

ERCC3 +

ERCC4 +

ERCC5 +

ERCC6 +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

HDAC1 +

HDAC2 +

MDM2 +

MDM4 +

MLF1 +

MLH1 +

MLH3 +

MRE11A +

MSH2 +

MSH3 +

MSH6 +

MUTYH +

MYC +

NBN +

NPM1 +

PALB2 +

PARP1 +

PARP2 +

PMS1 +

PMS2 +

POLE +

PPP2R1A +

PPP2R2A +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RAD54L +

RB1 +

SLX4 +

SMARCB1 +

STAG2 +

STK11 +

TP53 +

XRCC1 +

Disease Details

Synonyms
Carcinoma of the Anus, Anal Cancer, Carcinoma of Anus, Anal cancer, NOS, Cancer of the Anus, Cancer of Anus
Parent(s)
Malignant Anal Neoplasm
Children
Anal Canal Carcinoma, Anal Margin Carcinoma, Anal Adenocarcinoma, and Anal 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 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.