Associated Genetic Biomarkers

Overview

NCI Definition: A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas. [1]

Vaginal carcinomas most frequently harbor alterations in TP53, KRAS, RASA1, KMT2D, and JAK2 [2].

Most Commonly Altered Genes in Vaginal Carcinoma

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

Top Alterations in Vaginal Carcinoma

Significant Genes in Vaginal Carcinoma

ARID1A +

ATM +

ATR +

ATRX +

BARD1 +

BRCA1 +

BRCA2 +

BRIP1 +

C11ORF30 +

CCNE1 +

CDK12 +

CHEK1 +

CHEK2 +

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 Vagina, Cancer of Vagina, Cancer of the Vagina, Vagina Carcinoma, Vaginal cancer, NOS, Carcinoma of Vagina, Vaginal Cancer, Vagina Cancer
Parent(s)
Vulvar/Vaginal Carcinoma
Children
Vaginal Adenosquamous Carcinoma, Vaginal Squamous Cell Carcinoma, Poorly Differentiated Vaginal Carcinoma, and Vaginal Adenocarcinoma

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.