Associated Genetic Biomarkers

Overview

NCI Definition: A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation. [1]

Endometrial carcinomas most frequently harbor alterations in PTEN, PIK3CA, ARID1A, TP53, and PIK3R1 [2].

Most Commonly Altered Genes in Endometrial Carcinoma

PTEN Mutation, PIK3CA Mutation, ARID1A Mutation, TP53 Mutation, and TP53 Missense are the most common alterations in endometrial carcinoma [2].

Top Alterations in Endometrial Carcinoma

Biomarker-Directed Therapies

Significant Genes in Endometrial Carcinoma

AKT1 +

AKT2 +

AKT3 +

ALK +

ARAF +

ARID1A +

ATM +

ATR +

ATRX +

BARD1 +

BRAF +

BRCA1 +

BRCA2 +

BRIP1 +

C11ORF30 +

CDK12 +

CHEK1 +

CHEK2 +

CRKL +

EGFR +

ERBB2 +

ERBB3 +

ERCC2 +

ERCC3 +

ERCC4 +

ERCC5 +

ERCC6 +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

FGF1 +

FGF10 +

FGF11 +

FGF12 +

FGF13 +

FGF14 +

FGF16 +

FGF17 +

FGF18 +

FGF19 +

FGF2 +

FGF20 +

FGF21 +

FGF22 +

FGF23 +

FGF3 +

FGF4 +

FGF5 +

FGF6 +

FGF7 +

FGF8 +

FGF9 +

FGFR1 +

FGFR2 +

FGFR3 +

FGFR4 +

HDAC1 +

HDAC2 +

HRAS +

IRS2 +

KIT +

KRAS +

MAP2K1 +

MAP2K2 +

MAP2K4 +

MAP3K1 +

MAPK1 +

MCPH1 +

MDM2 +

MDM4 +

MET +

MLF1 +

MLH1 +

MLH3 +

MRE11A +

MSH2 +

MSH3 +

MSH6 +

MTOR +

MUTYH +

NBN +

NF1 +

NPM1 +

NRAS +

PALB2 +

PARP1 +

PARP2 +

PDGFRA +

PIK3CA +

PIK3CG +

PIK3R1 +

PIK3R2 +

PMS1 +

PMS2 +

POLE +

PPP2R1A +

PPP2R2A +

PTEN +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RAD54L +

RAF1 +

RET +

RICTOR +

RNF43 +

ROS1 +

RPTOR +

SLX4 +

SMARCB1 +

SRC +

STAG2 +

STK11 +

TP53 +

TSC1 +

TSC2 +

XRCC1 +

Disease Details

Synonyms
Carcinoma of Endometrium, CARCINOMA, ENDOMETRIAL, MALIGNANT, endometrial cancer, Carcinoma of the Endometrium
Parent(s)
Malignant Endometrial Neoplasm
Children
Uterine Corpus Mesonephric Adenocarcinoma, Endometrial Small Cell Carcinoma, Endometrial Squamous Cell Carcinoma, Endometrial Dedifferentiated Carcinoma, Endometrial Transitional Cell Carcinoma, Poorly Differentiated Endometrial Carcinoma, Endometrial Undifferentiated Carcinoma, Endometrial Adenocarcinoma, Endometrial Adenosquamous Carcinoma, and Uterine Corpus Neuroendocrine Neoplasm
OncoTree Name
Endometrial Carcinoma
OncoTree Code
UCEC

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.