Associated Genetic Biomarkers

Overview

NCI Definition: A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. [1]

Ovarian carcinomas most frequently harbor alterations in TP53, SMARCA4, PIK3CA, KMT2D, and KRAS [2].

Most Commonly Altered Genes in Ovarian Carcinoma

TP53 Mutation, TP53 c.217-c.1178 Missense, TP53 c.142-c.212 Missense, TP53 c.1-c.137 Missense, and TP53 Missense are the most common alterations in ovarian carcinoma [2].

Top Alterations in Ovarian Carcinoma

Significant Genes in Ovarian Carcinoma

ABL2 +

ACVR1B +

AKT1 +

AKT2 +

AKT3 +

APC +

ARAF +

ASXL1 +

ATM +

ATR +

ATRX +

BARD1 +

BLM +

BRAF +

BRCA1 +

BRCA2 +

BRIP1 +

C11ORF30 +

CDK12 +

CDKN1A +

CDKN1B +

CDKN2A +

CHD4 +

CHEK1 +

CHEK2 +

CRKL +

CYLD +

DICER1 +

DNMT3A +

EGFR +

ERBB2 +

ERBB3 +

EZH2 +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

FGF19 +

FGF4 +

FGFR2 +

FLT3 +

GATA3 +

HDAC1 +

HDAC2 +

HGF +

HRAS +

IDH1 +

IRS2 +

KDM6A +

KDR +

KEAP1 +

KIT +

KMT2D +

KRAS +

MAGI2 +

MAP2K1 +

MAP2K2 +

MAP2K4 +

MAP3K1 +

MAPK1 +

MCPH1 +

MDM2 +

MDM4 +

MED12 +

MET +

MGMT +

MLF1 +

MLH1 +

MLH3 +

MRE11A +

MSH2 +

MSH3 +

MSH6 +

MTOR +

MUTYH +

MYC +

NBN +

NF1 +

NF2 +

NOTCH1 +

NOTCH2 +

NPM1 +

NRAS +

NSD1 +

PALB2 +

PARP1 +

PARP2 +

PDGFRA +

PIK3C2B +

PIK3CA +

PIK3CB +

PIK3CG +

PIK3R1 +

PIK3R2 +

PMS1 +

PMS2 +

PPP2R1A +

PPP2R2A +

PTCH1 +

PTEN +

PTPN11 +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RAD54L +

RAF1 +

RB1 +

RET +

RICTOR +

RNF43 +

RPTOR +

RUNX1 +

SETD2 +

SLX4 +

SMARCA4 +

SOX9 +

SRC +

STAG2 +

STK11 +

TAF1 +

TBX3 +

TET2 +

TP53 +

TSC1 +

TSC2 +

XPO1 +

XRCC1 +

Disease Details

Synonyms
Carcinoma of Ovary, Epithelial Ovarian Cancer, Ovarian epithelial cancer, Carcinoma of the Ovary
Parent(s)
Malignant Ovarian Epithelial Tumor
Children
Undifferentiated Ovarian Carcinoma, Ovarian Transitional Cell Carcinoma, Ovarian Small Cell Carcinoma, Ovarian Large Cell Neuroendocrine Carcinoma, Ovarian Squamous Cell Carcinoma, Ovarian Adenocarcinoma, and Malignant Ovarian Mixed Epithelial Tumor

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 4. 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.