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, KRAS, CCNE1, PIK3CA, and NF1 [2].

Most Commonly Altered Genes in Ovarian Carcinoma

TP53 Mutation, TP53 Missense, TP53 c.217-c.1178 Missense, TP53 Exon 5 Mutation, and TP53 Exon 8 Mutation are the most common alterations in ovarian carcinoma [2].

Top Alterations in Ovarian Carcinoma

Significant Genes in Ovarian Carcinoma

ABCB1 +

ABL2 +

ACVR1B +

AKT1 +

AKT2 +

AKT3 +

ALK +

APC +

ARAF +

ARID1A +

ASXL1 +

ATM +

ATR +

ATRX +

BARD1 +

BLM +

BRAF +

BRCA1 +

BRCA2 +

BRIP1 +

C11ORF30 +

CCND1 +

CDK12 +

CDK4 +

CDK6 +

CDKN1A +

CDKN1B +

CDKN2A +

CHD4 +

CHEK1 +

CHEK2 +

CRKL +

CSF1R +

CYLD +

DICER1 +

DNMT3A +

EGFR +

EPCAM +

ERBB2 +

ERBB3 +

ERCC2 +

ERCC3 +

ERCC4 +

ERCC5 +

ERCC6 +

EXO1 +

EZH2 +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

FGF19 +

FGF4 +

FGFR1 +

FGFR2 +

FGFR3 +

FLT1 +

FLT3 +

FLT4 +

GATA3 +

HDAC1 +

HDAC2 +

HGF +

HRAS +

IDH1 +

IRS2 +

KDM6A +

KDR +

KEAP1 +

KIT +

KMT2D +

KRAS +

MAGI2 +

MAP2K1 +

MAP2K2 +

MAP2K4 +

MAP3K1 +

MAPK1 +

MCPH1 +

MDM2 +

MDM4 +

MED12 +

MET +

MLF1 +

MLH1 +

MLH3 +

MRE11A +

MSH2 +

MSH3 +

MSH6 +

MST1R +

MTOR +

MUTYH +

MYC +

NBN +

NF1 +

NF2 +

NOTCH1 +

NOTCH2 +

NPM1 +

NRAS +

NRG1 +

NSD1 +

NTRK1 +

PALB2 +

PARP1 +

PARP2 +

PCNA +

PDGFRA +

PDGFRB +

PIK3C2B +

PIK3CA +

PIK3CB +

PIK3CG +

PIK3R1 +

PIK3R2 +

PMS1 +

PMS2 +

POLD1 +

POLE +

PPP2R1A +

PPP2R2A +

PTCH1 +

PTEN +

PTPN11 +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RAD54L +

RAF1 +

RB1 +

RET +

RFC1 +

RFC2 +

RFC3 +

RFC4 +

RFC5 +

RICTOR +

RNF43 +

ROS1 +

RPA1 +

RPA2 +

RPA3 +

RPA4 +

RPTOR +

RUNX1 +

SETD2 +

SLX4 +

SMARCA4 +

SMARCB1 +

SOX9 +

SRC +

SSBP1 +

STAG2 +

STK11 +

TAF1 +

TBX3 +

TET2 +

TP53 +

TSC1 +

TSC2 +

VHL +

XPO1 +

XRCC1 +

Disease Details

Synonyms
Carcinoma of Ovary, High-Grade Carcinoma c/w Ovarian Primary --- Ovarian, Epithelial Ovarian Cancer, Ovary epithelial carcinoma (NOS), Carcinoma of the Ovary, Ovarian epithelial cancer, High-Grade Carcinoma c/w Ovarian Primary, Carcinoma c/w Ovarian Primary --- Ovarian, Carcinoma c/w Ovarian Primary, Ovary Carcinoma
Parent(s)
Malignant Ovarian Epithelial Tumor
Children
Ovarian Adenocarcinoma, Malignant Ovarian Mixed Epithelial Tumor, Ovarian Undifferentiated Carcinoma, Hereditary Ovarian Carcinoma, Ovarian Transitional Cell Carcinoma, Ovarian Squamous Cell Carcinoma, and Ovarian Neuroendocrine 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 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.