MCID: OVR078
MIFTS: 49

Ovarian Cancer, Somatic malady

Categories: Genetic diseases (common), Cancer diseases

Aliases & Classifications for Ovarian Cancer, Somatic

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Aliases & Descriptions for Ovarian Cancer, Somatic:

Name: Ovarian Cancer, Somatic 49 11 22
Adenocarcinoma, Ovarian, Somatic 49 11
Epithelial Ovarian Cancer 67 65
Malignant Neoplasm of Ovary 65
 
Ovarian Carcinoma, Somatic 49
Ovarian Carcinoma 65
Ovarian Cancer 67
Oc 67

Characteristics:

HPO:

61
ovarian cancer, somatic:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 167000
MeSH36 D010051
ICD1027 C56
UMLS65 C0029925

Summaries for Ovarian Cancer, Somatic

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OMIM:49 Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with... (167000) more...

MalaCards based summary: Ovarian Cancer, Somatic, also known as adenocarcinoma, ovarian, somatic, is related to brca2 hereditary breast and ovarian cancer syndrome and extramedullary plasmacytoma, and has symptoms including dysgerminoma, ovarian papillary adenocarcinoma and breast carcinoma. An important gene associated with Ovarian Cancer, Somatic is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways are Alpha6-Beta4 Integrin Signaling Pathway and Signaling events mediated by VEGFR1 and VEGFR2. Affiliated tissues include ovary, lung and cervix, and related mouse phenotypes are no phenotypic analysis and limbs/digits/tail.

UniProtKB/Swiss-Prot:67 Ovarian cancer: The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease.

Related Diseases for Ovarian Cancer, Somatic

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Diseases related to Ovarian Cancer, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 646)
idRelated DiseaseScoreTop Affiliating Genes
1brca2 hereditary breast and ovarian cancer syndrome33.3BRCA1, BRCA2, PALB2
2extramedullary plasmacytoma30.1CDH1, CTNNB1, ERBB2
3gastrointestinal stromal tumor30.1AKT1, CDH1, ERBB2
4renal cell carcinoma30.0AKT1, CDH1, KRAS, PIK3CA
5hepatocellular carcinoma29.8AKT1, CDH1, CTNNB1, MUT, PIK3CA
6restless legs syndrome29.7CDH1, CTNNB1, KRAS
7mastitis29.7BRCA1, BRCA2
8cystadenoma29.6BRCA1, BRCA2
9esophageal cancer29.1AKT1, CDH1, CTNNB1, ERBB2, KRAS, PIK3CA
10pancreatic ductal adenocarcinoma29.0AKT1, BRCA2, CDH1, KRAS
11lung cancer28.8AKT1, CDH1, CTNNB1, ERBB2, KRAS, MUT
12ovary epithelial cancer28.7AKT1, BRCA1, BRCA2, CDH1, ERBB2, KRAS
13prostate cancer28.6AKT1, BRCA1, BRCA2, CDH1, CTNNB1, ERBB2
14breast cancer28.3AKT1, BRCA1, BRCA2, CDH1, CTNNB1, ERBB2
15colorectal cancer28.1AKT1, BRCA1, BRCA2, CDH1, CTNNB1, ERBB2
16ovarian cancer12.7
17hereditary breast ovarian cancer12.6
18breast-ovarian cancer, familial 412.5
19breast-ovarian cancer, familial 312.5
20brca1 hereditary breast and ovarian cancer syndrome12.5
21breast-ovarian cancer, familial, 212.5
22breast-ovarian cancer, familial, 112.5
23childhood ovarian cancer12.4
24brca1 and brca2 hereditary breast and ovarian cancer12.3
25rad51c-related familial susceptibility to breast-ovarian cancer12.2
26rad51d-related familial susceptibility to breast-ovarian cancer12.2
27hereditary site-specific ovarian cancer syndrome12.2
28ovarian epithelial cancer11.8
29pancreatic cancer10.8
30lynch syndrome10.7
31hepatitis10.6
32leukemia10.6
33endotheliitis10.6
34prostatitis10.5
35lymphoma10.5
36neuronitis10.5
37pancreatitis10.5
38cerebritis10.4
39megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.4MUT, PIK3CA
40cowden syndrome 510.4MUT, PIK3CA
41spermatogenic failure 610.4MUT, PIK3CA
42melanoma10.4
43adenocarcinoma10.4
44paraneoplastic cerebellar degeneration10.4
45arthritis10.4
46thyroiditis10.4
47tuberculosis10.4
48congenital disorder of glycosylation, type if10.4ERBB2, NEU1
49breast ductal adenoma10.4CDH1, ERBB2
50retinitis10.4

Graphical network of the top 20 diseases related to Ovarian Cancer, Somatic:



Diseases related to ovarian cancer, somatic

Symptoms for Ovarian Cancer, Somatic

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Symptoms by clinical synopsis from OMIM:

167000

Clinical features from OMIM:

167000

HPO human phenotypes related to Ovarian Cancer, Somatic:

id Description Frequency HPO Source Accession
1 dysgerminoma HP:0100621
2 ovarian papillary adenocarcinoma HP:0006774
3 breast carcinoma HP:0003002
4 abnormality of metabolism/homeostasis HP:0001939

Drugs & Therapeutics for Ovarian Cancer, Somatic

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FDA approved drugs:

(show all 7)
id Drug Name Active Ingredient(s)15 Company Approval Date
1
CEA-Scan15 Immunomedics April 1996
FDA Label: -
Disease/s that Drug Treats:colorectal cancer
Indications and Usage:15 -
DrugBank Targets:13 1. Carcinoembryonic antigen-related cell adhesion molecule 1
Mechanism of Action:15 
Target: carcinoembryonic antigen (""CEA"")
Action: marks
FDA: -
2
Doxil15 41 DOXORUBICIN HYDROCHLORIDE Alza June 1999
FDA Label: Doxil
Disease/s that Drug Treats:ovarian cancer that is refractory to other first-line therapies
Indications and Usage:15 DOXIL is an anthracycline topoisomerase II inhibitor indicated for: Ovarian cancer (1.1)After failure of platinum-based chemotherapy. AIDS-related Kaposi’s Sarcoma (1.2)After failure of prior systemic chemotherapy or intolerance to such therapy. Multiple Myeloma (1.3)In combination with bortezomib in patients who have not previouslyreceived bortezomib and have received at least one prior therapy.
DrugBank Targets:13 1. DNA;2. DNA topoisomerase 2-alpha
Mechanism of Action:15 
Target: nucleic acidsynthesis
Action: inhibitor
FDA: The active ingredient of DOXIL is doxorubicin HCl. The mechanism of action ofdoxorubicin HCl is thought to be related to its ability to bind DNA and inhibit nucleic acidsynthesis. Cell structure studies have demonstrated rapid cell penetration and perinuclearReference ID: 373359617 chromatin binding, rapid inhibition of mitotic activity and nucleic acid synthesis, andinduction of mutagenesis and chromosomal aberrations.
3
Ethyol15 AMIFOSTINE Alza December 8, 1995
FDA Label: Ethyol
Disease/s that Drug Treats:ovarian cancer
Indications and Usage:15 ETHYOL (amifostine) is indicated to reduce the cumulative renal toxicity associated withrepeated administration of cisplatin in patients with advanced ovarian cancer.ETHYOL is indicated to reduce the incidence of moderate to severe xerostomia in patientsundergoing post-operative radiation treatment for head and neck cancer, where the radiationport includes a substantial portion of the parotid glands (see Clinical Studies).For the approved indications, the clinical data do not suggest that the effectiveness of cisplatin basedchemotherapy regimens or radiation therapy is altered by ETHYOL. There are at present only limiteddata on the effects of ETHYOL on the efficacy of chemotherapy or radiotherapy in other settings.ETHYOL should not be administered to patients in other settings where chemotherapy can produce asignificant survival benefit or cure, or in patients receiving definitive radiotherapy, except in thecontext of a clinical study (see WARNINGS).
DrugBank Targets:13 1. Ectonucleotide pyrophosphatase/phosphodiesterase family member 1;2. Alkaline phosphatase, placental-like
Mechanism of Action:15 
Target: -
Action: -
FDA: -
4
Hycamtin15 41 TOPOTECAN HYDROCHLORIDE GlaxoSmithKline/ SmithKline Beecham October 2007/ May 1996
FDA Label: Hycamtin
Disease/s that Drug Treats:small cell lung cancer/ ovarian cancer
Indications and Usage:15 HYCAMTIN for injection is a topoisomerase inhibitor indicated for: metastatic carcinoma of the ovary after disease progression on or afterinitial or subsequent chemotherapy. (1.1) small cell lung cancer platinum-sensitive disease in patients whoprogressed after first-line chemotherapy. (1.2) combination therapy with cisplatin for Stage IV-B, recurrent, orpersistent carcinoma of the cervix which is not amenable to curativetreatment. (1.3)
DrugBank Targets:13 1. DNA topoisomerase 1;2. DNA topoisomerase I, mitochondrial;3. DNA
Mechanism of Action:15 
Target: topoisomerase I
Action: inhibitor
FDA: Topoisomerase I relieves torsional strain in DNA by inducing reversible single-strand breaks.Topotecan binds to the topoisomerase I-DNA complex and prevents re-ligation of these singlestrandbreaks. The cytotoxicity of topotecan is thought to be due to double-strand DNA damageproduced during DNA synthesis, when replication enzymes interact with the ternary complexformed by topotecan, topoisomerase I, and DNA. Mammalian cells cannot efficiently repairthese double-strand breaks.
5
Iressa15 41 GEFITINIB AstraZeneca May 2003
FDA Label: Iressa
Disease/s that Drug Treats:Non-Small-Cell Lung Cancer
Indications and Usage:15 IRESSA is indicated as monotherapy for the continued treatment of patients with locally advanced ormetastatic non-small cell lung cancer after failure of both platinum-based and docetaxelchemotherapies who are benefiting or have benefited from IRESSA.In light of positive survival data with other agents including another oral EGFR inhibitor, physiciansshould use other treatment options in advanced non-small cell lung cancer patient populations whohave received one or two prior chemotherapy regimens and are refractory or intolerant to their mostrecent regimen. The effectiveness of IRESSA was initially based on objective response rates (see CLINICALPHARMACOLOGY-Clinical Studies section). Subsequent studies intended to demonstrate anincrease in survival have been unsuccessful. Specifically, results from a large placebo-controlledrandomized trial in patients with advanced NSCLC who progressed while receiving or within 90 daysof the last dose of chemotherapy or were intolerant to the most recent prior chemotherapy regimen, didnot show an improvement in survival (see CLINICAL PHARMACOLOGY- Clinical Studiessection).Results from two large, controlled, randomized trials in first-line treatment of non-small cell lungcancer showed no benefit from adding IRESSA to doublet, platinum-based chemotherapy.
DrugBank Targets:13 1. Epidermal growth factor receptor
Mechanism of Action:15 
Target: EGFR tyrosine kinase and other tyrosine kinases
Action: inhibitor
FDA: The mechanism of the clinical antitumor action of gefitinib is not fully characterized. Gefitinibinhibits the intracellular phosphorylation of numerous tyrosine kinases associated with transmembranecell surface receptors, including the tyrosine kinases associated with the epidermal growth factorreceptor (EGFR-TK). EGFR is expressed on the cell surface of many normal cells and cancer cells.No clinical studies have been performed that demonstrate a correlation between EGFR receptorexpression and response to gefitinib.
6
Lynparza15 41 OLAPARIB AstraZeneca December 2014
FDA Label: Lynparza
Disease/s that Drug Treats:previously treated BRCA mutated advanced ovarian cancer
Indications and Usage:15 Lynparza is a poly (ADP-ribose) polymerase (PARP) inhibitor indicated asmonotherapy in patients with deleterious or suspected deleterious germlineBRCA mutated (as detected by an FDA-approved test) advanced ovariancancer who have been treated with three or more prior lines of chemotherapy.(1.1)The indication is approved under accelerated approval based on objectiveresponse rate and duration of response. Continued approval for this indicationmay be contingent upon verification and description of clinical benefit inconfirmatory trials. (1 1, 14)
DrugBank Targets:13 1. Poly [ADP-ribose] polymerase 1;2. Poly [ADP-ribose] polymerase 2;3. Poly [ADP-ribose] polymerase 3
Mechanism of Action:15 
Target: poly (ADP-ribose) polymerase (PARP)
Action: inhibitor
FDA: Lynparza is an inhibitor of poly (ADP-ribose) polymerase (PARP) enzymes, including PARP1, PARP2, and PARP3.PARP enzymes are involved in normal cellular homeostasis, such as DNA transcription, cell cycle regulation, and DNArepair. Olaparib has been shown to inhibit growth of select tumor cell lines in vitro and decrease tumor growth in mousexenograft models of human cancer both as monotherapy or following platinum-based chemotherapy. Increasedcytotoxicity and anti-tumor activity following treatment with olaparib were noted in cell lines and mouse tumor modelswith deficiencies in BRCA. In vitro studies have shown that olaparib-induced cytotoxicity may involve inhibition ofPARP enzymatic activity and increased formation of PARP-DNA complex, resulting in disruption of cellular homeostasisand cell death.
7
Iressa15 GEFITINIB AstraZeneca May 2003
FDA Label: Iressa
Disease/s that Drug Treats:Non-Small-Cell Lung Cancer
Indications and Usage:15 IRESSA is indicated as monotherapy for the continued treatment of patients with locally advanced or metastatic non-small cell lung cancer after failure of both platinum-based and docetaxel chemotherapies who are benefiting or have benefited from IRESSA. In light of positive survival data with other agents including another oral EGFR inhibitor, physicians should use other treatment options in advanced non-small cell lung cancer patient populations who have received one or two prior chemotherapy regimens and are refractory or intolerant to their most recent regimen. The effectiveness of IRESSA was initially based on objective response rates (see CLINICAL PHARMACOLOGY-Clinical Studies section). Subsequent studies intended to demonstrate an increase in survival have been unsuccessful. Specifically, results from a large placebo-controlled randomized trial in patients with advanced NSCLC who progressed while receiving or within 90 days of the last dose of chemotherapy or were intolerant to the most recent prior chemotherapy regimen, did not show an improvement in survival (see CLINICAL PHARMACOLOGY- Clinical Studies section). Results from two large, controlled, randomized trials in first-line treatment of non-small cell lung cancer showed no benefit from adding IRESSA to doublet, platinum-based chemotherapy.
DrugBank Targets:13 Epidermal growth factor receptor
Mechanism of Action:15 
Target: EGFR tyrosine kinase
Action: inhibitor
FDA: The mechanism of the clinical antitumor action of gefitinib is not fully characterized. Gefitinib inhibits the intracellular phosphorylation of numerous tyrosine kinases associated with transmembrane cell surface receptors, including the tyrosine kinases associated with the epidermal growth factor receptor (EGFR-TK). EGFR is expressed on the cell surface of many normal cells and cancer cells. No clinical studies have been performed that demonstrate a correlation between EGFR receptor expression and response to gefitinib.

Drugs for Ovarian Cancer, Somatic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
OlaparibapprovedPhase 4, Phase 3104763113-22-023725625
Synonyms:
4-(3-{[4-(cyclopropylcarbonyl)piperazin-1-yl]carbonyl}-4-fluorobenzyl)phthalazin-1(2H)-one
4-[(3-{[4-Cyclopropylcarbonyl)piperazin-4-yl]carbonyl}-4-fluorophenyl)methyl]phtalazin-1(2H)-one
4-[3-(4-Cyclopropanecarbonyl-piperazine-1-carbonyl)-4-fluoro-benzyl]-2H-phthalazin-1-one
763113-22-0
937799-91-2
AKOS005145764
AZD 2281
AZD-2281
AZD2281
 
Acylpiperazine analogue, 47
CHEMBL521686
EC-000.2324
EN002690
FT-0083489
KU-0059436
KU-59436
Olaparib
Olaparib, KU-0059436, AZD2281, KU0059436, AZD2281
S1060_Selleck
olaparib
2Poly(ADP-ribose) Polymerase InhibitorsPhase 4, Phase 3, Phase 1, Phase 2250
3MitogensPhase 21386
4
RucaparibPhase 1, Phase 2109931954
Synonyms:
AG-014699
 
AG014699
PF-01367338
rucaparib
5TalazoparibPhase 220
6Kavanutraceutical1329000-38-85281052

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1To Assess Efficacy and Safety of Olaparib Maintenance Monotherapy in the Treatment of Ovarian CancerRecruitingNCT02476968Phase 4
2Olaparib Maintenance Treatment Versus Placebo in Patients With PSR Ovarian Cancer Who Are in CR or PR to Platinum-based Chemotherapy and Whose Tumours Carry sBRCAm or HRR-associated Genes MutationsWithdrawnNCT02392676Phase 3
3A Study of Oral Rucaparib in Patients With a Solid Tumor (Phase I) or With gBRCA Mutation Ovarian Cancer (Phase II)RecruitingNCT01482715Phase 1, Phase 2
4An Open-label, Phase 2 Study of Neratinib in Patients With Solid Tumors With Somatic Human Epidermal Growth Factor Receptor (EGFR, HER2, HER3) Mutations or EGFR Gene AmplificationRecruitingNCT01953926Phase 2
5Phase II Study of BMN 673Active, not recruitingNCT02286687Phase 2
6Live After an Epithelial Ovarian Cancer: Multidisciplinary Assessment of Effects and Long-term Remission in Patients Needs.RecruitingNCT02323568
7Lavage of the Uterine Cavity for the Diagnosis of Ovarian and Tubal Carcinoma - Study of Sensitivity and SpecificityRecruitingNCT02518256
8Clinical Significance of Germline BRCA MutationsRecruitingNCT00579488
9Prevalence of BRCA in Patients With Ovarian CancerActive, not recruitingNCT02222883
10EXPRESS: EXcePtional RESponSe - Exceptional and Unexpected Response to Targeted TherapiesActive, not recruitingNCT02701907
11Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary PresentationNot yet recruitingNCT02664389
12A Study of Long-Term Responders on OlaparibNot yet recruitingNCT02489058

Search NIH Clinical Center for Ovarian Cancer, Somatic

Genetic Tests for Ovarian Cancer, Somatic

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Genetic tests related to Ovarian Cancer, Somatic:

id Genetic test Affiliating Genes
1 Ovarian Cancer, Somatic22 AKT1, PIK3CA, ERBB2

Anatomical Context for Ovarian Cancer, Somatic

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MalaCards organs/tissues related to Ovarian Cancer, Somatic:

33
Ovary, Lung, Cervix, Testes, Breast

Animal Models for Ovarian Cancer, Somatic or affiliated genes

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MGI Mouse Phenotypes related to Ovarian Cancer, Somatic:

38 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.3CDH1, CTNNB1, KRAS, NEU1, OPCML, PARK2
2MP:00053717.8BRCA1, BRCA2, CTNNB1, ERBB2, KRAS, PALB2
3MP:00053887.8AKT1, BRCA1, CTNNB1, ERBB2, KRAS, MUT
4MP:00053697.7AKT1, BRCA1, CTNNB1, ERBB2, KRAS, NEU1
5MP:00028737.6AKT1, BRCA1, BRCA2, CDH1, CTNNB1, ERBB2
6MP:00053817.4BRCA1, BRCA2, CDH1, CTNNB1, ERBB2, KRAS
7MP:00053897.4AKT1, BRCA1, BRCA2, CDH1, CTNNB1, ERBB2
8MP:00053797.1AKT1, BRCA1, BRCA2, CDH1, CTNNB1, ERBB2
9MP:00053807.0AKT1, BRCA1, BRCA2, CDH1, CTNNB1, ERBB2
10MP:00053906.7AKT1, BRCA1, BRCA2, CTNNB1, ERBB2, KRAS
11MP:00053866.7AKT1, BRCA1, BRCA2, CTNNB1, ERBB2, KRAS
12MP:00020066.5AKT1, BRCA1, BRCA2, CDH1, CTNNB1, ERBB2
13MP:00107716.3AKT1, BRCA1, BRCA2, CDH1, CTNNB1, ERBB2
14MP:00036316.2AKT1, BRCA1, BRCA2, CTNNB1, ERBB2, KRAS
15MP:00053766.1AKT1, BRCA1, BRCA2, CDH1, CTNNB1, ERBB2
16MP:00053845.8AKT1, BRCA1, BRCA2, CDH1, CTNNB1, ERBB2
17MP:00053875.7AKT1, BRCA1, BRCA2, CDH1, CTNNB1, KRAS
18MP:00053855.7AKT1, BRCA1, CDH1, CTNNB1, ERBB2, KRAS
19MP:00107685.6AKT1, BRCA1, BRCA2, CDH1, CTNNB1, ERBB2
20MP:00053785.0AKT1, BRCA1, BRCA2, CDH1, CTNNB1, ERBB2

Publications for Ovarian Cancer, Somatic

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Variations for Ovarian Cancer, Somatic

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UniProtKB/Swiss-Prot genetic disease variations for Ovarian Cancer, Somatic:

67
id Symbol AA change Variation ID SNP ID
1BRCA1p.Cys61GlyVAR_007757rs28897672
2BRCA1p.Cys1697ArgVAR_020702
3BRCA1p.Arg1699TrpVAR_075666
4CTNNB1p.Ser37CysVAR_017625
5CTNNB1p.Thr41IleVAR_017630
6OPCMLp.Pro95ArgVAR_055421
7PIK3CAp.His1047ArgVAR_026192

Clinvar genetic disease variations for Ovarian Cancer, Somatic:

5 (show all 39)
id Gene Variation Type Significance SNP ID Assembly Location
1KRASNM_033360.3(KRAS): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs121913529GRCh37Chr 12, 25398284: 25398284
2KRASNM_033360.3(KRAS): c.34G> A (p.Gly12Ser)single nucleotide variantPathogenicrs121913530GRCh37Chr 12, 25398285: 25398285
3PALB2NM_024675.3(PALB2): c.1050_1053delAACA (p.Thr351Argfs)deletionPathogenicrs515726060GRCh38Chr 16, 23635493: 23635496
4PIK3CANM_006218.2(PIK3CA): c.3140A> G (p.His1047Arg)single nucleotide variantPathogenicrs121913279GRCh37Chr 3, 178952085: 178952085
5PIK3CANM_006218.2(PIK3CA): c.1634A> C (p.Glu545Ala)single nucleotide variantPathogenicrs121913274GRCh37Chr 3, 178936092: 178936092
6ERBB2NM_001005862.2(ERBB2): c.2480A> G (p.Asn827Ser)single nucleotide variantPathogenicrs28933370GRCh37Chr 17, 37881378: 37881378
7AKT1NM_005163.2(AKT1): c.49G> A (p.Glu17Lys)single nucleotide variantPathogenicrs121434592GRCh37Chr 14, 105246551: 105246551
8NC_012920.1: m.14743A> Gsingle nucleotide variantLikely pathogenicrs527236161GRCh37Chr MT, 14743: 14743
9MT-CYBNC_012920.1: m.14753C> Tsingle nucleotide variantLikely pathogenicrs527236162GRCh38Chr MT, 14753: 14753
10MT-CYBNC_012920.1: m.14784T> Csingle nucleotide variantLikely pathogenicrs527236163GRCh37Chr MT, 14784: 14784
11MT-CYBNC_012920.1: m.15058C> Tsingle nucleotide variantLikely pathogenicrs527236171GRCh37Chr MT, 15058: 15058
12MT-CYBNC_012920.1: m.15098A> Gsingle nucleotide variantLikely pathogenicrs527236172GRCh37Chr MT, 15098: 15098
13MT-CYBNC_012920.1: m.15314G> Asingle nucleotide variantLikely pathogenicrs527236176GRCh37Chr MT, 15314: 15314
14MT-CYBNC_012920.1: m.15328A> Gsingle nucleotide variantLikely pathogenicrs527236178GRCh37Chr MT, 15328: 15328
15MT-CYBNC_012920.1: m.15334C> Tsingle nucleotide variantLikely pathogenicrs527236179GRCh37Chr MT, 15334: 15334
16MT-CYBNC_012920.1: m.15363A> Gsingle nucleotide variantLikely pathogenicrs527236182GRCh37Chr MT, 15363: 15363
17MT-CYBNC_012920.1: m.15453T> Csingle nucleotide variantLikely pathogenicrs527236184GRCh37Chr MT, 15453: 15453
18MT-CYBNC_012920.1: m.15459C> Tsingle nucleotide variantLikely pathogenicrs527236186GRCh37Chr MT, 15459: 15459
19MT-CYBNC_012920.1: m.15511T> Csingle nucleotide variantLikely pathogenicrs527236188GRCh37Chr MT, 15511: 15511
20MT-CYBNC_012920.1: m.15884G> Asingle nucleotide variantLikely pathogenicrs527236195GRCh37Chr MT, 15884: 15884
21MT-TTNC_012920.1: m.15890C> Asingle nucleotide variantLikely pathogenicrs527236196GRCh37Chr MT, 15890: 15890
22MT-TTNC_012920.1: m.15928G> Asingle nucleotide variantLikely pathogenicrs527236198GRCh37Chr MT, 15928: 15928
23MT-TTNC_012920.1: m.15932T> Gsingle nucleotide variantLikely pathogenicrs527236199GRCh37Chr MT, 15932: 15932
24MT-TTNC_012920.1: m.15943T> Csingle nucleotide variantLikely pathogenicrs527236200GRCh37Chr MT, 15943: 15943
25MT-CYBNC_012920.1: m.15061A> Gsingle nucleotide variantLikely pathogenicrs527236205GRCh37Chr MT, 15061: 15061
26MT-CYBNC_012920.1: m.15148G> Asingle nucleotide variantLikely pathogenicrs527236206GRCh37Chr MT, 15148: 15148
27MT-CYBNC_012920.1: m.15259C> Tsingle nucleotide variantLikely pathogenicrs527236207GRCh37Chr MT, 15259: 15259
28MT-CYBNC_012920.1: m.15431G> Asingle nucleotide variantLikely pathogenicrs193302993GRCh37Chr MT, 15431: 15431
29MT-CYBNC_012920.1: m.15452C> Asingle nucleotide variantLikely pathogenicrs193302994GRCh37Chr MT, 15452: 15452
30MT-CYBNC_012920.1: m.15607A> Gsingle nucleotide variantLikely pathogenicrs193302996GRCh37Chr MT, 15607: 15607
31MT-CYBNC_012920.1: m.15670T> Csingle nucleotide variantLikely pathogenicrs193302997GRCh37Chr MT, 15670: 15670
32CTNNB1NM_001904.3(CTNNB1): c.110C> G (p.Ser37Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121913403GRCh37Chr 3, 41266113: 41266113
33PIK3CANM_006218.2(PIK3CA): c.1624G> A (p.Glu542Lys)single nucleotide variantPathogenicrs121913273GRCh37Chr 3, 178936082: 178936082
34PIK3CANM_006218.2(PIK3CA): c.1258T> C (p.Cys420Arg)single nucleotide variantPathogenicrs121913272GRCh37Chr 3, 178927980: 178927980
35BRCA2NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter)single nucleotide variantPathogenicrs41293497GRCh37Chr 13, 32914174: 32914174
36PIK3CANM_006218.2(PIK3CA): c.1637A> G (p.Gln546Arg)single nucleotide variantPathogenicrs397517201GRCh37Chr 3, 178936095: 178936095
37PARK2PARK2, DELdeletionPathogenic
38OPCMLNM_001012393.2(OPCML): c.263C> G (p.Pro88Arg)single nucleotide variantPathogenicrs137852691GRCh37Chr 11, 132527098: 132527098
39RRAS2NM_001177314.1(RRAS2): c.110A> T (p.Gln37Leu)single nucleotide variantPathogenicrs113954997GRCh37Chr 11, 14316390: 14316390

Cosmic variations for Ovarian Cancer, Somatic:

7 (show top 50)    (show all 69)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM53232EGFRovary,NS,carcinoma,adenocarcinoma3
2COSM53232EGFRovary,NS,carcinoma,adenocarcinoma3
3COSM53232EGFRovary,NS,carcinoma,adenocarcinoma3
4COSM53235EGFRovary,NS,carcinoma,adenocarcinoma3
5COSM53235EGFRovary,NS,carcinoma,adenocarcinoma3
6COSM53265EGFRovary,NS,carcinoma,adenocarcinoma3
7COSM53235EGFRovary,NS,carcinoma,adenocarcinoma3
8COSM53231EGFRovary,NS,carcinoma,adenocarcinoma3
9COSM53231EGFRovary,NS,carcinoma,adenocarcinoma3
10COSM53229EGFRovary,NS,carcinoma,adenocarcinoma3
11COSM53229EGFRovary,NS,carcinoma,adenocarcinoma3
12COSM53230EGFRovary,NS,carcinoma,adenocarcinoma3
13COSM53230EGFRovary,NS,carcinoma,adenocarcinoma3
14COSM53231EGFRovary,NS,carcinoma,adenocarcinoma3
15COSM53230EGFRovary,NS,carcinoma,adenocarcinoma3
16COSM53265EGFRovary,NS,carcinoma,adenocarcinoma3
17COSM53265EGFRovary,NS,carcinoma,adenocarcinoma3
18COSM53264EGFRovary,NS,carcinoma,adenocarcinoma3
19COSM53264EGFRovary,NS,carcinoma,adenocarcinoma3
20COSM12373EGFRovary,NS,carcinoma,adenocarcinoma3
21COSM53264EGFRovary,NS,carcinoma,adenocarcinoma3
22COSM28286EGFRovary,NS,carcinoma,adenocarcinoma3
23COSM28286EGFRovary,NS,carcinoma,adenocarcinoma3
24COSM28286EGFRovary,NS,carcinoma,adenocarcinoma3
25COSM12373EGFRovary,NS,carcinoma,adenocarcinoma3
26COSM12373EGFRovary,NS,carcinoma,adenocarcinoma3
27COSM53266EGFRovary,NS,carcinoma,adenocarcinoma3
28COSM53266EGFRovary,NS,carcinoma,adenocarcinoma3
29COSM53266EGFRovary,NS,carcinoma,adenocarcinoma3
30COSM12373EGFRovary,NS,carcinoma,adenocarcinoma3
31COSM12373EGFRovary,NS,carcinoma,adenocarcinoma3
32COSM12373EGFRovary,NS,carcinoma,adenocarcinoma3
33COSM53229EGFRovary,NS,carcinoma,adenocarcinoma3
34COSM53228EGFRovary,NS,carcinoma,adenocarcinoma3
35COSM28511EGFRovary,NS,carcinoma,adenocarcinoma3
36COSM28511EGFRovary,NS,carcinoma,adenocarcinoma3
37COSM28511EGFRovary,NS,carcinoma,adenocarcinoma3
38COSM28511EGFRovary,NS,carcinoma,adenocarcinoma3
39COSM28511EGFRovary,NS,carcinoma,adenocarcinoma3
40COSM53213EGFRovary,NS,carcinoma,adenocarcinoma3
41COSM28511EGFRovary,NS,carcinoma,adenocarcinoma3
42COSM28511EGFRovary,NS,carcinoma,adenocarcinoma3
43COSM28511EGFRovary,NS,carcinoma,adenocarcinoma3
44COSM6224EGFRovary,NS,carcinoma,adenocarcinoma3
45COSM6224EGFRovary,NS,carcinoma,adenocarcinoma3
46COSM22992EGFRovary,NS,carcinoma,adenocarcinoma3
47COSM22992EGFRovary,NS,carcinoma,adenocarcinoma3
48COSM28511EGFRovary,NS,carcinoma,adenocarcinoma3
49COSM22992EGFRovary,NS,carcinoma,adenocarcinoma3
50COSM53213EGFRovary,NS,carcinoma,adenocarcinoma3

Expression for genes affiliated with Ovarian Cancer, Somatic

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Search GEO for disease gene expression data for Ovarian Cancer, Somatic.

Pathways for genes affiliated with Ovarian Cancer, Somatic

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Pathways related to Ovarian Cancer, Somatic according to GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7AKT1, ERBB2, PIK3CA
2
Show member pathways
9.6AKT1, CTNNB1, PIK3CA
39.6AKT1, CDH1, PIK3CA
49.6AKT1, CDH1, PIK3CA
59.5CDH1, CTNNB1, PIK3CA
69.5CDH1, CTNNB1, PIK3CA
79.5CDH1, CTNNB1, ERBB2
89.4AKT1, BRCA1, CTNNB1
99.4AKT1, BRCA1, CTNNB1
10
Show member pathways
9.4AKT1, CTNNB1, ERBB2, PIK3CA
11
Show member pathways
9.3AKT1, CTNNB1, ERBB2, PIK3CA
129.3AKT1, CDH1, ERBB2, PIK3CA
139.3AKT1, CTNNB1, KRAS
149.2AKT1, CDH1, CTNNB1, PIK3CA
159.2AKT1, CDH1, CTNNB1, ERBB2
169.2CDH1, ERBB2, KRAS
179.1CDH1, CTNNB1, KRAS
18
Show member pathways
9.1AKT1, ERBB2, KRAS, PIK3CA
19
Show member pathways
9.1AKT1, ERBB2, KRAS, PIK3CA
20
Show member pathways
9.1AKT1, ERBB2, KRAS, PIK3CA
21
Show member pathways
9.1AKT1, ERBB2, KRAS, PIK3CA
229.1AKT1, ERBB2, KRAS, PIK3CA
239.0ERBB2, KRAS, RRAS2
249.0AKT1, CTNNB1, KRAS, PIK3CA
259.0AKT1, CTNNB1, KRAS, PIK3CA
268.9AKT1, CDH1, CTNNB1, KRAS
27
Show member pathways
8.8AKT1, KRAS, PIK3CA, RRAS2
28
Show member pathways
8.8AKT1, KRAS, PIK3CA, RRAS2
29
Show member pathways
8.8AKT1, KRAS, PIK3CA, RRAS2
30
Show member pathways
8.8AKT1, KRAS, PIK3CA, RRAS2
318.8BRCA1, ERBB2, KRAS, PIK3CA
32
Show member pathways
8.7AKT1, CTNNB1, KRAS, RRAS2
338.7AKT1, CTNNB1, KRAS, RRAS2
348.7AKT1, CTNNB1, KRAS, RRAS2
35
Show member pathways
8.7AKT1, CTNNB1, ERBB2, KRAS, PIK3CA
36
Show member pathways
8.7BRCA1, BRCA2, PALB2
378.5AKT1, CTNNB1, KRAS, PIK3CA, RRAS2
38
Show member pathways
8.5AKT1, BRCA1, CTNNB1, KRAS, PIK3CA
398.3AKT1, CDH1, CTNNB1, KRAS, RRAS2
40
Show member pathways
8.3AKT1, CDH1, CTNNB1, ERBB2, KRAS, PIK3CA
41
Show member pathways
8.3AKT1, CDH1, CTNNB1, ERBB2, KRAS, PIK3CA
42
Show member pathways
8.2AKT1, BRCA2, ERBB2, KRAS, PIK3CA
43
Show member pathways
8.2AKT1, CTNNB1, ERBB2, KRAS, PIK3CA, RRAS2
448.2AKT1, CTNNB1, ERBB2, KRAS, PIK3CA, RRAS2
45
Show member pathways
8.1AKT1, CDH1, CTNNB1, KRAS, PIK3CA, RRAS2
46
Show member pathways
7.8AKT1, CDH1, CTNNB1, ERBB2, KRAS, PIK3CA
477.5AKT1, BRCA1, BRCA2, CDH1, CTNNB1, KRAS
487.5AKT1, BRCA2, CDH1, CTNNB1, ERBB2, KRAS
497.4AKT1, BRCA1, BRCA2, CTNNB1, ERBB2, KRAS
50
Show member pathways
7.0AKT1, BRCA1, BRCA2, CDH1, CTNNB1, ERBB2

GO Terms for genes affiliated with Ovarian Cancer, Somatic

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Biological processes related to Ovarian Cancer, Somatic according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1protein kinase B signalingGO:004349110.4AKT1, PIK3CA
2cellular response to indole-3-methanolGO:007168110.3CDH1, CTNNB1
3cellular response to lithium ionGO:007128510.2CDH1, CTNNB1
4striated muscle cell differentiationGO:005114610.1AKT1, KRAS
5positive regulation of nitric-oxide synthase activityGO:005100010.1AKT1, KRAS
6androgen receptor signaling pathwayGO:00305219.9BRCA1, CTNNB1
7negative regulation of neuron apoptotic processGO:00435249.6KRAS, PARK2, PIK3CA
8positive regulation of histone H3-K4 methylationGO:00515719.6BRCA1, CTNNB1
9negative regulation of gene expressionGO:00106299.5AKT1, CTNNB1, PARK2
10inner cell mass cell proliferationGO:00018339.5BRCA2, PALB2
11DNA synthesis involved in DNA repairGO:00007319.4BRCA1, BRCA2
12strand displacementGO:00007329.4BRCA2, PALB2
13ERBB2 signaling pathwayGO:00381289.4AKT1, ERBB2, KRAS, PIK3CA
14DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00069789.4BRCA1, BRCA2
15fibroblast growth factor receptor signaling pathwayGO:00085439.2AKT1, ERBB2, KRAS, PIK3CA
16chordate embryonic developmentGO:00430099.1BRCA1, BRCA2
17double-strand break repair via homologous recombinationGO:00007249.0BRCA1, BRCA2, PALB2
18double-strand break repair via synthesis-dependent strand annealingGO:00450038.9BRCA1, BRCA2, PALB2
19insulin receptor signaling pathwayGO:00082868.8AKT1, ERBB2, KRAS, PIK3CA

Sources for Ovarian Cancer, Somatic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet