OC
MCID: OVR078
MIFTS: 50

Ovarian Cancer, Somatic (OC) malady

Categories: Genetic diseases, Cancer diseases

Aliases & Classifications for Ovarian Cancer, Somatic

Aliases & Descriptions for Ovarian Cancer, Somatic:

Name: Ovarian Cancer, Somatic 54 24 13
Adenocarcinoma, Ovarian, Somatic 54 13
Epithelial Ovarian Cancer 66 69
Malignant Neoplasm of Ovary 69
Ovarian Carcinoma, Somatic 54
Ovarian Carcinoma 69
Ovarian Cancer 66
Oc 66

Characteristics:

HPO:

32
ovarian cancer, somatic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 167000
MeSH 42 D010051

Summaries for Ovarian Cancer, Somatic

OMIM : 54 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 glossopharyngeal motor neuropathy and diphallia, and has symptoms including abnormality of metabolism/homeostasis, breast carcinoma and dysgerminoma. An important gene associated with Ovarian Cancer, Somatic is OPCML (Opioid Binding Protein/Cell Adhesion Molecule Like), and among its related pathways/superpathways are TGF-Beta Pathway and PAK Pathway. The drugs Olaparib and Poly(ADP-ribose) Polymerase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include ovary and breast, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and cellular

UniProtKB/Swiss-Prot : 66 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

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

(show top 50) (show all 87)
id Related Disease Score Top Affiliating Genes
1 glossopharyngeal motor neuropathy 10.2 CDH1 ERBB2
2 diphallia 10.2 CDH1 ERBB2
3 reactive arthritis 10.2 CTNNB1 ERBB2 PIK3CA
4 adult syndrome 10.2 CTNNB1 KRAS PIK3CA
5 progesterone-receptor negative breast cancer 10.2 AKT1 ERBB2 PIK3CA
6 substance abuse 10.2 CDH1 CTNNB1 ERBB2
7 keratosis linearis with ichthyosis congenita and sclerosing keratoderma 10.2 BRCA2 PIK3CA
8 spongiotic dermatitis 10.2 ERBB2 KRAS PIK3CA
9 vascular hemostatic disease 10.1 ERBB2 KRAS PIK3CA
10 spastic diplegia infantile type 10.1 CTNNB1 ERBB2 KRAS
11 breast ductal carcinoma 10.1 CTNNB1 KRAS
12 ideomotor apraxia 10.1 CDH1 CTNNB1 KRAS
13 advanced sleep phase syndrome 10.1 CDH1 CTNNB1 KRAS
14 prostatic adenoma 10.1 CTNNB1 ERBB2 KRAS
15 melanocytic nevus syndrome, congenital, somatic 10.1 KRAS PIK3CA
16 oral squamous cell carcinoma 10.1 CDH1 CTNNB1 KRAS
17 gastroesophageal junction adenocarcinoma 10.1 CDH1 CTNNB1 KRAS
18 casp10-related autoimmune lymphoproliferative syndrome 10.1 BRCA2 PIK3CA
19 uterine corpus endometrial stromal sarcoma 10.1 BRCA1 KRAS PIK3CA
20 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 10.1 CDH1 ERBB2 KRAS
21 histiocytic and dendritic cell cancer 10.1 BRCA1 ERBB2
22 urethral cancer 10.1 KRAS PIK3CA
23 aorto-ventricular tunnel 10.1 BRCA1 BRCA2
24 benign shuddering attacks 10.1 AKT1 CDH1 KRAS
25 osteopetrosis 10.1
26 solitary plasmacytoma of chest wall 10.1 CDH1 CTNNB1 ERBB2
27 monoclonal paraproteinemia 10.1 CDH1 CTNNB1 KRAS
28 in situ pulmonary adenocarcinoma 10.1 AKT1 CDH1 CTNNB1
29 burn scar 10.0 BRCA1 BRCA2
30 lethal congenital contracture syndrome 7 10.0 BRCA1 BRCA2
31 gastric cancer, somatic 10.0 CDH1 ERBB2 KRAS PIK3CA
32 autoimmune disease of cardiovascular system 10.0 BRCA1 BRCA2
33 heart malignant hemangiopericytoma 10.0 BRCA1 BRCA2
34 facial dermatosis 10.0 CDH1 CTNNB1 ERBB2 KRAS
35 peritoneal mesothelioma 10.0 CDH1 CTNNB1 KRAS PIK3CA
36 ladd syndrome 10.0 CDH1 ERBB2 KRAS PIK3CA
37 congenital bile acid synthesis defect 10.0 BRCA2 ERBB2 PALB2
38 macrocytic anemia 10.0 CTNNB1 KRAS
39 glycogen storage disease 10.0 CDH1 CTNNB1 ERBB2 KRAS
40 mediastinum synovial sarcoma 10.0 BRCA1 BRCA2 PIK3CA
41 kunjin encephalitis 10.0 BRCA1 BRCA2 ERBB2
42 lung clear cell-sugar-tumor 10.0 BRCA1 BRCA2 ERBB2
43 breast malignant phyllodes tumor 10.0 BRCA1 CDH1 CTNNB1 ERBB2
44 bladder colloid adenocarcinoma 10.0 BRCA1 BRCA2 ERBB2
45 polyembryoma of the ovary 10.0 BRCA1 BRCA2 ERBB2
46 fallopian tube carcinosarcoma 10.0 BRCA1 BRCA2 ERBB2
47 immunodeficiency due to a late component of complement deficiency 10.0 BRCA1 BRCA2 ERBB2
48 metagonimiasis 9.9 BRCA1 BRCA2 ERBB2
49 pituitary stalk meningioma 9.9 BRCA1 BRCA2 ERBB2
50 bacteremia 9.9 BRCA1 BRCA2 PALB2

Comorbidity relations with Ovarian Cancer, Somatic via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Fallopian Tube Carcinoma Hydronephrosis
Intestinal Obstruction Neutropenia
Paralytic Ileus Peritoneum Cancer
Protein-Energy Malnutrition Uterine Fibroid

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



Diseases related to Ovarian Cancer, Somatic

Symptoms & Phenotypes for Ovarian Cancer, Somatic

Symptoms by clinical synopsis from OMIM:

167000

Clinical features from OMIM:

167000

Human phenotypes related to Ovarian Cancer, Somatic:

32
id Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 breast carcinoma 32 HP:0003002
3 dysgerminoma 32 HP:0100621
4 ovarian papillary adenocarcinoma 32 HP:0006774

UMLS symptoms related to Ovarian Cancer, Somatic:


pelvic pain

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.36 AKT1 BRCA1 BRCA2 PALB2 PRKN
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.36 AKT1 BRCA1 BRCA2 BRIP1 PALB2 PRKN
3 Decreased viability with cisplatin GR00101-A-4 9.33 BRCA1 BRCA2 BRIP1
4 Synthetic lethal with cisplatin GR00101-A-1 9.13 BRIP1 BRCA1 BRCA2

MGI Mouse Phenotypes related to Ovarian Cancer, Somatic:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 BRCA1 BRCA2 BRIP1 CDH1 CTNNB1 ERBB2
2 cardiovascular system MP:0005385 10.27 AKT1 BRCA1 CDH1 CTNNB1 ERBB2 KRAS
3 growth/size/body region MP:0005378 10.26 AKT1 BRCA1 BRCA2 CDH1 CTNNB1 ERBB2
4 homeostasis/metabolism MP:0005376 10.21 AKT1 CDH1 CTNNB1 ERBB2 KRAS PIK3CA
5 embryo MP:0005380 10.2 AKT1 BRCA1 BRCA2 CDH1 CTNNB1 ERBB2
6 endocrine/exocrine gland MP:0005379 10.19 AKT1 BRCA1 BRCA2 BRIP1 CDH1 CTNNB1
7 integument MP:0010771 10.19 AKT1 BRCA1 BRCA2 CDH1 CTNNB1 ERBB2
8 mortality/aging MP:0010768 10.16 AKT1 BRCA1 BRCA2 CDH1 CTNNB1 ERBB2
9 neoplasm MP:0002006 10.14 BRCA2 BRIP1 CDH1 CTNNB1 ERBB2 KRAS
10 nervous system MP:0003631 10.07 PALB2 PIK3CA PRKN AKT1 BRCA1 BRCA2
11 digestive/alimentary MP:0005381 10.03 BRCA1 BRCA2 CDH1 CTNNB1 ERBB2 KRAS
12 muscle MP:0005369 9.98 AKT1 BRCA1 CTNNB1 ERBB2 KRAS PIK3CA
13 limbs/digits/tail MP:0005371 9.95 BRCA1 BRCA2 CTNNB1 ERBB2 KRAS PALB2
14 reproductive system MP:0005389 9.81 AKT1 BRCA1 BRCA2 BRIP1 CDH1 PIK3CA
15 no phenotypic analysis MP:0003012 9.8 CDH1 CTNNB1 KRAS OPCML PIK3CA PRKN
16 normal MP:0002873 9.8 AKT1 BRCA1 BRCA2 CDH1 CTNNB1 ERBB2
17 respiratory system MP:0005388 9.43 AKT1 BRCA1 CTNNB1 ERBB2 KRAS PRKN
18 skeleton MP:0005390 9.23 AKT1 BRCA1 BRCA2 CTNNB1 ERBB2 KRAS

Drugs & Therapeutics for Ovarian Cancer, Somatic

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

(show all 24)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Olaparib Approved Phase 4,Phase 3,Phase 2,Phase 1 763113-22-0 23725625
2 Poly(ADP-ribose) Polymerase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
3
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757 53477783
4
Fulvestrant Approved, Investigational Phase 2 129453-61-8 104741 17756771
5
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
6
Rucaparib Approved, Investigational Phase 1, Phase 2 283173-50-2 9931954
7
Veliparib Investigational Phase 2 912444-00-9 11960529
8 Albumin-Bound Paclitaxel Phase 2
9 Antimitotic Agents Phase 2
10 Antineoplastic Agents, Hormonal Phase 2
11 Antineoplastic Agents, Phytogenic Phase 2
12 Estradiol 17 beta-cypionate Phase 2
13 Estradiol 3-benzoate Phase 2
14 Estradiol valerate Phase 2 979-32-8
15 Estrogen Antagonists Phase 2
16 Estrogen Receptor Antagonists Phase 2
17 Estrogens Phase 2
18 Hormone Antagonists Phase 2
19 Hormones Phase 2
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
21 Mitogens Phase 2
22 Polyestradiol phosphate Phase 2
23 Talazoparib Phase 2
24 Kava Nutraceutical 9000-38-8

Interventional clinical trials:

(show all 19)
id Name Status NCT ID Phase
1 To Assess the Efficacy and Safety of Olaparib Maintenance Monotherapy in the Treatment of Ovarian Cancer Recruiting NCT02476968 Phase 4
2 Olaparib 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 Mutations Withdrawn NCT02392676 Phase 3
3 Olaparib Tablets as a Treatment for Ovarian Cancer Subjects With Different HRD Tumor Status Recruiting NCT02983799 Phase 2
4 An 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 Amplification Recruiting NCT01953926 Phase 2
5 A Study of Oral Rucaparib in Patients With a Solid Tumor (Phase I) or With gBRCA Mutation Ovarian Cancer (Phase II) Active, not recruiting NCT01482715 Phase 1, Phase 2
6 Phase II Study of BMN 673 Active, not recruiting NCT02286687 Phase 2
7 Response to PARP Inhibitor Predicted by the RAD51 Assay Not yet recruiting NCT03044795 Phase 2
8 Selumetinib and Olaparib in Solid Tumors Not yet recruiting NCT03162627 Phase 1
9 BRCA 1/2 Mutation in Korean Patients With Epithelial Ovarian Cancer Completed NCT02963688
10 Live After an Epithelial Ovarian Cancer: Multidisciplinary Assessment of Effects and Long-term Remission in Patients Needs. Completed NCT02323568
11 FLABRA: Frontline Approach for BRCA Testing in OC Treatment naïve Population. A LATIN AMERICA Epidemiologic Study Recruiting NCT02984423
12 Lavage of the Uterine Cavity for the Diagnosis of Ovarian and Tubal Carcinoma - Study of Sensitivity and Specificity Recruiting NCT02518256
13 Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation Recruiting NCT02664389
14 Clinical Significance of Germline BRCA Mutations Recruiting NCT00579488
15 EXPRESS: EXcePtional RESponSe - Exceptional and Unexpected Response to Targeted Therapies Recruiting NCT02701907
16 A Study of Long-Term Responders on Olaparib Recruiting NCT02489058
17 Prevalence of BRCA in Patients With Ovarian Cancer Active, not recruiting NCT02222883
18 Prevalence of BRCA1 and BRCA2 Mutations in Ovarian Cancer Patients in the Gulf Region Not yet recruiting NCT03082976
19 Inherited Susceptible Genes Among Epithelial Ovarian Cancer Not yet recruiting NCT03015376

Search NIH Clinical Center for Ovarian Cancer, Somatic

Genetic Tests for Ovarian Cancer, Somatic

Genetic tests related to Ovarian Cancer, Somatic:

id Genetic test Affiliating Genes
1 Ovarian Cancer, Somatic 24 AKT1 PIK3CA ERBB2

Anatomical Context for Ovarian Cancer, Somatic

MalaCards organs/tissues related to Ovarian Cancer, Somatic:

39
Ovary, Breast

Publications for Ovarian Cancer, Somatic

Variations for Ovarian Cancer, Somatic

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

66
id Symbol AA change Variation ID SNP ID
1 BRCA1 p.Cys61Gly VAR_007757 rs28897672
2 BRCA1 p.Cys1697Arg VAR_020702 rs80356993
3 BRCA1 p.Arg1699Trp VAR_075666 rs55770810
4 CTNNB1 p.Ser37Cys VAR_017625 rs121913403
5 CTNNB1 p.Thr41Ile VAR_017630 rs121913413
6 OPCML p.Pro95Arg VAR_055421 rs137852691
7 PIK3CA p.His1047Arg VAR_026192 rs121913279

ClinVar genetic disease variations for Ovarian Cancer, Somatic:

6 (show top 50) (show all 53)
id Gene Variation Type Significance SNP ID Assembly Location
1 PRKN PARK2, DEL deletion Pathogenic
2 OPCML NM_001012393.2(OPCML): c.263C> G (p.Pro88Arg) single nucleotide variant Pathogenic rs137852691 GRCh37 Chromosome 11, 132527098: 132527098
3 RRAS2 NM_001177314.1(RRAS2): c.110A> T (p.Gln37Leu) single nucleotide variant Pathogenic rs113954997 GRCh38 Chromosome 11, 14294844: 14294844
4 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
5 KRAS NM_033360.3(KRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs121913530 GRCh37 Chromosome 12, 25398285: 25398285
6 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
7 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 GRCh37 Chromosome 3, 178936091: 178936091
8 PIK3CA NM_006218.3(PIK3CA): c.1636C> A (p.Gln546Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh37 Chromosome 3, 178936094: 178936094
9 PIK3CA NM_006218.3(PIK3CA): c.1634A> C (p.Glu545Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
10 ERBB2 NM_001005862.2(ERBB2): c.2480A> G (p.Asn827Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28933370 GRCh37 Chromosome 17, 37881378: 37881378
11 AKT1 NM_005163.2(AKT1): c.49G> A (p.Glu17Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121434592 GRCh37 Chromosome 14, 105246551: 105246551
12 CTNNB1 NM_001904.3(CTNNB1): c.110C> G (p.Ser37Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
13 BRCA1 NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs) duplication Pathogenic rs80357906 GRCh37 Chromosome 17, 41209082: 41209082
14 PIK3CA NM_006218.3(PIK3CA): c.1624G> A (p.Glu542Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913273 GRCh37 Chromosome 3, 178936082: 178936082
15 PIK3CA NM_006218.3(PIK3CA): c.1258T> C (p.Cys420Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121913272 GRCh37 Chromosome 3, 178927980: 178927980
16 BRCA1 NM_007294.3(BRCA1): c.1687C> T (p.Gln563Ter) single nucleotide variant Pathogenic rs80356898 GRCh37 Chromosome 17, 41245861: 41245861
17 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh37 Chromosome 13, 32914174: 32914174
18 PIK3CA NM_006218.3(PIK3CA): c.1637A> G (p.Gln546Arg) single nucleotide variant Pathogenic/Likely pathogenic rs397517201 GRCh37 Chromosome 3, 178936095: 178936095
19 BRCA2 NM_000059.3(BRCA2): c.7806-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs81002836 GRCh37 Chromosome 13, 32936658: 32936658
20 BRCA1 NM_007294.3(BRCA1): c.3375_3376delTC (p.Pro1126Ilefs) deletion Pathogenic rs80357828 GRCh37 Chromosome 17, 41244172: 41244173
21 BRCA1 NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp) single nucleotide variant Pathogenic rs55770810 GRCh37 Chromosome 17, 41215948: 41215948
22 PALB2 NM_024675.3(PALB2): c.1050_1053delAACA (p.Thr351Argfs) deletion Pathogenic rs515726060 GRCh38 Chromosome 16, 23635493: 23635496
23 BRIP1 NM_032043.2(BRIP1): c.2038_2039dupTT (p.Leu680Phefs) duplication Pathogenic/Likely pathogenic rs587778134 GRCh37 Chromosome 17, 59853820: 59853821
24 BRIP1 NM_032043.2(BRIP1): c.1240C> T (p.Gln414Ter) single nucleotide variant Pathogenic/Likely pathogenic rs368796923 GRCh37 Chromosome 17, 59876561: 59876561
25 BRIP1 NM_032043.2(BRIP1): c.1853_1854insG (p.Pro619Thrfs) insertion Pathogenic/Likely pathogenic rs587781985 GRCh37 Chromosome 17, 59857703: 59857704
26 BRIP1 NM_032043.2(BRIP1): c.2765T> G (p.Leu922Ter) single nucleotide variant Pathogenic rs587782410 GRCh38 Chromosome 17, 61685976: 61685976
27 NC_012920.1: m.14743A> G single nucleotide variant Likely pathogenic rs527236161 GRCh37 Chromosome MT, 14743: 14743
28 MT-CYB NC_012920.1: m.14753C> T single nucleotide variant Likely pathogenic rs527236162 GRCh38 Chromosome MT, 14753: 14753
29 MT-CYB NC_012920.1: m.14784T> C single nucleotide variant Likely pathogenic rs527236163 GRCh37 Chromosome MT, 14784: 14784
30 MT-CYB NC_012920.1: m.15058C> T single nucleotide variant Likely pathogenic rs527236171 GRCh37 Chromosome MT, 15058: 15058
31 MT-CYB NC_012920.1: m.15098A> G single nucleotide variant Likely pathogenic rs527236172 GRCh37 Chromosome MT, 15098: 15098
32 MT-CYB NC_012920.1: m.15314G> A single nucleotide variant Likely pathogenic rs527236176 GRCh37 Chromosome MT, 15314: 15314
33 MT-CYB NC_012920.1: m.15328A> G single nucleotide variant Likely pathogenic rs527236178 GRCh37 Chromosome MT, 15328: 15328
34 MT-CYB NC_012920.1: m.15334C> T single nucleotide variant Likely pathogenic rs527236179 GRCh37 Chromosome MT, 15334: 15334
35 MT-CYB NC_012920.1: m.15363A> G single nucleotide variant Likely pathogenic rs527236182 GRCh37 Chromosome MT, 15363: 15363
36 MT-CYB NC_012920.1: m.15453T> C single nucleotide variant Likely pathogenic rs527236184 GRCh37 Chromosome MT, 15453: 15453
37 MT-CYB NC_012920.1: m.15459C> T single nucleotide variant Likely pathogenic rs527236186 GRCh37 Chromosome MT, 15459: 15459
38 MT-CYB NC_012920.1: m.15884G> A single nucleotide variant Likely pathogenic rs527236195 GRCh37 Chromosome MT, 15884: 15884
39 MT-TT NC_012920.1: m.15890C> A single nucleotide variant Likely pathogenic rs527236196 GRCh37 Chromosome MT, 15890: 15890
40 MT-TT NC_012920.1: m.15928G> A single nucleotide variant Likely pathogenic rs527236198 GRCh37 Chromosome MT, 15928: 15928
41 MT-TT NC_012920.1: m.15932T> G single nucleotide variant Likely pathogenic rs527236199 GRCh37 Chromosome MT, 15932: 15932
42 MT-TT NC_012920.1: m.15943T> C single nucleotide variant Likely pathogenic rs527236200 GRCh37 Chromosome MT, 15943: 15943
43 MT-CYB NC_012920.1: m.15061A> G single nucleotide variant Likely pathogenic rs527236205 GRCh37 Chromosome MT, 15061: 15061
44 MT-CYB NC_012920.1: m.15148G> A single nucleotide variant Likely pathogenic rs527236206 GRCh37 Chromosome MT, 15148: 15148
45 MT-CYB NC_012920.1: m.15259C> T single nucleotide variant Likely pathogenic rs527236207 GRCh37 Chromosome MT, 15259: 15259
46 MT-CYB NC_012920.1: m.15431G> A single nucleotide variant Likely pathogenic rs193302993 GRCh37 Chromosome MT, 15431: 15431
47 MT-CYB NC_012920.1: m.15452C> A single nucleotide variant Likely pathogenic rs193302994 GRCh37 Chromosome MT, 15452: 15452
48 MT-CYB NC_012920.1: m.15607A> G single nucleotide variant Likely pathogenic rs193302996 GRCh37 Chromosome MT, 15607: 15607
49 MT-CYB NC_012920.1: m.15670T> C single nucleotide variant Likely pathogenic rs193302997 GRCh37 Chromosome MT, 15670: 15670
50 BRIP1 NM_032043.2(BRIP1): c.290_293delACAA (p.Asn97Metfs) deletion Pathogenic/Likely pathogenic rs763009188 GRCh37 Chromosome 17, 59934505: 59934508

Cosmic variations for Ovarian Cancer, Somatic:

9 (show all 20)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM760 PIK3CA ovary,NS,carcinoma,adenocarcinoma c.1624G>A p.E542K 5
2 COSM28511 EGFR ovary,NS,carcinoma,adenocarcinoma c.2108T>C p.L703P 5
3 COSM12373 EGFR ovary,NS,carcinoma,adenocarcinoma c.2159C>T p.S720F 5
4 COSM53235 EGFR ovary,NS,carcinoma,adenocarcinoma c.2481C>T p.Y827Y 5
5 COSM53224 EGFR ovary,NS,carcinoma,adenocarcinoma c.2173A>G p.T725A 5
6 COSM22992 EGFR ovary,NS,carcinoma,adenocarcinoma c.2161G>A p.G721S 5
7 COSM28286 EGFR ovary,NS,carcinoma,adenocarcinoma c.2494C>T p.R832C 5
8 COSM53225 EGFR ovary,NS,carcinoma,adenocarcinoma c.2112G>A p.L704L 5
9 COSM6224 EGFR ovary,NS,carcinoma,adenocarcinoma c.2573T>G p.L858R 5
10 COSM53228 EGFR ovary,NS,carcinoma,adenocarcinoma c.2123A>G p.K708R 5
11 COSM53232 EGFR ovary,NS,carcinoma,adenocarcinoma c.2122A>G p.K708E 5
12 COSM53266 EGFR ovary,NS,carcinoma,adenocarcinoma c.2165C>T p.A722V 5
13 COSM53229 EGFR ovary,NS,carcinoma,adenocarcinoma c.2232C>A p.I744I 5
14 COSM53213 EGFR ovary,NS,carcinoma,adenocarcinoma c.2604A>T p.E868D 5
15 COSM53231 EGFR ovary,NS,carcinoma,adenocarcinoma c.2559C>T p.I853I 5
16 COSM53230 EGFR ovary,NS,carcinoma,adenocarcinoma c.2597A>G p.E866G 5
17 COSM53265 EGFR ovary,NS,carcinoma,adenocarcinoma c.2556G>T p.K852N 5
18 COSM53226 EGFR ovary,NS,carcinoma,adenocarcinoma c.2099A>G p.N700S 5
19 COSM53264 EGFR ovary,NS,carcinoma,adenocarcinoma c.2174C>T p.T725M 5
20 COSM53227 EGFR ovary,NS,carcinoma,adenocarcinoma c.2506C>A p.R836S 5

Expression for Ovarian Cancer, Somatic

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

Pathways for Ovarian Cancer, Somatic

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

(show top 50) (show all 84)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 AKT1 BRCA1 CDH1 ERBB2 KRAS PIK3CA
2
Show member pathways
13.28 AKT1 CDH1 CTNNB1 ERBB2 KRAS RRAS2
3
Show member pathways
13.25 AKT1 CDH1 CTNNB1 ERBB2 KRAS RRAS2
4
Show member pathways
12.96 AKT1 CDH1 CTNNB1 KRAS RRAS2
5
Show member pathways
12.9 AKT1 CDH1 CTNNB1 KRAS RRAS2
6
Show member pathways
12.9 AKT1 BRCA1 BRCA2 BRIP1 KRAS RRAS2
7
Show member pathways
12.87 AKT1 CTNNB1 ERBB2 KRAS PIK3CA RRAS2
8
Show member pathways
12.85 AKT1 ERBB2 KRAS PIK3CA RRAS2
9
Show member pathways
12.78 AKT1 BRCA1 BRCA2 CDH1 CTNNB1 ERBB2
10
Show member pathways
12.74 AKT1 CDH1 CTNNB1 ERBB2 KRAS PIK3CA
11
Show member pathways
12.67 AKT1 CDH1 CTNNB1 KRAS PIK3CA RRAS2
12 12.58 AKT1 BRCA1 KRAS PIK3CA
13
Show member pathways
12.58 AKT1 CTNNB1 ERBB2 KRAS PIK3CA
14 12.51 BRCA1 ERBB2 KRAS PIK3CA
15
Show member pathways
12.5 AKT1 ERBB2 KRAS PIK3CA
16
Show member pathways
12.47 AKT1 ERBB2 KRAS PIK3CA
17
Show member pathways
12.43 AKT1 KRAS PIK3CA RRAS2
18
Show member pathways
12.42 AKT1 CTNNB1 ERBB2 KRAS PIK3CA
19
Show member pathways
12.4 AKT1 CTNNB1 KRAS RRAS2
20 12.4 AKT1 CTNNB1 KRAS PIK3CA RRAS2
21
Show member pathways
12.39 AKT1 KRAS PIK3CA RRAS2
22
Show member pathways
12.37 AKT1 BRCA1 CTNNB1 KRAS PIK3CA
23
Show member pathways
12.31 AKT1 ERBB2 KRAS PIK3CA
24 12.3 AKT1 BRCA2 CDH1 CTNNB1 ERBB2 KRAS
25
Show member pathways
12.29 AKT1 ERBB2 KRAS PIK3CA
26
Show member pathways
12.28 BRCA1 BRCA2 BRIP1 PALB2
27
Show member pathways
12.2 AKT1 KRAS PIK3CA RRAS2
28
Show member pathways
12.2 AKT1 CDH1 CTNNB1 ERBB2 KRAS PIK3CA
29 12.19 AKT1 CDH1 CTNNB1 KRAS
30
Show member pathways
12.15 BRCA1 BRCA2 BRIP1 PALB2
31
Show member pathways
12.15 AKT1 ERBB2 KRAS PIK3CA
32
Show member pathways
12.13 AKT1 CTNNB1 ERBB2 PIK3CA
33 12.1 AKT1 CTNNB1 KRAS PIK3CA
34 12.1 AKT1 CDH1 KRAS RRAS2
35 12.09 AKT1 KRAS PIK3CA
36 12.08 AKT1 CTNNB1 PIK3CA
37
Show member pathways
12.07 AKT1 KRAS PIK3CA
38 12.06 AKT1 KRAS PRKN
39
Show member pathways
12.06 AKT1 KRAS PIK3CA
40
Show member pathways
12.05 AKT1 ERBB2 KRAS
41 12.05 AKT1 KRAS PIK3CA
42 12.05 AKT1 KRAS PIK3CA RRAS2
43
Show member pathways
12.05 AKT1 BRCA2 ERBB2 KRAS PIK3CA
44
Show member pathways
12.04 AKT1 KRAS RRAS2
45 12.04 AKT1 CTNNB1 ERBB2 KRAS PIK3CA RRAS2
46
Show member pathways
12.02 AKT1 CTNNB1 PIK3CA
47
Show member pathways
12.02 AKT1 ERBB2 PIK3CA
48
Show member pathways
12.01 AKT1 KRAS RRAS2
49
Show member pathways
12 AKT1 CDH1 CTNNB1 ERBB2 KRAS PIK3CA
50 11.99 AKT1 KRAS PIK3CA

GO Terms for Ovarian Cancer, Somatic

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

id Name GO ID Score Top Affiliating Genes
1 apical junction complex GO:0043296 9.32 CDH1 CTNNB1
2 lateral element GO:0000800 9.26 BRCA1 BRCA2
3 catenin complex GO:0016342 9.16 CDH1 CTNNB1
4 protein complex GO:0043234 9.02 AKT1 BRCA1 BRCA2 CTNNB1 PRKN
5 flotillin complex GO:0016600 8.96 CDH1 CTNNB1

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

(show all 34)
id Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.95 AKT1 BRCA2 CTNNB1 ERBB2
2 DNA repair GO:0006281 9.93 BRCA1 BRCA2 BRIP1 PALB2
3 positive regulation of transcription, DNA-templated GO:0045893 9.93 AKT1 BRCA1 BRCA2 CDH1 CTNNB1
4 cellular response to DNA damage stimulus GO:0006974 9.85 AKT1 BRCA1 BRCA2 BRIP1 PALB2
5 negative regulation of neuron apoptotic process GO:0043524 9.83 KRAS PIK3CA PRKN
6 regulation of signal transduction by p53 class mediator GO:1901796 9.82 AKT1 BRCA1 BRIP1
7 phosphatidylinositol-mediated signaling GO:0048015 9.79 AKT1 ERBB2 PIK3CA
8 DNA recombination GO:0006310 9.79 BRCA1 BRCA2 PALB2
9 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.72 AKT1 ERBB2 PIK3CA
10 double-strand break repair via homologous recombination GO:0000724 9.7 BRCA1 BRCA2 PALB2
11 double-strand break repair GO:0006302 9.67 BRCA1 BRCA2 BRIP1
12 negative regulation of gene expression GO:0010629 9.67 AKT1 BRIP1 CTNNB1 PRKN
13 vasculature development GO:0001944 9.66 CTNNB1 PIK3CA
14 positive regulation of nitric-oxide synthase activity GO:0051000 9.65 AKT1 KRAS
15 cellular response to growth factor stimulus GO:0071363 9.65 AKT1 CTNNB1 ERBB2
16 positive regulation of gene expression GO:0010628 9.65 BRCA1 CTNNB1 ERBB2 KRAS PRKN
17 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.64 AKT1 PRKN
18 epithelial tube branching involved in lung morphogenesis GO:0060441 9.64 CTNNB1 KRAS
19 positive regulation of histone H3-K4 methylation GO:0051571 9.63 BRCA1 CTNNB1
20 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.62 BRCA1 BRCA2
21 regulation of myelination GO:0031641 9.61 AKT1 CTNNB1
22 negative regulation of neuron death GO:1901215 9.61 AKT1 CTNNB1 PRKN
23 cellular process GO:0009987 9.6 CTNNB1 RRAS2
24 negative regulation of macroautophagy GO:0016242 9.59 AKT1 PIK3CA
25 striated muscle cell differentiation GO:0051146 9.58 AKT1 KRAS
26 inner cell mass cell proliferation GO:0001833 9.58 BRCA2 PALB2
27 entry of bacterium into host cell GO:0035635 9.57 CDH1 CTNNB1
28 anoikis GO:0043276 9.56 AKT1 PIK3CA
29 protein K6-linked ubiquitination GO:0085020 9.51 BRCA1 PRKN
30 ERBB2 signaling pathway GO:0038128 9.5 ERBB2 KRAS PIK3CA
31 DNA synthesis involved in DNA repair GO:0000731 9.46 BRCA1 BRCA2 BRIP1 PALB2
32 chordate embryonic development GO:0043009 9.4 BRCA1 BRCA2
33 cellular response to indole-3-methanol GO:0071681 9.13 BRCA1 CDH1 CTNNB1
34 strand displacement GO:0000732 8.92 BRCA1 BRCA2 BRIP1 PALB2

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

id Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.46 AKT1 BRIP1 ERBB2 KRAS
2 enzyme binding GO:0019899 9.26 AKT1 BRCA1 CTNNB1 PRKN
3 GTPase activating protein binding GO:0032794 8.62 AKT1 CDH1

Sources for Ovarian Cancer, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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