MCID: PRS070
MIFTS: 16

Prostate Cancer, Hereditary, 12

Categories: Genetic diseases, Cancer diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Prostate Cancer, Hereditary, 12

MalaCards integrated aliases for Prostate Cancer, Hereditary, 12:

Name: Prostate Cancer, Hereditary, 12 54 71 13 69
Familial Prostate Cancer 12 71
Hpc12 71

Classifications:



External Ids:

OMIM 54 611868
MedGen 40 C2678479
MeSH 42 D011471

Summaries for Prostate Cancer, Hereditary, 12

UniProtKB/Swiss-Prot : 71 Prostate cancer, hereditary, 12: A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma.

MalaCards based summary : Prostate Cancer, Hereditary, 12, is also known as familial prostate cancer 12. An important gene associated with Prostate Cancer, Hereditary, 12 is EHBP1 (EH Domain Binding Protein 1). The drugs Ornithine and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include prostate and breast.

Description from OMIM: 611868

Related Diseases for Prostate Cancer, Hereditary, 12

Symptoms & Phenotypes for Prostate Cancer, Hereditary, 12

Clinical features from OMIM:

611868

Drugs & Therapeutics for Prostate Cancer, Hereditary, 12

Drugs for Prostate Cancer, Hereditary, 12 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262 389
2 Anti-Infective Agents Phase 2
3 Antiparasitic Agents Phase 2
4 Antiprotozoal Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Eflornithine in Treating Patients At High Risk of Developing Prostate Cancer Completed NCT00006101 Phase 2 eflornithine;Placebo
2 A Phase II Single Arm Pilot Study of the Chk1/2 Inhibitor (LY2606368) in BRCA1/2 Mutation Associated Breast or Ovarian Cancer, Triple Negative Breast Cancer, High Grade Serous Ovarian Cancer, and Metastatic Castrate-Resistant Prostate Cancer Recruiting NCT02203513 Phase 2 LY2606368
3 Prostate Cancer Screening Among Men With High Risk Genetic Predisposition Recruiting NCT02053805

Search NIH Clinical Center for Prostate Cancer, Hereditary, 12

Genetic Tests for Prostate Cancer, Hereditary, 12

Anatomical Context for Prostate Cancer, Hereditary, 12

MalaCards organs/tissues related to Prostate Cancer, Hereditary, 12:

39
Prostate, Breast

Publications for Prostate Cancer, Hereditary, 12

Variations for Prostate Cancer, Hereditary, 12

ClinVar genetic disease variations for Prostate Cancer, Hereditary, 12:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 EHBP1 NM_001142615.2(EHBP1): c.1185+30064G> A single nucleotide variant Pathogenic rs721048 GRCh37 Chromosome 2, 63131731: 63131731

Cosmic variations for Prostate Cancer, Hereditary, 12:

9 (show top 50) (show all 217)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM1675924 WT1 prostate,NS,carcinoma,adenocarcinoma c.790C>G p.Q264E 6
2 COSM6005603 TSC2 prostate,NS,carcinoma,adenocarcinoma c.472G>A p.E158K 6
3 COSM6005601 TSC2 prostate,NS,carcinoma,adenocarcinoma c.392C>A p.P131H 6
4 COSM3212813 TSC1 prostate,NS,carcinoma,adenocarcinoma c.3100G>T p.G1034C 6
5 COSM3212858 TSC1 prostate,NS,carcinoma,adenocarcinoma c.439G>T p.G147W 6
6 COSM10662 TP53 prostate,NS,carcinoma,adenocarcinoma c.743G>A p.R248Q 6
7 COSM45103 TP53 prostate,NS,carcinoma,adenocarcinoma c.492G>A p.K164K 6
8 COSM13165 TP53 prostate,NS,carcinoma,adenocarcinoma c.800G>T p.R267L 6
9 COSM43906 TP53 prostate,NS,carcinoma,adenocarcinoma c.843C>A p.D281E 6
10 COSM43592 TP53 prostate,NS,carcinoma,adenocarcinoma c.395A>T p.K132M 6
11 COSM44135 TP53 prostate,NS,carcinoma,adenocarcinoma c.724T>G p.C242G 6
12 COSM11224 TP53 prostate,NS,carcinoma,adenocarcinoma c.394A>C p.K132Q 6
13 COSM43665 TP53 prostate,NS,carcinoma,adenocarcinoma c.746G>C p.R249T 6
14 COSM45032 TP53 prostate,NS,carcinoma,adenocarcinoma c.710T>G p.M237R 6
15 COSM44823 TP53 prostate,NS,carcinoma,adenocarcinoma c.981T>G p.Y327* 6
16 COSM45620 TP53 prostate,NS,carcinoma,adenocarcinoma c.704A>C p.N235T 6
17 COSM44431 TP53 prostate,NS,carcinoma,adenocarcinoma c.505A>G p.M169V 6
18 COSM12193 TP53 prostate,NS,carcinoma,adenocarcinoma c.668C>T p.P223L 6
19 COSM10828 TP53 prostate,NS,carcinoma,adenocarcinoma c.785G>A p.G262D 6
20 COSM10659 TP53 prostate,NS,carcinoma,adenocarcinoma c.817C>T p.R273C 6
21 COSM10656 TP53 prostate,NS,carcinoma,adenocarcinoma c.742C>T p.R248W 6
22 COSM11524 TP53 prostate,NS,carcinoma,adenocarcinoma c.730G>T p.G244C 6
23 COSM45623 TP53 prostate,NS,carcinoma,adenocarcinoma c.703A>C p.N235H 6
24 COSM44126 TP53 prostate,NS,carcinoma,adenocarcinoma c.507G>A p.M169I 6
25 COSM44137 TP53 prostate,NS,carcinoma,adenocarcinoma c.434T>A p.L145Q 6
26 COSM10646 TP53 prostate,NS,carcinoma,adenocarcinoma c.725G>A p.C242Y 6
27 COSM10724 TP53 prostate,NS,carcinoma,adenocarcinoma c.839G>C p.R280T 6
28 COSM44388 TP53 prostate,NS,carcinoma,adenocarcinoma c.853G>T p.E285* 6
29 COSM10731 TP53 prostate,NS,carcinoma,adenocarcinoma c.707A>G p.Y236C 6
30 COSM6932 TP53 prostate,NS,carcinoma,adenocarcinoma c.733G>A p.G245S 6
31 COSM45870 TP53 prostate,NS,carcinoma,adenocarcinoma c.715A>T p.N239Y 6
32 COSM45622 TP53 prostate,NS,carcinoma,adenocarcinoma c.461G>A p.G154D 6
33 COSM43956 TP53 prostate,NS,carcinoma,adenocarcinoma c.700T>A p.Y234N 6
34 COSM44299 TP53 prostate,NS,carcinoma,adenocarcinoma c.501G>A p.Q167Q 6
35 COSM10704 TP53 prostate,NS,carcinoma,adenocarcinoma c.844C>T p.R282W 6
36 COSM44996 TP53 prostate,NS,carcinoma,adenocarcinoma c.515T>C p.V172A 6
37 COSM10905 TP53 prostate,NS,carcinoma,adenocarcinoma c.451C>T p.P151S 6
38 COSM11287 TP53 prostate,NS,carcinoma,adenocarcinoma c.839G>T p.R280I 6
39 COSM10738 TP53 prostate,NS,carcinoma,adenocarcinoma c.542G>A p.R181H 6
40 COSM10672 TP53 prostate,NS,carcinoma,adenocarcinoma c.577C>T p.H193Y 6
41 COSM10808 TP53 prostate,NS,carcinoma,adenocarcinoma c.488A>G p.Y163C 6
42 COSM5708976 TET2 prostate,NS,carcinoma,adenocarcinoma c.5669A>G p.N1890S 6
43 COSM5413594 SUFU prostate,NS,carcinoma,adenocarcinoma c.50C>T p.A17V 6
44 COSM6005723 STAT5B prostate,NS,carcinoma,adenocarcinoma c.1529C>T p.A510V 6
45 COSM6005724 STAT5B prostate,NS,carcinoma,adenocarcinoma c.1025T>C p.L342P 6
46 COSM6005721 SRC prostate,NS,carcinoma,adenocarcinoma c.1116+4A>T p.? 6
47 COSM95272 SPOP prostate,NS,carcinoma,adenocarcinoma c.399C>G p.F133L 6
48 COSM220066 SPOP prostate,NS,carcinoma,adenocarcinoma c.305T>G p.F102C 6
49 COSM241746 SPOP prostate,NS,carcinoma,adenocarcinoma c.260A>C p.Y87S 6
50 COSM2769699 SMO prostate,NS,carcinoma,adenocarcinoma c.817T>C p.C273R 6

Expression for Prostate Cancer, Hereditary, 12

Search GEO for disease gene expression data for Prostate Cancer, Hereditary, 12.

Pathways for Prostate Cancer, Hereditary, 12

GO Terms for Prostate Cancer, Hereditary, 12

Sources for Prostate Cancer, Hereditary, 12

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....