MCID: PRS097
MIFTS: 27

Prostate Cancer, Hereditary, 1

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

Aliases & Classifications for Prostate Cancer, Hereditary, 1

MalaCards integrated aliases for Prostate Cancer, Hereditary, 1:

Name: Prostate Cancer, Hereditary, 1 57 75 29 55 6
Prostate Cancer 1 57 13
Prca1 57 75
Hpc1 57 75
Cancer, Prostate, Hereditary, Type 1 40
Familial Prostate Cancer 1 75
Prostate Cancer, Familial 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant form


HPO:

32
prostate cancer, hereditary, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601518
MedGen 42 C2931456
MeSH 44 D011471
UMLS 73 C2931456

Summaries for Prostate Cancer, Hereditary, 1

UniProtKB/Swiss-Prot : 75 Prostate cancer, hereditary, 1: 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, 1, also known as prostate cancer 1, is related to prostate cancer and prostatitis. An important gene associated with Prostate Cancer, Hereditary, 1 is RNASEL (Ribonuclease L). The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include prostate, and related phenotypes are neoplasm and prostate cancer

Description from OMIM: 601518

Related Diseases for Prostate Cancer, Hereditary, 1

Symptoms & Phenotypes for Prostate Cancer, Hereditary, 1

Symptoms via clinical synopsis from OMIM:

57
Oncology:
prostate cancer


Clinical features from OMIM:

601518

Human phenotypes related to Prostate Cancer, Hereditary, 1:

32
# Description HPO Frequency HPO Source Accession
1 neoplasm 32 HP:0002664
2 prostate cancer 32 HP:0012125

Drugs & Therapeutics for Prostate Cancer, Hereditary, 1

Drugs for Prostate Cancer, Hereditary, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
4 Anti-Infective Agents Phase 4,Phase 2
5 Anti-Bacterial Agents Phase 4
6 Antibiotics, Antitubercular Phase 4
7 Antifungal Agents Phase 4
8 Immunosuppressive Agents Phase 4
9
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262
10 Antiparasitic Agents Phase 2
11 Antiprotozoal Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sirolimus Treatment for Refractory PRCA Recruiting NCT03364764 Phase 4 Sirolimus
2 Eflornithine in Treating Patients At High Risk of Developing Prostate Cancer Completed NCT00006101 Phase 2 eflornithine;Placebo
3 Epidemiologic and Genetic Study on Familial Prostate Cancer Unknown status NCT01221168
4 Studying Genes, Environment, and Prostate Cancer Risk in Patients With or Without Prostate Cancer and Their First-Degree Relatives Unknown status NCT01013129
5 Familial Prostate Cancer Completed NCT00001377
6 Genetic Analysis of Hereditary Prostate Cancer Completed NCT00001469
7 Clinical Validity and Utility of Genomic-targeted Chemoprevention of PCa: Aim 4a Completed NCT02381015 Not Applicable

Search NIH Clinical Center for Prostate Cancer, Hereditary, 1

Genetic Tests for Prostate Cancer, Hereditary, 1

Genetic tests related to Prostate Cancer, Hereditary, 1:

# Genetic test Affiliating Genes
1 Prostate Cancer, Hereditary, 1 29 RNASEL

Anatomical Context for Prostate Cancer, Hereditary, 1

MalaCards organs/tissues related to Prostate Cancer, Hereditary, 1:

41
Prostate

Publications for Prostate Cancer, Hereditary, 1

Articles related to Prostate Cancer, Hereditary, 1:

# Title Authors Year
1
Long-term Efficacy and Safety of Enzalutamide Monotherapy in Hormone-naA^ve Prostate Cancer: 1- and 2-Year Open-label Follow-up Results. ( 25687533 )
2015
2
Management of locally advanced prostate cancer. 1. Staging, natural history, and results of radical surgery. ( 10926084 )
2000
3
A 6-Mb high-resolution physical and transcription map encompassing the hereditary prostate cancer 1 (HPC1) region. ( 10708513 )
2000
4
Prostate cancer: 1. The descriptive epidemiology in Canada. ( 9757178 )
1998
5
Characteristics of prostate cancer in families potentially linked to the hereditary prostate cancer 1 (HPC1) locus. ( 9333266 )
1997
6
A 72-year-old man with localized prostate cancer, 1 year later. ( 8627972 )
1996
7
Update on urology--prostate cancer. 1--The molecular basis for prostatic cancer: how it may influence treatment choice. ( 7781804 )
1995
8
Steroid-growth factor interaction in human prostate cancer. 1. Short-term effects of transforming growth factors on growth of human prostate cancer cells. ( 7974525 )
1994

Variations for Prostate Cancer, Hereditary, 1

ClinVar genetic disease variations for Prostate Cancer, Hereditary, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RNASEL NM_021133.3(RNASEL): c.793G> T (p.Glu265Ter) single nucleotide variant Pathogenic rs74315364 GRCh37 Chromosome 1, 182555149: 182555149
2 RNASEL NM_021133.3(RNASEL): c.793G> T (p.Glu265Ter) single nucleotide variant Pathogenic rs74315364 GRCh38 Chromosome 1, 182586014: 182586014
3 RNASEL NM_021133.3(RNASEL): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs74315365 GRCh37 Chromosome 1, 182555939: 182555939
4 RNASEL NM_021133.3(RNASEL): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs74315365 GRCh38 Chromosome 1, 182586804: 182586804

Cosmic variations for Prostate Cancer, Hereditary, 1:

9
(show top 50) (show all 2438)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6930186 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.5114C>G p.S1705* 16:72797568-72797568 9
2 COSM1640552 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.8849G>A p.R2950H 16:72793833-72793833 9
3 COSM6982069 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.2728G>A p.E910K 16:72950957-72950957 9
4 COSM6984715 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.5893C>T p.Q1965* 16:72796789-72796789 9
5 COSM6965403 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.4819C>T p.Q1607* 16:72797863-72797863 9
6 COSM6940917 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.3533C>A p.S1178* 16:72812035-72812035 9
7 COSM6845138 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.5650G>T p.E1884* 16:72797032-72797032 9
8 COSM3276891 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.3340C>T p.R1114* 16:72889839-72889839 9
9 COSM1270844 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.6445C>T p.R2149C 16:72796237-72796237 9
10 COSM6984205 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.2986A>T p.K996* 16:72950699-72950699 9
11 COSM6958286 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.405C>G p.Y135* 16:72959741-72959741 9
12 COSM6909179 YES1 prostate,NS,carcinoma,adenocarcinoma c.119C>G p.S40* 18:756709-756709 9
13 COSM6921346 XPO1 prostate,NS,carcinoma,adenocarcinoma c.1098T>A p.F366L 2:61494041-61494041 9
14 COSM6928801 XPO1 prostate,NS,carcinoma,adenocarcinoma c.1384G>T p.V462F 2:61492915-61492915 9
15 COSM6984689 XPO1 prostate,NS,carcinoma,adenocarcinoma c.2468T>G p.F823C 2:61485808-61485808 9
16 COSM96797 XPO1 prostate,NS,carcinoma,adenocarcinoma c.1711G>A p.E571K 2:61492337-61492337 9
17 COSM6918424 XPO1 prostate,NS,carcinoma,adenocarcinoma c.3101T>G p.F1034C 2:61478935-61478935 9
18 COSM6918912 XPO1 prostate,NS,carcinoma,adenocarcinoma c.1259T>C p.M420T 2:61493040-61493040 9
19 COSM6934737 WT1 prostate,NS,carcinoma,adenocarcinoma c.904C>T p.R302C 11:32396398-32396398 9
20 COSM1675924 WT1 prostate,NS,carcinoma,adenocarcinoma c.790C>G p.Q264E 11:32416497-32416497 9
21 COSM1475372 WT1 prostate,NS,carcinoma,adenocarcinoma c.1297C>T p.R433C 11:32389111-32389111 9
22 COSM6975064 WT1 prostate,NS,carcinoma,adenocarcinoma c.1149C>A p.F383L 11:32392051-32392051 9
23 COSM14311 VHL prostate,NS,carcinoma,adenocarcinoma c.499C>T p.R167W 3:10149822-10149822 9
24 COSM6952050 VHL prostate,NS,carcinoma,adenocarcinoma c.242C>A p.P81Q 3:10142089-10142089 9
25 COSM6946750 VHL prostate,NS,carcinoma,adenocarcinoma c.219G>C p.Q73H 3:10142066-10142066 9
26 COSM1130534 U2AF1 prostate,NS,carcinoma,adenocarcinoma c.692C>T p.S231L 21:43093133-43093133 9
27 COSM6971109 TSC2 prostate,NS,carcinoma,adenocarcinoma c.1385G>A p.R462H 16:2062995-2062995 9
28 COSM6980192 TSC2 prostate,NS,carcinoma,adenocarcinoma c.4388T>A p.I1463N 16:2084610-2084610 9
29 COSM6005603 TSC2 prostate,NS,carcinoma,adenocarcinoma c.472G>A p.E158K 16:2054431-2054431 9
30 COSM6005601 TSC2 prostate,NS,carcinoma,adenocarcinoma c.392C>A p.P131H 16:2054351-2054351 9
31 COSM3212813 TSC1 prostate,NS,carcinoma,adenocarcinoma c.3100G>T p.G1034C 9:132896630-132896630 9
32 COSM3212858 TSC1 prostate,NS,carcinoma,adenocarcinoma c.439G>T p.G147W 9:132923417-132923417 9
33 COSM6939550 TSC1 prostate,NS,carcinoma,adenocarcinoma c.508G>T p.G170C 9:132923348-132923348 9
34 COSM1042486 TP63 prostate,NS,carcinoma,adenocarcinoma c.448G>A p.A150T 3:189808395-189808395 9
35 COSM6954187 TP63 prostate,NS,carcinoma,adenocarcinoma c.490G>A p.A164T 3:189808437-189808437 9
36 COSM6979174 TP63 prostate,NS,carcinoma,adenocarcinoma c.1106A>G p.K369R 3:189868693-189868693 9
37 COSM6930015 TP63 prostate,NS,carcinoma,adenocarcinoma c.1147C>T p.H383Y 3:189869341-189869341 9
38 COSM6978125 TP63 prostate,NS,carcinoma,adenocarcinoma c.728G>A p.R243Q 3:189864380-189864380 9
39 COSM10690 TP53 prostate,NS,carcinoma,adenocarcinoma c.473G>A p.R158H 17:7675139-7675139 9
40 COSM10662 TP53 prostate,NS,carcinoma,adenocarcinoma c.743G>A p.R248Q 17:7674220-7674220 9
41 COSM43906 TP53 prostate,NS,carcinoma,adenocarcinoma c.843C>A p.D281E 17:7673777-7673777 9
42 COSM44319 TP53 prostate,NS,carcinoma,adenocarcinoma c.405C>A p.C135* 17:7675207-7675207 9
43 COSM45620 TP53 prostate,NS,carcinoma,adenocarcinoma c.704A>C p.N235T 17:7674259-7674259 9
44 COSM43657 TP53 prostate,NS,carcinoma,adenocarcinoma c.569C>T p.P190L 17:7674962-7674962 9
45 COSM44578 TP53 prostate,NS,carcinoma,adenocarcinoma c.721T>C p.S241P 17:7674242-7674242 9
46 COSM10808 TP53 prostate,NS,carcinoma,adenocarcinoma c.488A>G p.Y163C 17:7675124-7675124 9
47 COSM12193 TP53 prostate,NS,carcinoma,adenocarcinoma c.668C>T p.P223L 17:7674863-7674863 9
48 COSM43750 TP53 prostate,NS,carcinoma,adenocarcinoma c.811G>T p.E271* 17:7673809-7673809 9
49 COSM43842 TP53 prostate,NS,carcinoma,adenocarcinoma c.770T>C p.L257P 17:7674193-7674193 9
50 COSM10828 TP53 prostate,NS,carcinoma,adenocarcinoma c.785G>A p.G262D 17:7673835-7673835 9

Expression for Prostate Cancer, Hereditary, 1

Search GEO for disease gene expression data for Prostate Cancer, Hereditary, 1.

Pathways for Prostate Cancer, Hereditary, 1

GO Terms for Prostate Cancer, Hereditary, 1

Sources for Prostate Cancer, Hereditary, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....