MCID: PRS114
MIFTS: 18

Prostate Cancer, Hereditary, 2

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

Aliases & Classifications for Prostate Cancer, Hereditary, 2

MalaCards integrated aliases for Prostate Cancer, Hereditary, 2:

Name: Prostate Cancer, Hereditary, 2 57 75 29 6 73
Prostate Cancer, Hereditary, 2, Susceptibility to 57 13
Hpc2 57 75
Cancer, Prostate, Hereditary, Type 2 40
Familial Prostate Cancer 2 75

Classifications:



External Ids:

OMIM 57 614731
MeSH 44 D011471
UMLS 73 C3539120

Summaries for Prostate Cancer, Hereditary, 2

UniProtKB/Swiss-Prot : 75 Prostate cancer, hereditary, 2: 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, 2, also known as prostate cancer, hereditary, 2, susceptibility to, is related to prostate cancer and prostatitis. An important gene associated with Prostate Cancer, Hereditary, 2 is ELAC2 (ElaC Ribonuclease Z 2). Affiliated tissues include prostate.

Description from OMIM: 614731

Related Diseases for Prostate Cancer, Hereditary, 2

Graphical network of the top 20 diseases related to Prostate Cancer, Hereditary, 2:



Diseases related to Prostate Cancer, Hereditary, 2

Symptoms & Phenotypes for Prostate Cancer, Hereditary, 2

Clinical features from OMIM:

614731

Drugs & Therapeutics for Prostate Cancer, Hereditary, 2

Search Clinical Trials , NIH Clinical Center for Prostate Cancer, Hereditary, 2

Genetic Tests for Prostate Cancer, Hereditary, 2

Genetic tests related to Prostate Cancer, Hereditary, 2:

# Genetic test Affiliating Genes
1 Prostate Cancer, Hereditary, 2 29 ELAC2

Anatomical Context for Prostate Cancer, Hereditary, 2

MalaCards organs/tissues related to Prostate Cancer, Hereditary, 2:

41
Prostate

Publications for Prostate Cancer, Hereditary, 2

Variations for Prostate Cancer, Hereditary, 2

UniProtKB/Swiss-Prot genetic disease variations for Prostate Cancer, Hereditary, 2:

75
# Symbol AA change Variation ID SNP ID
1 ELAC2 p.Arg211Gln VAR_017425 rs148419785
2 ELAC2 p.Ser217Leu VAR_017426 rs4792311
3 ELAC2 p.Gly487Arg VAR_017427 rs752234492
4 ELAC2 p.Ala541Thr VAR_017428 rs5030739
5 ELAC2 p.Glu622Val VAR_017429 rs119484087
6 ELAC2 p.Arg781His VAR_017431 rs119484086
7 ELAC2 p.Gly806Arg VAR_017432 rs770669443

ClinVar genetic disease variations for Prostate Cancer, Hereditary, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ELAC2 NM_018127.6(ELAC2): c.1641_1642insG (p.His548Alafs) insertion Pathogenic rs387906327 GRCh37 Chromosome 17, 12899882: 12899882
2 ELAC2 NM_018127.6(ELAC2): c.1641_1642insG (p.His548Alafs) insertion Pathogenic rs387906327 GRCh38 Chromosome 17, 12996565: 12996565
3 ELAC2 NM_001165962.1(ELAC2): c.1578+1G> C single nucleotide variant Uncertain significance rs1085307065 GRCh37 Chromosome 17, 12899256: 12899256
4 ELAC2 NM_001165962.1(ELAC2): c.1578+1G> C single nucleotide variant Uncertain significance rs1085307065 GRCh38 Chromosome 17, 12995939: 12995939

Cosmic variations for Prostate Cancer, Hereditary, 2:

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

Expression for Prostate Cancer, Hereditary, 2

Search GEO for disease gene expression data for Prostate Cancer, Hereditary, 2.

Pathways for Prostate Cancer, Hereditary, 2

GO Terms for Prostate Cancer, Hereditary, 2

Sources for Prostate Cancer, Hereditary, 2

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