Details of Disease

General Information of Disease (ID: DISL9KNO)

• Disease Name: Familial prostate carcinoma
• Synonyms: prostate cancer, hereditary; prostate cancer, familial; hereditary prostate cancer; prostate cancer, susceptibility to, autosomal dominant, somatic mutation; prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation; familial prostate cancer; hereditary prostate carcinoma; prostate cancer, autosomal dominant, somatic mutation; prostate cancer, somatic
• Definition: Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISMJPLE: Prostate carcinoma
  DISL9KNO: Familial prostate carcinoma
• Disease Identifiers:
  MONDO ID: MONDO_0023122
  MESH ID: C537243
  UMLS CUI: C2931456
  MedGen ID: 419810
  Orphanet ID: 1331
  SNOMED CT ID: 715412008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 27 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDH1	TTLAWO6	Limited	Biomarker	[1]
KLK2	TTJLNAW	Limited	Biomarker	[2]
KLK3	TTS78AZ	Limited	Biomarker	[2]
MAD1L1	TTNE9U7	Limited	Unknown	[3]
EPHB2	TTKPV6O	moderate	Genetic Variation	[4]
ATAT1	TTWUHQ1	Strong	Biomarker	[5]
ATM	TTKBM7V	Strong	Biomarker	[5]
BRCA2	TTUARD6	Strong	Genetic Variation	[2]
CASP8	TT6SZNG	Strong	Biomarker	[5]
CDKN1B	TTLGFVW	Strong	Biomarker	[5]
CHEK2	TT9ABMF	Strong	Biomarker	[6]
DNMT3B	TT6VZ78	Strong	Biomarker	[5]
HOXB13	TTZ6I58	Strong	Biomarker	[7]
ITGB8	TTIF29E	Strong	Biomarker	[5]
KDM2A	TT8XTY2	Strong	Biomarker	[5]
MAD1L1	TTNE9U7	Strong	Biomarker	[5]
MAP2K1	TTIDAPM	Strong	Biomarker	[5]
MMP14	TTJ4QE7	Strong	Biomarker	[5]
MSR1	TT2TDH9	Strong	Biomarker	[8]
NPEPPS	TT371QC	Strong	Genetic Variation	[9]
RGS8	TTWME23	Strong	Genetic Variation	[10]
RNF43	TTD91BL	Strong	Biomarker	[5]
TCF7L2	TT80QAL	Strong	Biomarker	[5]
TOR1A	TTF85KW	Strong	Biomarker	[5]
BRCA2	TTUARD6	Definitive	Autosomal dominant	[11]
BRIP1	TTZV7LJ	Definitive	Genetic Variation	[12]
MSMB	TTYH1ZK	Definitive	Genetic Variation	[2]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PSAT1	DEBS17P	Strong	Genetic Variation	[9]

This Disease Is Related to 52 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAD1L1	OTJCX8K9	Limited	Unknown	[3]
PKHD1	OTAH8SMF	Limited	Genetic Variation	[13]
HNF1B	OTSYIC3T	moderate	SusceptibilityMutation	[14]
KLF6	OTQY9S7F	moderate	Genetic Variation	[15]
NBN	OT73B5MD	moderate	SusceptibilityMutation	[16]
ADGRG1	OTQBB8NT	Strong	Biomarker	[5]
ARHGAP6	OTNVXXFX	Strong	Biomarker	[5]
ARL11	OTF6UDDB	Strong	Altered Expression	[17]
B3GAT1	OTXFP98E	Strong	Biomarker	[5]
BCAS1	OTQKJR81	Strong	Biomarker	[5]
BCL2L11	OTNQQWFJ	Strong	Biomarker	[5]
BRCA1	OT5BN6VH	Strong	Genetic Variation	[2]
CBX4	OT4XVRRF	Strong	Genetic Variation	[18]
CDCA7	OT12HDZY	Strong	Biomarker	[5]
CHD3	OTDBU4F3	Strong	Biomarker	[5]
COL23A1	OTYE0N3I	Strong	Biomarker	[5]
DENND4B	OTFEO8KG	Strong	Biomarker	[5]
DOCK2	OTZTS3PA	Strong	Biomarker	[5]
ELAC2	OTY3BOF6	Strong	Biomarker	[8]
EMSY	OTBQ3KQE	Strong	Biomarker	[5]
FBRSL1	OT4BPXGG	Strong	Biomarker	[5]
HAUS6	OT7ZVR57	Strong	Biomarker	[5]
HLA-DOA	OTZE5Q7R	Strong	Biomarker	[5]
INCENP	OT9HFRYK	Strong	Biomarker	[5]
KNL1	OT4Q3LHV	Strong	Biomarker	[5]
LARP4B	OT2HI0QE	Strong	Biomarker	[5]
LZTS1	OTXXL864	Strong	Biomarker	[19]
MBD2	OTUQPP0R	Strong	Biomarker	[5]
MBNL1	OTOV7J85	Strong	Biomarker	[5]
MECOM	OTP983W8	Strong	Biomarker	[5]
MOB2	OTMBE0NS	Strong	Biomarker	[5]
MYO9B	OTQ94R5K	Strong	Biomarker	[5]
PAX9	OT25J0F7	Strong	Biomarker	[5]
PLAG1	OTT9AJQY	Strong	Genetic Variation	[9]
POU2F2	OTPV0J0C	Strong	Biomarker	[5]
PPFIBP2	OTXQO55Y	Strong	Biomarker	[5]
RASSF3	OT4V9SRK	Strong	Biomarker	[5]
RFX7	OTKFNW3A	Strong	Biomarker	[5]
RGSL1	OTNNYLGW	Strong	Biomarker	[20]
RNLS	OTVP2WJM	Strong	Biomarker	[5]
SPOP	OTP0107S	Strong	Genetic Variation	[21]
SUGCT	OTA8L0TN	Strong	Biomarker	[5]
TCF4	OTB9ASTK	Strong	Biomarker	[5]
TSHZ1	OTYQ9ECW	Strong	Biomarker	[5]
TTC28	OTFOOYC3	Strong	Biomarker	[5]
BRCA2	OTF1XSV1	Definitive	Autosomal dominant	[11]
CT55	OTQC0H27	Definitive	Biomarker	[22]
LGALS8	OT71LJ8T	Definitive	Genetic Variation	[23]
PALB2	OT6DNDBG	Definitive	Genetic Variation	[22]
PDSS2	OTEOQBMX	Definitive	Biomarker	[24]
PPP2R2A	OT9297OG	Definitive	Genetic Variation	[25]
RASA2	OTL06RG2	Definitive	Genetic Variation	[26]

References

• [1] Comprehensive genetic evaluation of common E-cadherin sequence variants and prostate cancer risk: strong confirmation of functional promoter SNP.Hum Genet. 2005 Dec;118(3-4):339-47. doi: 10.1007/s00439-005-0060-6. Epub 2005 Sep 28.
• [2] Urological cancer related to familial syndromes.Int Braz J Urol. 2017 Mar-Apr;43(2):192-201. doi: 10.1590/S1677-5538.IBJU.2016.0125.
• [3] Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility. Sci Adv. 2022 Nov 4;8(44):eabq5914. doi: 10.1126/sciadv.abq5914. Epub 2022 Nov 2.
• [4] EphB2 SNPs and sporadic prostate cancer risk in African American men.PLoS One. 2011;6(5):e19494. doi: 10.1371/journal.pone.0019494. Epub 2011 May 16.
• [5] Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.Nat Genet. 2018 Jul;50(7):928-936. doi: 10.1038/s41588-018-0142-8. Epub 2018 Jun 11.
• [6] Mutations in CHEK2 associated with prostate cancer risk.Am J Hum Genet. 2003 Feb;72(2):270-80. doi: 10.1086/346094. Epub 2003 Jan 17.
• [7] Computational Modeling of complete HOXB13 protein for predicting the functional effect of SNPs and the associated role in hereditary prostate cancer.Sci Rep. 2017 Mar 8;7:43830. doi: 10.1038/srep43830.
• [8] Germline genetic profiling in prostate cancer: latest developments and potential clinical applications.Future Sci OA. 2015 Dec 18;2(1):FSO87. doi: 10.4155/fso.15.87. eCollection 2016 Mar.
• [9] Screening for prostate cancer in Dutch hereditary prostate cancer families.Int J Cancer. 2008 Feb 15;122(4):871-6. doi: 10.1002/ijc.23165.
• [10] Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus.Genomics. 2001 Apr 15;73(2):211-22. doi: 10.1006/geno.2001.6500.
• [11] The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet. 1996 Mar;12(3):333-7. doi: 10.1038/ng0396-333.
• [12] Absence of truncating BRIP1 mutations in chromosome 17q-linked hereditary prostate cancer families.Br J Cancer. 2009 Dec 15;101(12):2043-7. doi: 10.1038/sj.bjc.6605433. Epub 2009 Nov 24.
• [13] A systematic review of replication studies of prostate cancer susceptibility genetic variants in high-risk men originally identified from genome-wide association studies.Cancer Epidemiol Biomarkers Prev. 2011 Aug;20(8):1599-610. doi: 10.1158/1055-9965.EPI-11-0312. Epub 2011 Jun 29.
• [14] Chromosome 17q12 variants contribute to risk of early-onset prostate cancer.Cancer Res. 2008 Aug 15;68(16):6492-5. doi: 10.1158/0008-5472.CAN-08-0348.
• [15] Association between Krppel like factor 6 intervening sequence 1-27 G > A and cancer susceptibility: A meta-analysis.J Cancer Res Ther. 2018 Jun;14(Supplement):S499-S504. doi: 10.4103/0973-1482.174553.
• [16] Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer.Fam Cancer. 2012 Dec;11(4):595-600. doi: 10.1007/s10689-012-9555-1.
• [17] Contribution of ARLTS1 Cys148Arg (T442C) variant with prostate cancer risk and ARLTS1 function in prostate cancer cells.PLoS One. 2011;6(10):e26595. doi: 10.1371/journal.pone.0026595. Epub 2011 Oct 20.
• [18] Genetic analysis of the principal genes related to prostate cancer: a review.Urol Oncol. 2013 Nov;31(8):1419-29. doi: 10.1016/j.urolonc.2012.07.011. Epub 2012 Nov 7.
• [19] Germline sequence variants of the LZTS1 gene are associated with prostate cancer risk.Cancer Genet Cytogenet. 2002 Aug;137(1):1-7. doi: 10.1016/s0165-4608(02)00549-6.
• [20] Identification of 9 novel transcripts and two RGSL genes within the hereditary prostate cancer region (HPC1) at 1q25.Gene. 2003 May 22;310:49-57. doi: 10.1016/s0378-1119(03)00501-8.
• [21] Identification of a novel germline SPOP mutation in a family with hereditary prostate cancer. Prostate. 2014 Jun;74(9):983-90. doi: 10.1002/pros.22818. Epub 2014 May 6.
• [22] Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer.Prostate. 2008 May 1;68(6):675-8. doi: 10.1002/pros.20729.
• [23] A candidate gene approach within the susceptibility region PCaP on 1q42.2-43 excludes deleterious mutations of the PCTA-1 gene to be responsible for hereditary prostate cancer.Eur Urol. 2002 Sep;42(3):301-7. doi: 10.1016/s0302-2838(02)00280-4.
• [24] Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study.Lancet Oncol. 2005 Aug;6(8):566-72. doi: 10.1016/S1470-2045(05)70253-9.
• [25] Evaluation of PPP2R2A as a prostate cancer susceptibility gene: a comprehensive germline and somatic study.Cancer Genet. 2011 Jul;204(7):375-81. doi: 10.1016/j.cancergen.2011.05.002.
• [26] A novel human RasGAP-like gene that maps within the prostate cancer susceptibility locus at chromosome 1q25.FEBS Lett. 1998 Dec 11;441(1):127-31. doi: 10.1016/s0014-5793(98)01530-0.