Details of Disease

General Information of Disease (ID: DISZSPOK)

• Disease Name: Polyposis
• Synonyms: polyposis; multiple polyps
• Disease Hierarchy:
  :
  DISZSPOK: Polyposis
• Disease Identifiers:
  MONDO ID: MONDO_0000147
  UMLS CUI: C0334108
  MedGen ID: 137722
  SNOMED CT ID: 9499001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FAP	TTGPQ0F	Strong	Biomarker	[1]
GREM1	TTOUZN5	Strong	Biomarker	[2]
MLH1	TTISG27	Strong	Genetic Variation	[3]
MRC1	TTKV8W5	Strong	Genetic Variation	[4]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A21	DT2UQYR	Strong	Altered Expression	[5]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FMO3	DEP76YL	Strong	Genetic Variation	[6]

This Disease Is Related to 19 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AFAP1	OTR473H8	Limited	Genetic Variation	[7]
ARL6IP5	OTYZ6BEQ	Limited	Biomarker	[8]
DNAJC3	OT7ROIJF	Limited	Biomarker	[8]
FOCAD	OT83QOSI	Limited	Genetic Variation	[9]
HLTF	OTRX2OSF	Limited	Posttranslational Modification	[10]
MBTPS2	OT67CC7W	Limited	Genetic Variation	[11]
MLH3	OT91PPBI	Limited	Biomarker	[2]
POLE4	OTCMWUT6	Limited	Biomarker	[12]
BMPR1A	OTQOA4ZH	Strong	Altered Expression	[13]
BUB3	OTU91HAU	Strong	Biomarker	[14]
FMN1	OT9CID5R	Strong	Biomarker	[15]
GALNT12	OTVIBUST	Strong	Biomarker	[16]
MSH6	OT46FP09	Strong	Genetic Variation	[17]
PMS2	OTNLWTMI	Strong	Genetic Variation	[18]
POLE	OTFM3MMU	Strong	Genetic Variation	[19]
SCG5	OTXSJMT1	Strong	Biomarker	[20]
SEPTIN7	OTJI08YX	Strong	Biomarker	[21]
STAG1	OT564IX4	Strong	Genetic Variation	[22]
STK11	OT1YZSP3	Strong	Genetic Variation	[23]

References

• [1] Gastric tumours in FAP.Fam Cancer. 2017 Jul;16(3):363-369. doi: 10.1007/s10689-017-9966-0.
• [2] Update on genetic predisposition to colorectal cancer and polyposis.Mol Aspects Med. 2019 Oct;69:10-26. doi: 10.1016/j.mam.2019.03.001. Epub 2019 Mar 18.
• [3] RNF43 germline and somatic mutation in serrated neoplasia pathway and its association with BRAF mutation.Gut. 2017 Sep;66(9):1645-1656. doi: 10.1136/gutjnl-2016-311849. Epub 2016 Jun 21.
• [4] Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.Fam Cancer. 2017 Oct;16(4):501-507. doi: 10.1007/s10689-017-9981-1.
• [5] Ornithine decarboxylase and polyamines in familial adenomatous polyposis.Cancer Res. 1997 Jan 15;57(2):199-201.
• [6] Genetic polymorphisms of flavin monooxygenase 3 in sulindac-induced regression of colorectal adenomas in familial adenomatous polyposis.Cancer Epidemiol Biomarkers Prev. 2005 Oct;14(10):2366-9. doi: 10.1158/1055-9965.EPI-05-0312.
• [7] Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.Int J Cancer. 2006 Apr 15;118(8):1937-40. doi: 10.1002/ijc.21470.
• [8] Methylation patterns define two types of hyperplastic polyp associated with colorectal cancer.Gut. 2004 Apr;53(4):573-80. doi: 10.1136/gut.2003.030841.
• [9] Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes.Hum Mutat. 2019 Nov;40(11):1910-1923. doi: 10.1002/humu.23853. Epub 2019 Jul 29.
• [10] Prognostic role of methylated free circulating DNA in colorectal cancer.Int J Cancer. 2012 Nov 15;131(10):2308-19. doi: 10.1002/ijc.27505. Epub 2012 Mar 27.
• [11] Characterization of APC exon 15 germ-line mutation in FAP family with severe phenotype showing extracolonic symptoms.Neoplasma. 1999;46(5):290-4.
• [12] Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.Int J Cancer. 2015 Jul 15;137(2):320-31. doi: 10.1002/ijc.29396. Epub 2015 Jan 20.
• [13] Bmp signaling in colonic mesenchyme regulates stromal microenvironment and protects from polyposis initiation.Int J Cancer. 2016 Jun 1;138(11):2700-12. doi: 10.1002/ijc.30001. Epub 2016 Feb 10.
• [14] Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis.Mol Cancer. 2018 Feb 15;17(1):23. doi: 10.1186/s12943-018-0762-8.
• [15] Cenani-Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways.Am J Med Genet A. 2019 Feb;179(2):266-279. doi: 10.1002/ajmg.a.60694. Epub 2018 Dec 20.
• [16] Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.PLoS One. 2017 Nov 2;12(11):e0187312. doi: 10.1371/journal.pone.0187312. eCollection 2017.
• [17] Human mismatch repair protein MSH6 contains a PWWP domain that targets double stranded DNA.Biochemistry. 2008 Jun 10;47(23):6199-207. doi: 10.1021/bi7024639. Epub 2008 May 17.
• [18] Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. Eur J Cancer. 2011 May;47(7):965-82. doi: 10.1016/j.ejca.2011.01.013. Epub 2011 Mar 4.
• [19] A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.Fam Cancer. 2017 Jan;16(1):67-71. doi: 10.1007/s10689-016-9925-1.
• [20] Clinicopathological features of a kindred with SCG5-GREM1-associated hereditary mixed polyposis syndrome.Hum Pathol. 2017 Feb;60:75-81. doi: 10.1016/j.humpath.2016.10.002. Epub 2016 Oct 28.
• [21] iTRAQ-based proteomic analysis of DMH-induced colorectal cancer in mice reveals the expressions of -catenin, decorin, septin-7, and S100A10 expression in 53 cases of human hereditary polyposis colorectal cancer.Clin Transl Oncol. 2019 Feb;21(2):220-231. doi: 10.1007/s12094-018-1912-6. Epub 2018 Jun 28.
• [22] Genome-wide association and fine mapping of genetic loci predisposing to colon carcinogenesis in mice.Mol Cancer Res. 2012 Jan;10(1):66-74. doi: 10.1158/1541-7786.MCR-10-0540. Epub 2011 Nov 29.
• [23] Molecular cloning, polymorphism, and expression analysis of the LKB1/STK11 gene and its association with non-specific digestive disorder in rabbits.Mol Cell Biochem. 2018 Dec;449(1-2):127-136. doi: 10.1007/s11010-018-3349-1. Epub 2018 Apr 10.