Details of Disease | DrugMAP

General Information of Disease (ID: DISIXHJ2)

Disease Name	Mismatch repair cancer syndrome
Disease Hierarchy	DISN7YWO: DNA repair disease DISIXHJ2: Mismatch repair cancer syndrome
Disease Identifiers	MONDO ID MONDO_0031219 MESH ID C536928 UMLS CUI C0265325 MedGen ID 78553 SNOMED CT ID 61665008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FAP	TTGPQ0F	Strong	Biomarker	[1]
IGF2R	TTPNE41	Strong	Biomarker	[2]
MAP3K11	TTETX6Q	Strong	Genetic Variation	[3]
PMS1	TTX1ISF	Strong	Genetic Variation	[4]
MSH2	TTCAWRT	Definitive	Biomarker	[5]
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This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APC	OTKV0TIK	Limited	Genetic Variation	[6]
MBD4	OTWR9YXE	Limited	Biomarker	[7]
MLH3	OT91PPBI	moderate	Genetic Variation	[8]
ALDOB	OT7FR69A	Strong	Altered Expression	[9]
CCNO	OT68CH0B	Strong	Biomarker	[10]
GBP5	OTS4AO4A	Strong	Biomarker	[11]
MCM9	OTALGFW8	Strong	Biomarker	[12]
MDC1	OTEUQH4J	Strong	Altered Expression	[13]
POLE	OTFM3MMU	Strong	Genetic Variation	[14]
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⏷ Show the Full List of 9 DOT(s)

References

1	Disruption of the APC gene by t(5;7) translocation in a Turcot family.Cancer Genet. 2016 Mar;209(3):107-11. doi: 10.1016/j.cancergen.2015.12.003. Epub 2015 Dec 17.
2	DNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary non-polyposis colorectal cancer.Gut. 2000 Jul;47(1):37-42. doi: 10.1136/gut.47.1.37.
3	Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours.Hum Mol Genet. 2010 Feb 15;19(4):697-706. doi: 10.1093/hmg/ddp536. Epub 2009 Dec 2.
4	The role of hPMS1 and hPMS2 in predisposing to colorectal cancer.Cancer Res. 2001 Nov 1;61(21):7798-802.
5	Mismatch repair protein loss in breast cancer: clinicopathological associations in a large British Columbia cohort.Breast Cancer Res Treat. 2020 Jan;179(1):3-10. doi: 10.1007/s10549-019-05438-y. Epub 2019 Sep 14.
6	Three molecular pathways model colorectal carcinogenesis in Lynch syndrome.Int J Cancer. 2018 Jul 1;143(1):139-150. doi: 10.1002/ijc.31300. Epub 2018 Feb 23.
7	MBD4 frameshift mutation caused by DNA mismatch repair deficiency enhances cytotoxicity by trifluridine, an active antitumor agent of TAS-102, in colorectal cancer cells.Oncotarget. 2017 Nov 15;9(14):11477-11488. doi: 10.18632/oncotarget.22484. eCollection 2018 Feb 20.
8	An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.Genes Chromosomes Cancer. 2016 Feb;55(2):131-42. doi: 10.1002/gcc.22319. Epub 2015 Nov 6.
9	Aldolase B impairs DNA mismatch repair and induces apoptosis in colon adenocarcinoma.Pathol Res Pract. 2019 Nov;215(11):152597. doi: 10.1016/j.prp.2019.152597. Epub 2019 Aug 16.
10	Acquired temozolomide resistance in human glioblastoma cell line U251 is caused by mismatch repair deficiency and can be overcome by lomustine.Clin Transl Oncol. 2018 Apr;20(4):508-516. doi: 10.1007/s12094-017-1743-x. Epub 2017 Aug 20.
11	Expression of PD-L1, indoleamine 2,3-dioxygenase and the immune microenvironment in gastric adenocarcinoma.Histopathology. 2018 Jul;73(1):124-136. doi: 10.1111/his.13504. Epub 2018 Apr 17.
12	MCM9 Is Required for Mammalian DNA Mismatch Repair.Mol Cell. 2015 Sep 3;59(5):831-9. doi: 10.1016/j.molcel.2015.07.010. Epub 2015 Aug 20.
13	Loss of MDC1 in Endometrial Carcinoma Is Associated With Loss of MRN Complex and MMR Deficiency.Anticancer Res. 2019 Dec;39(12):6547-6553. doi: 10.21873/anticanres.13870.
14	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.