Details of Disease

General Information of Disease (ID: DISB4UZ0)

• Disease Name: Rectal neoplasm
• Synonyms: tumour of the rectum; tumour of rectum; tumor of the rectum; tumor of rectum; rectum tumour; rectum tumor; rectum neoplasm (disease); rectum neoplasm; rectal tumour; rectal tumor; rectal neoplasm; neoplasm of the rectum; neoplasm of rectum
• Definition: A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.
• Disease Hierarchy:
  DISVGSPN: Rectal disorder
  DISTBY9Z: Tumour
  DISR1UCN: Colorectal neoplasm
  DISB4UZ0: Rectal neoplasm
• Disease Identifiers:
  MONDO ID: MONDO_0002165
  MESH ID: D012004
  UMLS CUI: C0034885
  MedGen ID: 11148
  HPO ID: HP:0100743
  SNOMED CT ID: 126847008

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Irinotecan	DMP6SC2	Approved	Small molecular drug	[1]
Oxaliplatin	DMQNWRD	Approved	Small molecular drug	[2]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDKN1B	TTLGFVW	moderate	Biomarker	[3]
HMGCS2	TTS0EZJ	Strong	Altered Expression	[4]
MLH1	TTISG27	Strong	Genetic Variation	[5]
NRAS	TTW2R9X	Strong	Biomarker	[6]
TYMS	TTP1UKZ	Definitive	Biomarker	[7]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DYNLL2	OTLIT58K	Limited	Altered Expression	[8]
PRKAG2	OTHTAM54	Limited	Genetic Variation	[9]
STARD13	OTB4U1HY	Limited	Altered Expression	[8]
MCC	OTQVI1EM	moderate	Biomarker	[10]
MUC2	OT3X4QVX	moderate	Biomarker	[11]
MSH6	OT46FP09	Strong	Biomarker	[12]
PDZK1IP1	OTWA6M5K	Strong	Biomarker	[13]
PMS2	OTNLWTMI	Strong	Biomarker	[12]
APC	OTKV0TIK	Definitive	Genetic Variation	[14]

References

• [1] Irinotecan FDA Label
• [2] Oxaliplatin FDA Label
• [3] Expression of p27 in residual rectal cancer after preoperative chemoradiation predicts long-term outcome.Ann Surg Oncol. 2004 Nov;11(11):955-61. doi: 10.1245/ASO.2004.03.095. Epub 2004 Oct 15.
• [4] Ketogenic HMGCS2 Is a c-Myc target gene expressed in differentiated cells of human colonic epithelium and down-regulated in colon cancer.Mol Cancer Res. 2006 Sep;4(9):645-53. doi: 10.1158/1541-7786.MCR-05-0267. Epub 2006 Aug 28.
• [5] Dietary fat and risk of colon and rectal cancer with aberrant MLH1 expression, APC or KRAS genes.Cancer Causes Control. 2007 Oct;18(8):865-79. doi: 10.1007/s10552-007-9032-6. Epub 2007 Jul 18.
• [6] Amino-acid substitution at codon 13 of the N-ras oncogene in rectal cancer in a Japanese patient.Jpn J Cancer Res. 1987 Jan;78(1):21-6.
• [7] Thymidylate synthase gene polymorphism and survival of colorectal cancer patients receiving adjuvant 5-fluorouracil.Genet Test Mol Biomarkers. 2013 Nov;17(11):799-806. doi: 10.1089/gtmb.2013.0171. Epub 2013 Aug 22.
• [8] Expression profile of the tumor suppressor genes DLC-1 and DLC-2 in solid tumors.Int J Oncol. 2006 Nov;29(5):1127-32.
• [9] Genetic variation in a metabolic signaling pathway and colon and rectal cancer risk: mTOR, PTEN, STK11, RPKAA1, PRKAG2, TSC1, TSC2, PI3K and Akt1.Carcinogenesis. 2010 Sep;31(9):1604-11. doi: 10.1093/carcin/bgq142. Epub 2010 Jul 9.
• [10] Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.J Med Genet. 1994 Apr;31(4):312-6. doi: 10.1136/jmg.31.4.312.
• [11] Short chain fatty acids and colon cancer.J Nutr. 2002 Dec;132(12):3804S-3808S. doi: 10.1093/jn/132.12.3804S.
• [12] Molecular characteristics of mismatch repair genes in sporadic colorectal tumors in Czech patients.BMC Med Genet. 2014 Jan 31;15:17. doi: 10.1186/1471-2350-15-17.
• [13] MAP17 (PDZK1IP1) and pH2AX are potential predictive biomarkers for rectal cancer treatment efficacy.Oncotarget. 2018 Aug 31;9(68):32958-32971. doi: 10.18632/oncotarget.26010. eCollection 2018 Aug 31.
• [14] Meat and fish consumption, APC gene mutations and hMLH1 expression in colon and rectal cancer: a prospective cohort study (The Netherlands).Cancer Causes Control. 2005 Nov;16(9):1041-54. doi: 10.1007/s10552-005-0239-0.