Colorectal cancer
- Synonyms
- Colorectal cancer, somatic; Malignant Colorectal Neoplasm
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Gregory Idos
- Laura Valle
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (230 available)
Biochemical Genetics Tests
Cytogenetics Tests
Molecular Genetics Tests
- Mutation scanning of the entire coding region (1)
- Methylation analysis (3)
- Mutation scanning of select exons (4)
- Sequence analysis of select exons (12)
- Sequence analysis of the entire coding region (165)
- Targeted variant analysis (30)
- Deletion/duplication analysis (92)
- Microsatellite instability testing (MSI) (4)
Genes See tests for all associated and related genes
Also known as: AKT, PKB, PKB-ALPHA, PRKBA, RAC, RAC-ALPHA, AKT1
Summary: AKT serine/threonine kinase 1Also known as: BTPS2, DESMD, DP2, DP2.5, DP3, GS, PPP1R46, APC
Summary: APC regulator of WNT signaling pathwayAlso known as: AIK, ARK1, AURA, BTAK, PPP1R47, STK15, STK6, STK7, AURKA
Summary: aurora kinase AAlso known as: AXIL, ODCRCS, AXIN2
Summary: axin 2Also known as: BCL2L4, BAX
Summary: BCL2 associated X, apoptosis regulatorAlso known as: B-RAF1, B-raf, BRAF-1, BRAF1, NS7, RAFB1, BRAF
Summary: B-Raf proto-oncogene, serine/threonine kinaseAlso known as: BUB1A, BUB1L, MCPH30, hBUB1, BUB1
Summary: BUB1 mitotic checkpoint serine/threonine kinaseAlso known as: BUB1beta, BUBR1, Bub1A, MAD3L, MVA1, SSK1, hBUBR1, BUB1B
Summary: BUB1 mitotic checkpoint serine/threonine kinase BAlso known as: BCL1, D11S287E, PRAD1, U21B31, CCND1
Summary: cyclin D1Also known as: CTNNB, EVR7, MRD19, NEDSDV, armadillo, CTNNB1
Summary: catenin beta 1Also known as: CRC18, CRCR1, HGPPS2, IGDCC1, MRMV1, NTN1R1, DCC
Summary: DCC netrin 1 receptorAlso known as: ARHGAP7, HP, STARD12, p122-RhoGAP, DLC1
Summary: DLC1 Rho GTPase activating proteinAlso known as: KAT3B, MKHK2, RSTS2, p300, EP300
Summary: E1A binding protein p300Also known as: ACH, CD333, CEK2, HSFGFR3EX, JTK4, FGFR3
Summary: fibroblast growth factor receptor 3Also known as: BHD, DENND8B, FLCL, FLCN
Summary: folliculinAlso known as: MCC1, MCC
Summary: MCC regulator of WNT signaling pathwayAlso known as: HNPCC7, MLH3
Summary: mutL homolog 3Also known as: ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS1, NS6, NRAS
Summary: NRAS proto-oncogene, GTPaseAlso known as: PDGRL, PRLTS, PDGFRL
Summary: platelet derived growth factor receptor likeAlso known as: CCM4, CLAPO, CLOVE, CWS5, HMH, MCAP, MCM, MCMTC, PI3K, PI3K-alpha, p110-alpha, PIK3CA
Summary: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alphaAlso known as: MOM1, PLA2, PLA2B, PLA2L, PLA2S, PLAS1, sPLA2, PLA2G2A
Summary: phospholipase A2 group IIAAlso known as: PTP-PEST, PTPG1, PTPN12
Summary: protein tyrosine phosphatase non-receptor type 12Also known as: CD148, DEP1, HPTP eta, HPTPeta, R-PTP-ETA, R-PTP-J, SCC1, THC10, PTPRJ
Summary: protein tyrosine phosphatase receptor type JAlso known as: RDH54, RAD54B
Summary: RAD54 homolog BAlso known as: ASV, SRC1, THC6, c-SRC, p60-Src, SRC
Summary: SRC proto-oncogene, non-receptor tyrosine kinaseAlso known as: CD282, TIL4, TLR2
Summary: toll like receptor 2Also known as: BCC7, BMFS5, LFS1, P53, TRP53, TP53
Summary: tumor protein p53
Clinical features
Help- Abnormality of the digestive system
- Hereditary nonpolyposis colorectal carcinoma
Hereditary nonpolyposis colorectal carcinoma
- MedGen UID: 870541
- Concept ID: C4024989
- Finding: Neoplastic Process
Abnormality of the digestive system
- Neoplasm of stomach
Neoplasm of stomach
- MedGen UID: 20958
- Concept ID: C0038356
- Finding: Neoplastic Process
Abnormality of the digestive system
- Hereditary nonpolyposis colorectal carcinoma
- Neoplasm
- Renal cell carcinoma
Renal cell carcinoma
- MedGen UID: 766
- Concept ID: C0007134
- Finding: Neoplastic Process
Neoplasm
- Transitional cell carcinoma of the bladder
Transitional cell carcinoma of the bladder
- MedGen UID: 76013
- Concept ID: C0279680
- Finding: Neoplastic Process
Neoplasm
- Uterine leiomyosarcoma
Uterine leiomyosarcoma
- MedGen UID: 83679
- Concept ID: C0280631
- Finding: Neoplastic Process
Neoplasm
- Renal cell carcinoma
- NCI PDQ, Genetics of Colorectal CancerGenetics of Colorectal Cancer (PDQ®): Health Professional Version
- NCI PDQ, Cancer Genetics CounselingCancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version
- NICE, 2021UK NICE Guideline NG151, Colorectal cancer, 2021
- OMIM
- View AKT1 variations in ClinVar
- View APC variations in ClinVar
- View BAX variations in ClinVar
- View CCND1 variations in ClinVar
- View BRAF variations in ClinVar
- View BUB1 variations in ClinVar
- View BUB1B variations in ClinVar
- View CTNNB1 variations in ClinVar
- View DCC variations in ClinVar
- View EP300 variations in ClinVar
- View FGFR3 variations in ClinVar
- View MCC variations in ClinVar
- View NRAS variations in ClinVar
- View PDGFRL variations in ClinVar
- View PIK3CA variations in ClinVar
- View PLA2G2A variations in ClinVar
- View PTPN12 variations in ClinVar
- View PTPRJ variations in ClinVar
- View SRC variations in ClinVar
- View AURKA variations in ClinVar
- View TLR2 variations in ClinVar
- View TP53 variations in ClinVar
- View AXIN2 variations in ClinVar
- View DLC1 variations in ClinVar
- View RAD54B variations in ClinVar
- View MLH3 variations in ClinVar
- View FLCN variations in ClinVar
- RefSeqGene
- Coriell Institute for Medical Research
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