CRCS3
MCID: CLR075
MIFTS: 36

Colorectal Cancer 3 (CRCS3)

Categories: Blood diseases, Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Colorectal Cancer 3

MalaCards integrated aliases for Colorectal Cancer 3:

Name: Colorectal Cancer 3 56 73 29 6
Colorectal Cancer, Susceptibility to, 3 56 13
Crcs3 56 73
Colorectal Cancer, Susceptibility to, on Chromosome 18 56
Susceptibility to Colorectal Cancer on Chromosome 18 73
Cancer, Colorectal, Susceptibility to, Type 3 39
Colorectal Cancer on Chromosome 18 56

Characteristics:

HPO:

31
colorectal cancer 3:
Inheritance heterogeneous


Classifications:



External Ids:

OMIM 56 612229
MeSH 43 D015179
MedGen 41 C2677123
SNOMED-CT via HPO 68 363406005

Summaries for Colorectal Cancer 3

UniProtKB/Swiss-Prot : 73 Colorectal cancer 3: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

MalaCards based summary : Colorectal Cancer 3, also known as colorectal cancer, susceptibility to, 3, is related to lynch syndrome i and myeloid leukemia. An important gene associated with Colorectal Cancer 3 is SMAD7 (SMAD Family Member 7), and among its related pathways/superpathways is Lung fibrosis. The drugs Oxaliplatin and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include colon, liver and lymph node, and related phenotype is colon cancer.

More information from OMIM: 612229

Related Diseases for Colorectal Cancer 3

Diseases in the Colorectal Cancer family:

Colorectal Cancer 1 Colorectal Cancer 2
Colorectal Cancer 3 Colorectal Cancer 5
Colorectal Cancer 6 Colorectal Cancer 7
Colorectal Cancer 8 Colorectal Cancer 9
Colorectal Cancer 10 Colorectal Cancer 11
Colorectal Cancer 12 Familial Colorectal Cancer
Familial Colorectal Cancer Type X

Diseases related to Colorectal Cancer 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lynch syndrome i 11.4
2 myeloid leukemia 9.8
3 ureteral disease 9.4 SMAD7 HMOX1
4 inflammatory bowel disease 9.2 SMAD7 HMOX1

Symptoms & Phenotypes for Colorectal Cancer 3

Human phenotypes related to Colorectal Cancer 3:

31
# Description HPO Frequency HPO Source Accession
1 colon cancer 31 HP:0003003

Clinical features from OMIM:

612229

Drugs & Therapeutics for Colorectal Cancer 3

Drugs for Colorectal Cancer 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 6857599 43805
2
Bevacizumab Approved, Investigational Phase 3 216974-75-3
3
Cetuximab Approved Phase 3 205923-56-4 56842117 2333
4
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
5 Antineoplastic Agents, Immunological Phase 3
6 Angiogenesis Inhibitors Phase 3
7 Antimetabolites Phase 3
8
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
9
Palbociclib Approved, Investigational Phase 2 571190-30-2 11431660 5005498 5330286
10
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
11 Cyclin-Dependent Kinase Inhibitor Proteins Phase 2
12 Protein Kinase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cetuximab Added to Capecitabine, Oxaliplatin and Bevacizumab in Patients With Previously Untreated Advanced Colorectal Carcinoma, a Randomised Phase III Study Completed NCT00208546 Phase 3 21Capecitabine + bevacizumab + oxaliplatin;1Capecitabine + oxaliplatin + bevacizumab + cetuximab
2 Phase 2 Study of Bevacizumab in Combination With Alternating Xeliri and Xelox as First-line Treatment of Patients With Metastatic Colorectal Cancer Recruiting NCT01531595 Phase 2 Bevacizumab plus alternating Xelox/Xeliri
3 Phase II Trial of the Cyclin-Dependent Kinase Inhibitor PD 0332991 in Patients With Cancer Recruiting NCT01037790 Phase 2 PD-0332991
4 The Continuing Care Needs From Receiving Treatment to Survival in Colorectal Cancer Patients in Different Stages Unknown status NCT00961129
5 3'-Deoxy-3'-18F-fluorothymidine Positron Emission Tomography ([18F] FLT-PET) for the Prediction of Response to Regorafenib in the Metastatic Colorectal Cancer Patients Who Progressed After All Standard Therapies Active, not recruiting NCT02175095 Regorafenib

Search NIH Clinical Center for Colorectal Cancer 3

Genetic Tests for Colorectal Cancer 3

Genetic tests related to Colorectal Cancer 3:

# Genetic test Affiliating Genes
1 Colorectal Cancer 3 29 SMAD7

Anatomical Context for Colorectal Cancer 3

MalaCards organs/tissues related to Colorectal Cancer 3:

40
Colon, Liver, Lymph Node, Brain, Lung, Pancreas, Prostate

Publications for Colorectal Cancer 3

Articles related to Colorectal Cancer 3:

(show all 44)
# Title Authors PMID Year
1
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. 56 6
18372905 2008
2
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. 56 6
18372901 2008
3
A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. 56 6
17934461 2007
4
3-month versus 6-month adjuvant chemotherapy for patients with high-risk stage II and III colorectal cancer: 3-year follow-up of the SCOT non-inferiority RCT. 61
31852579 2019
5
Clinical significance of Leptin receptor (LEPR) and Endoglin (CD105) expressions in colorectal adenocarcinoma. 61
31983119 2019
6
Promising results of a new treatment in patients with bowel obstruction in colorectal surgery. 61
31676200 2019
7
Hypertensive Crisis during Microwave Ablation of Adrenal Neoplasms: A Retrospective Analysis of Predictive Factors. 61
31155498 2019
8
[Nivolumab-induced hypothyroidism: A case report]. 61
30837393 2019
9
Whole-Gland Prostate Cancer Cryoablation with Magnetic Resonance Imaging Guidance: One-Year Follow-Up. 61
29043385 2018
10
Total parietal peritonectomy with en bloc pelvic resection for advanced ovarian cancer with peritoneal carcinomatosis. 61
27743737 2016
11
A Phase I Trial to Evaluate Antibody-Dependent Cellular Cytotoxicity of Cetuximab and Lenalidomide in Advanced Colorectal and Head and Neck Cancer. 61
27458141 2016
12
Determining the familial risk distribution of colorectal cancer: a data mining approach. 61
26681340 2016
13
Comparison of human gut microbiota in control subjects and patients with colorectal carcinoma in adenoma: Terminal restriction fragment length polymorphism and next-generation sequencing analyses. 61
26549775 2016
14
Nut consumption and risk of cancer and type 2 diabetes: a systematic review and meta-analysis. 61
26081452 2015
15
Systematic review and meta-analysis of histopathological predictive factors for lymph node metastasis in T1 colorectal cancer. 61
25725617 2015
16
Acceptability and yield of birth-cohort screening for hepatitis C virus in a Canadian population being screened for colorectal cancer: a cross-sectional study. 61
25844371 2015
17
[The future incidence of colorectal and lung cancers: results of the calculation of different scenarios for the year 2020]. 61
24357179 2014
18
Colorectal cancer in a monoallelic MYH mutation carrier. 61
23625202 2013
19
Ovarian metastases of colorectal and duodenal cancer in familial adenomatous polyposis. 61
22941256 2012
20
A phase 1 study of hepatic arterial infusion of oxaliplatin in combination with systemic 5-fluorouracil, leucovorin, and bevacizumab in patients with advanced solid tumors metastatic to the liver. 61
20564148 2010
21
The importance of relationships in the experience of cancer: a re-working of the policy ideal of the whole-systems approach. 61
19748315 2010
22
The relationship between the local and systemic inflammatory responses and survival in patients undergoing curative surgery for colon and rectal cancers. 61
19768511 2009
23
Adjuvant therapy for colon cancer. 61
17991344 2007
24
Laparoscopic intraperitoneal hyperthermic chemotherapy for palliation of debilitating malignant ascites. 61
16631341 2006
25
Bcr-abl positive blast crisis of chronic myeloid leukemia emerging in a case of metastatic colorectal cancer 3 months after completion of an 8-month course of cetuximab and irinotecan. 61
16494624 2006
26
Change of the growth hormone-insulin-like growth factor-I axis in patients with gastrointestinal cancer: related to tumour type and nutritional status. 61
16022754 2005
27
A scoring system for the strength of a family history of colorectal cancer. 61
15785893 2005
28
Early lymphopenia as a risk factor for chemotherapy-induced febrile neutropenia. 61
12879430 2003
29
Medical students, clinical preventive services, and shared decision-making. 61
12431938 2002
30
Endoluminal ultraflex stent for palliative treatment of malignant rectosigmoidal obstruction. 61
12471721 2002
31
GP letter writing in colorectal cancer: a qualitative study. 61
12442881 2002
32
Molecular basis of colorectal cancer - role of gastrin and cyclooxygenase-2. 61
11687726 2001
33
Heparanase expression in clinical digestive malignancies. 61
11295076 2001
34
Tumor hepatocytes and basement membrane-Producing cells specifically express two different forms of the endostatin precursor, collagen XVIII, in human liver cancers. 61
11283851 2001
35
[Surgery for metastatic brain and spinal tumor from colorectal cancer]. 61
10560404 1999
36
No association of the I1307K APC allele with ovarian cancer risk in Ashkenazi Jews. 61
9679945 1998
37
Intermittent hepatic arterial infusion of high-dose 5FU on a weekly schedule for liver metastases from colorectal cancer. 61
9332468 1997
38
Cancer incidence among alachlor manufacturing workers. 61
8876798 1996
39
Endobronchial metastatic disease: analysis of 32 cases. 61
8691837 1996
40
[Comparison of the pattern of integrin expression between primary tumors and liver metastasis of gastric and colorectal cancers]. 61
7630007 1995
41
Adjuvant internal hepatic radiotherapy using colloidal 32P chromic phosphate in colorectal cancer. 61
2093946 1990
42
Regional hepatic chemotherapy using an implantable drug infusion pump. 61
6220618 1983
43
Activity of 4'-0-tetrahydropyranyladriamycin hydrochloride (THP-ADM) in a human tumor cloning system. 61
6687222 1983
44
Evaluation of a human pancreas-specific antigen by enzyme-linked immunosorbent assay. 61
7318179 1981

Variations for Colorectal Cancer 3

ClinVar genetic disease variations for Colorectal Cancer 3:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMAD7 NM_005904.3(SMAD7):c.743-5183=SNV risk factor 6725 rs4939827 18:46453463-46453463 18:48927093-48927093

Cosmic variations for Colorectal Cancer 3:

9 (show top 50) (show all 745)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87925845 TP53 large intestine,colon,adenoma,NS c.733G>C p.G245R 17:7674230-7674230 3
2 COSM87902864 TP53 large intestine,colon,adenoma,NS c.641A>G p.H214R 17:7674890-7674890 3
3 COSM88223016 TP53 large intestine,colon,adenoma,NS c.391A>C p.N131H 17:7675221-7675221 3
4 COSM87899785 TP53 large intestine,rectum,other,ulcerative colitis c.991C>T p.Q331* 17:7673537-7673537 3
5 COSM87898578 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 3
6 COSM88376117 TP53 large intestine,rectum,adenoma,NS c.853G>C p.E285Q 17:7673767-7673767 3
7 COSM87906123 TP53 large intestine,rectum,adenoma,NS c.432G>C p.Q144H 17:7675180-7675180 3
8 COSM87901765 TP53 large intestine,rectum,adenoma,NS c.734G>A p.G245D 17:7674229-7674229 3
9 COSM87927805 TP53 large intestine,rectum,adenoma,NS c.523C>G p.R175G 17:7675089-7675089 3
10 COSM87898818 TP53 large intestine,colon,adenoma,NS c.916C>T p.R306* 17:7673704-7673704 3
11 COSM87897745 TP53 large intestine,rectum,adenoma,NS c.524G>A p.R175H 17:7675088-7675088 3
12 COSM90693261 STK11 large intestine,rectum,adenoma,NS c.842C>T p.P281L 19:1221320-1221320 3
13 COSM90691966 STK11 large intestine,colon,adenoma,NS c.511G>A p.G171S 19:1220419-1220419 3
14 COSM91382025 SMAD4 large intestine,colon,adenoma,NS c.988G>C p.E330Q 18:51065455-51065455 3
15 COSM91397295 SMAD4 large intestine,rectum,other,ulcerative colitis c.1546C>T p.Q516* 18:51078354-51078354 3
16 COSM91397656 SMAD4 large intestine,colon,adenoma,NS c.1064A>C p.D355A 18:51065531-51065531 3
17 COSM91380674 SMAD4 large intestine,rectum,adenoma,NS c.1082G>A p.R361H 18:51065549-51065549 3
18 COSM86640829 RB1 large intestine,rectum,adenoma,NS c.1644A>C p.K548N 13:48381392-48381392 3
19 COSM97107772 NRAS large intestine,colon,adenoma,NS c.37G>C p.G13R 1:114716124-114716124 3
20 COSM97107359 NRAS large intestine,rectum,adenoma,NS c.182A>G p.Q61R 1:114713908-114713908 3
21 COSM85462709 MSH2 large intestine,colon,adenoma,NS c.589A>G p.K197E 2:47410316-47410316 3
22 COSM87804055 KRAS large intestine,colon,other,ulcerative colitis c.35G>T p.G12V 12:25245350-25245350 3
23 COSM87804068 KRAS large intestine,rectum,adenoma,NS c.34G>A p.G12S 12:25245351-25245351 3
24 COSM87804075 KRAS large intestine,colon,adenoma,NS c.34G>T p.G12C 12:25245351-25245351 3
25 COSM87804028 KRAS large intestine,colon,adenoma,NS c.38G>A p.G13D 12:25245347-25245347 3
26 COSM87804005 KRAS large intestine,colon,adenoma,NS c.35G>A p.G12D 12:25245350-25245350 3
27 COSM87808527 KRAS large intestine,rectum,adenoma,NS c.182A>T p.Q61L 12:25227342-25227342 3
28 COSM87805079 KRAS large intestine,rectum,adenoma,NS c.183A>C p.Q61H 12:25227341-25227341 3
29 COSM87804155 KRAS large intestine,rectum,adenoma,NS c.34G>C p.G12R 12:25245351-25245351 3
30 COSM87804083 KRAS large intestine,colon,adenoma,NS c.35G>C p.G12A 12:25245350-25245350 3
31 COSM87811077 KRAS large intestine,colon,other,ulcerative colitis c.37G>A p.G13S 12:25245348-25245348 3
32 COSM87805356 KRAS large intestine,rectum,adenoma,NS c.183A>T p.Q61H 12:25227341-25227341 3
33 COSM93760866 GNAS large intestine,rectum,adenoma,NS c.2530C>T p.R844C 20:58909365-58909365 3
34 COSM93760887 GNAS large intestine,colon,adenoma,NS c.2531G>A p.R844H 20:58909366-58909366 3
35 COSM141971230 FBXW7 large intestine,colon,adenoma,NS c.1558G>A p.D520N 4:152326092-152326092 3
36 COSM141953409 FBXW7 large intestine,rectum,adenoma,NS c.1513C>T p.R505C 4:152326137-152326137 3
37 COSM141953587 FBXW7 large intestine,colon,adenoma,NS c.832C>T p.R278* 4:152337831-152337831 3
38 COSM141954683 FBXW7 large intestine,rectum,adenoma,NS c.892C>T p.P298S 4:152332689-152332689 3
39 COSM141959845 FBXW7 large intestine,colon,adenoma,NS c.1514G>A p.R505H 4:152326136-152326136 3
40 COSM141953227 FBXW7 large intestine,colon,adenoma,NS c.1393C>T p.R465C 4:152328233-152328233 3
41 COSM141958901 FBXW7 large intestine,rectum,adenoma,NS c.1436G>T p.R479L 4:152326214-152326214 3
42 COSM141953665 FBXW7 large intestine,colon,adenoma,NS c.1394G>A p.R465H 4:152328232-152328232 3
43 COSM86757152 EGFR large intestine,colon,adenoma,NS c.1787C>T p.P596L 7:55165344-55165344 3
44 COSM150913542 CTNNB1 large intestine,colon,adenoma,NS c.134C>T p.S45F 3:41224646-41224646 3
45 COSM150913621 CTNNB1 large intestine,colon,adenoma,NS c.97T>C p.S33P 3:41224609-41224609 3
46 COSM150913795 CTNNB1 large intestine,rectum,adenoma,NS c.109T>C p.S37P 3:41224621-41224621 3
47 COSM150913536 CTNNB1 large intestine,colon,adenoma,NS c.121A>G p.T41A 3:41224633-41224633 3
48 COSM150913580 CTNNB1 large intestine,colon,adenoma,NS c.104T>G p.I35S 3:41224616-41224616 3
49 COSM150913727 CTNNB1 large intestine,colon,adenoma,NS c.101G>A p.G34E 3:41224613-41224613 3
50 COSM150913545 CTNNB1 large intestine,colon,adenoma,NS c.133T>C p.S45P 3:41224645-41224645 3

Expression for Colorectal Cancer 3

Search GEO for disease gene expression data for Colorectal Cancer 3.

Pathways for Colorectal Cancer 3

Pathways related to Colorectal Cancer 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.42 SMAD7 HMOX1

GO Terms for Colorectal Cancer 3

Biological processes related to Colorectal Cancer 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of DNA-binding transcription factor activity GO:0043433 8.62 SMAD7 HMOX1

Sources for Colorectal Cancer 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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