CRCS3
MCID: CLR075
MIFTS: 32

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 57 74 29 6
Colorectal Cancer, Susceptibility to, 3 57 13
Crcs3 57 74
Colorectal Cancer, Susceptibility to, on Chromosome 18 57
Susceptibility to Colorectal Cancer on Chromosome 18 74
Cancer, Colorectal, Susceptibility to, Type 3 40
Colorectal Cancer on Chromosome 18 57

Characteristics:

HPO:

32
colorectal cancer 3:
Inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 612229
MeSH 44 D015179
MedGen 42 C2677123

Summaries for Colorectal Cancer 3

UniProtKB/Swiss-Prot : 74 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 colorectal cancer. An important gene associated with Colorectal Cancer 3 is SMAD7 (SMAD Family Member 7). The drugs Oxaliplatin and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include colon, liver and brain, 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 colorectal cancer 9.8
3 myeloid leukemia 9.8

Symptoms & Phenotypes for Colorectal Cancer 3

Human phenotypes related to Colorectal Cancer 3:

32
# Description HPO Frequency HPO Source Accession
1 colon cancer 32 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 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 43805 6857599
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 Angiogenesis Inhibitors Phase 3
6 Angiogenesis Modulating Agents Phase 3
7 Antineoplastic Agents, Immunological Phase 3
8 Antimetabolites Phase 3
9 Antimetabolites, Antineoplastic Phase 3
10
Irinotecan Approved, Investigational Phase 2 100286-90-6, 97682-44-5 60838
11
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
12
Palbociclib Approved, Investigational Phase 2 571190-30-2 5330286 11431660 5005498
13 Cyclin-Dependent Kinase Inhibitor Proteins Phase 2
14 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:

41
Colon, Liver, Brain, Prostate, Lung, Pancreas, Lymph Node

Publications for Colorectal Cancer 3

Articles related to Colorectal Cancer 3:

(show all 41)
# Title Authors PMID Year
1
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. 8 71
18372905 2008
2
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. 8 71
18372901 2008
3
A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. 8 71
17934461 2007
4
Hypertensive Crisis during MW Ablation of Adrenal Neoplasms: A Retrospective Analysis of Predictive Factors. 38
31155498 2019
5
[Nivolumab-induced hypothyroidism: A case report]. 38
30837393 2019
6
Whole-Gland Prostate Cancer Cryoablation with Magnetic Resonance Imaging Guidance: One-Year Follow-Up. 38
29043385 2018
7
Total parietal peritonectomy with en bloc pelvic resection for advanced ovarian cancer with peritoneal carcinomatosis. 38
27743737 2016
8
A Phase I Trial to Evaluate Antibody-Dependent Cellular Cytotoxicity of Cetuximab and Lenalidomide in Advanced Colorectal and Head and Neck Cancer. 38
27458141 2016
9
Determining the familial risk distribution of colorectal cancer: a data mining approach. 38
26681340 2016
10
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. 38
26549775 2016
11
Systematic review and meta-analysis of histopathological predictive factors for lymph node metastasis in T1 colorectal cancer. 38
25725617 2015
12
Nut consumption and risk of cancer and type 2 diabetes: a systematic review and meta-analysis. 38
26081452 2015
13
Acceptability and yield of birth-cohort screening for hepatitis C virus in a Canadian population being screened for colorectal cancer: a cross-sectional study. 38
25844371 2015
14
[The future incidence of colorectal and lung cancers: results of the calculation of different scenarios for the year 2020]. 38
24357179 2014
15
Colorectal cancer in a monoallelic MYH mutation carrier. 38
23625202 2013
16
Ovarian metastases of colorectal and duodenal cancer in familial adenomatous polyposis. 38
22941256 2012
17
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. 38
20564148 2010
18
The importance of relationships in the experience of cancer: a re-working of the policy ideal of the whole-systems approach. 38
19748315 2010
19
The relationship between the local and systemic inflammatory responses and survival in patients undergoing curative surgery for colon and rectal cancers. 38
19768511 2009
20
Adjuvant therapy for colon cancer. 38
17991344 2007
21
Laparoscopic intraperitoneal hyperthermic chemotherapy for palliation of debilitating malignant ascites. 38
16631341 2006
22
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. 38
16494624 2006
23
Change of the growth hormone-insulin-like growth factor-I axis in patients with gastrointestinal cancer: related to tumour type and nutritional status. 38
16022754 2005
24
A scoring system for the strength of a family history of colorectal cancer. 38
15785893 2005
25
Early lymphopenia as a risk factor for chemotherapy-induced febrile neutropenia. 38
12879430 2003
26
Medical students, clinical preventive services, and shared decision-making. 38
12431938 2002
27
GP letter writing in colorectal cancer: a qualitative study. 38
12442881 2002
28
Endoluminal ultraflex stent for palliative treatment of malignant rectosigmoidal obstruction. 38
12471721 2002
29
Molecular basis of colorectal cancer - role of gastrin and cyclooxygenase-2. 38
11687726 2001
30
Heparanase expression in clinical digestive malignancies. 38
11295076 2001
31
Tumor hepatocytes and basement membrane-Producing cells specifically express two different forms of the endostatin precursor, collagen XVIII, in human liver cancers. 38
11283851 2001
32
[Surgery for metastatic brain and spinal tumor from colorectal cancer]. 38
10560404 1999
33
No association of the I1307K APC allele with ovarian cancer risk in Ashkenazi Jews. 38
9679945 1998
34
Intermittent hepatic arterial infusion of high-dose 5FU on a weekly schedule for liver metastases from colorectal cancer. 38
9332468 1997
35
Cancer incidence among alachlor manufacturing workers. 38
8876798 1996
36
Endobronchial metastatic disease: analysis of 32 cases. 38
8691837 1996
37
[Comparison of the pattern of integrin expression between primary tumors and liver metastasis of gastric and colorectal cancers]. 38
7630007 1995
38
Adjuvant internal hepatic radiotherapy using colloidal 32P chromic phosphate in colorectal cancer. 38
2093946 1990
39
Regional hepatic chemotherapy using an implantable drug infusion pump. 38
6220618 1983
40
Activity of 4'-0-tetrahydropyranyladriamycin hydrochloride (THP-ADM) in a human tumor cloning system. 38
6687222 1983
41
Evaluation of a human pancreas-specific antigen by enzyme-linked immunosorbent assay. 38
7318179 1981

Variations for Colorectal Cancer 3

ClinVar genetic disease variations for Colorectal Cancer 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SMAD7 NM_005904.3(SMAD7): c.743-5183= single nucleotide variant risk factor rs4939827 18:46453463-46453463 18:48927093-48927093

Cosmic variations for Colorectal Cancer 3:

9 (show top 50) (show all 91)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6932 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 3
2 COSM45138 TP53 large intestine,colon,adenoma,NS c.853G>C p.E285Q 17:7673767-7673767 3
3 COSM45076 TP53 large intestine,rectum,adenoma,NS c.432G>C p.Q144H 17:7675180-7675180 3
4 COSM11354 TP53 large intestine,rectum,other,ulcerative colitis c.991C>T p.Q331* 17:7673537-7673537 3
5 COSM43606 TP53 large intestine,rectum,adenoma,NS c.734G>A p.G245D 17:7674229-7674229 3
6 COSM10870 TP53 large intestine,rectum,adenoma,NS c.523C>G p.R175G 17:7675089-7675089 3
7 COSM43687 TP53 large intestine,colon,adenoma,NS c.641A>G p.H214R 17:7674890-7674890 3
8 COSM10648 TP53 large intestine,rectum,adenoma,NS c.524G>A p.R175H 17:7675088-7675088 3
9 COSM10957 TP53 large intestine,colon,adenoma,NS c.733G>C p.G245R 17:7674230-7674230 3
10 COSM43535 TP53 large intestine,colon,adenoma,NS c.391A>C p.N131H 17:7675221-7675221 3
11 COSM10663 TP53 large intestine,colon,adenoma,NS c.916C>T p.R306* 17:7673704-7673704 3
12 COSM21355 STK11 large intestine,rectum,adenoma,NS c.842C>T p.P281L 19:1221320-1221320 3
13 COSM21354 STK11 large intestine,colon,adenoma,NS c.511G>A p.G171S 19:1220419-1220419 3
14 COSM14240 SMAD4 large intestine,colon,adenoma,NS c.988G>C p.E330Q 18:51065455-51065455 3
15 COSM14241 SMAD4 large intestine,colon,adenoma,NS c.1064A>C p.D355A 18:51065531-51065531 3
16 COSM14122 SMAD4 large intestine,rectum,adenoma,NS c.1082G>A p.R361H 18:51065549-51065549 3
17 COSM14143 SMAD4 large intestine,rectum,other,ulcerative colitis c.1546C>T p.Q516* 18:51078354-51078354 3
18 COSM5985099 RB1 large intestine,rectum,adenoma,NS c.1644A>C p.K548N 13:48381392-48381392 3
19 COSM569 NRAS large intestine,colon,adenoma,NS c.37G>C p.G13R 1:114716124-114716124 3
20 COSM584 NRAS large intestine,rectum,adenoma,NS c.182A>G p.Q61R 1:114713908-114713908 3
21 COSM6503131 MSH2 large intestine,colon,adenoma,NS c.589A>G p.K197E 2:47410316-47410316 3
22 COSM520 KRAS large intestine,rectum,adenoma,NS c.35G>T p.G12V 12:25245350-25245350 3
23 COSM521 KRAS large intestine,rectum,adenoma,NS c.35G>A p.G12D 12:25245350-25245350 3
24 COSM532 KRAS large intestine,rectum,adenoma,NS c.38G>A p.G13D 12:25245347-25245347 3
25 COSM553 KRAS large intestine,rectum,adenoma,NS c.182A>T p.Q61L 12:25227342-25227342 3
26 COSM516 KRAS large intestine,colon,adenoma,NS c.34G>T p.G12C 12:25245351-25245351 3
27 COSM528 KRAS large intestine,colon,other,ulcerative colitis c.37G>A p.G13S 12:25245348-25245348 3
28 COSM554 KRAS large intestine,rectum,adenoma,NS c.183A>C p.Q61H 12:25227341-25227341 3
29 COSM517 KRAS large intestine,colon,adenoma,NS c.34G>A p.G12S 12:25245351-25245351 3
30 COSM522 KRAS large intestine,colon,adenoma,NS c.35G>C p.G12A 12:25245350-25245350 3
31 COSM518 KRAS large intestine,colon,adenoma,NS c.34G>C p.G12R 12:25245351-25245351 3
32 COSM555 KRAS large intestine,rectum,adenoma,NS c.183A>T p.Q61H 12:25227341-25227341 3
33 COSM27895 GNAS large intestine,rectum,adenoma,NS c.602G>A p.R201H 20:58909366-58909366 3
34 COSM27887 GNAS large intestine,colon,adenoma,NS c.601C>T p.R201C 20:58909365-58909365 3
35 COSM27058 FBXW7 large intestine,rectum,adenoma,NS c.1436G>T p.R479L 4:152326214-152326214 3
36 COSM22932 FBXW7 large intestine,colon,adenoma,NS c.1393C>T p.R465C 4:152328233-152328233 3
37 COSM22975 FBXW7 large intestine,rectum,adenoma,NS c.1513C>T p.R505C 4:152326137-152326137 3
38 COSM22971 FBXW7 large intestine,colon,adenoma,NS c.832C>T p.R278* 4:152337831-152337831 3
39 COSM30597 FBXW7 large intestine,rectum,adenoma,NS c.892C>T p.P298S 4:152332689-152332689 3
40 COSM22965 FBXW7 large intestine,colon,adenoma,NS c.1394G>A p.R465H 4:152328232-152328232 3
41 COSM25812 FBXW7 large intestine,colon,adenoma,NS c.1514G>A p.R505H 4:152326136-152326136 3
42 COSM30598 FBXW7 large intestine,colon,adenoma,NS c.1558G>A p.D520N 4:152326092-152326092 3
43 COSM21689 EGFR large intestine,colon,adenoma,NS c.1787C>T p.P596L 7:55165344-55165344 3
44 COSM5667 CTNNB1 large intestine,colon,adenoma,NS c.134C>T p.S45F 3:41224646-41224646 3
45 COSM5687 CTNNB1 large intestine,rectum,adenoma,NS c.109T>C p.S37P 3:41224621-41224621 3
46 COSM5671 CTNNB1 large intestine,colon,adenoma,NS c.101G>A p.G34E 3:41224613-41224613 3
47 COSM5664 CTNNB1 large intestine,colon,adenoma,NS c.121A>G p.T41A 3:41224633-41224633 3
48 COSM4675394 CTNNB1 large intestine,colon,adenoma,NS c.490G>A p.D164N 3:41225202-41225202 3
49 COSM5674 CTNNB1 large intestine,colon,adenoma,NS c.104T>G p.I35S 3:41224616-41224616 3
50 COSM5663 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

GO Terms for Colorectal Cancer 3

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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