MCID: FML053
MIFTS: 42

Familial Colorectal Cancer malady

Genetic diseases, Rare diseases, Cancer diseases categories

Summaries for Familial Colorectal Cancer

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34MalaCards
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MalaCards: Familial Colorectal Cancer, also known as colorectal cancer, familial, is related to colorectal cancer and lynch syndrome. An important gene associated with Familial Colorectal Cancer is ARL11 (ADP-ribosylation factor-like 11), and among its related pathways are Depurination and DNA Repair. The compounds 5-hydroxyuracil and adenine have been mentioned in the context of this disorder. Affiliated tissues include colon and testes, and related mouse phenotypes are tumorigenesis and homeostasis/metabolism.

Aliases & Classifications for Familial Colorectal Cancer

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Sources:
44NIH Rare Diseases, 23GTR, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases


Aliases & Descriptions:

familial colorectal cancer 44
colorectal cancer, familial 44 23
hereditary malignant neoplasm 63


Related Diseases for Familial Colorectal Cancer

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Sources:
18GeneCards, 19GeneDecks
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Graphical network of diseases related to Familial Colorectal Cancer:



Diseases related to familial colorectal cancer

Symptoms for Familial Colorectal Cancer

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Drugs & Therapeutics for Familial Colorectal Cancer

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Familial Colorectal Cancer

Drug clinical trials:

Search ClinicalTrials for Familial Colorectal Cancer

Search NIH Clinical Center for Familial Colorectal Cancer

Search CenterWatch for Familial Colorectal Cancer

Genetic Tests for Familial Colorectal Cancer

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23GTR
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Genetic tests related to Familial Colorectal Cancer:

id Genetic test Affiliating Genes
1 Familial Colorectal Cancer23

Anatomical Context for Familial Colorectal Cancer

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Sources:
34MalaCards
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MalaCards organs/tissues related to Familial Colorectal Cancer:

34
Colon, Testes

Animal Models for Familial Colorectal Cancer or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Familial Colorectal Cancer:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020067.6SMUG1, MPG, EPHB6, MUTYH, NEIL1
2MP:00053767.1SMUG1, MPG, EPHB6, MUTYH, NEIL1, SLC10A2

Publications for Familial Colorectal Cancer

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53PubMed
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Articles related to Familial Colorectal Cancer:

(show top 50)    (show all 131)
idTitleAuthorsYear
1
GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X. (24115450)
2014
2
Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review. (23007840)
2013
3
Eleven candidate susceptibility genes for common familial colorectal cancer. (24146633)
2013
4
Familial colorectal cancer risk assessment needs improvement for more effective cancer prevention in relatives. (23451840)
2013
5
Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer. (23245329)
2013
6
Hereditary colorectal cancer diagnostics: morphological features of familial colorectal cancer type X versus Lynch syndrome. (22287689)
2012
7
Familial colorectal cancer type X: polyp burden and cancer risk stratification via a family history score. (22295380)
2011
8
High detection rate of adenomas in familial colorectal cancer. (20833659)
2011
9
Variants in the netrin-1 receptor UNC5C prevent apoptosis and increase risk of familial colorectal cancer. (21893118)
2011
10
Somatic mutations and germline sequence variants in patients with familial colorectal cancer. (21351276)
2010
11
Undefined familial colorectal cancer. (21160768)
2009
12
Implications of familial colorectal cancer risk profiles and microsatellite instability status. (19307499)
2009
13
CpG island methylation in familial colorectal cancer patients not fulfilling the Amsterdam criteria. (18437011)
2008
14
Sessile serrated polyps of the colorectum are rare in patients with Lynch syndrome and in familial colorectal cancer families. (17929199)
2008
15
Effects of common haplotypes of the ileal sodium dependent bile acid transporter gene on the development of sporadic and familial colorectal cancer: a case control study. (18644122)
2008
16
Colonic adenoma risk in familial colorectal cancer--a study of six extended kindreds. (18671820)
2008
17
Psychosocial outcome following genetic risk counselling for familial colorectal cancer. A comparison of affected patients and family members. (18954412)
2008
18
Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer. (17449901)
2007
19
MLH3 and EXO1 alterations in familial colorectal cancer patients not fulfilling Amsterdam criteria. (17656264)
2007
20
Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome. (16762622)
2006
21
Can quantification of faecal occult blood predetermine the need for colonoscopy in patients at risk for non-syndromic familial colorectal cancer? (17032281)
2006
22
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer. (16944273)
2006
23
Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition. (17029639)
2006
24
Unfavorable pathological characteristics in familial colorectal cancer with low-level microsatellite instability. (16980941)
2006
25
Current approaches in familial colorectal cancer: a clinical perspective. (16569392)
2006
26
Somatic BRAF-V600E mutations in familial colorectal cancer. (17119056)
2006
27
The analysis for identifying large DNA fragment aberrations of MSH2 and MLH1 genes from familial colorectal cancer in China. (16331552)
2005
28
Evidence for BRAF mutation and variable levels of microsatellite instability in a syndrome of familial colorectal cancer. (15765445)
2005
29
Inflammatory bowel disease in Ashkenazi Jews: implications for familial colorectal cancer. (15516846)
2004
30
The role of hMLH3 in familial colorectal cancer. (12702580)
2003
31
Colonoscopy surveillance of individuals at risk of familial colorectal cancer. (14633955)
2003
32
Genetic analysis of familial colorectal cancer in Israeli Arabs. (12655564)
2003
33
Dynamics of genetic instability in sporadic and familial colorectal cancer. (12642695)
2002
34
I1307K Mutation Detection by Allele-Specific PCR in Familial Colorectal Cancer. (21318822)
2001
35
Germline mutation analysis of the transforming growth factor beta receptor type II (TGFBR2) and E-cadherin (CDH1) genes in early onset and familial colorectal cancer. (11158177)
2001
36
A systematic review and meta-analysis of familial colorectal cancer risk. (11693338)
2001
37
Genetic analysis of the APC gene regions involved in attenuated APC phenotype in Israeli patients with early onset and familial colorectal cancer. (11506490)
2001
38
Intron splice acceptor site polymorphism in the hMSH2 gene in sporadic and familial colorectal cancer. (10682661)
2000
39
Familial colorectal cancer: pathology and molecular characteristics. (11905639)
2000
40
Deficient DNA repair capacity: a predisposing factor and high risk predictive marker in familial colorectal cancer. (10374674)
1999
41
Evidence against genetic anticipation in familial colorectal cancer. (9271715)
1997
42
Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer. (8971183)
1996
43
Colonoscopy in relation to the evolving genetics of familial colorectal cancer. (7601034)
1995
44
Surgical prophylaxis of familial colon cancer: prevention of death from familial colorectal cancer. (8573449)
1995
45
Microsatellite instability in human colonic cancer is not a useful clinical indicator of familial colorectal cancer. (7498640)
1995
46
Clinical heterogeneity of familial colorectal cancer and its influence on screening protocols. (7959234)
1994
47
Clues to the pathogenesis of familial colorectal cancer. (8484121)
1993
48
Familial colorectal cancer: discussion paper. (1625266)
1992
49
Familial colorectal cancer and the screening of family members. (2909837)
1989
50
Familial colorectal cancer and hereditary brachydactyly. (6784851)
1981

Variations for Familial Colorectal Cancer

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Familial Colorectal Cancer:

1
id Gene Name Type Significance SNP ID Assembly Location
1TP53NM_000546.5(TP53): c.974G> T (p.Gly325Val)single nucleotide variantPathogenic, Uncertain significancers121912659GRCh37Chr 17, 7576872: 7576872
2TP53NM_000546.5(TP53): c.566C> T (p.Ala189Val)single nucleotide variantPathogenic, Uncertain significancers121912665GRCh37Chr 17, 7578283: 7578283
3MT-CO2m.8009G> Asingle nucleotide variantPathogenicrs199474826GRCh37Chr MT, 8009: 8009
4MT-CO1m.6264G> Asingle nucleotide variantPathogenicrs267606882GRCh37Chr MT, 6264: 6264
5MT-CO1m.6277G> Asingle nucleotide variantPathogenicGRCh37Chr MT, 6277: 6277
6MT-CYBm.14985G> Asingle nucleotide variantPathogenicrs207459995GRCh37Chr MT, 14985: 14985
7MT-CYBm.15572T> Csingle nucleotide variantPathogenicrs207459996GRCh37Chr MT, 15572: 15572
8MT-ND4Lm.10563T> Csingle nucleotide variantPathogenicrs267606892GRCh37Chr MT, 10563: 10563

Expression for genes affiliated with Familial Colorectal Cancer

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Colorectal Cancer

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

Pathways for genes affiliated with Familial Colorectal Cancer

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51PathCards, 56Reactome, 31KEGG
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Compounds for genes affiliated with Familial Colorectal Cancer

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46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Familial Colorectal Cancer according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
15-hydroxyuracil469.5SMUG1, NEIL1
2adenine46 25 1211.4MPG, MUTYH
38-oxoguanine469.1MPG, MUTYH, NEIL1
4pyrimidine46 2510.0MUTYH, MPG, SMUG1
5cytosine46 259.8SMUG1, MPG, NEIL1

GO Terms for genes affiliated with Familial Colorectal Cancer

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17Gene Ontology
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Biological processes related to Familial Colorectal Cancer according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1depurinationGO:0450079.1MUTYH, MPG
2DNA repairGO:0062819.0SMUG1, MPG, MUTYH
3base-excision repair, AP site formationGO:0062858.9SMUG1, MPG, MUTYH
4base-excision repairGO:0062848.6SMUG1, NEIL1, MUTYH, MPG

Molecular functions related to Familial Colorectal Cancer according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1damaged DNA bindingGO:0036849.5NEIL1, MPG
2DNA N-glycosylase activityGO:0191049.5NEIL1, SMUG1
3hydrolase activity, acting on glycosyl bondsGO:0167989.2NEIL1, MUTYH

Products for genes affiliated with Familial Colorectal Cancer

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Colorectal Cancer

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet