MCID: FML053
MIFTS: 42

Familial Colorectal Cancer malady

Genetic diseases, Rare diseases, Cancer diseases, Gastrointestinal diseases categories
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Summaries for Familial Colorectal Cancer

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MalaCards based summary: 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 testes and colon, and related mouse phenotypes are tumorigenesis and homeostasis/metabolism.

Aliases & Classifications for Familial Colorectal Cancer

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Familial Colorectal Cancer, Aliases & Descriptions:

Name: Familial Colorectal Cancer 42
Colorectal Cancer, Familial 42 22
 
Hereditary Malignant Neoplasm 62


Classifications:



Related Diseases for Familial Colorectal Cancer

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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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Drug clinical trials:

Search ClinicalTrials for Familial Colorectal Cancer

Search NIH Clinical Center for Familial Colorectal Cancer

Genetic Tests for Familial Colorectal Cancer

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Genetic tests related to Familial Colorectal Cancer:

id Genetic test Affiliating Genes
1 Familial Colorectal Cancer22

Anatomical Context for Familial Colorectal Cancer

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MalaCards organs/tissues related to Familial Colorectal Cancer:

32
Testes, Colon

Animal Models for Familial Colorectal Cancer or affiliated genes

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MGI Mouse Phenotypes related to Familial Colorectal Cancer:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020067.6NEIL1, MUTYH, EPHB6, MPG, SMUG1
2MP:00053767.1MPG, EPHB6, MUTYH, NEIL1, SLC10A2, SMUG1

Publications for Familial Colorectal Cancer

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Articles related to Familial Colorectal Cancer:

(show top 50)    (show all 141)
idTitleAuthorsYear
1
Equivalency of Fecal Immunochemical Tests and Colonoscopy in Familial Colorectal Cancer Screening. (25127679)
2014
2
Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X. (25381643)
2014
3
GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X. (24115450)
2014
4
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. (24501277)
2014
5
Exome sequencing in familial colorectal cancer: searching for needles in haystacks. (25075943)
2014
6
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
7
Eleven candidate susceptibility genes for common familial colorectal cancer. (24146633)
2013
8
Familial colorectal cancer risk assessment needs improvement for more effective cancer prevention in relatives. (23451840)
2013
9
Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer. (23245329)
2013
10
Hereditary colorectal cancer diagnostics: morphological features of familial colorectal cancer type X versus Lynch syndrome. (22287689)
2012
11
Familial colorectal cancer type X: polyp burden and cancer risk stratification via a family history score. (22295380)
2011
12
High detection rate of adenomas in familial colorectal cancer. (20833659)
2011
13
Variants in the netrin-1 receptor UNC5C prevent apoptosis and increase risk of familial colorectal cancer. (21893118)
2011
14
Somatic mutations and germline sequence variants in patients with familial colorectal cancer. (21351276)
2010
15
Undefined familial colorectal cancer. (21160768)
2009
16
Implications of familial colorectal cancer risk profiles and microsatellite instability status. (19307499)
2009
17
CpG island methylation in familial colorectal cancer patients not fulfilling the Amsterdam criteria. (18437011)
2008
18
Sessile serrated polyps of the colorectum are rare in patients with Lynch syndrome and in familial colorectal cancer families. (17929199)
2008
19
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
20
Colonic adenoma risk in familial colorectal cancer--a study of six extended kindreds. (18671820)
2008
21
Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer. (17449901)
2007
22
MLH3 and EXO1 alterations in familial colorectal cancer patients not fulfilling Amsterdam criteria. (17656264)
2007
23
Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome. (16762622)
2006
24
Can quantification of faecal occult blood predetermine the need for colonoscopy in patients at risk for non-syndromic familial colorectal cancer? (17032281)
2006
25
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer. (16944273)
2006
26
Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition. (17029639)
2006
27
Unfavorable pathological characteristics in familial colorectal cancer with low-level microsatellite instability. (16980941)
2006
28
Current approaches in familial colorectal cancer: a clinical perspective. (16569392)
2006
29
Somatic BRAF-V600E mutations in familial colorectal cancer. (17119056)
2006
30
The analysis for identifying large DNA fragment aberrations of MSH2 and MLH1 genes from familial colorectal cancer in China. (16331552)
2005
31
Evidence for BRAF mutation and variable levels of microsatellite instability in a syndrome of familial colorectal cancer. (15765445)
2005
32
Inflammatory bowel disease in Ashkenazi Jews: implications for familial colorectal cancer. (15516846)
2004
33
The role of hMLH3 in familial colorectal cancer. (12702580)
2003
34
Colonoscopy surveillance of individuals at risk of familial colorectal cancer. (14633955)
2003
35
Genetic analysis of familial colorectal cancer in Israeli Arabs. (12655564)
2003
36
Dynamics of genetic instability in sporadic and familial colorectal cancer. (12642695)
2002
37
I1307K Mutation Detection by Allele-Specific PCR in Familial Colorectal Cancer. (21318822)
2001
38
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
39
A systematic review and meta-analysis of familial colorectal cancer risk. (11693338)
2001
40
Genetic analysis of the APC gene regions involved in attenuated APC phenotype in Israeli patients with early onset and familial colorectal cancer. (11506490)
2001
41
Intron splice acceptor site polymorphism in the hMSH2 gene in sporadic and familial colorectal cancer. (10682661)
2000
42
Familial colorectal cancer: pathology and molecular characteristics. (11905639)
2000
43
Evidence against genetic anticipation in familial colorectal cancer. (9271715)
1997
44
Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer. (8971183)
1996
45
Colonoscopy in relation to the evolving genetics of familial colorectal cancer. (7601034)
1995
46
Surgical prophylaxis of familial colon cancer: prevention of death from familial colorectal cancer. (8573449)
1995
47
Clinical heterogeneity of familial colorectal cancer and its influence on screening protocols. (7959234)
1994
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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Expression for genes affiliated with Familial Colorectal Cancer

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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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Compounds for genes affiliated with Familial Colorectal Cancer

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Familial Colorectal Cancer according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
15-hydroxyuracil449.5SMUG1, NEIL1
2adenine44 24 1111.4MUTYH, MPG
38-oxoguanine449.1NEIL1, MUTYH, MPG
4pyrimidine44 2410.0MUTYH, MPG, SMUG1
5cytosine44 249.8NEIL1, MPG, SMUG1

GO Terms for genes affiliated with Familial Colorectal Cancer

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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:0062819.0MUTYH, MPG, SMUG1
3base-excision repair, AP site formationGO:0062858.9SMUG1, MPG, MUTYH
4base-excision repairGO:0062848.6NEIL1, MUTYH, MPG, SMUG1

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

Sources for Familial Colorectal Cancer

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet