MCID: FML053
MIFTS: 47

Familial Colorectal Cancer malady

Cancer, Genetic categories

Summaries for Familial Colorectal Cancer

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33MalaCards
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MalaCards: Familial Colorectal Cancer, also known as colorectal cancer, familial, is related to colorectal cancer and adenoma. An important gene associated with Familial Colorectal Cancer is ARL11 (ADP-ribosylation factor-like 11), and among its related pathways are Fluoropyrimidine Pathway, Pharmacodynamics and Lagging Strand Synthesis. The compounds 5-hydroxymethyluracil and af/ap have been mentioned in the context of this disorder. Affiliated tissues include colon and breast, and related mouse phenotypes are tumorigenesis and hematopoietic system.

Aliases & Classifications for Familial Colorectal Cancer

Sources:
43NIH Rare Diseases, 22GTR, 61UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

familial colorectal cancer 43
colorectal cancer, familial 43 22
hereditary malignant neoplasm 61


Related Diseases for Familial Colorectal Cancer

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the colorectal cancer family:

familial colorectal cancer colorectal cancer with chromosomal instability
colorectal cancer 6 colorectal cancer 2
colorectal cancer 1 colorectal cancer 5
colorectal cancer 7 colorectal cancer 12
colorectal cancer 8 colorectal cancer 4
colorectal cancer 9 colorectal cancer 3
colorectal cancer 10 colorectal cancer 11

Diseases related to Familial Colorectal Cancer via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer31.7PMS1, TIMP3, APC, BAK1, MUTYH, MSH2
2adenoma30.7TIMP3, APC, BAK1, MUTYH, MSH2
3colorectal cancer, somatic30.3MLH3, APC
4peutz-jeghers syndrome30.1APC, PMS1
5familial adenomatous polyposis30.1PMS1, APC, MUTYH, MSH2
6colorectal cancer 110.2
7brachydactyly10.1
8mandibular cancer10.1
9gastrointestinal adenoma10.1
10n syndrome10.1
11juvenile polyposis syndrome10.1
12peutz–jeghers syndrome10.1
13micro syndrome10.1
14young syndrome10.1
15colorectal cancer 710.1
16colorectal cancer 1210.1
17colorectal cancer 310.1
18colorectal cancer 1110.1
19familial prostate cancer10.1
20stomach cancer, familial10.1
21gastric cancer risk after h. pylori infection10.1
22muir-torre syndrome10.0MSH2
23multiple sclerosis10.0TIMP3
24stomach cancer10.0MUTYH, APC
25leukemia10.0MSH2, BAK1
26esophageal cancer10.0SMUG1
27rectum cancer10.0MSH2, MUTYH, APC
28glioblastoma multiforme10.0TIMP3, UNG, BAK1
29gastric cancer, somatic10.0MUTYH, APC
30pancreatic cancer10.0BAK1, MSH2, SMUG1, SMAD7
31lynch syndrome10.0MSH2, PMS1
32cervical cancer10.0TIMP3, BAK1, MSH2, SMUG1
33cholangiocarcinoma10.0TIMP3
34adenocarcinoma10.0TIMP3, APC, BAK1, MSH2, SMAD7
35melanoma10.0PMS1, TIMP3, BAK1, EPHB6, MSH2, SMUG1
36ovarian cancer10.0PMS1, TIMP3, MPG, MSH2, SMUG1, SMAD7
37prostate cancer10.0PMS1, TIMP3, APC, BAK1, MSH2, SMAD7
38turcot syndrome10.0PMS1, APC
39thyroid cancer10.0TIMP3, APC, BAK1
40lung cancer10.0UNG, MPG, BAK1, MUTYH, SMAD7, TDG
41malignant glioma10.0PMS1, TIMP3, UNG, MPG, BAK1, SMAD7
42colon cancer10.0PMS1, TIMP3, APC, UNG, BAK1, MUTYH
43squamous cell carcinoma10.0PMS1, TIMP3, APC, BAK1, MSH2, SMAD7
44breast cancer10.0PMS1, TIMP3, APC, MPG, BAK1, MSH2
45hepatocellular carcinoma10.0TIMP3, APC, BAK1, MUTYH, SMAD7
46gallbladder cancer10.0APC
47burkitt's lymphoma10.0PMS1, BAK1, MSH2, SMUG1, SMAD7

Graphical network of the top 20 diseases related to Familial Colorectal Cancer:



Diseases related to familial colorectal cancer

Clinical Features for Familial Colorectal Cancer

Drugs & Therapeutics for Familial Colorectal Cancer

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Familial Colorectal Cancer:

33
Colon, Breast

Animal Models for Familial Colorectal Cancer or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Familial Colorectal Cancer:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000200610.2PMS1, UNG, EPHB6, MSH2
2MP:00053979.8SMAD7, MSH2, APC, EPHB6, TIMP3, MPG
3MP:00053849.5MUTYH, TDG, TIMP3, APC, UNG, MPG
4MP:00053769.5EPHB6, SLC10A2, MSH2, SMUG1, SMAD7, TDG
5MP:00053879.5SMAD7, MSH2, EPHB6, BAK1, TIMP3, UNG

Publications for Familial Colorectal Cancer

Sources:
51PubMed
See all sources

Articles related to Familial Colorectal Cancer:

(show top 50)    (show all 180)
idTitleAuthorsYear
1
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). (24310308)
2014
2
Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer. (23245329)
2013
3
Quality of life after surgery in individuals with familial colorectal cancer: does extended surgery have an adverse impact? (23924343)
2013
4
Ovarian metastases of colorectal and duodenal cancer in familial adenomatous polyposis. (22941256)
2012
5
Hereditary colorectal cancer diagnostics: morphological features of familial colorectal cancer type X versus Lynch syndrome. (22287689)
2012
6
Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X. (22522846)
2012
7
High detection rate of adenomas in familial colorectal cancer. (20833659)
2011
8
Variants in the netrin-1 receptor UNC5C prevent apoptosis and increase risk of familial colorectal cancer. (21893118)
2011
9
Somatic mutations and germline sequence variants in patients with familial colorectal cancer. (21351276)
2010
10
Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. (20522427)
2010
11
Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility. (20610541)
2010
12
Low-penetrance susceptibility variants in familial colorectal cancer. (20501757)
2010
13
The impact of screening and genetic registration on mortality and colorectal cancer incidence in familial adenomatous polyposis. (20660077)
2010
14
Low frequency of Lynch syndrome among young patients with non-familial colorectal cancer. (20655395)
2010
15
Familial colorectal cancer type X: the other half of hereditary nonpolyposis colon cancer syndrome. (19793571)
2009
16
Familial colorectal cancer, can it be identified by microsatellite instability and chromosomal instability? - A case-control study. (19729829)
2009
17
TGFBR1 variants TGFBR1(*)6A and Int7G24A are not associated with an increased familial colorectal cancer risk. (19401691)
2009
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
Germline EPHB2 receptor variants in familial colorectal cancer. (18682749)
2008
22
Contribution of common monoallelic MUTYH gene variants in German patients with familial colorectal cancer. (18503156)
2008
23
Association of familial colorectal cancer with variants in the E-cadherin (CDH1) and cyclin D1 (CCND1) genes. (17960397)
2008
24
Familial colorectal cancer: a genetics treasure trove for medical discovery. (18523226)
2008
25
MYH-associated polyposis--a new familial colorectal cancer syndrome without a family history. (19098972)
2008
26
Familial colorectal cancer referral to regional genetics department--a single centre experience. (17160434)
2007
27
Very high incidence of familial colorectal cancer in Newfoundland: a comparison with Ontario and 13 other population-based studies. (17039269)
2007
28
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer. (16944273)
2006
29
Preferential amplification of AURKA 91A (Ile31) in familial colorectal cancers. (16049965)
2006
30
Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome? (15837969)
2005
31
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. (15855431)
2005
32
Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue. (14974087)
2004
33
Prevalence and incidence of hyperplastic polyps and adenomas in familial colorectal cancer: correlation between the two types of colon polyps. (12865272)
2003
34
Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer. (11896626)
2002
35
Analysis of mismatch repair defects in the familial occurrence of lymphoma and colorectal cancer. (12400605)
2002
36
Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome. (12221036)
2002
37
Mutational analysis of the hMSH6 gene in familial and early-onset colorectal and endometrial cancer in Israeli patients. (12537658)
2002
38
I1307K Mutation Detection by Allele-Specific PCR in Familial Colorectal Cancer. (21318822)
2001
39
Microsatellite Instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer. (11304573)
2001
40
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
41
Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer. (11668620)
2001
42
hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer. (12132870)
2001
43
Intron splice acceptor site polymorphism in the hMSH2 gene in sporadic and familial colorectal cancer. (10682661)
2000
44
Cancer worries, risk perceptions and associations with interest in DNA testing and clinic satisfaction in a familial colorectal cancer clinic. (11149615)
2000
45
A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. (9823339)
1998
46
The APC gene I1307K variant is rare in Norwegian patients with familial and sporadic colorectal or breast cancer. (9679946)
1998
47
Molecular genetic analysis of exons 1 to 6 of the APC gene in non-polyposis familial colorectal cancer. (8835324)
1995
48
Suggested screening guidelines for familial colorectal cancer. (7497146)
1995
49
Familial colorectal cancer: discussion paper. (1625266)
1992
50
Familial colorectal cancer and hereditary brachydactyly. (6784851)
1981

Genetic Variations for Familial Colorectal Cancer

Expression for genes affiliated with Familial Colorectal Cancer

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
50PharmGKB, 54Reactome, 38NCBI BioSystems Database, 52QIAGEN, 30KEGG
See all sources

Compounds for genes affiliated with Familial Colorectal Cancer

Sources:
45Novoseek, 60Tocris Bioscience, 24HMDB, 11DrugBank, 50PharmGKB
See all sources

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

(show all 24)
idCompoundScoreTop Affiliating Genes
15-hydroxymethyluracil4510.6SMUG1, UNG
2af/ap4510.6MUTYH, APC
35-formyluracil4510.6SMUG1, UNG
45-hydroxyuracil4510.6SMUG1, NEIL1, UNG
53,n(4)-ethenocytosine4510.6TDG, MPG
6mnng4510.6APC, MPG, MSH2
78-oxoguanine4510.5APC, MPG, NEIL1, MUTYH
83-methyladenine45 60 2412.5MPG, UNG
9thymine45 2411.5APC, UNG, TDG
10o6-methylguanine4510.5TIMP3, APC, MPG, MSH2
11pyrimidine45 2411.5MPG, MUTYH, SMUG1
12oligodeoxyribonucleotides4510.5MPG, UNG
13sodium bisulfite4510.4APC, UNG
14guanine45 11 2412.4TDG, MUTYH, MPG, UNG, APC
15mononucleotide4510.4APC, MSH2
16cytosine45 2411.4TDG, SMUG1, NEIL1, MPG, UNG, APC
17adenine45 11 2412.4APC, UNG, MPG, MUTYH, MSH2, TDG
185fluorouracil4510.3TDG, MSH2, BAK1, UNG
19cisplatin45 50 60 1113.3UNG, MPG, BAK1, MSH2, SMAD7
205-methylcytosine45 2411.3TDG, APC
21oligonucleotide4510.3TIMP3, APC, UNG, MPG, NEIL1, SMAD7
22chlorambucil45 1111.2BAK1, MPG
23paraffin4510.1TIMP3, APC, BAK1, MSH2
24polynucleotide4510.0NEIL1, UNG

GO Terms for genes affiliated with Familial Colorectal Cancer

Sources:
16Gene Ontology
See all sources

Cellular components related to Familial Colorectal Cancer according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mismatch repair complexGO:03230010.0MLH3, PMS1
2nucleusGO:0056349.6PMS1, APC, UNG, MLH3, NEIL2, NEIL1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1depurinationGO:04500710.4MUTYH, MPG
2base-excision repair, AP site formationGO:00628510.3TDG, SMUG1, MUTYH, MPG
3depyrimidinationGO:04500810.3SMUG1, TDG
4negative regulation of peptidyl-serine phosphorylationGO:03313710.3SMAD7, BAK1
5mismatch repairGO:00629810.3PMS1, MLH3, MUTYH, MSH2, TDG
6somatic recombination of immunoglobulin gene segmentsGO:01644710.2UNG, MSH2
7base-excision repairGO:00628410.2TDG, SMUG1, MUTYH, NEIL1, NEIL2, MPG
8DNA repairGO:00628110.1UNG, MPG, MUTYH, MSH2, SMUG1, TDG
9somatic hypermutation of immunoglobulin genesGO:01644610.0MSH2, UNG

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1uracil DNA N-glycosylase activityGO:00484410.5UNG, SMUG1
2DNA N-glycosylase activityGO:01910410.5TDG, SMUG1, NEIL1
3MutSalpha complex bindingGO:03240710.4MUTYH, MLH3, PMS1
4centromeric DNA bindingGO:01923710.4MSH2, MLH3
5MutLalpha complex bindingGO:03240510.4MSH2, MUTYH
6mismatched DNA bindingGO:03098310.4TDG, MSH2, MLH3, PMS1
7damaged DNA bindingGO:00368410.4MPG, NEIL2, NEIL1, TDG
8hydrolase activity, acting on glycosyl bondsGO:01679810.3MUTYH, NEIL1
9single-stranded DNA bindingGO:00369710.2PMS1, MLH3, MSH2
10ATPase activityGO:01688710.2MSH2, MLH3, PMS1
11DNA-(apurinic or apyrimidinic site) lyase activityGO:00390610.0NEIL1, NEIL2

Products for genes affiliated with Familial Colorectal Cancer

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Colorectal Cancer

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet