MCID: FML053
MIFTS: 44

Familial Colorectal Cancer

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

Aliases & Classifications for Familial Colorectal Cancer

MalaCards integrated aliases for Familial Colorectal Cancer:

Name: Familial Colorectal Cancer 49 28
Colorectal Cancer, Familial 49

Classifications:



Summaries for Familial Colorectal Cancer

NIH Rare Diseases : 49 Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered "hereditary" and is thought to be caused by an inherited predisposition to colon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC, MYH, MLH1, MSH2, MSH6, PMS2, EPCAM, PTEN, STK11, SMAD4, BMPR1A, NTHL1, POLE, and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle.High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories. Last updated: 4/26/2016

MalaCards based summary : Familial Colorectal Cancer, also known as colorectal cancer, familial, is related to colorectal adenoma and adenoma. An important gene associated with Familial Colorectal Cancer is GREM1 (Gremlin 1, DAN Family BMP Antagonist), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Endometrial cancer. The drug Cola has been mentioned in the context of this disorder. Affiliated tissues include colon and testes, and related phenotypes are cellular and homeostasis/metabolism

Related Diseases for Familial Colorectal Cancer

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 Familial Colorectal Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 colorectal adenoma 29.9 MLH1 MSH2 MUTYH TP53
2 adenoma 29.8 APC BRAF MLH1 MSH2 MUTYH TP53
3 polyposis syndrome, hereditary mixed, 1 29.8 APC GREM1 MLH1 MUTYH
4 lynch syndrome 29.6 APC BRAF MLH1 MSH2 MUTYH POLD1
5 familial adenomatous polyposis 28.8 APC CDH1 MLH1 MSH2 MUTYH PLA2G2A
6 colorectal cancer 28.2 APC BRAF CDH1 MLH1 MSH2 MT-CO1
7 familial colorectal cancer type x 12.2
8 appendix carcinoid tumor 10.6 MLH1 MSH2
9 adenosquamous colon carcinoma 10.6 MLH1 MSH2
10 polymerase proofreading-related adenomatous polyposis 10.5 POLD1 POLE
11 sebaceous adenoma 10.5 MLH1 MSH2
12 lower lip cancer 10.5 MLH1 MSH2
13 actinic cheilitis 10.5 MSH2 TP53
14 cerebral convexity meningioma 10.5 CDH1 TP53
15 attenuated familial adenomatous polyposis 10.4 APC MSH2 MUTYH
16 mismatch repair cancer syndrome 10.4 APC MLH1 MSH2
17 muir-torre syndrome 10.4 MLH1 MSH2 MUTYH
18 breast mucinous carcinoma 10.4 POLD1 POLE
19 anal fistula 10.4 MLH1 MSH2
20 nevus of ota 10.4 BRAF TP53
21 anal squamous cell carcinoma 10.4 APC MLH1 TP53
22 keratoacanthoma 10.4 MLH1 MSH2 TP53
23 cerebellar astrocytoma 10.4 BRAF TP53
24 hereditary breast ovarian cancer syndrome 10.4 MLH1 MSH2 TP53
25 cell type benign neoplasm 10.4 MLH1 MUTYH TP53
26 atypical polypoid adenomyoma 10.3 MLH1 MSH2
27 endocrine gland cancer 10.3 CDH1 MLH1 TP53
28 spitz nevus 10.3 BRAF TP53
29 lip cancer 10.3 BRAF MSH2 TP53
30 lynch syndrome i 10.3 MLH1 MSH2
31 autosomal genetic disease 10.2 MLH1 MSH2 MUTYH TP53
32 rectal neoplasm 10.2 MLH1 MSH2 MUTYH TP53
33 female reproductive organ cancer 10.2 CDH1 MLH1 MSH2 TP53
34 gastrointestinal system benign neoplasm 10.2 CDH1 MLH1 MUTYH TP53
35 bladder urothelial carcinoma 10.2 BRAF CDH1 TP53
36 reproductive organ cancer 10.2 CDH1 MLH1 MSH2 TP53
37 transitional cell carcinoma 10.2 CDH1 MSH2 TP53
38 gallbladder cancer 10.2 CDH1 MLH1 TP53
39 hyperplastic polyposis syndrome 10.2 APC BRAF MUTYH TP53
40 gastrointestinal system cancer 10.1 CDH1 MLH1 MSH2 MUTYH TP53
41 bartholin's gland benign neoplasm 10.1 SLC10A2 TP53
42 lung squamous cell carcinoma 10.0 BRAF CDH1 TP53
43 mutyh-associated polyposis 10.0 APC MT-CO2 MUTYH TP53
44 sparganosis 10.0 MT-CO1 MT-CYB
45 colorectal adenocarcinoma 10.0 BRAF CDH1 MLH1 MSH2 TP53
46 adenocarcinoma 10.0 BRAF CDH1 MLH1 MSH2 TP53
47 intestinal benign neoplasm 9.9 APC CDH1 MLH1 MSH2 MUTYH TP53
48 lice infestation 9.9 MT-CO1 MT-CYB
49 gastric cancer 9.9 APC CDH1 MLH1 MSH2 MUTYH TP53
50 leber optic atrophy 9.9 MT-CYB MT-ND4L

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



Diseases related to Familial Colorectal Cancer

Symptoms & Phenotypes for Familial Colorectal Cancer

MGI Mouse Phenotypes related to Familial Colorectal Cancer:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.23 GREM1 MLH1 MSH2 MT-CO1 MUTYH POLD1
2 homeostasis/metabolism MP:0005376 10.18 SMAD7 TP53 APC BRAF CDH1 EZH2
3 cardiovascular system MP:0005385 10.13 APC BRAF CDH1 EZH2 MT-CO1 POLD1
4 embryo MP:0005380 10.06 APC BRAF CDH1 EZH2 GREM1 POLD1
5 immune system MP:0005387 10.06 APC BRAF CDH1 EZH2 MSH2 MT-CO1
6 digestive/alimentary MP:0005381 10.03 APC BRAF CDH1 MLH1 MSH2 SLC10A2
7 mortality/aging MP:0010768 9.97 PTPRJ SMAD7 TP53 APC BRAF CDH1
8 integument MP:0010771 9.96 APC BRAF CDH1 EZH2 MLH1 MSH2
9 muscle MP:0005369 9.56 APC BRAF EZH2 MT-CO1 POLD1 PTPRJ
10 neoplasm MP:0002006 9.36 APC BRAF CDH1 EZH2 MLH1 MSH2

Drugs & Therapeutics for Familial Colorectal Cancer

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cola Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Implementation of Guidelines on Hereditary or Familial Colorectal Cancer Unknown status NCT00929097
2 Identifying Patients With Hereditary and Familial Colorectal Cancer by Using an Online Risk Tool Completed NCT02645084
3 Family Colorectal Cancer Awareness and Risk Education Project (Family CARE Project) Completed NCT01274143
4 Sequencing to Identify Gene Variants in Familial Colorectal Cancer Completed NCT01904630
5 Educational CD-ROM Compared With Standard Informed Consent for Patients With Colorectal Cancer or a Family History of Colorectal Cancer Completed NCT00450424
6 Familial Colorectal Cancer Registry in Hispanics Recruiting NCT00927680
7 Screening for Familial Colorectal Cancer (CRC) Patients Active, not recruiting NCT00632515

Search NIH Clinical Center for Familial Colorectal Cancer

Genetic Tests for Familial Colorectal Cancer

Genetic tests related to Familial Colorectal Cancer:

# Genetic test Affiliating Genes
1 Familial Colorectal Cancer 28

Anatomical Context for Familial Colorectal Cancer

MalaCards organs/tissues related to Familial Colorectal Cancer:

38
Colon, Testes

Publications for Familial Colorectal Cancer

Articles related to Familial Colorectal Cancer:

(show top 50) (show all 177)
# Title Authors Year
1
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis. ( 29448935 )
2018
2
Do alcoholic beverages, obesity and other nutritional factors modify the risk of familial colorectal cancer? A systematic review. ( 28927785 )
2017
3
Familial Colorectal Cancer Type X. ( 29081690 )
2017
4
Familial Colorectal Cancer Type X in Central Iran: A New Clinicopathologic Description. ( 28989591 )
2017
5
Differential expression of CK20, I^-catenin, and MUC2/5AC/6 in Lynch syndrome and familial colorectal cancer type X. ( 28824332 )
2017
6
Screening of BMPR1a for pathogenic mutations in familial colorectal cancer type X families from Newfoundland. ( 28660566 )
2017
7
Evaluation of an online family history tool for identifying hereditary and familial colorectal cancer. ( 28936633 )
2017
8
Colonoscopic surveillance - a cost-effective method to prevent hereditary and familial colorectal cancer. ( 28587529 )
2017
9
SETD6 dominant negative mutation in familial colorectal cancer type X. ( 28973356 )
2017
10
Accuracy of Colon Capsule Endoscopy in Detecting Colorectal Polyps in Individuals with Familial Colorectal Cancer: Could We Avoid Colonoscopies? ( 28265285 )
2017
11
Chromosome 19q13 disruption alters expressions of CYP2A7, MIA and MIA-RAB4B lncRNA and contributes to FAP-like phenotype in APC mutation-negative familial colorectal cancer patients. ( 28306719 )
2017
12
Intervention Mediators in a Randomized Controlled Trial to Increase Colonoscopy Uptake Among Individuals at Increased Risk of Familial Colorectal Cancer. ( 28236077 )
2017
13
Familial Colorectal Cancer Type X (FCCTX) and the correlation with various genes-A systematic review. ( 29096939 )
2017
14
Clinicopathological differences between familial colorectal cancer type X and sporadic cancer in an isolated area of spain. ( 27671100 )
2016
15
Familial Colorectal Cancer: Understanding the Alphabet Soup. ( 27582643 )
2016
16
Decentralized colonoscopic surveillance with high patient compliance prevents hereditary and familial colorectal cancer. ( 26935832 )
2016
17
Adenomas as a risk factor in familial colorectal cancer: implications for screening and surveillance in the UK. ( 27207111 )
2016
18
Gatekeeper role of gastroenterologists and surgeons in recognising and discussing familial colorectal cancer. ( 26687117 )
2016
19
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. ( 27356891 )
2016
20
Identification of familial colorectal cancer and hereditary colorectal cancer syndromes through the Dutch population-screening program: results ofa pilot study. ( 27310819 )
2016
21
Familial colorectal cancer: Patient assessment, surveillance and surgical management. ( 27546013 )
2016
22
Screening colonoscopy intervals in familial colorectal cancer. ( 28138582 )
2016
23
Evaluation of a Population Based Approach to Familial Colorectal Cancer. ( 27696385 )
2016
24
Familial colorectal cancer syndromes: an overview of clinical management. ( 25779305 )
2015
25
Hereditary and common familial colorectal cancer: evidence for colorectal screening. ( 25501924 )
2015
26
Methyltransferase expression and tumor suppressor gene methylation in sporadic and familial colorectal cancer. ( 26305882 )
2015
27
Familial colorectal cancer. ( 25955461 )
2015
28
Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. ( 26300997 )
2015
29
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance. ( 26133394 )
2015
30
GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer. ( 25992589 )
2015
31
Familial colorectal cancer risk may be lower than previously thought: A Danish cohort study. ( 26223561 )
2015
32
Randomized Comparison of Surveillance Intervals in Familial Colorectal Cancer. ( 26527788 )
2015
33
Survival in familial colorectal cancer: a Danish cohort study. ( 25963853 )
2015
34
Familial colorectal cancer screening: When and what to do? ( 26185367 )
2015
35
Familial colorectal cancer risk by subsite of primary cancer: a population-based study in Utah. ( 25604623 )
2015
36
Equivalency of Fecal Immunochemical Tests and Colonoscopy in Familial Colorectal Cancer Screening. ( 25127679 )
2014
37
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X. ( 25307848 )
2014
38
Exome sequencing in familial colorectal cancer: searching for needles in haystacks. ( 25075943 )
2014
39
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. ( 24501277 )
2014
40
Familial colorectal cancer type X: genetic profiles and phenotypic features. ( 24743215 )
2014
41
GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X. ( 24115450 )
2014
42
Familial colorectal cancer: a review. ( 25071323 )
2014
43
A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer. ( 23901040 )
2014
44
Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X. ( 25381643 )
2014
45
BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X. ( 24814045 )
2014
46
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. ( 25058500 )
2014
47
Comparison of clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients with colorectal cancer: a cross-sectional study conducted by the Japanese Society for Cancer of the Colon and Rectum. ( 25404568 )
2014
48
Characterisation of familial colorectal cancer Type X, Lynch syndrome, and non-familial colorectal cancer. ( 24918813 )
2014
49
Distinct gene expression signatures in lynch syndrome and familial colorectal cancer type x. ( 23951239 )
2013
50
Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer. ( 23245329 )
2013

Variations for Familial Colorectal Cancer

ClinVar genetic disease variations for Familial Colorectal Cancer:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-CO2 m.8009G> A single nucleotide variant Pathogenic rs199474826 GRCh37 Chromosome MT, 8009: 8009
2 MT-CO1 m.6264G> A single nucleotide variant Pathogenic rs267606882 GRCh37 Chromosome MT, 6264: 6264
3 MT-CO1 m.6277G> A single nucleotide variant Pathogenic rs281865417 GRCh37 Chromosome MT, 6277: 6277
4 MT-CO1 m.7275T> C single nucleotide variant Pathogenic rs267606884 GRCh37 Chromosome MT, 7275: 7275
5 MT-CYB m.14985G> A single nucleotide variant Pathogenic rs207459995 GRCh37 Chromosome MT, 14985: 14985
6 MT-CYB m.15572T> C single nucleotide variant Pathogenic rs207459996 GRCh37 Chromosome MT, 15572: 15572
7 MT-ND4L m.10563T> C single nucleotide variant Pathogenic rs267606892 GRCh37 Chromosome MT, 10563: 10563
8 PLA2G2A NM_000300.3(PLA2G2A): c.144_145delTG (p.Cys48Trpfs) deletion Pathogenic rs587776800 GRCh37 Chromosome 1, 20304913: 20304914
9 APC NM_000038.5(APC): c.190G> T (p.Gly64Ter) single nucleotide variant Pathogenic rs79323615 GRCh37 Chromosome 5, 112102077: 112102077
10 GREM1 NC_000015.10: g.(?_32679746)_(32712558_?)dup duplication Pathogenic GRCh37 Chromosome 15, 32971947: 33004759

Expression for Familial Colorectal Cancer

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

Pathways for Familial Colorectal Cancer

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

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 MLH1 MSH2 MUTYH POLD1 POLE TP53
2
Show member pathways
12.79 APC BRAF CDH1 MLH1 MSH2 TP53
3
Show member pathways
12.52 APC BRAF CDH1 MLH1 TP53
4 12.46 APC BRAF CDH1 MLH1 MSH2 TP53
5
Show member pathways
12.43 APC BRAF CDH1 PTPRJ TP53
6 12.33 MLH1 MSH2 MUTYH TP53
7 12.26 APC POLD1 POLE TP53
8 11.79 APC BRAF TP53
9 11.74 APC MLH1 MSH2 TP53
10 11.64 MT-CO1 MT-CO2 TP53
11 11.6 APC CDH1 MT-CO2
12 11.58 MT-CO1 MT-CO2 MT-CYB
13 11.54 BRAF CDH1 MSH2 SMAD7 TP53
14 11.53 BRAF CDH1 TP53
15 11.52 MLH1 MSH2 TP53
16
Show member pathways
11.45 MLH1 MSH2 POLD1 POLE
17 11.32 APC BRAF CDH1 MLH1 MSH2 TP53
18
Show member pathways
11.15 MLH1 MSH2 TP53

GO Terms for Familial Colorectal Cancer

Cellular components related to Familial Colorectal Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell adherens junction GO:0005913 9.5 APC CDH1 SMAD7
2 mitochondrial respiratory chain complex IV GO:0005751 9.4 MT-CO1 MT-CO2
3 mitochondrial respiratory chain complex III GO:0005750 9.37 MT-CO1 MT-CYB
4 mismatch repair complex GO:0032300 9.26 MLH1 MSH2
5 respiratory chain GO:0070469 9.26 MT-CO1 MT-CO2 MT-CYB MT-ND4L
6 respiratory chain complex IV GO:0045277 9.16 MT-CO1 MT-CO2
7 catenin complex GO:0016342 8.8 APC CDH1 SMAD7

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.85 MLH1 MSH2 MUTYH POLD1 POLE
2 hydrogen ion transmembrane transport GO:1902600 9.74 MT-CO1 MT-CO2 MT-CYB
3 response to hyperoxia GO:0055093 9.6 MT-CYB TP53
4 response to copper ion GO:0046688 9.59 MT-CO1 MT-CYB
5 somatic hypermutation of immunoglobulin genes GO:0016446 9.58 MLH1 MSH2
6 isotype switching GO:0045190 9.58 MLH1 MSH2
7 regulation of epithelial to mesenchymal transition GO:0010717 9.56 GREM1 SMAD7
8 determination of adult lifespan GO:0008340 9.55 MSH2 TP53
9 oxidative phosphorylation GO:0006119 9.54 MSH2 MT-CO1
10 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.52 GREM1 SMAD7
11 response to UV-B GO:0010224 9.51 MSH2 TP53
12 cellular response to DNA damage stimulus GO:0006974 9.5 APC MLH1 MSH2 MUTYH POLD1 POLE
13 positive regulation of isotype switching to IgG isotypes GO:0048304 9.49 MLH1 MSH2
14 ATP synthesis coupled electron transport GO:0042773 9.48 MT-CO2 MT-ND4L
15 positive regulation of isotype switching to IgA isotypes GO:0048298 9.43 MLH1 MSH2
16 somatic recombination of immunoglobulin gene segments GO:0016447 9.4 MLH1 MSH2
17 signal transduction by p53 class mediator GO:0072331 9.37 GREM1 TP53
18 base-excision repair, gap-filling GO:0006287 9.32 POLD1 POLE
19 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.26 MLH1 MSH2
20 DNA replication proofreading GO:0045004 9.16 POLD1 POLE
21 mismatch repair GO:0006298 8.92 MLH1 MSH2 MUTYH POLD1

Molecular functions related to Familial Colorectal Cancer according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.8 EZH2 MLH1 POLD1 POLE TP53
2 iron-sulfur cluster binding GO:0051536 9.63 MUTYH POLD1 POLE
3 damaged DNA binding GO:0003684 9.61 MSH2 POLD1 TP53
4 mismatched DNA binding GO:0030983 9.49 MLH1 MSH2
5 4 iron, 4 sulfur cluster binding GO:0051539 9.43 MUTYH POLD1 POLE
6 MutLalpha complex binding GO:0032405 9.37 MSH2 MUTYH
7 MutSalpha complex binding GO:0032407 9.32 MLH1 MUTYH
8 beta-catenin binding GO:0008013 9.26 APC CDH1 PTPRJ SMAD7
9 guanine/thymine mispair binding GO:0032137 9.16 MLH1 MSH2
10 gamma-catenin binding GO:0045295 8.8 APC CDH1 PTPRJ
11 metal ion binding GO:0046872 10.22 BRAF CDH1 MT-CO1 MT-CO2 MT-CYB MUTYH

Sources for Familial Colorectal Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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