MCID: FML053
MIFTS: 45

Familial Colorectal Cancer

Categories: Blood diseases, Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Familial Colorectal Cancer

MalaCards integrated aliases for Familial Colorectal Cancer:

Name: Familial Colorectal Cancer 19 75 28 5
Colorectal Cancer, Familial 19

Classifications:



Summaries for Familial Colorectal Cancer

GARD: 19 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 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 genetic change 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.

MalaCards based summary: Familial Colorectal Cancer, also known as colorectal cancer, familial, is related to lynch syndrome 1 and mismatch repair cancer syndrome 1. An important gene associated with Familial Colorectal Cancer is MUTYH (MutY DNA Glycosylase), and among its related pathways/superpathways are TCR Signaling (Qiagen) and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drug Cola has been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and pancreas, and related phenotypes are Increased shRNA abundance (Z-score > 2) and neoplasm

Wikipedia: 75 Colorectal cancer (CRC), also known as bowel cancer, colon cancer, or rectal cancer, is the development... more...

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 201)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome 1 31.0 MSH2 MLH1
2 mismatch repair cancer syndrome 1 30.7 MSH2 MLH1
3 myh-associated polyposis 30.5 MUTYH MSH2
4 inherited cancer-predisposing syndrome 30.3 TP53 MUTYH MSH2 MLH1
5 bap1 tumor predisposition syndrome 30.3 TP53 MUTYH MSH2 MLH1
6 lynch syndrome 30.2 TP53 TGFBR2 MUTYH MSH2 MLH1 GREM1
7 familial adenomatous polyposis 2 30.1 MUTYH MSH2 MLH1 GREM1
8 adenoma 30.0 TP53 TGFBR2 MUTYH MSH2 MLH1
9 familial adenomatous polyposis 30.0 TP53 PLA2G2A MUTYH MSH2 MLH1
10 juvenile polyposis syndrome 30.0 MUTYH MSH2 MLH1 GREM1
11 mismatch repair cancer syndrome 29.9 TP53 MUTYH MSH2 MLH1
12 colorectal adenoma 29.9 TP53 MUTYH MSH2 MLH1 GREM1
13 hereditary mixed polyposis syndrome 29.7 MUTYH MSH2 MLH1 GREM1
14 colonic benign neoplasm 29.7 TP53 TGFBR2 MUTYH MSH2 MLH1
15 desmoid tumor 29.6 TP53 MUTYH MSH2
16 rectum cancer 29.6 TP53 MUTYH MSH2 MLH1
17 rectal benign neoplasm 29.5 TP53 MSH2 MLH1
18 colorectal adenocarcinoma 29.5 TP53 MSH2 MLH1
19 oligodendroglioma 29.4 TP53 MSH2 MLH1
20 fanconi anemia, complementation group a 29.4 TP53 MUTYH MSH2 MLH1
21 muir-torre syndrome 29.3 TP53 MUTYH MSH2 MLH1
22 intestinal benign neoplasm 29.3 TP53 MUTYH MSH2 MLH1
23 hereditary breast ovarian cancer syndrome 29.3 TP53 MUTYH MSH2 MLH1 GREM1
24 endometrial cancer 29.3 TP53 TGFBR2 MUTYH MSH2 MLH1
25 xeroderma pigmentosum, variant type 29.3 TP53 MUTYH MSH2 MLH1
26 cowden syndrome 29.1 TP53 MUTYH MSH2 MLH1 GREM1
27 familial colorectal cancer type x 11.5
28 colorectal cancer 10.9
29 turner syndrome 10.4
30 familial adenomatous polyposis 1 10.3
31 extrahepatic bile duct adenoma 10.2 MSH2 MLH1
32 adenosquamous colon carcinoma 10.2 MSH2 MLH1
33 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
34 rectum signet ring adenocarcinoma 10.2 MSH2 MLH1
35 gastrointestinal adenoma 10.2 MUTYH MLH1
36 descending colon cancer 10.2 MSH2 MLH1
37 appendix carcinoid tumor 10.2 MSH2 MLH1
38 ascending colon cancer 10.2 MSH2 MLH1
39 renal pelvis carcinoma 10.2 MSH2 MLH1
40 medullary colon carcinoma 10.2 MSH2 MLH1
41 lynch syndrome 5 10.2 MSH2 MLH1
42 autosomal dominant intellectual developmental disorder 8 10.2 MSH2 MLH1
43 coloboma of optic nerve 10.2
44 ceroid lipofuscinosis, neuronal, 5 10.2
45 retinal melanoma 10.2 MSH2 MLH1
46 dysplastic nevus syndrome 10.2 MSH2 MLH1
47 baylisascariasis 10.2 MT-CO2 MT-CO1
48 lentigines 10.1 MSH2 MLH1
49 isolated cytochrome c oxidase deficiency 10.1 MT-CO2 MT-CO1
50 pediculus humanus capitis infestation 10.1 MT-CYB MT-CO1

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



Diseases related to Familial Colorectal Cancer

Symptoms & Phenotypes for Familial Colorectal Cancer

GenomeRNAi Phenotypes related to Familial Colorectal Cancer according to GeneCards Suite gene sharing:

25 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.75 PLA2G2A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.75 TGFBR2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.75 TGFBR2 TP53
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.75 TP53
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.75 TGFBR2 TP53
6 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.75 TGFBR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.75 TGFBR2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.75 TGFBR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.75 TP53
10 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.75 TP53
11 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.75 TGFBR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.75 TGFBR2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.75 TP53
14 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.75 TP53
15 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.75 TP53
16 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.75 PLA2G2A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.75 TP53
18 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.75 TGFBR2 TP53
19 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.75 TGFBR2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.75 TGFBR2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-61 9.75 PLA2G2A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-62 9.75 TP53
23 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.75 TGFBR2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.75 PLA2G2A

MGI Mouse Phenotypes related to Familial Colorectal Cancer:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.1 MLH1 MSH2 MUTYH PLA2G2A TGFBR2 TP53

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Implementation of Guidelines on Hereditary or Familial Colorectal Cancer Risk Calculation and Risk Communication Unknown status NCT00929097
2 Identifying the Risk of Hereditary and Familial Colorectal Cancer in Colorectal Cancer Patients by Using an Online Risk Tool: An Evaluation Based on a Stepped Wedge Design Completed NCT02645084
3 Impact of Remote Familial Colorectal Cancer Assessment and Counseling Completed NCT01274143
4 Familial Colorectal Cancer In Puerto Rico: A Feasibility Study Recruiting NCT00927680
5 Direct Information to At-risk Relatives - a Randomized Controlled Multicentre Trial of Healthcare-assisted Versus Family-mediated Disclosure of Hereditary Cancer Risk Information in High-risk Families in Sweden Enrolling by invitation NCT04197856

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

Organs/tissues related to Familial Colorectal Cancer:

MalaCards : Colon, Thyroid, Pancreas, Prostate, Breast

Publications for Familial Colorectal Cancer

Articles related to Familial Colorectal Cancer:

(show top 50) (show all 463)
# Title Authors PMID Year
1
GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer. 62 5
25992589 2015
2
Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 62 5
18534194 2008
3
Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations. 5
26947005 2016
4
GREM1 and POLE variants in hereditary colorectal cancer syndromes. 5
26493165 2016
5
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 5
25820570 2015
6
Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. 5
24444654 2014
7
Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. 5
23108399 2013
8
MUTYH Polyposis 5
23035301 2012
9
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. 5
22561515 2012
10
Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. 5
21171015 2011
11
MUTYH-associated polyposis (MAP). 5
20663686 2011
12
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 5
20848659 2010
13
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 5
19732775 2009
14
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 5
19394335 2009
15
A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase. 5
19218458 2009
16
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. 5
17489848 2007
17
Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients. 5
17219385 2007
18
Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis. 5
17949294 2007
19
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 5
16557584 2006
20
Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission. 5
16407113 2006
21
Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair. 5
15987719 2005
22
Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas. 5
15890374 2005
23
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). 5
16140997 2005
24
Germline susceptibility to colorectal cancer due to base-excision repair gene defects. 5
15931596 2005
25
A novel case with germline p53 gene mutation having concurrent multiple primary colon tumours. 5
12524418 2003
26
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 5
11818965 2002
27
Somatic mutations of the mitochondrial genome in human colorectal tumours. 5
9806551 1998
28
Loss of the PLA2G2A gene in a sporadic colorectal tumor of a patient with a PLA2G2A germline mutation and absence of PLA2G2A germline alterations in patients with FAP. 5
9272153 1997
29
Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. 5
1565144 1992
30
On the origin of cancer cells. 5
13298683 1956
31
The Roles of MTRR and MTHFR Gene Polymorphisms in Colorectal Cancer Survival. 62
36364857 2022
32
Familial component of early-onset colorectal cancer: opportunity for prevention. 62
36108087 2022
33
Association between Dietary Fiber Intake and Mortality among Colorectal Cancer Survivors: Results from the Newfoundland Familial Colorectal Cancer Cohort Study and a Meta-Analysis of Prospective Studies. 62
35954465 2022
34
Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes? 62
34637023 2022
35
Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer. 62
35562597 2022
36
Familial colorectal cancer. 62
35988967 2022
37
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD. 62
35283344 2022
38
Uptake and Short-term Outcomes of High-risk Screening Colonoscopy Billing Codes: A Population-based Study Among Young Adults. 62
35368324 2022
39
New insights on familial colorectal cancer type X syndrome. 62
35181726 2022
40
Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer. 62
35158942 2022
41
Mapping psychosocial interventions in familial colorectal cancer: a rapid systematic review. 62
34980016 2022
42
Adenoma and colorectal cancer risks in Lynch syndrome, Lynch-like syndrome and familial colorectal cancer type X. 62
34469588 2022
43
Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer. 62
35163215 2022
44
Germline mutations in a DNA repair pathway are associated with familial colorectal cancer. 62
34549727 2021
45
Characteristics of colorectal carcinoma patients with PMS2 defects detected by immunohistochemistry. 62
32826709 2021
46
A Novel Low-Risk Germline Variant in the SH2 Domain of the SRC Gene Affects Multiple Pathways in Familial Colorectal Cancer. 62
33916261 2021
47
Single nucleotide variants c.-13G → C (rs17429833) and c.108C → T (rs72466472) in the CLDN1 gene and increased risk for familial colorectal cancer. 62
33186612 2021
48
BRIP1, a Gene Potentially Implicated in Familial Colorectal Cancer Type X. 62
33115781 2021
49
Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer. 62
33673279 2021
50
Familial Colorectal Cancer and Genetic Susceptibility: Colorectal Risk Variants in First-Degree Relatives of Patients With Colorectal Cancer. 62
33534415 2021

Variations for Familial Colorectal Cancer

ClinVar genetic disease variations for Familial Colorectal Cancer:

5 (show top 50) (show all 1053)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APC NM_000038.6(APC):c.645+5003A>T SNV Other
82454 rs76009673 GRCh37: 5:112121603-112121603
GRCh38: 5:112785906-112785906
2 APC NM_000038.6(APC):c.645+5030A>G SNV Other
82455 rs74436805 GRCh37: 5:112121630-112121630
GRCh38: 5:112785933-112785933
3 APC NM_000038.6(APC):c.645+5134C>A SNV Other
82456 rs74873706 GRCh37: 5:112121734-112121734
GRCh38: 5:112786037-112786037
4 APC NM_000038.6(APC):c.645+5220G>T SNV Other
82457 rs75919833 GRCh37: 5:112121820-112121820
GRCh38: 5:112786123-112786123
5 APC NM_000038.6(APC):c.645+5236A>C SNV Other
82458 rs74807701 GRCh37: 5:112121836-112121836
GRCh38: 5:112786139-112786139
6 APC NM_000038.6(APC):c.645+5391T>G SNV Other
82459 rs79365209 GRCh37: 5:112121991-112121991
GRCh38: 5:112786294-112786294
7 APC NM_000038.6(APC):c.646-5277T>G SNV Other
82460 rs78434833 GRCh37: 5:112122866-112122866
GRCh38: 5:112787169-112787169
8 APC NM_000038.6(APC):c.646-4989T>C SNV Other
82461 rs79164048 GRCh37: 5:112123154-112123154
GRCh38: 5:112787457-112787457
9 APC NM_000038.6(APC):c.646-4968C>A SNV Other
82462 rs77760414 GRCh37: 5:112123175-112123175
GRCh38: 5:112787478-112787478
10 APC NM_000038.6(APC):c.646-4504G>T SNV Other
82463 rs78520440 GRCh37: 5:112123639-112123639
GRCh38: 5:112787942-112787942
11 APC NM_000038.6(APC):c.646-4308T>G SNV Other
82464 rs80013682 GRCh37: 5:112123835-112123835
GRCh38: 5:112788138-112788138
12 APC NM_000038.6(APC):c.646-4302A>C SNV Other
82465 rs74983697 GRCh37: 5:112123841-112123841
GRCh38: 5:112788144-112788144
13 APC NM_000038.6(APC):c.646-4019C>A SNV Other
82466 rs79759582 GRCh37: 5:112124124-112124124
GRCh38: 5:112788427-112788427
14 APC NM_000038.6(APC):c.646-3605C>T SNV Other
82467 rs75085438 GRCh37: 5:112124538-112124538
GRCh38: 5:112788841-112788841
15 APC NM_000038.6(APC):c.646-3277T>C SNV Other
82468 rs75751638 GRCh37: 5:112124866-112124866
GRCh38: 5:112789169-112789169
16 APC NM_000038.6(APC):c.646-3193C>A SNV Other
82469 rs76711494 GRCh37: 5:112124950-112124950
GRCh38: 5:112789253-112789253
17 APC NM_000038.6(APC):c.646-2890T>C SNV Other
82470 rs76574046 GRCh37: 5:112125253-112125253
GRCh38: 5:112789556-112789556
18 APC NM_000038.6(APC):c.646-2481T>C SNV Other
82471 rs77271824 GRCh37: 5:112125662-112125662
GRCh38: 5:112789965-112789965
19 APC NM_000038.6(APC):c.646-1836T>G SNV Other
82472 rs78367110 GRCh37: 5:112126307-112126307
GRCh38: 5:112790610-112790610
20 APC NM_000038.6(APC):c.646-1599T>G SNV Other
82473 rs78300949 GRCh37: 5:112126544-112126544
GRCh38: 5:112790847-112790847
21 APC NM_000038.6(APC):c.646-966C>G SNV Other
82474 rs77050639 GRCh37: 5:112127177-112127177
GRCh38: 5:112791480-112791480
22 APC NM_000038.6(APC):c.646-847T>C SNV Other
82475 rs77916048 GRCh37: 5:112127296-112127296
GRCh38: 5:112791599-112791599
23 APC NM_000038.6(APC):c.646-431A>C SNV Other
82476 rs76248317 GRCh37: 5:112127712-112127712
GRCh38: 5:112792015-112792015
24 APC NM_000038.6(APC):c.646-86G>T SNV Other
82477 rs80121748 GRCh37: 5:112128057-112128057
GRCh38: 5:112792360-112792360
25 APC NM_000038.6(APC):c.646-76G>T SNV Other
82478 rs75719476 GRCh37: 5:112128067-112128067
GRCh38: 5:112792370-112792370
26 APC NM_000038.6(APC):c.729+23T>G SNV Other
82479 rs75111475 GRCh37: 5:112128249-112128249
GRCh38: 5:112792552-112792552
27 APC NM_000038.6(APC):c.729+88T>C SNV Other
82480 rs79627325 GRCh37: 5:112128314-112128314
GRCh38: 5:112792617-112792617
28 APC NM_000038.6(APC):c.729+447A>G SNV Other
82481 rs75248404 GRCh37: 5:112128673-112128673
GRCh38: 5:112792976-112792976
29 APC NM_000038.6(APC):c.729+964A>C SNV Other
82482 rs78406999 GRCh37: 5:112129190-112129190
GRCh38: 5:112793493-112793493
30 APC NM_000038.6(APC):c.729+970A>T SNV Other
82483 rs79631489 GRCh37: 5:112129196-112129196
GRCh38: 5:112793499-112793499
31 APC NM_000038.6(APC):c.729+1527A>G SNV Other
82484 rs78185081 GRCh37: 5:112129753-112129753
GRCh38: 5:112794056-112794056
32 APC NM_000038.6(APC):c.729+1530T>A SNV Other
82485 rs77524587 GRCh37: 5:112129756-112129756
GRCh38: 5:112794059-112794059
33 APC NM_000038.6(APC):c.729+1618C>A SNV Other
82486 rs76053499 GRCh37: 5:112129844-112129844
GRCh38: 5:112794147-112794147
34 APC NM_000038.6(APC):c.729+1672T>C SNV Other
82487 rs79860051 GRCh37: 5:112129898-112129898
GRCh38: 5:112794201-112794201
35 APC NM_000038.6(APC):c.729+1829G>C SNV Other
82488 rs74622593 GRCh37: 5:112130055-112130055
GRCh38: 5:112794358-112794358
36 APC NM_000038.6(APC):c.729+2040T>C SNV Other
82489 rs75485063 GRCh37: 5:112130266-112130266
GRCh38: 5:112794569-112794569
37 APC NM_000038.6(APC):c.729+2184T>C SNV Other
82490 rs76600947 GRCh37: 5:112130410-112130410
GRCh38: 5:112794713-112794713
38 APC NM_000038.6(APC):c.729+2218T>C SNV Other
82491 rs74749425 GRCh37: 5:112130444-112130444
GRCh38: 5:112794747-112794747
39 APC NM_000038.6(APC):c.729+2258T>C SNV Other
82492 rs80220815 GRCh37: 5:112130484-112130484
GRCh38: 5:112794787-112794787
40 APC NM_000038.6(APC):c.729+2619T>G SNV Other
82493 rs75074935 GRCh37: 5:112130845-112130845
GRCh38: 5:112795148-112795148
41 APC NM_000038.6(APC):c.729+2781G>C SNV Other
82494 rs79487788 GRCh37: 5:112131007-112131007
GRCh38: 5:112795310-112795310
42 APC NM_000038.6(APC):c.729+2876T>C SNV Other
82495 rs79404714 GRCh37: 5:112131102-112131102
GRCh38: 5:112795405-112795405
43 APC NM_000038.6(APC):c.729+3619G>A SNV Other
82496 rs79688003 GRCh37: 5:112131845-112131845
GRCh38: 5:112796148-112796148
44 APC NM_000038.6(APC):c.730-4028A>G SNV Other
82497 rs76804542 GRCh37: 5:112132948-112132948
GRCh38: 5:112797251-112797251
45 APC NM_000038.6(APC):c.730-3290A>C SNV Other
82498 rs77463678 GRCh37: 5:112133686-112133686
GRCh38: 5:112797989-112797989
46 APC NM_000038.6(APC):c.730-3130C>A SNV Other
82499 rs75948898 GRCh37: 5:112133846-112133846
GRCh38: 5:112798149-112798149
47 APC NM_000038.6(APC):c.730-3103C>A SNV Other
82500 rs76045097 GRCh37: 5:112133873-112133873
GRCh38: 5:112798176-112798176
48 APC NM_000038.6(APC):c.730-2871A>G SNV Other
82501 rs74345810 GRCh37: 5:112134105-112134105
GRCh38: 5:112798408-112798408
49 APC NM_000038.6(APC):c.730-2731A>G SNV Other
82502 rs75280772 GRCh37: 5:112134245-112134245
GRCh38: 5:112798548-112798548
50 APC NM_000038.6(APC):c.730-2463T>G SNV Other
82503 rs76529910 GRCh37: 5:112134513-112134513
GRCh38: 5:112798816-112798816

Cosmic variations for Familial Colorectal Cancer:

8 (show all 44)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87804055 KRAS large intestine,colon,other,ulcerative colitis c.35G>T p.G12V 12:25245350-25245350 4
2 COSM87804005 KRAS large intestine,colon,other,ulcerative colitis c.35G>A p.G12D 12:25245350-25245350 4
3 COSM134990112 KRAS large intestine,colon,other,ulcerative colitis c.35G>A p.G12D 12:25245350-25245350 4
4 COSM134990158 KRAS large intestine,colon,other,ulcerative colitis c.35G>T p.G12V 12:25245350-25245350 4
5 COSM134990131 KRAS large intestine,colon,other,ulcerative colitis c.38G>A p.G13D 12:25245347-25245347 4
6 COSM134615012 KRAS large intestine,colon,other,ulcerative colitis c.34G>T p.G12C 12:25245351-25245351 4
7 COSM134614922 KRAS large intestine,colon,other,ulcerative colitis c.35G>A p.G12D 12:25245350-25245350 4
8 COSM91859716 KRAS large intestine,colon,other,ulcerative colitis c.35G>A p.G12D 12:25245350-25245350 4
9 COSM87811077 KRAS large intestine,colon,other,ulcerative colitis c.37G>A p.G13S 12:25245348-25245348 4
10 COSM134990190 KRAS large intestine,colon,other,ulcerative colitis c.34G>T p.G12C 12:25245351-25245351 4
11 COSM134614978 KRAS large intestine,colon,other,ulcerative colitis c.35G>T p.G12V 12:25245350-25245350 4
12 COSM134995752 KRAS large intestine,colon,other,ulcerative colitis c.37G>A p.G13S 12:25245348-25245348 4
13 COSM91859771 KRAS large intestine,colon,other,ulcerative colitis c.34G>T p.G12C 12:25245351-25245351 4
14 COSM87804028 KRAS large intestine,colon,other,ulcerative colitis c.38G>A p.G13D 12:25245347-25245347 4
15 COSM91865142 KRAS large intestine,colon,other,ulcerative colitis c.37G>A p.G13S 12:25245348-25245348 4
16 COSM91859752 KRAS large intestine,colon,other,ulcerative colitis c.35G>T p.G12V 12:25245350-25245350 4
17 COSM134614942 KRAS large intestine,colon,other,ulcerative colitis c.38G>A p.G13D 12:25245347-25245347 4
18 COSM134622234 KRAS large intestine,colon,other,ulcerative colitis c.37G>A p.G13S 12:25245348-25245348 4
19 COSM87804075 KRAS large intestine,colon,other,ulcerative colitis c.34G>T p.G12C 12:25245351-25245351 4
20 COSM91859734 KRAS large intestine,colon,other,ulcerative colitis c.38G>A p.G13D 12:25245347-25245347 4
21 COSM112254813 TP53 large intestine,rectum,other,ulcerative colitis c.991C>T p.Q331* 17:7673537-7673537 3
22 COSM144087932 TP53 large intestine,rectum,other,ulcerative colitis c.514C>T p.Q172* 17:7673537-7673537 3
23 COSM144014702 TP53 large intestine,rectum,other,ulcerative colitis c.958C>T p.Q320* 17:7673537-7673537 3
24 COSM122735329 TP53 large intestine,rectum,other,ulcerative colitis c.595C>T p.Q199* 17:7673537-7673537 3
25 COSM142561421 TP53 large intestine,rectum,other,ulcerative colitis c.874C>T p.Q292* 17:7673537-7673537 3
26 COSM143372079 TP53 large intestine,rectum,other,ulcerative colitis c.874C>T p.Q292* 17:7673537-7673537 3
27 COSM144311322 TP53 large intestine,rectum,other,ulcerative colitis c.874C>T p.Q292* 17:7673537-7673537 3
28 COSM87899785 TP53 large intestine,rectum,other,ulcerative colitis c.991C>T p.Q331* 17:7673537-7673537 3
29 COSM122272916 TP53 large intestine,rectum,other,ulcerative colitis c.595C>T p.Q199* 17:7673537-7673537 3
30 COSM121877930 TP53 large intestine,rectum,other,ulcerative colitis c.595C>T p.Q199* 17:7673537-7673537 3
31 COSM105621819 TP53 large intestine,rectum,other,ulcerative colitis c.782+644C>T p.? 17:7673537-7673537 3
32 COSM144652581 TP53 large intestine,rectum,other,ulcerative colitis c.874C>T p.Q292* 17:7673537-7673537 3
33 COSM145019112 TP53 large intestine,rectum,other,ulcerative colitis c.874C>T p.Q292* 17:7673537-7673537 3
34 COSM111759749 TP53 large intestine,rectum,other,ulcerative colitis c.991C>T p.Q331* 17:7673537-7673537 3
35 COSM106054584 TP53 large intestine,rectum,other,ulcerative colitis c.991C>T p.Q331* 17:7673537-7673537 3
36 COSM142838247 TP53 large intestine,rectum,other,ulcerative colitis c.991C>T p.Q331* 17:7673537-7673537 3
37 COSM93184982 TP53 large intestine,rectum,other,ulcerative colitis c.991C>T p.Q331* 17:7673537-7673537 3
38 COSM143158051 TP53 large intestine,rectum,other,ulcerative colitis c.514C>T p.Q172* 17:7673537-7673537 3
39 COSM143945088 TP53 large intestine,rectum,other,ulcerative colitis c.514C>T p.Q172* 17:7673537-7673537 3
40 COSM103099638 SMAD4 large intestine,rectum,other,ulcerative colitis c.1546C>T p.Q516* 18:51078354-51078354 3
41 COSM139783160 SMAD4 large intestine,rectum,other,ulcerative colitis c.1258C>T p.Q420* 18:51078354-51078354 3
42 COSM91397295 SMAD4 large intestine,rectum,other,ulcerative colitis c.1546C>T p.Q516* 18:51078354-51078354 3
43 COSM122380143 APC large intestine,colon,other,Crohn disease c.3386T>C p.L1129S 5:112838980-112838980 3
44 COSM88864376 APC large intestine,colon,other,Crohn disease c.3386T>C p.L1129S 5:112838980-112838980 3

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.61 TP53 PLA2G2A MSH2 MLH1
2
Show member pathways
12.57 MT-ND4L MT-CYB MT-CO2 MT-CO1
3
Show member pathways
12.36 TP53 MT-CO2 MT-CO1 MSH2 MLH1
4
Show member pathways
12.33 MLH1 MSH2 TGFBR2 TP53
5
Show member pathways
12.14 MUTYH MSH2 MLH1
6 12.03 TP53 MUTYH MSH2 MLH1
7 11.83 TP53 TGFBR2 MSH2
8 11.72 TP53 MSH2 MLH1
9 11.48 TP53 MT-CO2 MT-CO1
10 11.41 TP53 MSH2 MLH1
11 11.14 TP53 TGFBR2 MSH2 MLH1
12 11.13 TP53 MSH2
13 10.99 MSH2 MLH1
14 10.77 TGFBR2 PLA2G2A
15
Show member pathways
10.73 TP53 MSH2 MLH1
16 10.69 TGFBR2 GREM1

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 mitochondrion GO:0005739 9.9 TP53 PLA2G2A MUTYH MT-ND4L MT-CYB MT-CO2
2 mitochondrial respiratory chain complex III GO:0005750 9.62 MT-CYB MT-CO1
3 respiratory chain complex IV GO:0045277 9.56 MT-CO2 MT-CO1
4 mismatch repair complex GO:0032300 9.13 MSH2 MLH1
5 respirasome GO:0070469 8.92 MT-ND4L MT-CYB MT-CO2 MT-CO1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 9.92 MT-CYB MT-CO2 MT-CO1
2 determination of adult lifespan GO:0008340 9.81 TP53 MSH2
3 response to X-ray GO:0010165 9.8 TP53 MSH2
4 isotype switching GO:0045190 9.78 MSH2 MLH1
5 somatic hypermutation of immunoglobulin genes GO:0016446 9.76 MSH2 MLH1
6 positive regulation of isotype switching to IgG isotypes GO:0048304 9.73 MSH2 MLH1
7 respiratory electron transport chain GO:0022904 9.71 MT-CYB MT-CO1
8 positive regulation of isotype switching to IgA isotypes GO:0048298 9.71 MLH1 MSH2
9 cellular respiration GO:0045333 9.63 MT-CYB MT-CO2 MT-CO1
10 signal transduction by p53 class mediator GO:0072331 9.54 GREM1 TP53
11 ATP synthesis coupled electron transport GO:0042773 9.5 MT-ND4L MT-CO2
12 somatic recombination of immunoglobulin gene segments GO:0016447 9.43 MSH2 MLH1
13 mismatch repair GO:0006298 9.43 MUTYH MSH2 MLH1
14 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 8.8 MSH2 MLH1

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

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent DNA damage sensor activity GO:0140664 9.71 MSH2 MLH1
2 cytochrome-c oxidase activity GO:0004129 9.67 MT-CO2 MT-CO1
3 MutSalpha complex binding GO:0032407 9.56 MUTYH MLH1
4 mismatched DNA binding GO:0030983 9.5 MSH2 MLH1
5 MutLalpha complex binding GO:0032405 9.33 MUTYH MSH2
6 oxidized purine DNA binding GO:0032357 9.26 MUTYH MSH2
7 guanine/thymine mispair binding GO:0032137 8.92 MSH2 MLH1

Sources for Familial Colorectal Cancer

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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