MCID: FML053
MIFTS: 47

Familial Colorectal Cancer

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

Aliases & Classifications for Familial Colorectal Cancer

MalaCards integrated aliases for Familial Colorectal Cancer:

Name: Familial Colorectal Cancer 20 29 6
Colorectal Cancer, Familial 20

Classifications:



Summaries for Familial Colorectal Cancer

GARD : 20 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.

MalaCards based summary : Familial Colorectal Cancer, also known as colorectal cancer, familial, is related to hereditary nonpolyposis colon cancer and adenoma. An important gene associated with Familial Colorectal Cancer is MUTYH (MutY DNA Glycosylase), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Regulation of TP53 Activity. 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 Increased shRNA abundance (Z-score > 2)

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 168)
# Related Disease Score Top Affiliating Genes
1 hereditary nonpolyposis colon cancer 31.5 MUTYH MSH2 MLH1
2 adenoma 30.8 TP53 TGFBR2 MUTYH MSH2 MLH1 CDH1
3 lynch syndrome 30.7 TP53 TGFBR2 SMAD7 POLE POLD1 MUTYH
4 familial adenomatous polyposis 30.6 TP53 PLA2G2A MUTYH MSH2 MLH1 CDH1
5 myh-associated polyposis 30.6 MUTYH MSH2 APC
6 attenuated familial adenomatous polyposis 30.5 POLE POLD1 MUTYH MSH2 APC
7 colorectal cancer 2 30.4 MSH2 MLH1
8 colorectal adenoma 30.4 TP53 MUTYH MSH2 MLH1 GREM1 CDH1
9 familial adenomatous polyposis 2 30.4 MUTYH MLH1 APC
10 hereditary breast ovarian cancer syndrome 30.2 TP53 MUTYH MSH2 MLH1 CHEK2
11 serrated polyposis syndrome 30.2 MUTYH GREM1 APC
12 endometrial cancer 30.2 TP53 TGFBR2 POLE MUTYH MSH2 MLH1
13 peutz-jeghers syndrome 30.2 TP53 TGFBR2 APC
14 muir-torre syndrome 30.2 TP53 MUTYH MSH2 MLH1
15 rectum cancer 30.2 MUTYH MSH2 MLH1 APC
16 colorectal adenocarcinoma 30.1 TP53 MSH2 MLH1 CDH1 APC
17 xeroderma pigmentosum, variant type 29.9 TP53 POLD1 MUTYH MSH2 MLH1 CHEK2
18 juvenile polyposis syndrome 29.9 POLD1 MUTYH MSH2 MLH1 GREM1 APC
19 hereditary mixed polyposis syndrome 29.9 POLE POLD1 MUTYH MSH2 MLH1 GREM1
20 cowden syndrome 29.7 TP53 POLE POLD1 MUTYH MSH2 MLH1
21 gastric cancer 29.4 TP53 TGFBR2 SMAD7 MUTYH MSH2 MLH1
22 inflammatory bowel disease 29.2 TP53 SMAD7 PLA2G2A MLH1 CDH1 APC
23 colorectal cancer 28.3 TP53 TGFBR2 SMAD7 POLE POLD1 PLA2G2A
24 familial colorectal cancer type x 11.4
25 inherited cancer-predisposing syndrome 10.5
26 tumor predisposition syndrome 10.5
27 cutaneous telangiectasia and cancer syndrome, familial 10.5
28 polymerase proofreading-related adenomatous polyposis 10.5 POLE POLD1
29 mismatch repair cancer syndrome 10.4 MSH2 MLH1
30 extrahepatic bile duct adenoma 10.4 MSH2 MLH1
31 renal pelvis transitional cell carcinoma 10.4 MSH2 MLH1
32 adenosquamous colon carcinoma 10.4 MSH2 MLH1
33 rectum signet ring adenocarcinoma 10.4 MSH2 MLH1
34 actinic cheilitis 10.4 TP53 MSH2
35 autosomal dominant non-syndromic intellectual disability 8 10.4 MSH2 MLH1
36 appendix carcinoid tumor 10.4 MSH2 MLH1
37 vulvar intraepithelial neoplasia 10.4 TP53 CDH1
38 sarcomatoid transitional cell carcinoma 10.4 TP53 CDH1
39 esophagus verrucous carcinoma 10.4 TP53 CDH1
40 jejunal adenocarcinoma 10.4 MUTYH MLH1
41 jejunal cancer 10.4 MUTYH MSH2 MLH1
42 rectosigmoid cancer 10.4 POLE POLD1 MUTYH
43 endometrioid ovary carcinoma 10.4 TP53 POLE MLH1
44 anal squamous cell carcinoma 10.4 TP53 MLH1 APC
45 sebaceous gland neoplasm 10.4 MUTYH MSH2 MLH1
46 mismatch repair cancer syndrome 1 10.4 MSH2 MLH1 APC
47 sebaceous adenoma 10.4 MUTYH MSH2 MLH1
48 intracranial meningioma 10.4 MSH2 MLH1
49 uterine body mixed cancer 10.4 TP53 POLE MLH1
50 villous adenoma 10.4 TP53 MLH1 APC

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:

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-1 9.68 CHEK2 MLH1 POLE
2 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.68 CHEK2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.68 CHEK2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.68 CHEK2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.68 CHEK2 POLE
6 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.68 MLH1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-142 9.68 CHEK2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.68 POLE
9 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.68 MLH1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.68 POLE
11 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.68 MLH1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.68 POLE
13 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.68 POLE
14 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.68 CHEK2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.68 POLE
16 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.68 MLH1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.68 CHEK2 POLE
18 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.68 POLE
19 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.68 POLE

MGI Mouse Phenotypes related to Familial Colorectal Cancer:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 APC CDH1 CHEK2 GREM1 MLH1 MSH2
2 homeostasis/metabolism MP:0005376 10.07 APC CDH1 CHEK2 GREM1 MLH1 MSH2
3 digestive/alimentary MP:0005381 10.02 APC CDH1 MLH1 MSH2 NR0B2 SLC10A2
4 endocrine/exocrine gland MP:0005379 9.97 APC CDH1 CHEK2 MLH1 NR0B2 POLD1
5 immune system MP:0005387 9.9 APC CDH1 CHEK2 MLH1 MSH2 MT-CO1
6 integument MP:0010771 9.61 APC CDH1 MLH1 MSH2 POLD1 POLE
7 neoplasm MP:0002006 9.32 APC CDH1 CHEK2 MLH1 MSH2 MUTYH

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 Impact of Remote Familial Colorectal Cancer Assessment and Counseling Completed NCT01274143
3 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
4 Familial Colorectal Cancer In Puerto Rico: A Feasibility Study Recruiting NCT00927680

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 29

Anatomical Context for Familial Colorectal Cancer

MalaCards organs/tissues related to Familial Colorectal Cancer:

40
Colon, Thyroid, Pancreas, Prostate

Publications for Familial Colorectal Cancer

Articles related to Familial Colorectal Cancer:

(show top 50) (show all 432)
# Title Authors PMID Year
1
GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer. 61 6
25992589 2015
2
GREM1 and POLE variants in hereditary colorectal cancer syndromes. 6
26493165 2016
3
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 6
25820570 2015
4
Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. 6
23108399 2013
5
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. 6
22561515 2012
6
A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase. 6
19218458 2009
7
Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis. 6
17949294 2007
8
Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission. 6
16407113 2006
9
Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas. 6
15890374 2005
10
A novel case with germline p53 gene mutation having concurrent multiple primary colon tumours. 6
12524418 2003
11
Somatic mutations of the mitochondrial genome in human colorectal tumours. 6
9806551 1998
12
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. 6
9272153 1997
13
Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. 6
1565144 1992
14
On the origin of cancer cells. 6
13298683 1956
15
Characteristics of colorectal carcinoma patients with PMS2 defects detected by immunohistochemistry. 61
32826709 2021
16
Familial Colorectal Cancer and Genetic Susceptibility: Colorectal Risk Variants in First-Degree Relatives of Patients With Colorectal Cancer. 61
33534415 2021
17
Single nucleotide variants c.-13G → C (rs17429833) and c.108C → T (rs72466472) in the CLDN1 gene and increased risk for familial colorectal cancer. 61
33186612 2021
18
Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer. 61
33673279 2021
19
Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population. 61
33191490 2020
20
FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor. 61
33118316 2020
21
BRIP1, a Gene Potentially Implicated in Familial Colorectal Cancer Type X. 61
33115781 2020
22
Poor Knowledge of Personal and Familial Colorectal Cancer Risk and Screening Recommendations Associated with Advanced Colorectal Polyps. 61
32144601 2020
23
Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction. 61
32424176 2020
24
Updates in the field of hereditary nonpolyposis colorectal cancer. 61
32755332 2020
25
Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer. 61
32615015 2020
26
The missing heritability of familial colorectal cancer. 61
31605533 2020
27
Incorporation of Multiple Sources into IT - and Data Protection Concepts: Lessons Learned from the FARKOR Project. 61
32570387 2020
28
Evaluating the effects of a risk-adapted screening program for familial colorectal cancer in individuals between 25 and 50 years of age: study protocol for the prospective population-based intervention study FARKOR. 61
32370777 2020
29
Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study. 61
32448342 2020
30
Broadening risk profile in familial colorectal cancer type X; increased risk for five cancer types in the national Danish cohort. 61
32321466 2020
31
Cystic Fibrosis, CFTR, and Colorectal Cancer. 61
32326161 2020
32
Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer. 61
31525256 2020
33
Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees. 61
32984025 2020
34
Novel candidates in early-onset familial colorectal cancer. 61
31555933 2020
35
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients. 61
33193653 2020
36
Diagnostic Yield of Colonoscopy in Young Adults with Lower Gastrointestinal Symptoms in a Multicenter Midwest Cohort. 61
32088711 2020
37
Effects of Family History on Relative and Absolute Risks for Colorectal Cancer: A Systematic Review and Meta-Analysis. 61
31525516 2019
38
Protein Cytl1: its role in chondrogenesis, cartilage homeostasis, and disease. 61
31089746 2019
39
Risks of Colorectal Cancer and Cancer-Related Mortality in Familial Colorectal Cancer Type X and Lynch Syndrome Families. 61
30380125 2019
40
Predictors of Response Outcomes for Research Recruitment Through a Central Cancer Registry: Evidence From 17 Recruitment Efforts for Population-Based Studies. 61
30689685 2019
41
Familial colorectal cancer risk in half siblings and siblings: nationwide cohort study. 61
30872356 2019
42
Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer. 61
30871259 2019
43
Investigation on the hereditary basis of colorectal cancers in an African population with frequent early onset cases. 61
31647837 2019
44
Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes. 61
29651783 2019
45
Impact of colonoscopic screening in Familial Colorectal Cancer Type X. 61
30300963 2018
46
A novel large germ line deletion in adenomatous polyposis coli (APC) gene associated with familial adenomatous polyposis. 61
30259713 2018
47
An online self-test added to colorectal cancer screening can increase the effectiveness of familial cancer risk assessment without increasing distress. 61
29956442 2018
48
Evaluation of an online family history tool for identifying hereditary and familial colorectal cancer. 61
28936633 2018
49
Translational Research in Familial Colorectal Cancer Syndromes. 61
29720902 2018
50
Recent progress in Lynch syndrome and other familial colorectal cancer syndromes. 61
29485237 2018

Variations for Familial Colorectal Cancer

ClinVar genetic disease variations for Familial Colorectal Cancer:

6 (show top 50) (show all 1036)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APC NM_000038.6(APC):c.834+3690G>T SNV other 82522 rs75762078 GRCh37: 5:112140770-112140770
GRCh38: 5:112805073-112805073
2 APC NM_000038.6(APC):c.834+3861T>C SNV other 82523 rs79627126 GRCh37: 5:112140941-112140941
GRCh38: 5:112805244-112805244
3 APC NM_000038.6(APC):c.834+4102G>T SNV other 82524 rs75016706 GRCh37: 5:112141182-112141182
GRCh38: 5:112805485-112805485
4 APC NM_000038.6(APC):c.834+4966C>G SNV other 82525 rs77288644 GRCh37: 5:112142046-112142046
GRCh38: 5:112806349-112806349
5 APC NM_000038.6(APC):c.834+5107C>A SNV other 82526 rs78366520 GRCh37: 5:112142187-112142187
GRCh38: 5:112806490-112806490
6 APC NM_000038.6(APC):c.834+5290G>C SNV other 82527 rs78296133 GRCh37: 5:112142370-112142370
GRCh38: 5:112806673-112806673
7 APC NM_000038.6(APC):c.834+5752G>A SNV other 82528 rs74947623 GRCh37: 5:112142832-112142832
GRCh38: 5:112807135-112807135
8 APC NM_000038.6(APC):c.834+5755A>G SNV other 82529 rs77111315 GRCh37: 5:112142835-112142835
GRCh38: 5:112807138-112807138
9 APC NM_000038.6(APC):c.834+5772T>A SNV other 82530 rs74848012 GRCh37: 5:112142852-112142852
GRCh38: 5:112807155-112807155
10 APC NM_000038.6(APC):c.834+6131A>T SNV other 82531 rs75729764 GRCh37: 5:112143211-112143211
GRCh38: 5:112807514-112807514
11 APC NM_000038.6(APC):c.834+6208C>G SNV other 82532 rs76825759 GRCh37: 5:112143288-112143288
GRCh38: 5:112807591-112807591
12 APC NM_000038.6(APC):c.834+6209T>G SNV other 82533 rs74778662 GRCh37: 5:112143289-112143289
GRCh38: 5:112807592-112807592
13 APC NM_000038.6(APC):c.834+6211G>T SNV other 82534 rs75658020 GRCh37: 5:112143291-112143291
GRCh38: 5:112807594-112807594
14 APC NM_000038.6(APC):c.834+6270G>A SNV other 82535 rs80261220 GRCh37: 5:112143350-112143350
GRCh38: 5:112807653-112807653
15 APC NM_000038.6(APC):c.834+6275A>C SNV other 82536 rs75341445 GRCh37: 5:112143355-112143355
GRCh38: 5:112807658-112807658
16 APC NM_000038.6(APC):c.834+6505C>G SNV other 82537 rs79818818 GRCh37: 5:112143585-112143585
GRCh38: 5:112807888-112807888
17 APC NM_000038.6(APC):c.834+6622A>T SNV other 82538 rs77302054 GRCh37: 5:112143702-112143702
GRCh38: 5:112808005-112808005
18 APC NM_000038.6(APC):c.834+6854C>A SNV other 82539 rs78184562 GRCh37: 5:112143934-112143934
GRCh38: 5:112808237-112808237
19 APC NM_000038.6(APC):c.835-6252A>C SNV other 82540 rs78427122 GRCh37: 5:112144940-112144940
GRCh38: 5:112809243-112809243
20 APC NM_000038.6(APC):c.835-5123C>T SNV other 82541 rs75781702 GRCh37: 5:112146069-112146069
GRCh38: 5:112810372-112810372
21 APC NM_000038.6(APC):c.835-4928C>T SNV other 82542 rs75495165 GRCh37: 5:112146264-112146264
GRCh38: 5:112810567-112810567
22 APC NM_000038.6(APC):c.835-4425A>C SNV other 82543 rs76601225 GRCh37: 5:112146767-112146767
GRCh38: 5:112811070-112811070
23 APC NM_000038.6(APC):c.835-4348T>G SNV other 82544 rs74748819 GRCh37: 5:112146844-112146844
GRCh38: 5:112811147-112811147
24 APC NM_000038.6(APC):c.835-4342A>G SNV other 82545 rs79721140 GRCh37: 5:112146850-112146850
GRCh38: 5:112811153-112811153
25 APC NM_000038.6(APC):c.835-3533T>A SNV other 82546 rs77203577 GRCh37: 5:112147659-112147659
GRCh38: 5:112811962-112811962
26 APC NM_000038.6(APC):c.835-3531G>T SNV other 82547 rs78088180 GRCh37: 5:112147661-112147661
GRCh38: 5:112811964-112811964
27 APC NM_000038.6(APC):c.835-3022T>C SNV other 82548 rs76177466 GRCh37: 5:112148170-112148170
GRCh38: 5:112812473-112812473
28 APC NM_000038.6(APC):c.835-1830C>T SNV other 82549 rs77977086 GRCh37: 5:112149362-112149362
GRCh38: 5:112813665-112813665
29 APC NM_000038.6(APC):c.835-1827G>C SNV other 82550 rs79039159 GRCh37: 5:112149365-112149365
GRCh38: 5:112813668-112813668
30 APC NM_000038.6(APC):c.835-1816A>G SNV other 82551 rs79687866 GRCh37: 5:112149376-112149376
GRCh38: 5:112813679-112813679
31 APC NM_000038.6(APC):c.835-1654T>C SNV other 82552 rs78071534 GRCh37: 5:112149538-112149538
GRCh38: 5:112813841-112813841
32 APC NM_000038.6(APC):c.835-1028A>C SNV other 82553 rs79113455 GRCh37: 5:112150164-112150164
GRCh38: 5:112814467-112814467
33 APC NM_000038.6(APC):c.835-1026T>C SNV other 82554 rs76735805 GRCh37: 5:112150166-112150166
GRCh38: 5:112814469-112814469
34 APC NM_000038.6(APC):c.835-630T>C SNV other 82555 rs74346093 GRCh37: 5:112150562-112150562
GRCh38: 5:112814865-112814865
35 APC NM_000038.6(APC):c.933+79A>C SNV other 82556 rs75280663 GRCh37: 5:112151369-112151369
GRCh38: 5:112815672-112815672
36 APC NM_000038.6(APC):c.933+81A>C SNV other 82557 rs76528895 GRCh37: 5:112151371-112151371
GRCh38: 5:112815674-112815674
37 APC NM_000038.6(APC):c.933+277A>C SNV other 82558 rs74531281 GRCh37: 5:112151567-112151567
GRCh38: 5:112815870-112815870
38 APC NM_000038.6(APC):c.933+517T>C SNV other 82559 rs75985408 GRCh37: 5:112151807-112151807
GRCh38: 5:112816110-112816110
39 APC NM_000038.6(APC):c.933+916T>G SNV other 82560 rs17134960 GRCh37: 5:112152206-112152206
GRCh38: 5:112816509-112816509
40 APC NM_000038.6(APC):c.933+939A>C SNV other 82561 rs77670822 GRCh37: 5:112152229-112152229
GRCh38: 5:112816532-112816532
41 APC NM_000038.6(APC):c.933+1353G>C SNV other 82562 rs79631752 GRCh37: 5:112152643-112152643
GRCh38: 5:112816946-112816946
42 APC NM_000038.6(APC):c.933+1540G>A SNV other 82563 rs78924999 GRCh37: 5:112152830-112152830
GRCh38: 5:112817133-112817133
43 APC NM_000038.6(APC):c.934-515A>T SNV other 82564 rs74509144 GRCh37: 5:112154148-112154148
GRCh38: 5:112818451-112818451
44 APC NM_000038.6(APC):c.934-123T>G SNV other 82565 rs79163044 GRCh37: 5:112154540-112154540
GRCh38: 5:112818843-112818843
45 APC NM_000038.6(APC):c.934-122T>G SNV other 82566 rs77766408 GRCh37: 5:112154541-112154541
GRCh38: 5:112818844-112818844
46 APC NM_000038.6(APC):c.934-120G>C SNV other 82567 rs78526198 GRCh37: 5:112154543-112154543
GRCh38: 5:112818846-112818846
47 APC NM_000038.6(APC):c.1312+352C>T SNV other 82568 rs79764746 GRCh37: 5:112155393-112155393
GRCh38: 5:112819696-112819696
48 APC NM_000038.6(APC):c.1312+1042A>C SNV other 82569 rs75014659 GRCh37: 5:112156083-112156083
GRCh38: 5:112820386-112820386
49 APC NM_000038.6(APC):c.1312+1056A>C SNV other 82570 rs76044691 GRCh37: 5:112156097-112156097
GRCh38: 5:112820400-112820400
50 APC NM_000038.6(APC):c.1312+1059A>C SNV other 82571 rs75435442 GRCh37: 5:112156100-112156100
GRCh38: 5:112820403-112820403

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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 TP53 POLE POLD1 MUTYH MSH2 MLH1
2
Show member pathways
12.84 TP53 MT-CO2 MT-CO1 MSH2 MLH1 CHEK2
3
Show member pathways
12.72 TP53 MT-ND4L MT-CYB MT-CO2 MT-CO1
4
Show member pathways
12.63 TP53 TGFBR2 MLH1 CDH1 APC
5
Show member pathways
12.59 TP53 TGFBR2 MSH2 MLH1 CDH1 APC
6
Show member pathways
12.56 TP53 POLE POLD1 MSH2 CHEK2
7 12.46 TP53 TGFBR2 MSH2 MLH1 CDH1 APC
8 12.24 TP53 CHEK2 CDH1 APC
9 12.19 TP53 MUTYH MSH2 MLH1 CHEK2
10 11.99 TGFBR2 SMAD7 CDH1 APC
11 11.83 TP53 MSH2 MLH1 APC
12 11.77 TGFBR2 SMAD7 GREM1
13 11.73 MT-CYB MT-CO2 MT-CO1
14 11.72 TP53 MT-CO2 MT-CO1
15
Show member pathways
11.69 TP53 MSH2 CHEK2
16 11.67 MT-CO2 CDH1 APC
17 11.65 TP53 TGFBR2 MSH2 MLH1 CDH1 APC
18 11.62 TP53 MSH2 MLH1
19
Show member pathways
11.43 POLE POLD1 MSH2 MLH1
20 11.36 TP53 MSH2 CHEK2
21
Show member pathways
11.3 MSH2 MLH1 CHEK2
22 11.29 TP53 TGFBR2 SMAD7 MSH2 CHEK2 CDH1
23 11.27 POLE POLD1 CHEK2
24
Show member pathways
11.21 TP53 MSH2 MLH1
25 10.24 TP53 CHEK2

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 nucleoplasm GO:0005654 9.9 TP53 SMAD7 POLE POLD1 NUDC NR0B2
2 mitochondrial respiratory chain complex III GO:0005750 9.37 MT-CYB MT-CO1
3 mismatch repair complex GO:0032300 9.32 MSH2 MLH1
4 respiratory chain complex IV GO:0045277 9.26 MT-CO2 MT-CO1
5 catenin complex GO:0016342 9.13 SMAD7 CDH1 APC
6 respiratory chain 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 24)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.74 TP53 TGFBR2 SMAD7
2 double-strand break repair GO:0006302 9.72 TP53 MSH2 CHEK2
3 DNA repair GO:0006281 9.63 POLE POLD1 MUTYH MSH2 MLH1 CHEK2
4 isotype switching GO:0045190 9.62 MSH2 MLH1
5 somatic hypermutation of immunoglobulin genes GO:0016446 9.61 MSH2 MLH1
6 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.61 TP53 CHEK2
7 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.61 MSH2 MLH1 CHEK2
8 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.6 SMAD7 GREM1
9 pathway-restricted SMAD protein phosphorylation GO:0060389 9.59 TGFBR2 SMAD7
10 regulation of epithelial to mesenchymal transition GO:0010717 9.58 SMAD7 GREM1
11 DNA synthesis involved in DNA repair GO:0000731 9.58 POLE POLD1
12 animal organ regeneration GO:0031100 9.58 TGFBR2 NR0B2 MT-CYB
13 positive regulation of isotype switching to IgG isotypes GO:0048304 9.56 MSH2 MLH1
14 ATP synthesis coupled electron transport GO:0042773 9.54 MT-ND4L MT-CO2
15 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.54 TP53 MSH2 CHEK2
16 base-excision repair, gap-filling GO:0006287 9.52 POLE POLD1
17 signal transduction by p53 class mediator GO:0072331 9.51 TP53 GREM1
18 positive regulation of isotype switching to IgA isotypes GO:0048298 9.49 MSH2 MLH1
19 somatic recombination of immunoglobulin gene segments GO:0016447 9.48 MSH2 MLH1
20 electron transport coupled proton transport GO:0015990 9.46 MT-CYB MT-CO1
21 DNA replication proofreading GO:0045004 9.32 POLE POLD1
22 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.26 MSH2 MLH1
23 mismatch repair GO:0006298 9.26 POLD1 MUTYH MSH2 MLH1
24 cellular response to DNA damage stimulus GO:0006974 9.23 TP53 POLE POLD1 MUTYH MSH2 MLH1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.83 TP53 POLE POLD1 MSH2 MLH1
2 beta-catenin binding GO:0008013 9.67 SMAD7 CDH1 APC
3 iron-sulfur cluster binding GO:0051536 9.58 POLE POLD1 MUTYH
4 activin binding GO:0048185 9.52 TGFBR2 SMAD7
5 gamma-catenin binding GO:0045295 9.51 CDH1 APC
6 mismatched DNA binding GO:0030983 9.48 MSH2 MLH1
7 type I transforming growth factor beta receptor binding GO:0034713 9.46 TGFBR2 SMAD7
8 metal ion binding GO:0046872 9.4 TP53 TGFBR2 SMAD7 POLE POLD1 PLA2G2A
9 MutSalpha complex binding GO:0032407 9.37 MUTYH MLH1
10 4 iron, 4 sulfur cluster binding GO:0051539 9.33 POLE POLD1 MUTYH
11 MutLalpha complex binding GO:0032405 9.32 MUTYH MSH2
12 oxidized purine DNA binding GO:0032357 9.26 MUTYH MSH2
13 guanine/thymine mispair binding GO:0032137 8.96 MSH2 MLH1

Sources for Familial Colorectal Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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