Familial Colorectal Cancer disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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:

MalaCards categories:
Global: Rare diseases Cancer diseases Genetic diseases
Anatomical: Gastrointestinal diseases Blood diseases

See all MalaCards categories (disease lists)

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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...

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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:

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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

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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
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

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Genetic Tests for Familial Colorectal Cancer

Genetic tests related to Familial Colorectal Cancer:

#	Genetic test	Affiliating Genes
1	Familial Colorectal Cancer ²⁸

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Anatomical Context for Familial Colorectal Cancer

Organs/tissues related to Familial Colorectal Cancer:

MalaCards : Colon, Thyroid, Pancreas, Prostate, Breast

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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	Laitman Y...Friedman E	25992589	2015
2	Characterization of mutant MUTYH proteins associated with familial colorectal cancer. ⁶² ⁵	Ali M...Bristow R	18534194	2008
3	Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations. ⁵	Ziai J...Bale AE	26947005	2016
4	GREM1 and POLE variants in hereditary colorectal cancer syndromes. ⁵	Rohlin A...Nordling M	26493165	2016
5	Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. ⁵	Komine K...Ishioka C	25820570	2015
6	Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. ⁵	Win AK...Jenkins MA	24444654	2014
7	Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. ⁵	Ruggieri V...Bignami M	23108399	2013
8	MUTYH Polyposis ⁵	Nielsen M...Brand R	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	Jaeger E...Tomlinson I	22561515	2012
10	Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. ⁵	Win AK...Jenkins MA	21171015	2011
11	MUTYH-associated polyposis (MAP). ⁵	Nielsen M...Hes FJ	20663686	2011
12	Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. ⁵	Goto M...Sugimura H	20848659	2010
13	Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. ⁵	Vogt S...Aretz S	19732775	2009
14	Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. ⁵	Jones N...Sampson JR	19394335	2009
15	A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase. ⁵	Namslauer I...Brzezinski P	19218458	2009
16	Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. ⁵	Nielsen M...Vasen HF	17489848	2007
17	Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients. ⁵	Croitoru ME...Gallinger S	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	Olschwang S...Thomas G	17949294	2007
19	MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. ⁵	Aretz S...Friedl W	16557584	2006
20	Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission. ⁵	Greaves LC...McDonald SA	16407113	2006
21	Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair. ⁵	Parker AR...Eshleman JR	15987719	2005
22	Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas. ⁵	Miyaki M...Mori T	15890374	2005
23	Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). ⁵	Nielsen M...Hes FJ	16140997	2005
24	Germline susceptibility to colorectal cancer due to base-excision repair gene defects. ⁵	Farrington SM...Dunlop MG	15931596	2005
25	A novel case with germline p53 gene mutation having concurrent multiple primary colon tumours. ⁵	Miyaki M...Mori T	12524418	2003
26	Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. ⁵	Al-Tassan N...Cheadle JP	11818965	2002
27	Somatic mutations of the mitochondrial genome in human colorectal tumours. ⁵	Polyak K...Vogelstein B	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	Nimmrich I...Muller O	9272153	1997
29	Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. ⁵	Malkin D...Garber J	1565144	1992
30	On the origin of cancer cells. ⁵	WARBURG O	13298683	1956
31	The Roles of MTRR and MTHFR Gene Polymorphisms in Colorectal Cancer Survival. ⁶²	Wang Y...Zhu Y	36364857	2022
32	Familial component of early-onset colorectal cancer: opportunity for prevention. ⁶²	Daca-Alvarez M...GEOCODE and SECOC consortia	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	Zhao J...Wang PP	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	Jensen JM...Sunde L	34637023	2022
35	Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer. ⁶²	Skopelitou D...Reddy Bandapalli O	35562597	2022
36	Familial colorectal cancer. ⁶²	Mangas-Sanjuan C...Jover R	35988967	2022
37	Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD. ⁶²	Sommer AK...Aretz S	35283344	2022
38	Uptake and Short-term Outcomes of High-risk Screening Colonoscopy Billing Codes: A Population-based Study Among Young Adults. ⁶²	Paszat L...Baxter NN	35368324	2022
39	New insights on familial colorectal cancer type X syndrome. ⁶²	Garcia FAO...Palmero EI	35181726	2022
40	Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer. ⁶²	Zhu L...Forsti A	35158942	2022
41	Mapping psychosocial interventions in familial colorectal cancer: a rapid systematic review. ⁶²	Ciuca A...Baban A	34980016	2022
42	Adenoma and colorectal cancer risks in Lynch syndrome, Lynch-like syndrome and familial colorectal cancer type X. ⁶²	Bucksch K...German Consortium for Familial Intestinal Cancer	34469588	2022
43	Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer. ⁶²	Miao B...Bandapalli OR	35163215	2022
44	Germline mutations in a DNA repair pathway are associated with familial colorectal cancer. ⁶²	Xu P...Fang JY	34549727	2021
45	Characteristics of colorectal carcinoma patients with PMS2 defects detected by immunohistochemistry. ⁶²	Zeng Z...Xiao S	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	Skopelitou D...Bandapalli OR	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	Battagin AS...Marson FAL	33186612	2021
48	BRIP1, a Gene Potentially Implicated in Familial Colorectal Cancer Type X. ⁶²	Martin-Morales L...Caldes T	33115781	2021
49	Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer. ⁶²	Skopelitou D...Bandapalli OR	33673279	2021
50	Familial Colorectal Cancer and Genetic Susceptibility: Colorectal Risk Variants in First-Degree Relatives of Patients With Colorectal Cancer. ⁶²	Gargallo-Puyuelo CJ...Garcia-Gonzalez MA	33534415	2021

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Genes for Familial Colorectal Cancer

Genes related to Familial Colorectal Cancer (10 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MUTYH	MutY DNA Glycosylase	Protein Coding	432.7	Pathogenic ⁵ Likely pathogenic ⁵ GeneCards inferred via : Publications (show sections)	11818965 15890374 15931596 (more) 15987719 16140997 16557584 17219385 17489848 17949294 18534194 19394335 19732775 20663686 20848659 21171015 23035301 23108399 24444654 25820570
2	MSH2	MutS Homolog 2	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵
3	GREM1	Gremlin 1, DAN Family BMP Antagonist	Protein Coding	406.73	Pathogenic ⁵ GeneCards inferred via : Publications (show sections)	22561515 25992589 26493165 (more) 26947005
4	MLH1	MutL Homolog 1	Protein Coding	400	Pathogenic ⁵
5	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	400	Pathogenic ⁵	9806551 13298683 16407113 (more) 19218458
6	MT-CO2	Mitochondrially Encoded Cytochrome C Oxidase II	Protein Coding	400	Pathogenic ⁵	13298683 9806551
7	MT-CYB	Mitochondrially Encoded Cytochrome B	Protein Coding	400	Pathogenic ⁵	9806551 13298683
8	MT-ND4L	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4L	Protein Coding	400	Pathogenic ⁵	13298683 9806551
9	PLA2G2A	Phospholipase A2 Group IIA	Protein Coding	400	Pathogenic ⁵	9272153
10	TP53	Tumor Protein P53	Protein Coding	400	Pathogenic ⁵	1565144 12524418
11	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	25	Likely pathogenic ⁵

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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

Sources

Expression for Familial Colorectal Cancer

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

Sources

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	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ ITK and TCR Signaling ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴	12.61	TP53 PLA2G2A MSH2 MLH1
2	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁶ Show member pathways Electron transport chain: OXPHOS system in mitochondria ⁷⁴ Mitochondrial Uncoupling ⁶⁶ Oleoyl-phe metabolism ⁶⁶ Oxidative phosphorylation ⁷⁴ Respiratory electron transport ⁶⁶ The citric acid (TCA) cycle and respiratory electron transport ⁶⁶	12.57	MT-ND4L MT-CYB MT-CO2 MT-CO1
3	Regulation of TP53 Activity ⁶⁶ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁶ Regulation of TP53 Activity through Methylation ⁶⁶ Regulation of TP53 Activity through Phosphorylation ⁶⁶ Transcriptional Regulation by TP53 ⁶⁶	12.36	TP53 MT-CO2 MT-CO1 MSH2 MLH1
4	Endometrial cancer ⁷⁴ Show member pathways Chromosomal and microsatellite instability in colorectal cancer ⁷⁴ Melanoma ⁷⁴ Non-small cell lung cancer ⁷⁴ Pancreatic adenocarcinoma pathway ⁷⁴ Signal transduction PTEN pathway ²²	12.33	MLH1 MSH2 TGFBR2 TP53
5	Base excision repair ⁷⁴ Show member pathways Abasic sugar-phosphate removal via the single-nucleotide replacement pathway ⁶⁶ APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway ⁶⁶ Cell cycle Transition and termination of DNA replication ²² Displacement of DNA glycosylase by APEX1 ⁶⁶ DNA mismatch repair ⁷⁴ Gap-filling DNA repair synthesis and ligation in GG-NER ⁶⁶ Mismatch Repair in Eukaryotes ⁶⁴ PCNA-Dependent Long Patch Base Excision Repair ⁶⁶ POLB-Dependent Long Patch Base Excision Repair ⁶⁶ Resolution of Abasic Sites (AP sites) ⁶⁶ Resolution of AP sites via the multiple-nucleotide patch replacement pathway ⁶⁶ Resolution of AP sites via the single-nucleotide replacement pathway ⁶⁶	12.14	MUTYH MSH2 MLH1
6	DNA Damage ³	12.03	TP53 MUTYH MSH2 MLH1
7	Integrated breast cancer pathway ⁷⁴	11.83	TP53 TGFBR2 MSH2
8	Direct p53 effectors ⁶¹	11.72	TP53 MSH2 MLH1
9	TP53 Regulates Metabolic Genes ⁶⁶	11.48	TP53 MT-CO2 MT-CO1
10	DNA IR-damage and cellular response via ATR ⁷⁴	11.41	TP53 MSH2 MLH1
11	Colorectal Cancer Metastasis ⁶⁴	11.14	TP53 TGFBR2 MSH2 MLH1
12	Integrated cancer pathway ⁷⁴	11.13	TP53 MSH2
13	Platinum Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.99	MSH2 MLH1
14	Glypican 1 network ⁶¹	10.77	TGFBR2 PLA2G2A
15	Doxorubicin Pathway, Pharmacokinetics ⁶⁰ Show member pathways Doxorubicin Pathway (Cancer Cell), Pharmacodynamics ⁶⁰	10.73	TP53 MSH2 MLH1
16	Canonical and non-canonical TGF-B signaling ⁷⁴	10.69	TGFBR2 GREM1

Sources

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

Sources for Familial Colorectal Cancer

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: FML053 MIFTS: 45	Familial Colorectal Cancer Categories: Blood diseases, Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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