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FAP2
MCID: FML347
MIFTS: 55

Familial Adenomatous Polyposis 2 (FAP2)

Categories: Bone diseases, Cancer diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Familial Adenomatous Polyposis 2

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MalaCards integrated aliases for Familial Adenomatous Polyposis 2:

Name: Familial Adenomatous Polyposis 2 57 12 73 15
Colorectal Adenomatous Polyposis, Autosomal Recessive 57 6 71
Adenomas, Multiple Colorectal 57 29 13
Mutyh-Related Attenuated Familial Adenomatous Polyposis 12 58
Mutyh-Related Attenuated Familial Polyposis Coli 12 58
Mutyh-Related Attenuated Fap 12 58
Fap2 57 73
Colorectal Adenomatous Polyposis Autosomal Recessive 73
Adenomas, Multiple Colorectal, Autosomal Recessive 57
Adenomas Multiple Colorectal Autosomal Recessive 73
Adenomatous Polyposis, Familial, Type 2 39
Mutyh-Related Afap 58
Adenomatous Polyps 44

Characteristics:

Orphanet epidemiological data:

58
mutyh-related attenuated familial adenomatous polyposis
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
age at diagnosis ranges from the teens to the 60s


HPO:

31
familial adenomatous polyposis 2:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Gastrointestinal diseases Neuronal diseases Eye diseases Skin diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 12 DOID:0080410
OMIM® 57 608456
OMIM Phenotypic Series 57 PS175100
MeSH 44 D018256
ICD10 32 D12.6
ICD10 via Orphanet 33 D12.6
Orphanet 58 ORPHA247798
MedGen 41 C1837991
UMLS 71 C1837991
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Summaries for Familial Adenomatous Polyposis 2

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OMIM® : 57 Autosomal recessive colorectal adenomatous polyposis is a disorder characterized by adult-onset of multiple colorectal adenomas and adenomatous polyposis. Affected individuals have a significantly increased risk of colorectal cancer (summary by Sieber et al., 2003). Cheadle and Sampson (2003) reviewed the molecular pathology and biochemistry of MYH colonic polyposis. For a discussion of genetic heterogeneity of FAP, see 175100. (608456) (Updated 05-Mar-2021)

MalaCards based summary : Familial Adenomatous Polyposis 2, also known as colorectal adenomatous polyposis, autosomal recessive, is related to hereditary mixed polyposis syndrome and familial adenomatous polyposis. An important gene associated with Familial Adenomatous Polyposis 2 is MUTYH (MutY DNA Glycosylase), and among its related pathways/superpathways are Pathways in cancer and Colorectal Cancer Metastasis. The drugs Clarithromycin and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include colon, eye and liver, and related phenotypes are colorectal polyposis and adenomatous colonic polyposis

Disease Ontology : 12 A familial adenomatous polyposis that has material basis in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34.

UniProtKB/Swiss-Prot : 73 Familial adenomatous polyposis 2: A condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma.

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Related Diseases for Familial Adenomatous Polyposis 2

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Diseases in the Familial Adenomatous Polyposis family:

Familial Adenomatous Polyposis 1 Familial Adenomatous Polyposis 2
Familial Adenomatous Polyposis 3 Familial Adenomatous Polyposis 4

Diseases related to Familial Adenomatous Polyposis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 hereditary mixed polyposis syndrome 31.3 PTGS2 MUTYH MLH1
2 familial adenomatous polyposis 31.1 PTGS2 MUTYH MLH1 APC
3 hereditary nonpolyposis colon cancer 30.1 MUTYH MLH1
4 villous adenoma 30.0 MUC6 MLH1 APC
5 myh-associated polyposis 30.0 MUTYH APC
6 rectum cancer 29.8 MUTYH MLH1 APC
7 lynch syndrome 29.8 MUTYH MLH1 APC
8 microinvasive gastric cancer 29.7 MUC6 MLH1
9 colon adenocarcinoma 29.6 PTGS2 MLH1 APC
10 familial colorectal cancer 29.6 MUTYH MLH1 APC
11 colorectal adenocarcinoma 29.4 PTGS2 MLH1 APC
12 adenocarcinoma 29.4 PTGS2 MLH1 APC
13 colorectal adenoma 29.1 PTGS2 MUTYH MLH1 APC
14 intestinal benign neoplasm 29.1 PTGS2 MUTYH MLH1 APC
15 gastric cancer 28.9 PTGS2 MUTYH MUC6 MLH1 APC
16 adenoma 28.7 PTGS2 MUTYH MUC6 MLH1 APC
17 familial adenomatous polyposis 1 11.3
18 polyposis syndrome, hereditary mixed, 1 11.2
19 familial adenomatous polyposis 3 11.1
20 familial adenomatous polyposis 4 11.1
21 gastric adenocarcinoma and proximal polyposis of the stomach 11.1
22 in situ carcinoma 10.4
23 helicobacter pylori infection 10.3
24 ulcerative colitis 10.3
25 colitis 10.3
26 body mass index quantitative trait locus 1 10.2
27 gastritis 10.2
28 serrated polyposis syndrome 10.1 MUTYH APC
29 colorectal cancer 10.1
30 jejunal cancer 10.1 MUTYH MLH1
31 gallbladder disease 1 10.1
32 inflammatory bowel disease 10.1
33 non-alcoholic fatty liver disease 10.1
34 patau syndrome 10.1
35 gastric adenocarcinoma 10.1
36 liver disease 10.1
37 crohn's disease 10.1
38 diabetes mellitus 10.1
39 fatty liver disease 10.1
40 mutyh polyposis 10.1
41 chromosomal triplication 10.1
42 jejunal adenocarcinoma 10.1 MUTYH MLH1
43 attenuated familial adenomatous polyposis 10.0 MUTYH APC
44 colorectal cancer, hereditary nonpolyposis, type 6 10.0 MUTYH MLH1
45 sebaceous gland neoplasm 10.0 MUTYH MLH1
46 sebaceous adenoma 10.0 MUTYH MLH1
47 anal squamous cell carcinoma 10.0 MLH1 APC
48 mismatch repair cancer syndrome 1 10.0 MLH1 APC
49 small intestine adenocarcinoma 10.0 MUC6 MLH1
50 duodenum adenocarcinoma 10.0 MUC6 MLH1

Graphical network of the top 20 diseases related to Familial Adenomatous Polyposis 2:



Diseases related to Familial Adenomatous Polyposis 2
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Symptoms & Phenotypes for Familial Adenomatous Polyposis 2

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Human phenotypes related to Familial Adenomatous Polyposis 2:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 colorectal polyposis 58 31 hallmark (90%) Very frequent (99-80%) HP:0200063
2 adenomatous colonic polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0005227
3 adenocarcinoma of the colon 58 31 frequent (33%) Frequent (79-30%) HP:0040276
4 rectal polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0100896
5 congenital hypertrophy of retinal pigment epithelium 58 31 very rare (1%) Very rare (<4-1%) HP:0007649
6 colon cancer 31 very rare (1%) HP:0003003
7 large intestinal polyposis 58 Frequent (79-30%)
8 desmoid tumors 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Gastrointestinal:
multiple colonic adenomatous polyps
multiple colorectal polyps

Neoplasia:
increased risk of colorectal carcinoma

Clinical features from OMIM®:

608456 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Familial Adenomatous Polyposis 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.8 APC MLH1 MUTYH

MGI Mouse Phenotypes related to Familial Adenomatous Polyposis 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.02 APC MLH1 MPG MUTYH PTGS2
Sources

Drugs & Therapeutics for Familial Adenomatous Polyposis 2

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Drugs for Familial Adenomatous Polyposis 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 79)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clarithromycin Approved Phase 4 81103-11-9 84029
2 Anti-Infective Agents Phase 4
3 Cytochrome P-450 Enzyme Inhibitors Phase 4
4 Anti-Bacterial Agents Phase 4
5 Cytochrome P-450 CYP3A Inhibitors Phase 4
6
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
7
Sulindac Approved, Investigational Phase 3 38194-50-2 5352 1548887
8
Celecoxib Approved, Investigational Phase 3 169590-42-5 2662
9
Calcium carbonate Approved, Investigational Phase 3 471-34-1
10
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
11
Selenium Approved, Investigational, Vet_approved Phase 3 7782-49-2
12
Ornithine Approved, Nutraceutical Phase 3 70-26-8, 3184-13-2 6262
13
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
14 Liver Extracts Phase 2, Phase 3
15 Omega 3 Fatty Acid Phase 2, Phase 3
16 Antiparasitic Agents Phase 3
17 Antiprotozoal Agents Phase 3
18 Cyclooxygenase 2 Inhibitors Phase 3
19 Immunologic Factors Phase 3
20 Immunoglobulins Phase 3
21 Antibodies Phase 3
22 Micronutrients Phase 3
23 Trace Elements Phase 3
24 Vitamins Phase 3
25 Hormones Phase 3
26 Calcium, Dietary Phase 3
27 Nutrients Phase 3
28 Anti-Inflammatory Agents Phase 3
29 Antirheumatic Agents Phase 3
30 Cyclooxygenase Inhibitors Phase 3
31 Analgesics, Non-Narcotic Phase 3
32 Analgesics Phase 3
33 Anti-Inflammatory Agents, Non-Steroidal Phase 3
34 Antacids Phase 3
35 Fibrinolytic Agents Phase 3
36 Gastrointestinal Agents Phase 3
37 Anti-Ulcer Agents Phase 3
38 Dihydroxycholecalciferols Phase 3
39 Platelet Aggregation Inhibitors Phase 3
40 Vasoconstrictor Agents Phase 3
41 Antipyretics Phase 3
42 Protective Agents Phase 3
43 Antioxidants Phase 3
44
Calcium Nutraceutical Phase 3 7440-70-2 271
45
Metformin Approved Phase 2 657-24-9 14219 4091
46
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
47
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
48
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
49 Vitamin D2 Phase 2
50 Ergocalciferols Phase 2

Interventional clinical trials:

(show top 50) (show all 70)
# Name Status NCT ID Phase Drugs
1 Clinical Evidence-based Evaluation of the Efficacy of Xiaoai Jiedu Decoction in Preventing Colorectal Adenomatous Polyp Recurrence After Polypectomy Under Colonoscopy and Its Therapeutic Mechanism Unknown status NCT03616444 Phase 4 Xiaoai Jiedu Decoction
2 Prospective Comparison of NBI and i-Scan in Real-time Histological Prediction of Diminutive Colonic Polyps Completed NCT01133041 Phase 4
3 Can Involvement of Endoscopy Nurse Participation Increase Adenoma Detection Rate During Screening Colonoscopy?:A Prospective Multicenter Randomized Trial Completed NCT01124266 Phase 4
4 Effect of H. Pylori Eradication on the Fate of H. Pylori-associated Gastric Polyp (Randomized Controlled Study) Completed NCT03065868 Phase 4 H. pylori eradication (Amoxaxillin, Lanston, Clarithromycin)
5 The Effect of Two Dose Levels of Eicosapentaenoic Acid (EPA) on Apoptosis and Cell Proliferation in the Colonic Mucosa of Patients With a History of Colonic Polyps. Completed NCT00432913 Phase 2, Phase 3 Eicosapentaenoic Acid (EPA)
6 A Phase III Randomized, Double-Blind, Placebo-Controlled Clinical Trial of the Combination of DFMO and Sulindac to Decrease the Rate of Recurrence of Adenomatous Polyps in the Colon Completed NCT00118365 Phase 3 eflornithine;sulindac
7 Clinical Protocol For a Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of Celecoxib (SC-58635) In The Prevention of Colorectal Sporadic Adenomatous Polyps (PRESAP) Completed NCT00141193 Phase 3 Celecoxib
8 PD-1 Antibody for the Prevention of Adenomatous Polyps and Second Primary Tumors in Patients With Lynch Syndrome: An Open-label, Multicenter, Randomized Controlled Clinical Trial Recruiting NCT04711434 Phase 3 PD-1 Antibody
9 A Clinical Trial Evaluating the Efficacy and Safety of a Combination Treatment Administered Over 3 Years in Patients at Risk of Experiencing Recurrence of Colorectal Adenomas Terminated NCT00486512 Phase 3 0.5 mg calcitriol (1a -25-dihydroxycholecalciferol);75 mg acetylsalicylic acid (ASA) + 1250 mg calcium carbonate (CaCO3);placebo to 0.5 mg calcitriol (1a -25-dihydroxycholecalciferol);placebo to 75 mg acetylsalicylic acid (ASA) + 1250 mg calcium carbonate (CaCO3)
10 Phase III Study of the Effects of Selenium on Adenomatous Polyp Recurrence Terminated NCT00078897 Phase 3 Selenium
11 Calcium, Vitamin D, and Colon Cancer Risk Biomarkers Completed NCT00208793 Phase 2 Placebo
12 Fatty Acid Desaturase Activity, Fish Oil and Colorectal Cancer Prevention Completed NCT01661764 Phase 2 Eicosapentanoic acid and docosahexanoic acid;Oleic Acid
13 A Phase IIa Trial of Metformin for Colorectal Cancer Risk Reduction Among Patients With a History of Colorectal Adenomas and Elevated Body Mass Index Completed NCT01312467 Phase 2 metformin hydrochloride
14 A Phase IIa Randomized, Double-Blind Trial of Erlotinib in Inhibiting EGF Receptor Signaling in Aberrant Crypt Foci of the Colon Completed NCT00754494 Phase 2 erlotinib hydrochloride
15 Randomized Phase II Trial of Aspirin and Difluoromethylornithine (DFMO) in Patients at High Risk of Colorectal Cancer Completed NCT00983580 Phase 2 Aspirin;Eflornithine
16 Polyethylene Glycol for ACF Reduction and Biomarker Modulation in Individuals With CRC Risk Completed NCT00828984 Phase 2 macrogol 3350-based oral osmotic laxative
17 Study of Performance of Confocal Endomicroscope With Fluorescein Imaging Agent in the Colon Recruiting NCT03220711 Phase 1 Fluorescein
18 A Prospective Investigation of the ColubrisMX Endoluminal Surgical (ELS) System Active, not recruiting NCT04192565 Phase 1
19 Prospective Comparison of Capsule Endoscopy Pillcam IIâ„¢ Versus Colonoscopy for the Detection of Adenomatous Polyps and Cancer in a High Risk Population Unknown status NCT01184781
20 A Prospective, Single Blinded Study for Predicting Colon Polyp Histology With Narrow Band Imaging Unknown status NCT00613262
21 Prospective Study for Evaluating Colon Polyp Histology With in Vivo Probe Based Confocal Laser Endomicroscopy Unknown status NCT01214031
22 Resect and Discard Extension to Fuji Intelligent Color Enhancement (FICE) of Narrow Band Imaging International Colorectal Endoscopic (NicE) Classification Unknown status NCT02263144
23 Bioavailability of Phytoestrogens and Prevalence of Adenomatous Polyps in Human Colon Completed NCT03417258
24 Validating the Performance of Artificial Intelligence in Identifying Polyps in Real-world Colonoscopy Completed NCT03761771
25 The Effects of a High Legume Low Glycemic Index Diet on Insulin Resistance and Inflammation in Patients at High Risk for Colorectal Adenoma Recurrence Completed NCT00339469 Early Phase 1
26 "Resect and Discard" Approach to Diminutive Colonic Polyps: Real World Applicability Amongst Both Academic and Community Gastroenterologists Completed NCT01877525
27 Multi-Target Colorectal Cancer Screening Test for the Detection of Colorectal Advanced Adenomatous Polyps and Cancer: DeeP-C Study Completed NCT01397747
28 Complete Histologic Resection of Adenomatous Polyps? (Complete Adenoma REsection Trial - CARE Trial) Completed NCT01224444
29 I-scan Versus Standard High-Definition White Light for the Detection of Adenomatous Polyps Completed NCT02811419
30 Does Cap Assisted Colonoscopy Improve Detection of Adenomatous Polyps? (CAP Trial) Completed NCT01935180
31 The Effect of an Intensive Endoscopic Quality Improvement Program (EQUIP) on Improved Detection and Classification of Non-polypoid (Flat and Depressed) and Polypoid Colorectal Adenomas. ("EQUIP" Study) Completed NCT01415817
32 A Randomized Controlled Trial to Evaluate Effectiveness and Safety of the Colonoscopy With the "Visualization" Balloon Completed NCT02117232
33 Calcium/Vitamin D, Biomarkers & Colon Polyp Prevention Completed NCT00399607
34 A Randomized Controlled Trial to Evaluate Effectiveness and Safety of the Endoscopic Removal of Large and Flat Colonic Polyps With LumenR RetractorTM (LR) as a Modified Colonic Overtube Completed NCT02051465
35 PLA Army General Hospital of Beijing Completed NCT03647176
36 Endocuff vs Transparent Cap To Increase Adenoma Detection Rate During Colonoscopy Completed NCT03197987
37 Endocuff-assisted Colonoscopy: a Randomized Back-to-back Colonoscopy Study of Adenoma Detection. Completed NCT02374515
38 A Multicenter, Prospective, Randomized Controlled Trial for the Detection of Colon Polyps and Predicting Histology Completed NCT00614770
39 Accuracy of Narrow Band Imaging in Predicting Colonoscopy Surveillance Intervals and Histology of Distal Diminutive Polyps (Small Hyperplastic and Adenomatous Reliability Protocol; SHARP Trial) Completed NCT01675752
40 Single Incision Laparoscopic Surgery (SILS) for Colorectal Disease - A Novel Approach Completed NCT01656746
41 Screening of Colorectal Cancer Using Improved SEPT9 (Septin 9) Gene Methylation Assay in Chinese Population Completed NCT02540850
42 Practice-Based Learning to Predict Polyp Histology at Colonoscopy: A Demonstration Project in Community Practice Completed NCT01638091
43 Stool KRAS Mutation, BMP3/NDRG4 Methylation and FIT Panel Test for the Detection of Colorectal Advanced Neoplasia in High Risk Chinese Patients Completed NCT04287335
44 Screening for Colorectal Cancer in Average and High Risk Iraqi Population: A Pilot Study Completed NCT04017845 Early Phase 1 Tribenoside 400 mg + lidocaine 40 mg suppositories;Diltiazem hydrochloride 2%/Nitroglycerin rectal ointment
45 Prospective Randomised Trial to Analyse the Advantages of the New Virtual Chromoendoscopy Features and the Variable Stiffness in Connection With Our Colonoscopic Examinations Completed NCT03234725
46 Computer Aided Detection of Polyps During Colonoscopy Procedures Completed NCT04195646
47 Prevalence and Topography of Adenomas in 40-49 Year Old Patients With a Family History of Colon Cancer Completed NCT02289053
48 Traction Assisted Endoscopic Mucosa Resection (TAEMR) Completed NCT00966420
49 Use of Ambient Lighting During Colonoscopy and Its Effect on Adenoma Detection Rate and Eye Fatigue: a Pilot Study Completed NCT04441242
50 Endoscopic Size Assessment of Advanced Adenomatous Polyps; Inter Observer Variations Recruiting NCT02193646

Search NIH Clinical Center for Familial Adenomatous Polyposis 2

Cochrane evidence based reviews: adenomatous polyps

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Genetic Tests for Familial Adenomatous Polyposis 2

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Genetic tests related to Familial Adenomatous Polyposis 2:

# Genetic test Affiliating Genes
1 Adenomas, Multiple Colorectal 29
Sources

Anatomical Context for Familial Adenomatous Polyposis 2

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MalaCards organs/tissues related to Familial Adenomatous Polyposis 2:

40
Colon, Eye, Liver, Breast, Prostate
Sources

Publications for Familial Adenomatous Polyposis 2

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Articles related to Familial Adenomatous Polyposis 2:

(show top 50) (show all 111)
# Title Authors PMID Year
1
First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. 6 57
21815886 2011
2
Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer. 6 57
17956577 2007
3
A kindred with MYH-associated polyposis and pilomatricomas. 6 57
15690400 2005
4
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 57 6
12606733 2003
5
Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. 57 6
12393807 2002
6
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 57 6
11818965 2002
7
Exposing the MYtH about base excision repair and human inherited disease. 57
12915454 2003
8
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. 57
12853198 2003
9
Microbiota Effects on Carcinogenesis: Initiation, Promotion, and Progression. 61
33052764 2021
10
Fusobacterium nucleatum host-cell binding and invasion induces IL-8 and CXCL1 secretion that drives colorectal cancer cell migration. 61
32694172 2020
11
Breast cancer colonization by Fusobacterium nucleatum accelerates tumor growth and metastatic progression. 61
32591509 2020
12
Oral and intestinal bacterial exotoxins: Potential linked to carcinogenesis. 61
32475520 2020
13
Circulating and Salivary Antibodies to Fusobacterium nucleatum Are Associated With Cystic Pancreatic Neoplasm Malignancy. 61
32983143 2020
14
Utilizing Whole Fusobacterium Genomes To Identify, Correct, and Characterize Potential Virulence Protein Families. 61
31501282 2019
15
Isolation, functional characterization and efficacy of biofilm-forming rhizobacteria under abiotic stress conditions. 61
31372943 2019
16
Targeting Programmed Fusobacterium nucleatum Fap2 for Colorectal Cancer Therapy. 61
31635333 2019
17
The role of Fusobacterium nucleatum in colorectal cancer: from carcinogenesis to clinical management. 61
31891129 2019
18
Fusobacterium nucleatum Contributes to the Carcinogenesis of Colorectal Cancer by Inducing Inflammation and Suppressing Host Immunity. 61
30986689 2019
19
Fusobacterium nucleatum and colorectal cancer: A mechanistic overview. 61
30191984 2019
20
Fluorescent Pseudomonas -FAP2 and Bacillus licheniformis interact positively in biofilm mode enhancing plant growth and photosynthetic attributes. 61
30872708 2019
21
Fusobacterium nucleatum supresses anti-tumor immunity by activating CEACAM1. 61
31069151 2019
22
The Helicobacter pylori HopQ outermembrane protein inhibits immune cell activities. 61
30906650 2019
23
Immunogenicity of a Fap2 peptide mimotope of Fusobacterium nucleatum and its potential use in the diagnosis of colorectal cancer. 61
29619076 2018
24
Fusobacterium's link to colorectal neoplasia sequenced: A systematic review and future insights. 61
29358871 2017
25
Adrenal Lesions in Patients With (Attenuated) Familial Adenomatous Polyposis and MUTYH-Associated Polyposis. 61
28891849 2017
26
Locoregional Effects of Microbiota in a Preclinical Model of Colon Carcinogenesis. 61
28416491 2017
27
Carcinogenesis mechanisms of Fusobacterium nucleatum. 61
28292019 2017
28
Tumor Targeting by Fusobacterium nucleatum: A Pilot Study and Future Perspectives. 61
28713780 2017
29
The effect of a germline mutation in the APC gene on β-catenin in human embryonic stem cells. 61
28010732 2016
30
When Mr. Fap Meets the Gals. 61
27512897 2016
31
Fap2 Mediates Fusobacterium nucleatum Colorectal Adenocarcinoma Enrichment by Binding to Tumor-Expressed Gal-GalNAc. 61
27512904 2016
32
[Genetics of Colorectal Tumorigenesis (Possibilities of Testing and Screening Prediction of Hereditary Form of Colorectal Cancer--Lynch Syndrome)]. 61
26691943 2016
33
Fap2 of Fusobacterium nucleatum is a galactose-inhibitable adhesin involved in coaggregation, cell adhesion, and preterm birth. 61
25561710 2015
34
Binding of the Fap2 protein of Fusobacterium nucleatum to human inhibitory receptor TIGIT protects tumors from immune cell attack. 61
25680274 2015
35
Theoretical studies on electronic structures and photophysical properties of anthracene derivatives as hole-transporting materials for OLEDs. 61
24524931 2014
36
Fusobacterium nucleatum outer membrane proteins Fap2 and RadD induce cell death in human lymphocytes. 61
20823215 2010
37
Feeding mink (Neovison vison) a protein-restricted diet during pregnancy induces higher birth weight and altered hepatic gene expression in the F(2) offspring. 61
20334712 2010
38
Progress in COX-2 inhibitors: a journey so far. 54
20166930 2010
39
Non-steroidal anti-inflammatory drugs and the risk of cardiovascular diseases: are we going to see the revival of cyclooxygenase-2 selective inhibitors? 54
19413182 2009
40
Age-related increase in colorectal cancer stem cells in macroscopically normal mucosa of patients with adenomas: a risk factor for colon cancer. 54
19010307 2009
41
Colorectal cancer: a summary of the evidence for screening and prevention. 54
19119558 2008
42
Methylation pattern of the O6-methylguanine-DNA methyltransferase gene in colon during progressive colorectal tumorigenesis. 54
18240147 2008
43
COX-2 expression in sporadic colorectal adenomatous polyps is linked to adenoma characteristics. 54
18462368 2008
44
Mucins in the colorectal neoplastic spectrum with reference to conventional and serrated adenomas. 54
18080919 2007
45
hMLH1, hMSH2 and cyclooxygenase-2 (cox-2) in sporadic colorectal polyps. 54
18214062 2007
46
Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics. 54
17674103 2007
47
Homeobox protein CDX2 reduces Cox-2 transcription by inactivating the DNA-binding capacity of nuclear factor-kappaB. 54
17876541 2007
48
[Selective cyclooxygenase-2 inhibitors for the prevention of colorectal adenomas: a meta-analysis]. 54
17923032 2007
49
Disease-associated casein kinase I delta mutation may promote adenomatous polyps formation via a Wnt/beta-catenin independent mechanism. 54
17131344 2007
50
Survey of molecular profiling during human colon cancer development and progression by immunohistochemical staining on tissue microarray. 54
17278192 2007
Sources

Variations for Familial Adenomatous Polyposis 2

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ClinVar genetic disease variations for Familial Adenomatous Polyposis 2:

6 (show top 50) (show all 929)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MUTYH NM_012222.2(MUTYH):c.1452del (p.Thr485fs) Deletion Pathogenic 5295 rs146331482 1:45796869-45796869 1:45331197-45331197
2 MUTYH NM_001128425.1(MUTYH):c.348+33_*210delinsTA Indel Pathogenic 30441 1:45794768-45799052 1:45329096-45333380
3 MUTYH NM_001128425.1(MUTYH):c.1418C>A (p.Ala473Asp) SNV Pathogenic 41041 rs200844166 1:45796912-45796912 1:45331240-45331240
4 MUTYH NM_001048171.1(MUTYH):c.1105del (p.Ala371fs) Deletion Pathogenic 134860 rs587778536 1:45797372-45797372 1:45331700-45331700
5 MUTYH NM_001128425.1(MUTYH):c.1214_1224del (p.Pro405fs) Deletion Pathogenic 216080 rs863224501 1:45797191-45797201 1:45331519-45331529
6 MUTYH NM_001128425.1(MUTYH):c.389-2A>G SNV Pathogenic 215998 rs863224452 1:45798844-45798844 1:45333172-45333172
7 MUTYH NC_000001.11:g.(?_45329306)_(45333324_?)del Deletion Pathogenic 437842 1:45794978-45798996 1:45329306-45333324
8 MUTYH NM_001128425.1(MUTYH):c.1474A>T (p.Lys492Ter) SNV Pathogenic 216081 rs863224502 1:45796856-45796856 1:45331184-45331184
9 MUTYH NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter) SNV Pathogenic 127845 rs587780088 1:45800165-45800165 1:45334493-45334493
10 MUTYH NM_001128425.1(MUTYH):c.470C>T (p.Pro157Leu) SNV Pathogenic 185653 rs777184451 1:45798624-45798624 1:45332952-45332952
11 MUTYH NM_001128425.1(MUTYH):c.799C>T (p.Gln267Ter) SNV Pathogenic 186651 rs786203115 1:45797972-45797972 1:45332300-45332300
12 MUTYH NM_001048174.2(MUTYH):c.305-1G>C SNV Pathogenic 234229 rs372267274 1:45798843-45798843 1:45333171-45333171
13 MUTYH NM_001293192.1(MUTYH):c.-28dup Duplication Pathogenic 238345 rs878854189 1:45799099-45799100 1:45333427-45333428
14 MUTYH NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) SNV Pathogenic 156509 rs587783057 1:45797348-45797348 1:45331676-45331676
15 MUTYH NM_001128425.1(MUTYH):c.1281G>A (p.Trp427Ter) SNV Pathogenic 406830 rs1060501325 1:45797134-45797134 1:45331462-45331462
16 MUTYH NM_001293192.1(MUTYH):c.-153del Deletion Pathogenic 406847 rs1060501336 1:45800118-45800118 1:45334446-45334446
17 MUTYH NM_001128425.1(MUTYH):c.453_458dup (p.Met153_Gln154insIleTrp) Duplication Pathogenic 233094 rs876660190 1:45798772-45798773 1:45333100-45333101
18 MUTYH NM_001128425.1(MUTYH):c.1267G>T (p.Glu423Ter) SNV Pathogenic 406823 rs1060501321 1:45797148-45797148 1:45331476-45331476
19 MUTYH NM_001048171.1(MUTYH):c.970C>T (p.Gln324Ter) SNV Pathogenic 127835 rs587780082 1:45797507-45797507 1:45331835-45331835
20 MUTYH NM_001128425.1(MUTYH):c.1240C>T (p.Gln414Ter) SNV Pathogenic 406824 rs766420907 1:45797175-45797175 1:45331503-45331503
21 MUTYH NM_001128425.1(MUTYH):c.389-1G>A SNV Pathogenic 186819 rs372267274 1:45798843-45798843 1:45333171-45333171
22 MUTYH NM_001048171.1(MUTYH):c.247C>T (p.Arg83Ter) SNV Pathogenic 140827 rs138775799 1:45799144-45799144 1:45333472-45333472
23 MUTYH NM_001350650.1(MUTYH):c.33+119_33+132dup Duplication Pathogenic 406838 rs1553129652 1:45798824-45798825 1:45333152-45333153
24 MUTYH NM_001128425.1(MUTYH):c.586G>T (p.Glu196Ter) SNV Pathogenic 406822 rs745921592 1:45798350-45798350 1:45332678-45332678
25 MUTYH NM_001048171.1(MUTYH):c.697C>T (p.Arg233Ter) SNV Pathogenic 143003 rs587782885 1:45798112-45798112 1:45332440-45332440
26 MUTYH NM_012222.2(MUTYH):c.725G>A (p.Arg242His) SNV Pathogenic 140877 rs140342925 1:45798117-45798117 1:45332445-45332445
27 MUTYH NM_001128425.1(MUTYH):c.940C>T (p.Gln314Ter) SNV Pathogenic 140876 rs587781338 1:45797752-45797752 1:45332080-45332080
28 MUTYH NM_001128425.1(MUTYH):c.37-1317_667del Deletion Pathogenic 464717 1:45798269-45801500 1:45332597-45335828
29 MUTYH NM_001350650.1(MUTYH):c.33+147del Deletion Pathogenic 464719 rs1553129638 1:45798810-45798810 1:45333138-45333138
30 MUTYH NM_012222.2(MUTYH):c.1347del (p.Tyr450fs) Deletion Pathogenic 464690 rs1553125243 1:45796974-45796974 1:45331302-45331302
31 MUTYH NM_001128425.1(MUTYH):c.628C>T (p.Gln210Ter) SNV Pathogenic 233460 rs376561094 1:45798308-45798308 1:45332636-45332636
32 MUTYH NM_012222.2(MUTYH):c.800delinsAG (p.Val267fs) Indel Pathogenic 533305 rs1553127825 1:45797962-45797962 1:45332290-45332290
33 MUTYH NM_012222.2(MUTYH):c.1271_1280del (p.Trp424fs) Deletion Pathogenic 533306 rs1553125677 1:45797126-45797135 1:45331454-45331463
34 MUTYH NM_001128425.1(MUTYH):c.789G>A (p.Trp263Ter) SNV Pathogenic 565890 rs1338038953 1:45797982-45797982 1:45332310-45332310
35 MUTYH NM_012222.2(MUTYH):c.1092dup (p.Arg365fs) Duplication Pathogenic 185770 rs768130289 1:45797417-45797418 1:45331745-45331746
36 MUTYH NC_000001.11:g.(?_45329300)_(45333609_?)del Deletion Pathogenic 533333 1:45794972-45799281 1:45329300-45333609
37 MUTYH NC_000001.11:g.(?_45332568)_(45334517_?)del Deletion Pathogenic 533332 1:45798240-45800189 1:45332568-45334517
38 MUTYH NM_012222.2(MUTYH):c.1015_1037del (p.Cys339fs) Deletion Pathogenic 533319 rs1553126848 1:45797473-45797495 1:45331801-45331823
39 MUTYH NM_001128425.1(MUTYH):c.971C>A (p.Ser324Ter) SNV Pathogenic 569689 rs558173961 1:45797721-45797721 1:45332049-45332049
40 MUTYH NM_001293192.1(MUTYH):c.-164del Deletion Pathogenic 141379 rs587781704 1:45800129-45800129 1:45334457-45334457
41 MUTYH NM_012222.2(MUTYH):c.1312del (p.Glu438fs) Deletion Pathogenic 421975 rs1064795480 1:45797094-45797094 1:45331422-45331422
42 MUTYH NM_001128425.1(MUTYH):c.308G>A (p.Trp103Ter) SNV Pathogenic 485909 rs1553130185 1:45799125-45799125 1:45333453-45333453
43 MUTYH NM_001128425.1(MUTYH):c.178G>T (p.Glu60Ter) SNV Pathogenic 582666 rs1557487793 1:45799255-45799255 1:45333583-45333583
44 MUTYH NM_001128425.1(MUTYH):c.688C>T (p.Gln230Ter) SNV Pathogenic 423786 rs1064796630 1:45798248-45798248 1:45332576-45332576
45 MUTYH NM_001128425.1(MUTYH):c.463A>T (p.Lys155Ter) SNV Pathogenic 234000 rs876660787 1:45798631-45798631 1:45332959-45332959
46 MUTYH NM_001048174.2(MUTYH):c.1103-2A>G SNV Pathogenic 141282 rs587781628 1:45797230-45797230 1:45331558-45331558
47 MUTYH NM_001048174.2(MUTYH):c.305-1G>C SNV Pathogenic 234229 rs372267274 1:45798843-45798843 1:45333171-45333171
48 MUTYH NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter) SNV Pathogenic 127845 rs587780088 1:45800165-45800165 1:45334493-45334493
49 MUTYH NM_012222.2(MUTYH):c.1501_1508delinsCCAACAGCCCA (p.Thr501_Met503delinsProThrAlaGln) Indel Pathogenic 587356 rs1557451154 1:45796189-45796196 1:45330517-45330524
50 MUTYH NM_001128425.1(MUTYH):c.788G>A (p.Trp263Ter) SNV Pathogenic 641274 rs1570406302 1:45798063-45798063 1:45332391-45332391

UniProtKB/Swiss-Prot genetic disease variations for Familial Adenomatous Polyposis 2:

73 (show all 22)
# Symbol AA change Variation ID SNP ID
1 MUTYH p.Tyr176Cys VAR_018873 rs34612342
2 MUTYH p.Gly393Asp VAR_018875 rs36053993
3 MUTYH p.Tyr125His VAR_026045
4 MUTYH p.Trp128Arg VAR_026046 rs730881832
5 MUTYH p.Arg179His VAR_026047 rs143353451
6 MUTYH p.Arg179Cys VAR_064939 rs747993448
7 MUTYH p.Arg182Trp VAR_064940 rs750592289
8 MUTYH p.Pro154Leu VAR_077646 rs777184451
9 MUTYH p.Tyr177Ser VAR_077647
10 MUTYH p.Arg182Gln VAR_077648 rs533899702
11 MUTYH p.Gly186Glu VAR_077649 rs754155145
12 MUTYH p.Gly213Glu VAR_077650 rs768553551
13 MUTYH p.Asn235Ser VAR_077654 rs105751776
14 MUTYH p.Arg242His VAR_077656 rs140342925
15 MUTYH p.Arg271Trp VAR_077659 rs769237459
16 MUTYH p.Met280Val VAR_077660 rs876659676
17 MUTYH p.Pro292Leu VAR_077663 rs374950566
18 MUTYH p.Pro377Thr VAR_077667
19 MUTYH p.Leu385Pro VAR_077668 rs106050133
20 MUTYH p.Pro402Leu VAR_077669 rs529008617
21 MUTYH p.Ala470Asp VAR_077674 rs200844166
22 MUTYH p.Ala486Thr VAR_077677 rs587782263

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Expression for Familial Adenomatous Polyposis 2

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Search GEO for disease gene expression data for Familial Adenomatous Polyposis 2.
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Pathways for Familial Adenomatous Polyposis 2

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Pathways related to Familial Adenomatous Polyposis 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Pathways in cancer 36
12.16 PTGS2 MLH1 APC
2
Colorectal Cancer Metastasis 63
11.35 PTGS2 MLH1 APC
3
Busulfan Pathway, Pharmacodynamics 60
Show member pathways
 10.8 MPG MLH1
4
Recognition and association of DNA glycosylase with site containing an affected purine 65
Show member pathways
 9.58 MUTYH MPG
Sources

GO Terms for Familial Adenomatous Polyposis 2

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Biological processes related to Familial Adenomatous Polyposis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.54 MUTYH MPG MLH1
2 positive regulation of cell death GO:0010942 9.32 PTGS2 APC
3 mismatch repair GO:0006298 9.26 MUTYH MLH1
4 cellular response to DNA damage stimulus GO:0006974 9.26 MUTYH MPG MLH1 APC
5 base-excision repair GO:0006284 9.16 MUTYH MPG
6 depurination GO:0045007 8.62 MUTYH MPG

Molecular functions related to Familial Adenomatous Polyposis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA N-glycosylase activity GO:0019104 8.96 MUTYH MPG
2 MutSalpha complex binding GO:0032407 8.62 MUTYH MLH1
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Sources for Familial Adenomatous Polyposis 2

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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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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