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FAP
MCID: FML011
MIFTS: 72

Familial Adenomatous Polyposis (FAP)

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

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MalaCards integrated aliases for Familial Adenomatous Polyposis:

Name: Familial Adenomatous Polyposis 12 74 52 25 36 29 54 6 15
Adenomatous Polyposis Coli 52 25 43 71
Familial Multiple Polyposis Syndrome 25 29 6
Adenomatous Polyposis of the Colon 12 52
Familial Intestinal Polyposis 52 71
Fap 52 25
Familial Adenomatous Polyposis of the Colon 52
Adenomatous Familial Polyposis Syndrome 25
Polyposis, Adenomatous Intestinal 52
Familial Polyposis of the Colon 52
Adenomatous Polyposis, Familial 39
Adenomatous Familial Polyposis 25
Familial Multiple Polyposis 52
Hereditary Polyposis Coli 52
Mutyh-Associate Polyposis 71
Myh-Associated Polyposis 25
Familial Polyposis Coli 52
Fpc 52

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Cancer diseases Fetal diseases
Anatomical: Gastrointestinal diseases Skin diseases Bone diseases Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0050424
KEGG 36 H01025
MeSH 43 D011125
NCIt 49 C3339
SNOMED-CT 67 70921007
UMLS 71 C0032580 C2713443 C3272841
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Summaries for Familial Adenomatous Polyposis

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Genetics Home Reference : 25 Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years. In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome. A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis.

MalaCards based summary : Familial Adenomatous Polyposis, also known as adenomatous polyposis coli, is related to attenuated familial adenomatous polyposis and myh-associated polyposis, and has symptoms including abdominal pain and diarrhea. An important gene associated with Familial Adenomatous Polyposis is APC (APC Regulator Of WNT Signaling Pathway), and among its related pathways/superpathways are Wnt signaling pathway and Regulation of actin cytoskeleton. The drugs Erythromycin and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and testes, and related phenotypes are multiple gastric polyps and duodenal polyposis

Disease Ontology : 12 An intestinal disease that has material basis in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.

NIH Rare Diseases : 52 Familial adenomatous polyposis (FAP) is an inherited condition that causes cancer of the large intestine (colon) and rectum. People with the classic type of FAP usually develop hundreds to thousands of noncancerous (benign) polyps (growths) in the colon as early as their teenage years. Overtime, these polyps can become malignant (cancerous), leading to early-onset colorectal cancer at an average age of 39 years. Other signs and symptoms may include dental abnormalities; desmoid tumors ; and benign and malignant tumors of the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues . Some people have a milder form of the condition called attenuated familial adenomatous polyposis (AFAP) which is generally characterized by fewer colon polyps (an average of 30) and a delay in the development of colon cancer by 10-15 years. FAP is caused by changes (mutations ) in the APC gene and is inherited in an autosomal dominant manner. People with FAP usually undergo regular screening until they develop 20 to 30 polyps and then a colectomy (removal of colon) is generally recommended.

KEGG : 36 Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disorder characterized by the early onset of hundreds to thousands of adenomas throughout in the rectum and colon. If left untreated, all patients with FAP develop colon cancer a decade after the appearance of the polyps. The genetic defect in FAP is a germline mutation in the adenomatous polyposis coli (APC) gene. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition.

Wikipedia : 74 Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous... more...

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Related Diseases for Familial Adenomatous Polyposis

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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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 672)
# Related Disease Score Top Affiliating Genes
1 attenuated familial adenomatous polyposis 35.2 MUTYH MSH6 MSH2 APC
2 myh-associated polyposis 34.2 MUTYH MSH2 KRAS APC
3 desmoid tumor 33.8 PTGS2 MUTYH CTNNB1 CCND1 APC
4 hepatoblastoma 33.3 TP53 MYC HNF4A CTNNB1 APC
5 mismatch repair cancer syndrome 33.3 MSH6 MSH2 MLH1 CTNNB1 APC
6 breast ductal carcinoma 32.9 TP53 CTNNB1 CDH1 CCND1
7 medulloblastoma 32.2 TP53 PTGS2 MYC MSH6 MSH2 GSK3B
8 gastric cancer 31.9 TP53 PTGS2 MYC MUTYH MSH2 MLH1
9 ulcerative colitis 31.9 MSH6 MSH2 MLH1 CTNNB1
10 rectum cancer 31.7 MUTYH MSH6 MSH2 MLH1 KRAS APC
11 colitis 31.7 PTGS2 MSH6 MSH2 MLH1 CTNNB1
12 adenoma 31.6 TP53 PTGS2 MUTYH MSH6 MSH2 MLH1
13 pancreatic ductal adenocarcinoma 31.5 TP53 MYC KRAS CTNNB1 CDH1 CCND1
14 familial colorectal cancer 31.5 MUTYH MSH2 MLH1 CDH1 APC
15 duodenum adenocarcinoma 31.3 MSH6 MSH2 MLH1 KRAS
16 colorectal adenoma 31.3 TP53 PTGS2 MYC MUTYH MSH2 MLH1
17 periampullary adenoma 31.2 MSH6 KRAS APC
18 hyperplastic polyposis syndrome 31.2 TP53 MUTYH KRAS APC
19 in situ carcinoma 31.2 TP53 MYC CTNNB1 CDH1 CCND1
20 microcystic stromal tumor 31.1 CTNNB1 CCND1
21 jejunal cancer 31.1 MUTYH MSH6 MSH2 MLH1
22 colonic disease 31.1 TP53 MYC KRAS CTNNB1 APC
23 villous adenoma 31.1 TP53 MLH1 KRAS APC
24 pilomatrixoma 31.1 MUTYH CTNNB1 AXIN1
25 peutz-jeghers syndrome 31.0 TP53 CTNNB1 APC
26 ascending colon cancer 31.0 MSH2 MLH1 KRAS
27 jejunal adenocarcinoma 31.0 MUTYH MSH6 MLH1
28 microinvasive gastric cancer 31.0 TP53 MLH1 CDH1
29 ameloblastoma 31.0 TP53 KRAS CTNNB1
30 skin benign neoplasm 30.9 MSH6 MSH2 MLH1
31 oral submucous fibrosis 30.9 TP53 PTGS2 CDH1
32 hemangioma 30.9 TP53 MYC KRAS CTNNB1
33 polyposis syndrome, hereditary mixed, 1 30.9 PTGS2 MUTYH MSH2 MLH1 APC
34 thyroid gland cancer 30.9 TP53 KRAS CTNNB1 CDH1 CCND1 APC
35 basal cell nevus syndrome 30.8 TP53 MYC CTNNB1 CCND1
36 adenocarcinoma 30.8 TP53 PTGS2 MYC MSH6 MSH2 MLH1
37 skin carcinoma 30.8 TP53 PTGS2 MSH2 CTNNB1 CDH1 CCND1
38 thyroid gland anaplastic carcinoma 30.8 TP53 CTNNB1 CDH1 CCND1
39 duodenum cancer 30.8 TP53 MUTYH MSH6 MSH2 MLH1 KRAS
40 neurofibromatosis 30.8 MSH6 MSH2 MLH1 KRAS
41 childhood medulloblastoma 30.7 TP53 MYC CTNNB1 CCND1
42 barrett's adenocarcinoma 30.7 TP53 PTGS2 KRAS
43 teratoma 30.7 TP53 KRAS CTNNB1 CDH1
44 lynch syndrome 30.7 TP53 NTHL1 MUTYH MSH6 MSH3 MSH2
45 rectum adenocarcinoma 30.7 TP53 MYC MSH6 MSH2 MLH1 KRAS
46 mucoepidermoid carcinoma 30.7 TP53 CTNNB1 CDH1 CCND1
47 gastric adenocarcinoma 30.7 TP53 PTGS2 MYC MLH1 KRAS CTNNB1
48 ureteral obstruction 30.6 TP53 PTGS2 HNF4A CTNNB1
49 colorectal cancer, hereditary nonpolyposis, type 6 30.6 MUTYH MSH6 MSH2 MLH1
50 papillary adenocarcinoma 30.6 TP53 KRAS CDH1

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



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

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Human phenotypes related to Familial Adenomatous Polyposis:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 multiple gastric polyps 31 hallmark (90%) HP:0004394
2 duodenal polyposis 31 hallmark (90%) HP:0004783
3 adenomatous colonic polyposis 31 hallmark (90%) HP:0005227
4 colon cancer 31 frequent (33%) HP:0003003
5 multiple lipomas 31 occasional (7.5%) HP:0001012
6 delayed eruption of teeth 31 occasional (7.5%) HP:0000684
7 irregular hyperpigmentation 31 occasional (7.5%) HP:0007400
8 fibroma 31 occasional (7.5%) HP:0010614
9 odontoma 31 occasional (7.5%) HP:0011068
10 increased number of teeth 31 occasional (7.5%) HP:0011069
11 neoplasm of the central nervous system 31 occasional (7.5%) HP:0100006

UMLS symptoms related to Familial Adenomatous Polyposis:


abdominal pain, diarrhea

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.81 APC2 CCND1 CDH1 GSK3B HNF4A KRAS
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.65 MLH1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.65 MLH1 TP53
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.65 MLH1 MSH2 MSH3 MSH6 MUTYH NTHL1
5 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 APC AXIN1 GSK3B MCC MSH2

MGI Mouse Phenotypes related to Familial Adenomatous Polyposis:

45 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.54 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
2 behavior/neurological MP:0005386 10.41 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
3 homeostasis/metabolism MP:0005376 10.41 APC CCND1 CDH1 CTNNB1 GSK3B HNF4A
4 digestive/alimentary MP:0005381 10.38 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
5 mortality/aging MP:0010768 10.34 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
6 cardiovascular system MP:0005385 10.33 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
7 growth/size/body region MP:0005378 10.31 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
8 immune system MP:0005387 10.27 APC CCND1 CDH1 CTNNB1 GSK3B KRAS
9 integument MP:0010771 10.26 APC CCND1 CDH1 CTNNB1 KRAS MLH1
10 endocrine/exocrine gland MP:0005379 10.25 APC CCND1 CDH1 CTNNB1 GSK3B KRAS
11 neoplasm MP:0002006 10.25 APC CCND1 CDH1 CTNNB1 KRAS MLH1
12 embryo MP:0005380 10.21 APC AXIN1 CDH1 CTNNB1 HNF4A KRAS
13 craniofacial MP:0005382 10.18 APC AXIN1 CCND1 CTNNB1 GSK3B KRAS
14 nervous system MP:0003631 10.18 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
15 liver/biliary system MP:0005370 10.06 APC CTNNB1 GSK3B HNF4A KRAS MYC
16 normal MP:0002873 10.03 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
17 hearing/vestibular/ear MP:0005377 10 APC AXIN1 CTNNB1 KRAS MYC TP53
18 no phenotypic analysis MP:0003012 9.87 CDH1 CTNNB1 GSK3B KRAS MYC PTGS2
19 renal/urinary system MP:0005367 9.76 APC AXIN1 CTNNB1 GSK3B HNF4A KRAS
20 reproductive system MP:0005389 9.7 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
21 skeleton MP:0005390 9.32 APC AXIN1 CCND1 CTNNB1 GSK3B HNF4A
Sources

Drugs & Therapeutics for Familial Adenomatous Polyposis

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

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560 441411
2 Anti-Infective Agents Phase 4
3 Anti-Bacterial Agents Phase 4
4 Erythromycin Estolate Phase 4
5 Erythromycin stearate Phase 4
6 Erythromycin Ethylsuccinate Phase 4
7 Cyclooxygenase 2 Inhibitors Phase 4
8
Ursodeoxycholic acid Approved, Investigational Phase 2, Phase 3 128-13-2 31401
9
Celecoxib Approved, Investigational Phase 3 169590-42-5 2662
10
Loperamide Approved Phase 3 53179-11-6 3955
11 Omega 3 Fatty Acid Phase 3
12 Gastrointestinal Agents Phase 3
13 Antidiarrheals Phase 3
14
Turmeric Approved, Experimental, Investigational Phase 2
15
Metformin Approved Phase 2 657-24-9 14219 4091
16
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
17
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
18
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
19
Niclosamide Approved, Investigational, Vet_approved Phase 2 50-65-7 4477
20
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
21
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
22
Inulin Approved, Investigational, Nutraceutical Phase 2 9005-80-5 24763
23
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
24 Turmeric extract Phase 2
25 Retinol palmitate Phase 2
26 retinol Phase 2
27 Hypoglycemic Agents Phase 2
28 Antifungal Agents Phase 2
29 Antibiotics, Antitubercular Phase 2
30 Anthelmintics Phase 2
31
Liposomal doxorubicin Phase 2 31703
32 Protein Kinase Inhibitors Phase 2
33
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
34 Antineoplastic Agents, Immunological Phase 2
35 Raspberry Approved Phase 1
36
Bevacizumab Approved, Investigational Phase 1 216974-75-3
37
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
38
Triamcinolone Approved, Vet_approved Phase 1 124-94-7 31307
39 Mitogens Phase 1
40 Endothelial Growth Factors Phase 1
41 Angiogenesis Inhibitors Phase 1
42 Fibrinolytic Agents Phase 1
43 Platelet Aggregation Inhibitors Phase 1
44 Antipyretics Phase 1
45 Immunologic Factors Phase 1
46 Immunosuppressive Agents Phase 1
47 Hormone Antagonists Phase 1
48 Hormones Phase 1
49 glucocorticoids Phase 1
50 triamcinolone acetonide Phase 1

Interventional clinical trials:

(show top 50) (show all 96)
# Name Status NCT ID Phase Drugs
1 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-protocol is Identical to Study No. 0519-10-TLV- Minors' Adjusted Version Unknown status NCT02354560 Phase 4 Erythromycin
2 Erythromycin as a Novel Therapy Against Familial Adenomatous Polyposis and Sporadic Colorectal Cancer by APC Nonsense Mutation Readthrough. Unknown status NCT02175914 Phase 4 Erythromycin
3 A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Safety and Efficacy of Rofecoxib in Familial Adenomatous Polyposis (FAP) Terminated NCT00140894 Phase 4 MK0966; rofecoxib / Duration of Treatment: 24 weeks;Comparator: placebo / Duration of Treatment: 24 weeks
4 Efficiency of Ursodesoxycholic Acid in the Treatment of Duodenal Adenomas in Familial Adenomatous Polyposis Patients. URSOPAF Unknown status NCT00134758 Phase 2, Phase 3 Ursodeoxycholic acid;Placebo
5 Prevention of Progression of Duodenal Adenomas to Cancer in Patients With Familial Adenomatous Polyposis (FAP) Completed NCT00808743 Phase 2, Phase 3 Celecoxib;Ursodeoxycholic acid;Placebo
6 Phase III Trial of the Safety and Efficacy of Eflornithine Combined With Sulindac Compared to Eflornithine, Sulindac as Single Agents in Patients With Familial Adenomatous Polyposis Completed NCT01483144 Phase 3 Eflornithine;Eflornithine Placebo;Sulindac 150 MG;Sulindac placebo
7 A Two-Arm Chemoprevention Trial in Familial Adenomatous Polyposis (FAP) Coli Patients Using the Purified Free Fatty Acid, Eicosapentaenoic Acid Completed NCT00510692 Phase 2, Phase 3 Eicosapentanoic Acid (EPA);Placebo
8 Prevention of Sporadic Colorectal Adenomas With Celecoxib Completed NCT00005094 Phase 3 celecoxib
9 Clinical Approaches to Ileal Pouch Dysfunction Completed NCT00293553 Phase 3
10 The Effect of Berberine Hydrochloride in Familial Adenomatous Polyposis:a Prospective, Randomized, Double Blind, Placebo-controlled, Multicenter Clinical Trial Recruiting NCT03333265 Phase 2, Phase 3 100mg Berberine hydrochloride;300mg Berberine hydrochloride;Placebo Oral Tablet
11 Randomised, Double-blind, Placebo-controlled Study of the Efficacy, Safety and Tolerability of EPA-FFA Gastro-resistant Capsules, in Patients With Familial Adenomatous Polyposis (FAP) Recruiting NCT03806426 Phase 3 Eicosapentaenoic acid free fatty acid (EPA-FFA);Placebo
12 A Phase III Placebo-Controlled Trial Of Celecoxib In Genotype Positive Subjects With Familial Adenomatous Polyposis Terminated NCT00585312 Phase 3 Celecoxib;Placebo
13 Coxib-inhibition of Duodenal Polyp Growth in Familial Adenomatous Polyposis Terminated NCT00844727 Phase 2, Phase 3 Rofecoxib;placebo
14 Prospective Randomized Control Study on Effect of Post Operative Loperamide in Decreasing Readmission for Dehydration in Colorectal Patients After Diverting Ileostomies Terminated NCT02263365 Phase 3 Loperamide
15 A Randomized Phase III Trial of Low Dose Sulindac Combined With Eflornithine in Patients With Familial Adenomatous Polyposis (FAP) Withdrawn NCT01245816 Phase 3 Eflornithine plus Sulindac;Eflornithine plus Placebo;Sulindac plus Placebo
16 Chemoprevention of Duodenal Polyps in Familial Adenomatous Polyposis Withdrawn NCT00026468 Phase 2, Phase 3 exisulind
17 Adenoma-Carcinoma Sequence in the Ileal Pouch Anal Anastomosis in Patients With Familial Adenomatous Polyposis: Studies on Luminal and Mucosal Risk Factors and Chemoprevention Unknown status NCT00319007 Phase 2 Sulindac (drug);VSL#3 (probiotic);Inulin (probiotic)
18 Efficacy of Wholistic Turmeric Supplementation on Polyp Number and Size in Patients With Familial Adenomatous Polyposis A Randomized, Double Blinded, Placebo Controlled Study Unknown status NCT03061591 Phase 2
19 Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP) Completed NCT00641147 Phase 2 Curcumin
20 Genetic Events Leading to APC-Dependent Colon Cancer in High-Risk Families; a Clinical Trial of COX and EGFR Inhibition in Familial Polyposis Patients Completed NCT01187901 Phase 2 Erlotinib;Sulindac;Placebo A;Placebo B
21 Sirolimus for the Treatment of Severe Intestinal Polyposis in Patients With Familial Adenomatous Polyposis (FAP): a Pilot Study Completed NCT03095703 Phase 2 Sirolimus
22 Celecoxib In Biomarker Modulation Of Oral Precancerous Lesions: A Pilot Study Completed NCT00052611 Phase 2 Celecoxib
23 The Chemopreventive Effect of Metformin in Patients With Familial Adenomatous Polyposis: Double Blinded Randomized Controlled Study Recruiting NCT01725490 Phase 2 Metformin;Metformin;Placebo
24 Phase IIA Trial of Encapsulated Rapamycin (eRapa) to Prevent Progression in Familial Adenomatous Polyposis Patients Under Active Surveillance Recruiting NCT04230499 Phase 2 Encapsulated Rapamycin (eRapa)
25 The Chemopreventive Effect of Niclosamide in Patients With Familial Adenomatous Polyposis: Double Blinded Randomized Controlled Study Recruiting NCT04296851 Phase 2 Niclosamide;placebo
26 Doxorubicin Eluting Intra-arterial Embolization for Aggressive Desmoid Fibromatosis Recruiting NCT03966742 Phase 2
27 Phase II Trial of Weekly Erlotinib Dosing to Reduce Duodenal Polyp Burden Associated With Familial Adenomatous Polyposis Active, not recruiting NCT02961374 Phase 2 Erlotinib;Erlotinib Hydrochloride
28 Molecular Targeting of 15-LOX-1 for Apoptosis Induction in Human Colorectal Cancers Active, not recruiting NCT00503035 Phase 2 Celecoxib
29 Phase II Trial of the Gamma-Secretase Inhibitor PF-03084014 in Adults With Desmoid Tumors/Aggressive Fibromatosis Active, not recruiting NCT01981551 Phase 2 PF-03084014
30 Efficacy of Adding Trastuzumab to Standard Chemotherapy in Patients With Advanced HER2-negative Gastric Cancer and HER2 Positive Expression in Circulating Tumor Cells Not yet recruiting NCT04168931 Phase 2 Trastuzumab
31 A Two-Arm Phase II Chemoprevention Trial in Adenomatous Polyposis Coli Patients Terminated NCT00033371 Phase 2 Celecoxib;eflornithine
32 A Pilot Phase II Trial of Celecoxib in Patients With Grade 2 or 3 Endometrioid-type, Clear Cell, and Papillary Serous Uterine Cancers Terminated NCT00231829 Phase 2 Celecoxib
33 Use of Curcumin in the Lower Gastrointestinal Tract in Familial Adenomatous Polyposis (FAP) Patients Withdrawn NCT00248053 Phase 2 curcumin
34 A Pilot Study To Investigate the Biological Modulation of Familial Adenomatous Polyposis (FAP) by Lyophilized Black Raspberries Completed NCT00770991 Phase 1 Black raspberry (BRB) Slurry;Black Raspberry (BRB) Suppositories;Black Raspberry (BRB) Placebo Slurry
35 Visualization of a VEGF-targeted Near-Infrared Fluorescent Tracer in Patients With Familial Adenomatous Polyposis During Fluorescence Endoscopy A Single Center Pilot Intervention Study Completed NCT02113202 Phase 1 Bevacizumab-IRDye800CW
36 Phase I Pilot Toxicity/Methods Validation Study of Celecoxib in Genotype-Positive Children With Familial Adenomatous Polyposis Completed NCT00685568 Phase 1 celecoxib
37 A Pilot, Open-Label, Randomized, Crossover, Pharmacokinetic Study Of Enhanced Bioavailability Formulations Of Celecoxib In Healthy Volunteers Completed NCT00813241 Phase 1 celecoxib reference formulation;celecoxib test formulation A1;celecoxib test formulation B2;celecoxib test formulation C1
38 Study of Biochemical Markers to Determine the Acetylsalicylic Acid Chemopreventive Effect Through Antiplatelet Action Completed NCT02060396 Phase 1 Acetylsalicylic acid
39 A Phase 1b, Multicenter, Randomized, Blinded, Placebo-controlled Study to Evaluate the Efficacy of Guselkumab in Subjects With Familial Adenomatous Polyposis Recruiting NCT03649971 Phase 1 Guselkumab;Placebo
40 A Pilot Study of Intralesional Injection of Triamcinolone Acetonide for Desmoid Tumors Active, not recruiting NCT03627741 Phase 1 Triamcinolone Acetonide
41 Small Bowel Endoscopic Evaluation in Familial Adenomatous Polyposis: A Prospective Clinical, Immunopathologic and Molecular Analysis Unknown status NCT02656134
42 Prospective Multicentre Open Clinical Study to Assess the Safety Performance and Durability of the TIES® Transcutaneous Titanium Implant in Patients Requiring a Permanent Ileostomy Unknown status NCT03416023
43 Adenoma Detection Rate in Rectal Remnants of Familial Polyposis (FAP) Patients Using Standard (White Light), Auto-Fluorescence (AFI), Narrow Band Imaging (NBI) and Chromoscopic Endoscopy Unknown status NCT00253812
44 Familial Cancer Registry and DNA Bank Unknown status NCT02083224
45 Chemoprevention of Gastric Cancer by Intervention With Helicobacter Pylori and Cyclooxygenase Pathway Unknown status NCT00498134 Triple therapy for H. pylori infection;Cox-2 inhibitor
46 Telomeric Abnormalities in Benign and Malignant Colorectal Diseases by Fluorescent in Situ Hybridization Technique Unknown status NCT03208777
47 Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform. Unknown status NCT00154960
48 The 'SILVERMAN1' Trial Single Incision Laparoscopic Versus Existing Resection (Minimal Access) for Neoplasia Unknown status NCT01319890
49 Is Diverting Ileostomy Necessary in Stapled Ileoanal Pouch? Completed NCT01173250
50 Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes Completed NCT02198092

Search NIH Clinical Center for Familial Adenomatous Polyposis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


celecoxib

Cochrane evidence based reviews: adenomatous polyposis coli

Sources

Genetic Tests for Familial Adenomatous Polyposis

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Genetic tests related to Familial Adenomatous Polyposis:

# Genetic test Affiliating Genes
1 Familial Adenomatous Polyposis 29 APC
2 Familial Multiple Polyposis Syndrome 29
Sources

Anatomical Context for Familial Adenomatous Polyposis

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MalaCards organs/tissues related to Familial Adenomatous Polyposis:

40
Colon, Thyroid, Testes, Small Intestine, Bone, Breast, Skin
Sources

Publications for Familial Adenomatous Polyposis

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Articles related to Familial Adenomatous Polyposis:

(show top 50) (show all 6911)
# Title Authors PMID Year
1
Promoter methylation of sFRP5 in patients with ovarian clear cell adenocarcinoma. 61 54
20486992 2010
2
[Construction of a lentiviral vector of RNA interference against PPARS gene and the establishment of colon cancer cell line KM12C with stable knockdown of PPARdelta expression]. 61 54
20481327 2010
3
Vitamin D receptor ligands, adenomatous polyposis coli, and the vitamin D receptor FokI polymorphism collectively modulate beta-catenin activity in colon cancer cells. 61 54
20043299 2010
4
Deficiency of the LIM-only protein FHL2 reduces intestinal tumorigenesis in Apc mutant mice. 54 61
20442768 2010
5
Direct ubiquitination of beta-catenin by Siah-1 and regulation by the exchange factor TBL1. 61 54
20181957 2010
6
[Gardner fibroma: case report and discussion of a new soft tissue tumor entity]. 61 54
20063100 2010
7
Noncolonic cancer stem cells in bone marrow of colorectal cancer patients. 54 61
19183332 2010
8
APC gene mutations in Chinese familial adenomatous polyposis patients. 61 54
20333795 2010
9
[Detection of APC gene germline mutation in Chinese familial adenomatous polyposis by direct sequencing in combination with multiplex ligation-dependent probe amplification]. 61 54
20367965 2010
10
Gene hypermethylation in tumor tissue of advanced oral squamous cell carcinoma patients. 54 61
19665921 2009
11
Hypermethylation of APC promoter 1A is associated with moderate activation of Wnt signalling pathway in a subset of colorectal serrated adenomas. 61 54
19912361 2009
12
Intestinal adenoma formation and MYC activation are regulated by cooperation between MYB and Wnt signaling. 54 61
19609274 2009
13
[Effects of cyclooxygenase-2 and proliferating cell nuclear antigen on the onset and development of familial adenomatous polyposis]. 61 54
19895739 2009
14
Upregulation of human DNA binding protein A (dbpA) in gastric cancer cells. 54 61
19749785 2009
15
Methylated DAPK and APC promoter DNA detection in peripheral blood is significantly associated with apparent residual tumor and outcome. 54 61
19259700 2009
16
Expression and localisation of insulin receptor substrate 2 in normal intestine and colorectal tumours. Regulation by intestine-specific transcription factor CDX2. 54 61
19221108 2009
17
Reduced axin protein expression is associated with a poor prognosis in patients with squamous cell carcinoma of esophagus. 61 54
19582507 2009
18
Activator protein 2alpha suppresses intestinal tumorigenesis in the Apc(min) mouse. 61 54
19376641 2009
19
The COP9 signalosome mediates beta-catenin degradation by deneddylation and blocks adenomatous polyposis coli destruction via USP15. 61 54
19576224 2009
20
Expression of E-cadherin, beta-catenin and APC protein in canine colorectal tumours. 54 61
19661296 2009
21
Chemoresponsiveness associated with canonical molecular changes in colorectal adenocarcinomas. 54 61
19661324 2009
22
Promoter methylation in APC, RUNX3, and GSTP1 and mortality in prostate cancer patients. 61 54
19470943 2009
23
Host Wnt/beta-catenin pathway triggered by Helicobacter pylori correlates with regression of gastric intestinal metaplasia after H. pylori eradication. 61 54
19369517 2009
24
The presence of circulating total DNA and methylated genes is associated with circulating tumour cells in blood from breast cancer patients. 54 61
19367284 2009
25
Genetic predisposition and environmental risk factors to pancreatic cancer: A review of the literature. 54 61
19150414 2009
26
Microsatellite instability-low colorectal cancer acquires a KRAS mutation during the progression from Dukes' A to Dukes' B. 61 54
19147861 2009
27
High quality assessment of DNA methylation in archival tissues from colorectal cancer patients using quantitative high-resolution melting analysis. 54 61
19179456 2009
28
Loss of expression for the Wnt pathway components adenomatous polyposis coli and glycogen synthase kinase 3-beta in parathyroid carcinomas. 61 54
19148484 2009
29
Aberrant beta-catenin expression and adenomatous polyposis coli gene mutation in ameloblastoma and odontogenic carcinoma. 54 61
18486530 2009
30
Clonality, founder mutations, and field cancerization in human ulcerative colitis-associated neoplasia. 54 61
19103203 2009
31
The association of methylation in the promoter of APC and MGMT and the prognosis of Taiwanese CRC patients. 61 54
19309276 2009
32
Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis. 61 54
19279422 2009
33
Increased cyclooxygenase-2 expression in juvenile polyposis syndrome. 54 61
19124115 2009
34
Expression and significance of adenomatous polyposis coli, beta-catenin, E-cadherin and cyclin D1 in esophageal squamous cell carcinoma assessed by tissue microarray. 61 54
19448414 2009
35
The role of APC and beta-catenin in the aetiology of aggressive fibromatosis (desmoid tumors). 61 54
18722078 2009
36
COX-2 polymorphisms in patients with familial adenomatous polyposis. 54 61
19544971 2009
37
Different phenotype manifestation of familial adenomatous polyposis in families with APC mutation at codon 1309. 61 54
19728755 2009
38
Relative role of APC and MUTYH mutations in the pathogenesis of familial adenomatous polyposis. 54 61
19593690 2009
39
Label-free global serum proteomic profiling reveals novel celecoxib-modulated proteins in familial adenomatous polyposis patients. 54 61
19451089 2009
40
Correlation between beta-catenin widespread nuclear expression and matrix metalloproteinase-7 overexpression in sporadic desmoid tumors. 61 54
18715618 2008
41
Promoter hypermethylation leads to decreased APC mRNA expression in familial polyposis and sporadic colorectal tumours, but does not substitute for truncating mutations. 61 54
18977219 2008
42
A large novel deletion in the APC promoter region causes gene silencing and leads to classical familial adenomatous polyposis in a Manitoba Mennonite kindred. 61 54
18982352 2008
43
The ubiquitin-proteasome system in colorectal cancer. 54 61
18619533 2008
44
Adenomatous polyposis coli alteration in digestive endocrine tumours: correlation with nuclear translocation of beta-catenin and chromosomal instability. 61 54
18632876 2008
45
APC is essential for targeting phosphorylated beta-catenin to the SCFbeta-TrCP ubiquitin ligase. 54 61
19061640 2008
46
Report of a family segregating mutations in both the APC and MSH2 genes: juvenile onset of colorectal cancer in a double heterozygote. 54 61
18629513 2008
47
Down-regulation of DNMT3b in PC3 cells effects locus-specific DNA methylation, and represses cellular growth and migration. 54 61
18798999 2008
48
Vitamin D and Wnt/beta-catenin pathway in colon cancer: role and regulation of DICKKOPF genes. 61 54
19035286 2008
49
Immunohistochemical and molecular features of sporadic and FAP-associated duodenal adenomas of the ampullary and nonampullary mucosa. 61 54
18670349 2008
50
Suppression of familial adenomatous polyposis by CP-31398, a TP53 modulator, in APCmin/+ mice. 61 54
18794156 2008
Sources

Variations for Familial Adenomatous Polyposis

About this section

ClinVar genetic disease variations for Familial Adenomatous Polyposis:

6 (show top 50) (show all 191) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APC NM_000038.6(APC):c.889_890AC[2] (p.His298fs)short repeat Pathogenic 433615 rs1114167567 5:112151245-112151246 5:112815548-112815549
2 APC NM_000038.6(APC):c.1048_1141del (p.Ser350fs)deletion Pathogenic 433616 rs1554079988 5:112154776-112154869 5:112819079-112819172
3 APC NM_000038.6(APC):c.1213del (p.Arg405fs)deletion Pathogenic 433617 rs1554080070 5:112154941-112154941 5:112819244-112819244
4 APC NM_000038.6(APC):c.1343dup (p.Ala449fs)duplication Pathogenic 433618 rs1554080695 5:112157621-112157622 5:112821924-112821925
5 APC NM_000038.6(APC):c.1348_1349GT[5] (p.Leu453fs)short repeat Pathogenic 433619 rs1554080698 5:112157626-112157627 5:112821929-112821930
6 APC NM_000038.6(APC):c.1370C>A (p.Ser457Ter)SNV Pathogenic 433620 rs1060503333 5:112157650-112157650 5:112821953-112821953
7 APC NM_000038.6(APC):c.1409-1G>ASNV Pathogenic 433621 rs863225313 5:112162804-112162804 5:112827107-112827107
8 APC NM_000038.6(APC):c.1605_1606del (p.Glu536fs)deletion Pathogenic 433624 rs1554081906 5:112163682-112163683 5:112827985-112827986
9 APC NM_000038.6(APC):c.3827_3829delinsA (p.Ser1276fs)indel Pathogenic 433655 rs1554085335 5:112175118-112175120 5:112839421-112839423
10 APC NM_000038.6(APC):c.1766_1767dup (p.Ser590Ter)duplication Pathogenic 433626 rs1554083122 5:112170669-112170670 5:112834972-112834973
11 APC NM_000038.6(APC):c.1779G>A (p.Trp593Ter)SNV Pathogenic 433627 rs1554083132 5:112170683-112170683 5:112834986-112834986
12 APC NM_000038.6(APC):c.1787C>G (p.Ser596Ter)SNV Pathogenic 433628 rs1554083134 5:112170691-112170691 5:112834994-112834994
13 APC NM_000038.6(APC):c.1970_1971GA[2] (p.Asn659fs)short repeat Pathogenic 433630 rs863225322 5:112173260-112173261 5:112837563-112837564
14 APC NM_000038.6(APC):c.2093T>G (p.Leu698Ter)SNV Pathogenic 433631 rs137854582 5:112173384-112173384 5:112837687-112837687
15 APC NM_000038.6(APC):c.2186_2187insGCAGCTT (p.Met730fs)insertion Pathogenic 433632 rs1554083998 5:112173476-112173477 5:112837779-112837780
16 APC NM_000038.6(APC):c.2694del (p.His898fs)deletion Pathogenic 433633 rs1554084389 5:112173985-112173985 5:112838288-112838288
17 APC NM_000038.6(APC):c.2819del (p.Ser940fs)deletion Pathogenic 433635 rs1554084508 5:112174110-112174110 5:112838413-112838413
18 APC NM_000038.6(APC):c.2895_2896del (p.Asn965fs)deletion Pathogenic 433636 rs1554084576 5:112174185-112174186 5:112838488-112838489
19 APC NM_000038.6(APC):c.2938A>T (p.Lys980Ter)SNV Pathogenic 433637 rs1554084592 5:112174229-112174229 5:112838532-112838532
20 APC NM_000038.6(APC):c.2950G>T (p.Glu984Ter)SNV Pathogenic 433638 rs1254176854 5:112174241-112174241 5:112838544-112838544
21 APC NM_000038.6(APC):c.2995C>T (p.Gln999Ter)SNV Pathogenic 433639 rs75239284 5:112174286-112174286 5:112838589-112838589
22 APC NM_000038.6(APC):c.3028del (p.Ser1010fs)deletion Pathogenic 433640 rs1554084648 5:112174319-112174319 5:112838622-112838622
23 APC NM_000038.6(APC):c.3114_3115del (p.Gly1039fs)deletion Pathogenic 433642 rs1554084698 5:112174405-112174406 5:112838708-112838709
24 APC NM_000038.6(APC):c.3190G>T (p.Glu1064Ter)SNV Pathogenic 433643 rs1462312032 5:112174481-112174481 5:112838784-112838784
25 APC NM_000038.6(APC):c.3444_3447del (p.Glu1149fs)deletion Pathogenic 433644 rs1554085005 5:112174735-112174738 5:112839038-112839041
26 APC NM_000038.6(APC):c.3454C>T (p.Gln1152Ter)SNV Pathogenic 433645 rs1064795228 5:112174745-112174745 5:112839048-112839048
27 APC NM_000038.6(APC):c.3467_3470del (p.Glu1156fs)deletion Pathogenic 433646 rs1554085029 5:112174758-112174761 5:112839061-112839064
28 APC NM_000038.6(APC):c.3497_3501del (p.Lys1165_Tyr1166insTer)deletion Pathogenic 433647 rs1554085053 5:112174785-112174789 5:112839088-112839092
29 APC NM_000038.6(APC):c.3542T>A (p.Leu1181Ter)SNV Pathogenic 433648 rs1554085102 5:112174833-112174833 5:112839136-112839136
30 APC NM_000038.6(APC):c.3567dup (p.Ser1190fs)duplication Pathogenic 433649 rs1554085117 5:112174857-112174858 5:112839160-112839161
31 APC NM_000038.6(APC):c.3682C>T (p.Gln1228Ter)SNV Pathogenic 433650 rs1554085227 5:112174973-112174973 5:112839276-112839276
32 APC NM_000038.6(APC):c.3707_3708CA[1] (p.Gln1237fs)short repeat Pathogenic 433651 rs1554085246 5:112174998-112174999 5:112839301-112839302
33 APC NM_000038.6(APC):c.3725del (p.Gln1242fs)deletion Pathogenic 433652 rs1554085258 5:112175016-112175016 5:112839319-112839319
34 APC NM_000038.6(APC):c.3766C>T (p.Gln1256Ter)SNV Pathogenic 433653 rs77056664 5:112175057-112175057 5:112839360-112839360
35 APC NM_000038.6(APC):c.3786_3787del (p.Tyr1262_Cys1263delinsTer)deletion Pathogenic 433654 rs1554085307 5:112175077-112175078 5:112839380-112839381
36 APC NM_000038.6(APC):c.3901dup (p.Thr1301fs)duplication Pathogenic 433656 rs1554085382 5:112175191-112175192 5:112839494-112839495
37 APC NM_000038.6(APC):c.4060delinsAA (p.Phe1354fs)indel Pathogenic 433657 rs1554085479 5:112175351-112175351 5:112839654-112839654
38 APC NM_000038.6(APC):c.4241del (p.Val1414fs)deletion Pathogenic 433659 rs1554085659 5:112175532-112175532 5:112839835-112839835
39 APC NM_000038.6(APC):c.4353del (p.Val1452fs)deletion Pathogenic 433660 rs1554085817 5:112175643-112175643 5:112839946-112839946
40 APC NM_000038.6(APC):c.4384_4385del (p.Lys1462fs)deletion Pathogenic 433661 rs1554085846 5:112175673-112175674 5:112839976-112839977
41 APC NM_000038.6(APC):c.4405C>T (p.Gln1469Ter)SNV Pathogenic 433662 rs1060503288 5:112175696-112175696 5:112839999-112839999
42 APC NM_000038.6(APC):c.4645dup (p.Gln1549fs)duplication Pathogenic 433663 rs1554086036 5:112175934-112175935 5:112840237-112840238
43 APC NM_000038.6(APC):c.4660G>T (p.Glu1554Ter)SNV Pathogenic 433664 rs1392778905 5:112175951-112175951 5:112840254-112840254
44 APC NM_000038.6(APC):c.4671del (p.Ile1557fs)deletion Pathogenic 433665 rs1554086084 5:112175961-112175961 5:112840264-112840264
45 APC NM_000038.6(APC):c.4726G>T (p.Glu1576Ter)SNV Pathogenic 433666 rs1554086134 5:112176017-112176017 5:112840320-112840320
46 APC NM_000038.6(APC):c.4735_4736del (p.Ile1579fs)deletion Pathogenic 433667 rs1554086138 5:112176025-112176026 5:112840328-112840329
47 APC NM_000038.6(APC):c.4778_4781AGCC[1] (p.Ala1595fs)short repeat Pathogenic 433668 rs1554086196 5:112176069-112176072 5:112840372-112840375
48 APC NM_000038.6(APC):c.4953_4954del (p.Ser1652fs)deletion Pathogenic 433669 rs1554086327 5:112176242-112176243 5:112840545-112840546
49 APC NM_000038.6(APC):c.5017G>T (p.Glu1673Ter)SNV Pathogenic 433670 rs587779796 5:112176308-112176308 5:112840611-112840611
50 APC NM_000038.6(APC):c.5541del (p.Pro1848fs)deletion Pathogenic 433671 rs1554086805 5:112176832-112176832 5:112841135-112841135

Cosmic variations for Familial Adenomatous Polyposis:

9 (show top 50) (show all 747)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87925845 TP53 large intestine,colon,adenoma,NS c.733G>C p.G245R 17:7674230-7674230 12
2 COSM87902864 TP53 large intestine,colon,adenoma,NS c.641A>G p.H214R 17:7674890-7674890 12
3 COSM88223016 TP53 large intestine,colon,adenoma,NS c.391A>C p.N131H 17:7675221-7675221 12
4 COSM87898578 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 12
5 COSM88376117 TP53 large intestine,rectum,adenoma,NS c.853G>C p.E285Q 17:7673767-7673767 12
6 COSM87906123 TP53 large intestine,rectum,adenoma,NS c.432G>C p.Q144H 17:7675180-7675180 12
7 COSM87901765 TP53 large intestine,rectum,adenoma,NS c.734G>A p.G245D 17:7674229-7674229 12
8 COSM87927805 TP53 large intestine,rectum,adenoma,NS c.523C>G p.R175G 17:7675089-7675089 12
9 COSM87898818 TP53 large intestine,colon,adenoma,NS c.916C>T p.R306* 17:7673704-7673704 12
10 COSM87897745 TP53 large intestine,rectum,adenoma,NS c.524G>A p.R175H 17:7675088-7675088 12
11 COSM90693261 STK11 large intestine,rectum,adenoma,NS c.842C>T p.P281L 19:1221320-1221320 12
12 COSM90691966 STK11 large intestine,colon,adenoma,NS c.511G>A p.G171S 19:1220419-1220419 12
13 COSM91382025 SMAD4 large intestine,colon,adenoma,NS c.988G>C p.E330Q 18:51065455-51065455 12
14 COSM91397656 SMAD4 large intestine,colon,adenoma,NS c.1064A>C p.D355A 18:51065531-51065531 12
15 COSM91380674 SMAD4 large intestine,rectum,adenoma,NS c.1082G>A p.R361H 18:51065549-51065549 12
16 COSM86640829 RB1 large intestine,rectum,adenoma,NS c.1644A>C p.K548N 13:48381392-48381392 12
17 COSM97107772 NRAS large intestine,colon,adenoma,NS c.37G>C p.G13R 1:114716124-114716124 12
18 COSM97107359 NRAS large intestine,rectum,adenoma,NS c.182A>G p.Q61R 1:114713908-114713908 12
19 COSM85462709 MSH2 large intestine,colon,adenoma,NS c.589A>G p.K197E 2:47410316-47410316 12
20 COSM87804055 KRAS large intestine,rectum,adenoma,NS c.35G>T p.G12V 12:25245350-25245350 12
21 COSM87804068 KRAS large intestine,rectum,adenoma,NS c.34G>A p.G12S 12:25245351-25245351 12
22 COSM87804075 KRAS large intestine,colon,adenoma,NS c.34G>T p.G12C 12:25245351-25245351 12
23 COSM87804028 KRAS large intestine,colon,adenoma,NS c.38G>A p.G13D 12:25245347-25245347 12
24 COSM87804005 KRAS large intestine,colon,adenoma,NS c.35G>A p.G12D 12:25245350-25245350 12
25 COSM87808527 KRAS large intestine,rectum,adenoma,NS c.182A>T p.Q61L 12:25227342-25227342 12
26 COSM87805079 KRAS large intestine,rectum,adenoma,NS c.183A>C p.Q61H 12:25227341-25227341 12
27 COSM87804155 KRAS large intestine,rectum,adenoma,NS c.34G>C p.G12R 12:25245351-25245351 12
28 COSM87804083 KRAS large intestine,colon,adenoma,NS c.35G>C p.G12A 12:25245350-25245350 12
29 COSM87805356 KRAS large intestine,rectum,adenoma,NS c.183A>T p.Q61H 12:25227341-25227341 12
30 COSM93760866 GNAS large intestine,rectum,adenoma,NS c.2530C>T p.R844C 20:58909365-58909365 12
31 COSM141971230 FBXW7 large intestine,colon,adenoma,NS c.1558G>A p.D520N 4:152326092-152326092 12
32 COSM141953409 FBXW7 large intestine,rectum,adenoma,NS c.1513C>T p.R505C 4:152326137-152326137 12
33 COSM141953587 FBXW7 large intestine,colon,adenoma,NS c.832C>T p.R278* 4:152337831-152337831 12
34 COSM141954683 FBXW7 large intestine,rectum,adenoma,NS c.892C>T p.P298S 4:152332689-152332689 12
35 COSM141959845 FBXW7 large intestine,colon,adenoma,NS c.1514G>A p.R505H 4:152326136-152326136 12
36 COSM141953227 FBXW7 large intestine,colon,adenoma,NS c.1393C>T p.R465C 4:152328233-152328233 12
37 COSM141958901 FBXW7 large intestine,rectum,adenoma,NS c.1436G>T p.R479L 4:152326214-152326214 12
38 COSM141953665 FBXW7 large intestine,colon,adenoma,NS c.1394G>A p.R465H 4:152328232-152328232 12
39 COSM86757152 EGFR large intestine,colon,adenoma,NS c.1787C>T p.P596L 7:55165344-55165344 12
40 COSM150913542 CTNNB1 large intestine,colon,adenoma,NS c.134C>T p.S45F 3:41224646-41224646 12
41 COSM150913621 CTNNB1 large intestine,colon,adenoma,NS c.97T>C p.S33P 3:41224609-41224609 12
42 COSM150913795 CTNNB1 large intestine,rectum,adenoma,NS c.109T>C p.S37P 3:41224621-41224621 12
43 COSM150913536 CTNNB1 large intestine,colon,adenoma,NS c.121A>G p.T41A 3:41224633-41224633 12
44 COSM150913580 CTNNB1 large intestine,colon,adenoma,NS c.104T>G p.I35S 3:41224616-41224616 12
45 COSM150913727 CTNNB1 large intestine,colon,adenoma,NS c.101G>A p.G34E 3:41224613-41224613 12
46 COSM150913545 CTNNB1 large intestine,colon,adenoma,NS c.133T>C p.S45P 3:41224645-41224645 12
47 COSM150917416 CTNNB1 large intestine,colon,adenoma,NS c.490G>A p.D164N 3:41225202-41225202 12
48 COSM150563774 BRAF large intestine,colon,adenoma,NS c.1799T>A p.V600E 7:140753336-140753336 12
49 COSM150588026 BRAF large intestine,colon,adenoma,NS c.1357C>A p.P453T 7:140781651-140781651 12
50 COSM150567545 BRAF large intestine,colon,adenoma,NS c.1781A>G p.D594G 7:140753354-140753354 12
Sources

Expression for Familial Adenomatous Polyposis

About this section
Search GEO for disease gene expression data for Familial Adenomatous Polyposis.
Sources

Pathways for Familial Adenomatous Polyposis

About this section

Pathways related to Familial Adenomatous Polyposis according to KEGG:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310
2 Regulation of actin cytoskeleton hsa04810
3 Pathways in cancer hsa05200
4 Colorectal cancer hsa05210
5 Base excision repair hsa03410

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

(show top 50) (show all 85)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.89 TP53 PTGS2 MYC KRAS HNF4A GSK3B
2
DNA Double-Strand Break Repair 65
Show member pathways
 13.29 TP53 NTHL1 MUTYH MSH6 MSH3 MSH2
3
Parkinson disease 36
Show member pathways
 13.24 TP53 PTGS2 KRAS GSK3B CTNNB1 AXIN1
4
Toll-like Receptor Signaling Pathway 36 1
Show member pathways
 13.11 TP53 MYC KRAS GSK3B CTNNB1 CCND1
5
PI3K-Akt signaling pathway 36
Show member pathways
 13.07 TP53 PTGS2 MYC KRAS GSK3B CTNNB1
6
Human cytomegalovirus infection 36
Show member pathways
 13.02 TP53 PTGS2 MYC KRAS GSK3B CTNNB1
7
TCR Signaling (Qiagen) 63
Show member pathways
 13.02 TP53 PTGS2 NTHL1 MSH6 MSH3 MSH2
8
Aldosterone synthesis and secretion 36
Show member pathways
 12.99 KRAS GSK3B CTNNB1 CCND1 AXIN1 APC2
9
Development HGF signaling pathway 22
Show member pathways
 12.83 TP53 PTGS2 KRAS GSK3B CTNNB1 CDH1
10
Chks in Checkpoint Regulation 63
Show member pathways
 12.79 TP53 NTHL1 MYC MSH6 MSH3 MSH2
11
Glioma 36
Show member pathways
 12.74 TP53 MSH6 KRAS CDH1 CCND1
12
Gastric cancer 36
Show member pathways
 12.73 TP53 MYC MLH1 KRAS GSK3B CTNNB1
13
ErbB signaling pathway 36 1
Show member pathways
 12.69 TP53 MYC KRAS GSK3B CCND1
14
Immune response IL-23 signaling pathway 22
Show member pathways
 12.66 TP53 MYC MSH2 KRAS CTNNB1
15
MicroRNAs in cancer 36
12.65 TP53 PTGS2 MYC KRAS CCND1 APC2
16
DNA Damage 4
12.61 TP53 MUTYH MSH6 MSH2 MLH1 MAPRE1
17
Mesodermal Commitment Pathway 1
Show member pathways
 12.6 HNF4A CTNNB1 CCND1 AXIN1 APC
18
mTOR signaling pathway (KEGG) 36
Show member pathways
 12.58 TP53 KRAS GSK3B AXIN1 APC
19
VEGF Signaling 66
Show member pathways
 12.58 TP53 MYC KRAS CTNNB1 CDH1
20
Wnt signaling pathway 36
Show member pathways
 12.56 TP53 MYC GSK3B CTNNB1 CCND1 AXIN1
21
Endometrial cancer 36
Show member pathways
 12.55 TP53 MYC MSH6 MSH3 MSH2 MLH1
22
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.54 HNF4A GSK3B CTNNB1 AXIN1 APC
23
Cell cycle 36 1
12.49 TP53 MYC GSK3B CDH1 CCND1 APC
24
Apoptosis Pathway 70
Show member pathways
 12.48 TP53 KRAS GSK3B CTNNB1
25
Development VEGF signaling via VEGFR2 - generic cascades 22
Show member pathways
 12.45 PTGS2 KRAS GSK3B CTNNB1
26
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.45 KRAS GSK3B CTNNB1 CDH1 APC
27
Development IGF-1 receptor signaling 22
Show member pathways
 12.44 TP53 MYC GSK3B CCND1
28
Translation Non-genomic (rapid) action of Androgen Receptor 22
Show member pathways
 12.42 TP53 GSK3B CTNNB1 CCND1 AXIN1 APC2
29
Human T-cell leukemia virus 1 infection 36
12.39 TP53 MYC KRAS CCND1
30
Development EGFR signaling pathway 22
Show member pathways
 12.39 MYC KRAS CTNNB1 CDH1
31
Proteoglycans in cancer 36
12.39 TP53 MYC KRAS CTNNB1 CCND1
32
Development A3 receptor signaling 22
Show member pathways
 12.38 MYC GSK3B CTNNB1 CCND1
33
WNT Signaling 63
12.35 TP53 PTGS2 MYC HNF4A GSK3B CTNNB1
34
Wnt Signaling Pathway and Pluripotency 1
Show member pathways
 12.34 TP53 MYC GSK3B CTNNB1 CCND1 AXIN1
35
Wnt / Hedgehog / Notch 4
12.31 GSK3B CTNNB1 AXIN1 APC
36
MAPK Signaling: Mitogens 64
Show member pathways
 12.31 TP53 MYC KRAS GSK3B CCND1
37
Hippo signaling pathway 36
12.25 MYC GSK3B CTNNB1 CDH1 CCND1 AXIN1
38
Cellular senescence (KEGG) 36
12.23 TP53 MYC KRAS CCND1
39
Integrated Breast Cancer Pathway 1
12.22 TP53 MYC MSH6 MSH2 KRAS CTNNB1
40
Pathways in cancer 36
12.22 TP53 PTGS2 MYC MSH6 MSH3 MSH2
41
Presenilin-Mediated Signaling 63
12.21 GSK3B CTNNB1 CDH1 AXIN1 APC
42
Signaling pathways regulating pluripotency of stem cells 36
12.21 MYC KRAS GSK3B CTNNB1 AXIN1 APC2
43
Colorectal Cancer Metastasis 63
12.19 TP53 PTGS2 MYC MSH6 MSH3 MSH2
44
TGF-beta Signaling Pathway (WikiPathways) 1
12.15 TP53 MYC CCND1 AXIN1
45
Direct p53 effectors 1
12.14 TP53 MSH2 MLH1 APC
46
G12-G13 in Cellular Signaling 63
12.14 KRAS GSK3B CTNNB1 CDH1 AXIN1 APC
47
Thyroid hormone signaling pathway 36
12.13 TP53 MYC KRAS GSK3B CTNNB1 CCND1
48
Spinal Cord Injury 1
12.09 TP53 PTGS2 MYC CCND1
49
DNA Damage Response (only ATM dependent) 1
12.07 TP53 MYC KRAS GSK3B CTNNB1 CCND1
50
Interleukin-4 and 13 signaling 65
12.06 TP53 PTGS2 MYC CCND1
Sources

GO Terms for Familial Adenomatous Polyposis

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Cellular components related to Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.33 TP53 NTHL1 MYC MUTYH MSH6 MSH3
2 nucleoplasm GO:0005654 10.17 TP53 NTHL1 MYC MUTYH MSH6 MSH3
3 centrosome GO:0005813 9.92 TP53 MAPRE1 GSK3B CTNNB1 APC
4 lamellipodium GO:0030027 9.78 MCC CTNNB1 CDH1 APC
5 lateral plasma membrane GO:0016328 9.71 CTNNB1 CDH1 AXIN1 APC
6 cytoplasmic microtubule GO:0005881 9.67 MAPRE1 APC2 APC
7 catenin complex GO:0016342 9.56 CTNNB1 CDH1 APC2 APC
8 Wnt signalosome GO:1990909 9.54 GSK3B CTNNB1 APC
9 flotillin complex GO:0016600 9.51 CTNNB1 CDH1
10 MutSbeta complex GO:0032302 9.43 MSH3 MSH2
11 MutSalpha complex GO:0032301 9.33 MSH6 MSH3 MSH2
12 mismatch repair complex GO:0032300 9.26 MSH6 MSH3 MSH2 MLH1
13 beta-catenin destruction complex GO:0030877 9.02 GSK3B CTNNB1 AXIN1 APC2 APC

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

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.1 TP53 MYC HNF4A CTNNB1 CDH1 AXIN1
2 negative regulation of apoptotic process GO:0043066 10.09 TP53 PTGS2 MYC GSK3B CTNNB1
3 positive regulation of gene expression GO:0010628 10.08 TP53 MYC KRAS GSK3B CTNNB1
4 negative regulation of cell proliferation GO:0008285 10.06 TP53 PTGS2 HNF4A CTNNB1 APC
5 DNA repair GO:0006281 10.02 NTHL1 MUTYH MSH6 MSH3 MSH2 MLH1
6 cytokine-mediated signaling pathway GO:0019221 9.99 TP53 PTGS2 MYC KRAS CCND1
7 in utero embryonic development GO:0001701 9.97 TP53 MYC MSH2 CTNNB1
8 response to drug GO:0042493 9.93 TP53 PTGS2 MYC CTNNB1 CDH1 CCND1
9 cell cycle arrest GO:0007050 9.91 TP53 MYC MSH2 APC
10 negative regulation of canonical Wnt signaling pathway GO:0090090 9.89 MCC GSK3B AXIN1 APC2 APC
11 response to estradiol GO:0032355 9.88 PTGS2 MYC CTNNB1 CCND1
12 response to glucocorticoid GO:0051384 9.84 PTGS2 KRAS CCND1
13 positive regulation of protein catabolic process GO:0045732 9.84 GSK3B AXIN1 APC2 APC
14 cellular response to UV GO:0034644 9.82 TP53 PTGS2 MYC
15 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.81 MSH6 MSH2 MLH1
16 Wnt signaling pathway GO:0016055 9.8 MCC GSK3B CTNNB1 CCND1 AXIN1 APC2
17 regulation of cell differentiation GO:0045595 9.79 CTNNB1 APC2 APC
18 cell fate specification GO:0001708 9.78 CTNNB1 APC2 APC
19 response to X-ray GO:0010165 9.74 TP53 MSH2 CCND1
20 determination of adult lifespan GO:0008340 9.73 TP53 MSH6 MSH2
21 negative regulation of DNA recombination GO:0045910 9.7 MSH6 MSH3 MSH2
22 isotype switching GO:0045190 9.69 MSH6 MSH2 MLH1
23 ovulation GO:0030728 9.68 PTGS2 MYC
24 ER overload response GO:0006983 9.68 TP53 GSK3B
25 positive regulation of isotype switching to IgG isotypes GO:0048304 9.68 MSH2 MLH1
26 regulation of microtubule-based process GO:0032886 9.67 GSK3B APC
27 entry of bacterium into host cell GO:0035635 9.66 CTNNB1 CDH1
28 mitotic G1 DNA damage checkpoint GO:0031571 9.65 TP53 CCND1
29 positive regulation of protein localization to centrosome GO:1904781 9.65 GSK3B APC
30 re-entry into mitotic cell cycle GO:0000320 9.65 MYC CCND1
31 somatic hypermutation of immunoglobulin genes GO:0016446 9.65 MSH6 MSH2 MLH1
32 cellular response to indole-3-methanol GO:0071681 9.63 CTNNB1 CDH1
33 positive regulation of isotype switching to IgA isotypes GO:0048298 9.63 MSH2 MLH1
34 beta-catenin destruction complex disassembly GO:1904886 9.62 GSK3B CTNNB1 AXIN1 APC
35 positive regulation of helicase activity GO:0051096 9.61 MSH6 MSH3 MSH2
36 meiotic mismatch repair GO:0000710 9.6 MSH6 MSH3
37 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.58 MSH2 MLH1
38 beta-catenin destruction complex assembly GO:1904885 9.58 GSK3B AXIN1 APC
39 mismatch repair GO:0006298 9.55 MUTYH MSH6 MSH3 MSH2 MLH1
40 maintenance of DNA repeat elements GO:0043570 9.54 MSH6 MSH3 MSH2
41 cellular response to DNA damage stimulus GO:0006974 9.32 TP53 NTHL1 MYC MUTYH MSH6 MSH3
42 somatic recombination of immunoglobulin gene segments GO:0016447 9.26 MSH6 MSH3 MSH2 MLH1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.46 TP53 PTGS2 NTHL1 MYC MUTYH MSH6
2 protein homodimerization activity GO:0042803 10.04 PTGS2 MSH6 MSH3 MSH2 HNF4A AXIN1
3 chromatin binding GO:0003682 10 TP53 MSH6 MSH2 MLH1 HNF4A CTNNB1
4 protein kinase binding GO:0019901 9.97 TP53 MSH2 MAPRE1 GSK3B CTNNB1 CCND1
5 double-stranded DNA binding GO:0003690 9.85 NTHL1 MYC MSH6 MSH2
6 RNA polymerase II transcription factor binding GO:0001085 9.75 TP53 GSK3B CTNNB1
7 DNA-dependent ATPase activity GO:0008094 9.73 MSH6 MSH3 MSH2
8 beta-catenin binding GO:0008013 9.73 GSK3B CTNNB1 CDH1 AXIN1 APC2 APC
9 gamma-catenin binding GO:0045295 9.65 CDH1 APC2 APC
10 mismatched DNA binding GO:0030983 9.62 MSH6 MSH3 MSH2 MLH1
11 MutLalpha complex binding GO:0032405 9.61 MUTYH MSH6 MSH2
12 enzyme binding GO:0019899 9.61 TP53 PTGS2 MSH6 MSH3 MSH2 MLH1
13 I-SMAD binding GO:0070411 9.6 CTNNB1 AXIN1
14 DNA N-glycosylase activity GO:0019104 9.59 NTHL1 MUTYH
15 MutSalpha complex binding GO:0032407 9.58 MUTYH MLH1
16 single guanine insertion binding GO:0032142 9.58 MSH6 MSH3 MSH2
17 dinucleotide insertion or deletion binding GO:0032139 9.54 MSH3 MSH2
18 dinucleotide repeat insertion binding GO:0032181 9.51 MSH3 MSH2
19 single thymine insertion binding GO:0032143 9.49 MSH6 MSH2
20 oxidized purine DNA binding GO:0032357 9.46 MUTYH MSH6 MSH3 MSH2
21 guanine/thymine mispair binding GO:0032137 8.92 MSH6 MSH3 MSH2 MLH1
Sources

Sources for Familial Adenomatous Polyposis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
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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