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FAP
MCID: FML011
MIFTS: 71

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 73 20 43 36 54 15
Adenomatous Polyposis Coli 20 43 44 70
Familial Multiple Polyposis Syndrome 43 29 6
Adenomatous Polyposis of the Colon 12 20
Familial Intestinal Polyposis 20 70
Fap 20 43
Familial Adenomatous Polyposis of the Colon 20
Adenomatous Familial Polyposis Syndrome 43
Polyposis, Adenomatous Intestinal 20
Familial Polyposis of the Colon 20
Adenomatous Polyposis, Familial 39
Adenomatous Familial Polyposis 43
Familial Multiple Polyposis 20
Hereditary Polyposis Coli 20
Mutyh-Associate Polyposis 70
Myh-Associated Polyposis 43
Familial Polyposis Coli 20
Fpc 20

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 44 D011125
NCIt 50 C3339
SNOMED-CT 67 72900001
UMLS 70 C0032580 C2713443 C3272841
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Summaries for Familial Adenomatous Polyposis

About this section
MedlinePlus Genetics : 43 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 familial adenomatous polyposis 2 and attenuated familial adenomatous 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 Azithromycin have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and small intestine, 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.

GARD : 20 Familial adenomatous polyposis (FAP) leads to the growth of hundreds to thousands of non-cancerous (benign) polyps in the colon and rectum. Overtime, the polyps can become cancerous (malignant), leading to colorectal cancer at an average age of 39 years. Symptoms of FAP may include dental abnormalities, tumors of the connective tissue ( desmoid tumors ), and benign and malignant tumors of the duodenum (a section of the small intestine), liver, bones, skin, and other tissues. Attenuated familial adenomatous polyposis (AFAP) is a milder form of FAP which includes fewer colon polyps (an average of 30). People with AFAP have an increased risk of developing colon cancer at a later age than classic FAP. FAP is due to genetic variants in the APC gene and is inherited in an autosomal dominant pattern. FAP is diagnosed based on the symptoms, clinical examination, and may be confirmed by the results of genetic testing. Management for FAP includes regular colon screening with endoscopy and other methods. Total removal of the colon (colectomy) is usually recommended to substantially reduce the risk for colon cancer. The recommended timing of surgery is based on multiple factors.

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 : 73 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 682)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 2 33.4 PTGS2 MUTYH MLH1 APC
2 attenuated familial adenomatous polyposis 33.3 NTHL1 MUTYH MSH6 MSH2 APC
3 myh-associated polyposis 33.0 MUTYH MSH2 KRAS APC
4 desmoid tumor 32.9 PTGS2 MUTYH CTNNB1 CCND1 APC
5 mismatch repair cancer syndrome 1 32.4 MSH6 MSH2 MLH1 CTNNB1 APC
6 hepatoblastoma 32.1 TP53 MYC HNF4A CTNNB1 CDH1 CCND1
7 breast ductal carcinoma 32.1 TP53 SMAD4 CTNNB1 CDH1 CCND1
8 ulcerative colitis 31.7 SMAD4 MSH6 MSH2 MLH1 CTNNB1
9 rectum cancer 31.7 MUTYH MSH6 MSH2 MLH1 KRAS APC
10 medulloblastoma 31.6 TP53 PTGS2 MYC MSH6 GSK3B CTNNB1
11 colitis 31.6 SMAD4 PTGS2 MSH6 MSH2 MLH1 CTNNB1
12 hereditary nonpolyposis colon cancer 31.6 MUTYH MSH6 MSH2 MLH1
13 adenoma 31.5 TP53 SMAD4 PTGS2 MUTYH MSH6 MSH2
14 duodenum cancer 31.4 TP53 SMAD4 MUTYH MSH6 MSH2 MLH1
15 mismatch repair cancer syndrome 31.4 MSH6 MSH2 MLH1
16 colorectal adenoma 31.2 TP53 PTGS2 MYC MUTYH MSH2 MLH1
17 duodenum adenocarcinoma 31.2 MSH6 MSH2 MLH1 KRAS
18 familial colorectal cancer 31.2 TP53 MUTYH MSH2 MLH1 CDH1 APC
19 periampullary adenoma 31.1 MSH6 KRAS APC
20 in situ carcinoma 31.0 TP53 MYC CTNNB1 CDH1 CCND1
21 jejunal cancer 31.0 MUTYH MSH6 MSH2 MLH1
22 colonic disease 31.0 TP53 KRAS CTNNB1 APC
23 microcystic stromal tumor 30.9 CTNNB1 CCND1
24 peutz-jeghers syndrome 30.9 TP53 SMAD4 CTNNB1 APC
25 lynch syndrome 30.9 TP53 SMAD4 MUTYH MSH6 MSH3 MSH2
26 villous adenoma 30.9 TP53 MLH1 KRAS APC
27 jejunal adenocarcinoma 30.8 MUTYH MSH6 MLH1
28 gastric cancer 30.8 TP53 SMAD4 PTGS2 MYC MUTYH MSH6
29 ascending colon cancer 30.8 MSH2 MLH1 KRAS
30 microinvasive gastric cancer 30.8 TP53 MLH1 CDH1
31 colon adenoma 30.7 SMAD4 KRAS CTNNB1 APC
32 neurofibromatosis 30.7 MSH6 MSH2 MLH1 KRAS
33 adenocarcinoma 30.7 TP53 SMAD4 PTGS2 MYC MSH6 MSH2
34 ameloblastoma 30.7 TP53 KRAS CTNNB1
35 parathyroid carcinoma 30.7 CTNNB1 CCND1 APC
36 gastric adenocarcinoma 30.7 TP53 SMAD4 PTGS2 MLH1 KRAS CTNNB1
37 serrated polyposis syndrome 30.7 MUTYH KRAS APC
38 hemangioma 30.7 TP53 MYC KRAS CTNNB1
39 oral submucous fibrosis 30.6 TP53 PTGS2 CDH1
40 pilomatrixoma 30.6 MUTYH CTNNB1 AXIN1
41 rectum adenocarcinoma 30.6 TP53 MYC MSH6 MSH2 MLH1 KRAS
42 skin benign neoplasm 30.6 MSH6 MSH2 MLH1
43 muir-torre syndrome 30.6 TP53 MUTYH MSH6 MSH3 MSH2 MLH1
44 acinar cell carcinoma 30.6 TP53 SMAD4 CTNNB1
45 basal cell nevus syndrome 30.6 TP53 MYC CTNNB1 CCND1
46 thyroid gland anaplastic carcinoma 30.6 TP53 CTNNB1 CDH1 CCND1
47 lynch syndrome i 30.5 MSH6 MSH2 MLH1
48 peripheral nervous system disease 30.5 TP53 PTGS2 MYC CTNNB1 CCND1
49 childhood medulloblastoma 30.5 TP53 MYC CTNNB1 CCND1
50 mucoepidermoid carcinoma 30.5 TP53 CTNNB1 CDH1 CCND1

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 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-1 10.13 MLH1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.13 SMAD4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.13 SMAD4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.13 MLH1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.13 APC
6 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.13 APC
7 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.13 MLH1 SMAD4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.13 MLH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.13 APC
10 Increased shRNA abundance (Z-score > 2) GR00366-A-212 10.13 SMAD4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.13 SMAD4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.13 SMAD4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.13 CTNNB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.13 MLH1
15 Reduced mammosphere formation GR00396-S 9.85 APC2 CCND1 CDH1 GSK3B HNF4A KRAS
16 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.65 MLH1
17 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.65 MLH1 TP53
18 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.65 MLH1 MSH2 MSH3 MSH6 MUTYH NTHL1
19 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 APC AXIN1 GSK3B MSH2 SMAD4

MGI Mouse Phenotypes related to Familial Adenomatous Polyposis:

46 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.57 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
2 behavior/neurological MP:0005386 10.48 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
3 homeostasis/metabolism MP:0005376 10.47 APC CCND1 CDH1 CTNNB1 GSK3B HNF4A
4 digestive/alimentary MP:0005381 10.42 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
5 mortality/aging MP:0010768 10.39 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
6 cardiovascular system MP:0005385 10.38 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
7 growth/size/body region MP:0005378 10.36 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
8 endocrine/exocrine gland MP:0005379 10.34 APC CCND1 CDH1 CTNNB1 GSK3B HNF4A
9 immune system MP:0005387 10.34 APC CCND1 CDH1 CTNNB1 GSK3B KRAS
10 integument MP:0010771 10.32 APC CCND1 CDH1 CTNNB1 KRAS MLH1
11 neoplasm MP:0002006 10.28 APC CCND1 CDH1 CTNNB1 KRAS MLH1
12 embryo MP:0005380 10.27 APC AXIN1 CDH1 CTNNB1 HNF4A KRAS
13 craniofacial MP:0005382 10.24 APC AXIN1 CCND1 CTNNB1 GSK3B KRAS
14 nervous system MP:0003631 10.21 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
15 liver/biliary system MP:0005370 10.13 APC CTNNB1 GSK3B HNF4A KRAS MYC
16 limbs/digits/tail MP:0005371 10.04 APC AXIN1 CTNNB1 KRAS MYC SMAD4
17 muscle MP:0005369 10.03 APC CTNNB1 GSK3B KRAS MYC PTGS2
18 normal MP:0002873 10.03 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
19 no phenotypic analysis MP:0003012 9.87 CDH1 CTNNB1 GSK3B KRAS MYC PTGS2
20 renal/urinary system MP:0005367 9.81 APC AXIN1 CTNNB1 GSK3B HNF4A KRAS
21 reproductive system MP:0005389 9.73 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
22 skeleton MP:0005390 9.32 APC AXIN1 CCND1 CTNNB1 GSK3B KRAS
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 all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560
2
Azithromycin Approved Phase 4 83905-01-5 447043 55185
3
Rofecoxib Approved, Investigational, Withdrawn Phase 4 162011-90-7 5090
4 Gastrointestinal Agents Phase 4
5 Erythromycin stearate Phase 4
6 Erythromycin Estolate Phase 4
7 Erythromycin Ethylsuccinate Phase 4
8 Anti-Bacterial Agents Phase 4
9 Cyclooxygenase 2 Inhibitors Phase 4
10
Ursodeoxycholic acid Approved, Investigational Phase 2, Phase 3 128-13-2 31401
11
Celecoxib Approved, Investigational Phase 3 169590-42-5 2662
12 Omega 3 Fatty Acid Phase 3
13
Metformin Approved Phase 2 657-24-9 4091 14219
14
Turmeric Approved, Experimental, Investigational Phase 2
15
Niclosamide Approved, Investigational, Vet_approved Phase 2 50-65-7 4477
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 6436030 5284616
19
Inulin Approved, Investigational, Nutraceutical Phase 2 9005-80-5 24763
20
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 11103-57-4 445354
21 Hypoglycemic Agents Phase 2
22 Anti-Infective Agents Phase 2
23 Turmeric extract Phase 2
24 retinol Phase 2
25 Retinol palmitate Phase 2
26 Anthelmintics Phase 2
27 Antibiotics, Antitubercular Phase 2
28 Immunosuppressive Agents Phase 2
29 Immunologic Factors Phase 2
30 Antifungal Agents Phase 2
31
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
32 Protein Kinase Inhibitors Phase 2
33
Bevacizumab Approved, Investigational Phase 1 216974-75-3
34 Raspberry Approved Phase 1
35 Angiogenesis Inhibitors Phase 1
36 Mitogens Phase 1
37 Antineoplastic Agents, Immunological Phase 1
38 Endothelial Growth Factors Phase 1
39
Mineral oil Approved, Vet_approved 8042-47-5
40
Polyestradiol phosphate Approved Early Phase 1 28014-46-2
41
Estradiol Approved, Investigational, Vet_approved Early Phase 1 50-28-2 5757
42 Antibodies
43 Immunoglobulins
44 Hormone Antagonists Early Phase 1
45 Hormones Early Phase 1
46 Estradiol 17 beta-cypionate Early Phase 1
47 Estradiol 3-benzoate Early Phase 1
48 Fluorides Early Phase 1
49 Estrogens Early Phase 1
50 Antibodies, Monoclonal

Interventional clinical trials:

(show top 50) (show all 64)
# 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 Azithromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Not yet recruiting NCT04454151 Phase 4 Azithromycin Tablets
4 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
5 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
6 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
7 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
8 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
9 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
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 A Phase III Placebo-Controlled Trial Of Celecoxib In Genotype Positive Subjects With Familial Adenomatous Polyposis Terminated NCT00585312 Phase 3 Celecoxib;Placebo
12 Coxib-inhibition of Duodenal Polyp Growth in Familial Adenomatous Polyposis Terminated NCT00844727 Phase 2, Phase 3 Rofecoxib;placebo
13 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
14 Chemoprevention of Duodenal Polyps in Familial Adenomatous Polyposis Withdrawn NCT00026468 Phase 2, Phase 3 exisulind
15 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)
16 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
17 The Chemopreventive Effect of Metformin in Patients With Familial Adenomatous Polyposis: Double Blinded Randomized Controlled Study Unknown status NCT01725490 Phase 2 Metformin;Metformin;Placebo
18 Sirolimus for the Treatment of Severe Intestinal Polyposis in Patients With Familial Adenomatous Polyposis (FAP): a Pilot Study Completed NCT03095703 Phase 2 Sirolimus
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 A Two-Arm Phase II Chemoprevention Trial in Adenomatous Polyposis Coli Patients Completed NCT00033371 Phase 2 Celecoxib;eflornithine
22 The Chemopreventive Effect of Niclosamide in Patients With Familial Adenomatous Polyposis: Double Blinded Randomized Controlled Study Recruiting NCT04296851 Phase 2 Niclosamide;placebo
23 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)
24 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
25 Molecular Targeting of 15-LOX-1 for Apoptosis Induction in Human Colorectal Cancers Active, not recruiting NCT00503035 Phase 2 Celecoxib
26 Use of Curcumin in the Lower Gastrointestinal Tract in Familial Adenomatous Polyposis (FAP) Patients Withdrawn NCT00248053 Phase 2 curcumin
27 Phase I Pilot Toxicity/Methods Validation Study of Celecoxib in Genotype-Positive Children With Familial Adenomatous Polyposis Completed NCT00685568 Phase 1 celecoxib
28 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
29 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
30 A Phase 1b, Multicenter, Randomized, Blinded, Placebo-controlled Study to Evaluate the Efficacy of Guselkumab in Subjects With Familial Adenomatous Polyposis Active, not recruiting NCT03649971 Phase 1 Guselkumab;Placebo
31 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
32 Small Bowel Endoscopic Evaluation in Familial Adenomatous Polyposis: A Prospective Clinical, Immunopathologic and Molecular Analysis Unknown status NCT02656134
33 Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes Completed NCT02198092
34 Vanderbilt Hereditary Colorectal Cancer Registry Completed NCT00675636
35 Preventive Anti-inflammatory Diet to Reduce Gastro-intestinal Inflammation in FAP Patients: a Prospective Pilot Study Completed NCT04552405
36 Use of Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP) Completed NCT00927485 Calcumin (Curcumin)
37 Multimedia Intervention in Patients With Familial Adenomatous Polyposis (FAP) Completed NCT00525655
38 Endoscopic Evaluation of Duodenal Polyposis in Patients With Familial Adenomatous Polyposis (FAP) - a Single Center Prospective Validation of the Spigelman Classification Completed NCT03346980
39 In Modern Era, Recurrent Desmoids Determine Outcome in Patients With Gardner Syndrome: A Cohort Study of Three Generations of an Adenomatous Polyposis Coli (APC-) Mutation-Positive Family Across 30 Years Completed NCT01286662
40 Is Diverting Ileostomy Necessary in Stapled Ileoanal Pouch? Completed NCT01173250
41 Single Incision Laparoscopic Surgery (SILS) for Colorectal Disease - A Novel Approach Completed NCT01656746
42 Endoscopic Papillectomy for Ampullary Adenomas: an Italian Single Centre Experience Completed NCT03494543
43 Diagnosis and Treatment of Russian Patients With MutYH-associated Polyposis Recruiting NCT03847532
44 Non-Surgical Management of Attenuated and Deleterious (Classical) Familial Adenomatous Polyposis: A Long-term Surveillance Program Recruiting NCT02747862
45 A Personalized Surveillance and Intervention Protocol for Duodenal and Gastric Polyposis in Patients With Familial Adenomatous Polyposis Recruiting NCT04677998
46 A Personalized Surveillance and Intervention Protocol for Patients With Familial Adenomatous Polyposis That Have Undergone (Procto)Colectomy Recruiting NCT04678011
47 Cold Snare Polypectomy for Duodenal Adenomas in Familial Adenomatous Polyposis Recruiting NCT03471403
48 The Value of Objective Perfusion Rate Assessment by Near-infrared Fluorescence During Restorative Ileal Pouch Formation and Ileal-pouch-anal Anastomosis Recruiting NCT04695964
49 The Value of Subjective Near-infrared Fluorescence Guidance in Assessment of Perfusion During Restorative Ileal Pouch Formation and Ileal-pouch-anal Anastomosis Recruiting NCT04695184
50 Objective Perfusion Rate Assessment of Gastrointestinal Anastomoses by Inflow and Outflow Analysis of Near-infrared Fluorescence Agents Recruiting NCT04709445

Search NIH Clinical Center for Familial Adenomatous Polyposis

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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 Multiple Polyposis Syndrome 29 APC
Sources

Anatomical Context for Familial Adenomatous Polyposis

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MalaCards organs/tissues related to Familial Adenomatous Polyposis:

40
Colon, Thyroid, Small Intestine, Breast, Pancreas, Prostate, Brain
Sources

Publications for Familial Adenomatous Polyposis

About this section

Articles related to Familial Adenomatous Polyposis:

(show top 50) (show all 7106)
# Title Authors PMID Year
1
Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families. 61 54 6
18433509 2008
2
Somatic APC mosaicism: an underestimated cause of polyposis coli. 6 54 61
17604324 2008
3
Cyclooxygenase-2 and platelet-derived growth factor receptors as potential targets in treating aggressive fibromatosis. 6 54 61
17785554 2007
4
Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. 6 54 61
16134147 2005
5
Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis. 61 6 54
14523376 2004
6
Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation. 54 61 6
10094547 1999
7
Alternative genetic pathways in colorectal carcinogenesis. 6 54 61
9342373 1997
8
Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families. 6 54 61
8118461 1994
9
Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 61 6 54
1316610 1992
10
Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis. 6 61
31113927 2019
11
Age- and Gender-Specific Risk of Thyroid Cancer in Patients With Familial Adenomatous Polyposis. 61 6
27623068 2016
12
Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. 61 6
26446593 2016
13
Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis. 6 61
26138249 2015
14
High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations. 6 61
25604157 2015
15
Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families. 6 61
25941542 2015
16
Clinical characterization and mutation spectrum in Hispanic families with adenomatous polyposis syndromes. 61 6
23460355 2013
17
Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families. 61 6
22987206 2013
18
APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. 61 6
23159591 2013
19
A survey of APC mutations in Quebec. 6 61
21779980 2011
20
Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis. 61 6
21643010 2011
21
Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. 61 6
20924072 2011
22
Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype. 61 6
21110124 2011
23
APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis. 61 6
20564245 2010
24
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 61 6
20685668 2010
25
Allele-specific expression of APC in adenomatous polyposis families. 6 61
20434453 2010
26
Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients. 61 6
20649969 2010
27
APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations. 6 61
19444466 2009
28
The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations. 6 61
19701947 2009
29
APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. 6 61
19793053 2009
30
Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? 6 61
19531215 2009
31
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review. 61 6
19196998 2009
32
APC gene mutations causing familial adenomatous polyposis in Polish patients. 61 6
19029688 2008
33
Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations. 61 6
17963004 2007
34
Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review. 61 6
17568392 2007
35
Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects. 61 6
17411426 2007
36
Singapore familial adenomatous polyposis (FAP) patients with classical adenomatous polyposis but undetectable APC mutations have accelerated cancer progression. 61 6
17026565 2006
37
Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation. 61 6
16461775 2006
38
An unexpected Cowden syndrome case found among members of a large familial adenomatous polyposis kindred. 61 6
16292097 2005
39
Mutation spectrum of the APC gene in 83 Korean FAP families. 6 61
16088911 2005
40
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 61 6
20223039 2005
41
Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients. 61 6
15833136 2005
42
Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis. 61 6
15689459 2005
43
A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history. 6 61
15951963 2005
44
APC germ-line mutations in southern Spanish patients with familial adenomatous polyposis: genotype-phenotype correlations and identification of eight novel mutations. 6 61
15857185 2005
45
Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene. 6 61
15459959 2004
46
Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization. 6 61
15300853 2004
47
Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. 61 6
15300576 2004
48
Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP). 61 6
15108286 2004
49
First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations. 6 61
15108288 2004
50
Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations. 61 6
15024739 2004
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Variations for Familial Adenomatous Polyposis

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ClinVar genetic disease variations for Familial Adenomatous Polyposis:

6 (show top 50) (show all 209)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APC NM_000038.6(APC):c.1548G>C (p.Lys516Asn) SNV Pathogenic 246087 rs879254090 GRCh37: 5:112162944-112162944
GRCh38: 5:112827247-112827247
2 APC NM_000038.6(APC):c.203T>G (p.Leu68Ter) SNV Pathogenic 433597 rs1554069549 GRCh37: 5:112102090-112102090
GRCh38: 5:112766393-112766393
3 APC NM_000038.6(APC):c.2895_2896del (p.Asn965fs) Deletion Pathogenic 433636 rs1554084576 GRCh37: 5:112174185-112174186
GRCh38: 5:112838488-112838489
4 APC NM_000038.6(APC):c.562C>T (p.Gln188Ter) SNV Pathogenic 224515 rs869312753 GRCh37: 5:112116517-112116517
GRCh38: 5:112780820-112780820
5 APC NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) Deletion Pathogenic 88913 rs587779352 GRCh37: 5:112174471-112174475
GRCh38: 5:112838774-112838778
6 APC NM_000038.6(APC):c.5541del (p.Pro1848fs) Deletion Pathogenic 433671 rs1554086805 GRCh37: 5:112176832-112176832
GRCh38: 5:112841135-112841135
7 APC NM_000038.6(APC):c.667C>T (p.Gln223Ter) SNV Pathogenic 433610 rs1554074738 GRCh37: 5:112128164-112128164
GRCh38: 5:112792467-112792467
8 APC NM_000038.6(APC):c.1343dup (p.Ala449fs) Duplication Pathogenic 433618 rs1554080695 GRCh37: 5:112157621-112157622
GRCh38: 5:112821924-112821925
9 APC NM_000038.6(APC):c.4353del (p.Val1452fs) Deletion Pathogenic 433660 rs1554085817 GRCh37: 5:112175643-112175643
GRCh38: 5:112839946-112839946
10 APC NM_000038.5(APC):c.-85-?_-19+?del Deletion Pathogenic 433562 GRCh37:
GRCh38:
11 APC NM_000038.6(APC):c.423-1G>A SNV Pathogenic 835 rs397514031 GRCh37: 5:112111325-112111325
GRCh38: 5:112775628-112775628
12 APC NM_000038.5(APC):c.423-?_729+?del Deletion Pathogenic 433568 GRCh37:
GRCh38:
13 APC NM_000038.6(APC):c.2093T>G (p.Leu698Ter) SNV Pathogenic 433631 rs137854582 GRCh37: 5:112173384-112173384
GRCh38: 5:112837687-112837687
14 APC NM_000038.5(APC):c.1-?_1408+?del Deletion Pathogenic 433565 GRCh37: 5:112090588-112157688
GRCh38:
15 APC NM_000038.6(APC):c.1766_1767dup (p.Ser590Ter) Duplication Pathogenic 433626 rs1554083122 GRCh37: 5:112170669-112170670
GRCh38: 5:112834972-112834973
16 APC NM_000038.6(APC):c.4645dup (p.Gln1549fs) Duplication Pathogenic 433663 rs1554086036 GRCh37: 5:112175934-112175935
GRCh38: 5:112840237-112840238
17 APC NM_000038.6(APC):c.2995C>T (p.Gln999Ter) SNV Pathogenic 433639 rs75239284 GRCh37: 5:112174286-112174286
GRCh38: 5:112838589-112838589
18 APC NM_000038.6(APC):c.3707_3708CA[1] (p.Gln1237fs) Microsatellite Pathogenic 433651 rs1554085246 GRCh37: 5:112174998-112174999
GRCh38: 5:112839301-112839302
19 APC NM_000038.6(APC):c.2570del (p.Gly857fs) Deletion Pathogenic 230263 rs876658472 GRCh37: 5:112173860-112173860
GRCh38: 5:112838163-112838163
20 APC NM_000038.6(APC):c.1213del (p.Arg405fs) Deletion Pathogenic 433617 rs1554080070 GRCh37: 5:112154941-112154941
GRCh38: 5:112819244-112819244
21 APC NM_000038.6(APC):c.1886T>G (p.Leu629Ter) SNV Pathogenic 429049 rs1019221239 GRCh37: 5:112170790-112170790
GRCh38: 5:112835093-112835093
22 APC NM_000038.6(APC):c.3901dup (p.Thr1301fs) Duplication Pathogenic 433656 rs1554085382 GRCh37: 5:112175191-112175192
GRCh38: 5:112839494-112839495
23 APC NM_000038.6(APC):c.492_495del (p.Asn164fs) Deletion Pathogenic 433603 rs1554071590 GRCh37: 5:112111395-112111398
GRCh38: 5:112775698-112775701
24 APC NM_000038.6(APC):c.4671del (p.Ile1557fs) Deletion Pathogenic 433665 rs1554086084 GRCh37: 5:112175961-112175961
GRCh38: 5:112840264-112840264
25 APC NM_000038.6(APC):c.147_150del (p.Lys49fs) Deletion Pathogenic 141368 rs587781694 GRCh37: 5:112102032-112102035
GRCh38: 5:112766335-112766338
26 APC NM_000038.6(APC):c.3766C>T (p.Gln1256Ter) SNV Pathogenic 433653 rs77056664 GRCh37: 5:112175057-112175057
GRCh38: 5:112839360-112839360
27 APC NM_000038.6(APC):c.1956C>T (p.His652=) SNV Pathogenic 419202 rs1064793716 GRCh37: 5:112170860-112170860
GRCh38: 5:112835163-112835163
28 APC NM_000038.6(APC):c.4778_4781AGCC[1] (p.Ala1595fs) Microsatellite Pathogenic 433668 rs1554086196 GRCh37: 5:112176069-112176072
GRCh38: 5:112840372-112840375
29 APC NM_000038.6(APC):c.1409-1G>A SNV Pathogenic 433621 rs863225313 GRCh37: 5:112162804-112162804
GRCh38: 5:112827107-112827107
30 APC NM_000038.6(APC):c.2677G>T (p.Glu893Ter) SNV Pathogenic 419997 rs199740875 GRCh37: 5:112173968-112173968
GRCh38: 5:112838271-112838271
31 APC NM_000038.5(APC):c.2155-?_3960+?del Deletion Pathogenic 433571 GRCh37: 5:112173446-112175251
GRCh38:
32 APC NM_000038.6(APC):c.3444_3447del (p.Glu1149fs) Deletion Pathogenic 433644 rs1554085005 GRCh37: 5:112174735-112174738
GRCh38: 5:112839038-112839041
33 APC NM_000038.6(APC):c.889_890AC[2] (p.His298fs) Microsatellite Pathogenic 433615 rs1114167567 GRCh37: 5:112151245-112151246
GRCh38: 5:112815548-112815549
34 APC NM_000038.6(APC):c.458del (p.Lys153fs) Deletion Pathogenic 433601 rs1554071521 GRCh37: 5:112111358-112111358
GRCh38: 5:112775661-112775661
35 APC NM_000038.6(APC):c.8416C>G (p.Pro2806Ala) SNV Pathogenic 135726 rs587780608 GRCh37: 5:112179707-112179707
GRCh38: 5:112844010-112844010
36 APC NM_000038.6(APC):c.839C>G (p.Ser280Ter) SNV Pathogenic 799 rs137854569 GRCh37: 5:112151196-112151196
GRCh38: 5:112815499-112815499
37 APC NM_000038.6(APC):c.3542T>A (p.Leu1181Ter) SNV Pathogenic 433648 rs1554085102 GRCh37: 5:112174833-112174833
GRCh38: 5:112839136-112839136
38 APC NM_000038.6(APC):c.994C>T (p.Arg332Ter) SNV Pathogenic 184937 rs775126020 GRCh37: 5:112154723-112154723
GRCh38: 5:112819026-112819026
39 APC NM_000038.6(APC):c.2938A>T (p.Lys980Ter) SNV Pathogenic 433637 rs1554084592 GRCh37: 5:112174229-112174229
GRCh38: 5:112838532-112838532
40 APC NM_000038.6(APC):c.1657del (p.Trp553fs) Deletion Pathogenic 428155 rs1114167594 GRCh37: 5:112164582-112164582
GRCh38: 5:112828885-112828885
41 APC NM_000038.6(APC):c.5017G>T (p.Glu1673Ter) SNV Pathogenic 433670 rs587779796 GRCh37: 5:112176308-112176308
GRCh38: 5:112840611-112840611
42 APC NM_000038.6(APC):c.325G>T (p.Glu109Ter) SNV Pathogenic 433599 rs1414406816 GRCh37: 5:112102990-112102990
GRCh38: 5:112767293-112767293
43 APC NM_000038.6(APC):c.4384_4385del (p.Lys1462fs) Deletion Pathogenic 433661 rs1554085846 GRCh37: 5:112175673-112175674
GRCh38: 5:112839976-112839977
44 APC NM_000038.6(APC):c.532-8G>A SNV Pathogenic 411469 rs1060503323 GRCh37: 5:112116479-112116479
GRCh38: 5:112780782-112780782
45 APC NM_000038.6(APC):c.4060delinsAA (p.Phe1354fs) Indel Pathogenic 433657 rs1554085479 GRCh37: 5:112175351-112175351
GRCh38: 5:112839654-112839654
46 APC NM_000038.6(APC):c.220+2T>A SNV Pathogenic 141515 rs587781809 GRCh37: 5:112102109-112102109
GRCh38: 5:112766412-112766412
47 APC NM_000038.6(APC):c.2105G>A (p.Gly702Glu) SNV Pathogenic 229944 rs876658289 GRCh37: 5:112173396-112173396
GRCh38: 5:112837699-112837699
48 APC NM_000038.6(APC):c.1958+1G>A SNV Pathogenic 428125 rs1114167569 GRCh37: 5:112170863-112170863
GRCh38: 5:112835166-112835166
49 APC NM_000038.6(APC):c.594dup (p.Ala199fs) Duplication Pathogenic 433607 rs1554072616 GRCh37: 5:112116547-112116548
GRCh38: 5:112780850-112780851
50 APC NM_000038.6(APC):c.3028del (p.Ser1010fs) Deletion Pathogenic 433640 rs1554084648 GRCh37: 5:112174319-112174319
GRCh38: 5:112838622-112838622

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 COSM93183877 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 9
2 COSM121879912 TP53 large intestine,rectum,adenoma,NS c.338G>A p.G113D 17:7674229-7674229 9
3 COSM144013587 TP53 large intestine,rectum,adenoma,NS c.700G>A p.G234S 17:7674230-7674230 9
4 COSM142564162 TP53 large intestine,colon,adenoma,NS c.524A>G p.H175R 17:7674890-7674890 9
5 COSM144314088 TP53 large intestine,colon,adenoma,NS c.-87A>C p.? 17:7675221-7675221 9
6 COSM144651337 TP53 large intestine,rectum,adenoma,NS c.616G>A p.G206S 17:7674230-7674230 9
7 COSM144104972 TP53 large intestine,colon,adenoma,NS c.256G>C p.G86R 17:7674230-7674230 9
8 COSM144654651 TP53 large intestine,rectum,adenoma,NS c.617G>A p.G206D 17:7674229-7674229 9
9 COSM122567711 TP53 large intestine,colon,adenoma,NS c.-6A>C p.? 17:7675221-7675221 9
10 COSM121876212 TP53 large intestine,colon,adenoma,NS c.337G>A p.G113S 17:7674230-7674230 9
11 COSM143943997 TP53 large intestine,colon,adenoma,NS c.256G>A p.G86S 17:7674230-7674230 9
12 COSM145017865 TP53 large intestine,colon,adenoma,NS c.616G>A p.G206S 17:7674230-7674230 9
13 COSM143156960 TP53 large intestine,rectum,adenoma,NS c.256G>A p.G86S 17:7674230-7674230 9
14 COSM106077247 TP53 large intestine,rectum,adenoma,NS c.523C>G p.R175G 17:7675089-7675089 9
15 COSM111758775 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 9
16 COSM145021980 TP53 large intestine,colon,adenoma,NS c.524A>G p.H175R 17:7674890-7674890 9
17 COSM106455733 TP53 large intestine,rectum,adenoma,NS c.853G>C p.E285Q 17:7673767-7673767 9
18 COSM112253807 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 9
19 COSM121902539 TP53 large intestine,rectum,adenoma,NS c.127C>G p.R43G 17:7675089-7675089 9
20 COSM145282365 TP53 large intestine,colon,adenoma,NS c.274A>C p.N92H 17:7675221-7675221 9
21 COSM144947428 TP53 large intestine,colon,adenoma,NS c.274A>C p.N92H 17:7675221-7675221 9
22 COSM122271749 TP53 large intestine,rectum,adenoma,NS c.337G>A p.G113S 17:7674230-7674230 9
23 COSM142560476 TP53 large intestine,colon,adenoma,NS c.616G>A p.G206S 17:7674230-7674230 9
24 COSM144106262 TP53 large intestine,rectum,adenoma,NS c.46C>G p.R16G 17:7675089-7675089 9
25 COSM142559914 TP53 large intestine,rectum,adenoma,NS c.407G>A p.R136H 17:7675088-7675088 9
26 COSM142855508 TP53 large intestine,rectum,adenoma,NS c.523C>G p.R175G 17:7675089-7675089 9
27 COSM122759329 TP53 large intestine,rectum,adenoma,NS c.127C>G p.R43G 17:7675089-7675089 9
28 COSM93184097 TP53 large intestine,colon,adenoma,NS c.916C>T p.R306* 17:7673704-7673704 9
29 COSM144351508 TP53 large intestine,colon,adenoma,NS c.820G>C p.E274Q 17:7673767-7673767 9
30 COSM143162350 TP53 large intestine,rectum,adenoma,NS c.-46G>C p.? 17:7675180-7675180 9
31 COSM122291262 TP53 large intestine,colon,adenoma,NS c.457G>C p.E153Q 17:7673767-7673767 9
32 COSM121881087 TP53 large intestine,colon,adenoma,NS c.245A>G p.H82R 17:7674890-7674890 9
33 COSM143371076 TP53 large intestine,colon,adenoma,NS c.616G>A p.G206S 17:7674230-7674230 9
34 COSM142837497 TP53 large intestine,rectum,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 9
35 COSM93183307 TP53 large intestine,rectum,adenoma,NS c.524G>A p.R175H 17:7675088-7675088 9
36 COSM143946806 TP53 large intestine,rectum,adenoma,NS c.257G>A p.G86D 17:7674229-7674229 9
37 COSM143175784 TP53 large intestine,colon,adenoma,NS c.256G>C p.G86R 17:7674230-7674230 9
38 COSM87925845 TP53 large intestine,colon,adenoma,NS c.733G>C p.G245R 17:7674230-7674230 9
39 COSM144329826 TP53 large intestine,rectum,adenoma,NS c.406C>G p.R136G 17:7675089-7675089 9
40 COSM87902864 TP53 large intestine,colon,adenoma,NS c.641A>G p.H214R 17:7674890-7674890 9
41 COSM142854442 TP53 large intestine,colon,adenoma,NS c.733G>C p.G245R 17:7674230-7674230 9
42 COSM122734486 TP53 large intestine,colon,adenoma,NS c.520C>T p.R174* 17:7673704-7673704 9
43 COSM93566065 TP53 large intestine,colon,adenoma,NS c.853G>C p.E285Q 17:7673767-7673767 9
44 COSM122271907 TP53 large intestine,colon,adenoma,NS c.520C>T p.R174* 17:7673704-7673704 9
45 COSM144016541 TP53 large intestine,rectum,adenoma,NS c.701G>A p.G234D 17:7674229-7674229 9
46 COSM143210532 TP53 large intestine,colon,adenoma,NS c.853G>C p.E285Q 17:7673767-7673767 9
47 COSM112024216 TP53 large intestine,colon,adenoma,NS c.391A>C p.N131H 17:7675221-7675221 9
48 COSM144087350 TP53 large intestine,colon,adenoma,NS c.439C>T p.R147* 17:7673704-7673704 9
49 COSM144309944 TP53 large intestine,rectum,adenoma,NS c.407G>A p.R136H 17:7675088-7675088 9
50 COSM144650780 TP53 large intestine,rectum,adenoma,NS c.407G>A p.R136H 17:7675088-7675088 9
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Expression for Familial Adenomatous Polyposis

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

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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 95)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.91 TP53 SMAD4 PTGS2 MYC KRAS HNF4A
2
Pathways of neurodegeneration - multiple diseases 36
Show member pathways
 13.54 TP53 PTGS2 KRAS GSK3B CTNNB1 AXIN1
3
DNA Double-Strand Break Repair 65
Show member pathways
 13.29 TP53 NTHL1 MUTYH MSH6 MSH3 MSH2
4
Toll-like Receptor Signaling Pathway 36 1
Show member pathways
 13.28 TP53 SMAD4 MYC KRAS GSK3B CTNNB1
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
 13.04 TP53 PTGS2 MYC KRAS GSK3B CTNNB1
7
TCR Signaling (Qiagen) 63
Show member pathways
 13.03 TP53 PTGS2 NTHL1 MSH6 MSH3 MSH2
8
Aldosterone synthesis and secretion 36
Show member pathways
 13 KRAS GSK3B CTNNB1 CCND1 AXIN1 APC2
9
Deubiquitination 65
Show member pathways
 12.89 TP53 SMAD4 MYC AXIN1 APC
10
Development HGF signaling pathway 23
Show member pathways
 12.83 TP53 PTGS2 KRAS GSK3B CTNNB1 CDH1
11
Chks in Checkpoint Regulation 63
Show member pathways
 12.81 TP53 NTHL1 MYC MSH6 MSH3 MSH2
12
Glioma 36
Show member pathways
 12.76 TP53 MSH6 KRAS CDH1 CCND1
13
ErbB signaling pathway 36 1
Show member pathways
 12.7 TP53 MYC KRAS GSK3B CCND1
14
Gastric cancer 36
Show member pathways
 12.7 TP53 SMAD4 MYC MLH1 KRAS GSK3B
15
Immune response IL-23 signaling pathway 23
Show member pathways
 12.67 TP53 MYC MSH2 KRAS CTNNB1
16
MicroRNAs in cancer 36
12.66 TP53 PTGS2 MYC KRAS CCND1 APC2
17
Mesodermal Commitment Pathway 1
Show member pathways
 12.64 SMAD4 HNF4A CTNNB1 CCND1 AXIN1 APC
18
DNA Damage 4
12.63 TP53 MUTYH MSH6 MSH2 MLH1 MAPRE1
19
VEGF Signaling 66
Show member pathways
 12.62 TP53 SMAD4 MYC KRAS CTNNB1 CDH1
20
mTOR signaling pathway (KEGG) 36
Show member pathways
 12.6 TP53 KRAS GSK3B AXIN1 APC
21
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.59 SMAD4 HNF4A GSK3B CTNNB1 AXIN1 APC
22
Endometrial cancer 36
Show member pathways
 12.58 TP53 SMAD4 MYC MSH6 MSH3 MSH2
23
WNT Signaling 63
12.55 TP53 PTGS2 MYC HNF4A GSK3B CTNNB1
24
Apoptosis Pathway 69
Show member pathways
 12.5 TP53 KRAS GSK3B CTNNB1
25
Cell cycle 36 1
12.48 TP53 SMAD4 MYC GSK3B CDH1 CCND1
26
Development VEGF signaling via VEGFR2 - generic cascades 23
Show member pathways
 12.46 PTGS2 KRAS GSK3B CTNNB1
27
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.46 KRAS GSK3B CTNNB1 CDH1 APC
28
Development IGF-1 receptor signaling 23
Show member pathways
 12.45 TP53 MYC GSK3B CCND1
29
Human T-cell leukemia virus 1 infection 36
12.44 TP53 SMAD4 MYC KRAS CCND1
30
Translation Non-genomic (rapid) action of Androgen Receptor 23
Show member pathways
 12.43 TP53 GSK3B CTNNB1 CCND1 AXIN1 APC2
31
Development ERBB-family signaling 23
Show member pathways
 12.42 MYC KRAS CTNNB1 CDH1
32
Proteoglycans in cancer 36
12.41 TP53 MYC KRAS CTNNB1 CCND1
33
Development A3 receptor signaling 23
Show member pathways
 12.39 MYC GSK3B CTNNB1 CCND1
34
Wnt / Hedgehog / Notch 4
12.35 SMAD4 GSK3B CTNNB1 AXIN1 APC
35
Wnt Signaling Pathway and Pluripotency 1
Show member pathways
 12.35 TP53 MYC GSK3B CTNNB1 CCND1 AXIN1
36
MAPK Signaling: Mitogen Stimulation Pathway 64
Show member pathways
 12.32 TP53 MYC KRAS GSK3B CCND1
37
Wnt signaling pathway 36
12.31 TP53 SMAD4 MYC GSK3B CTNNB1 CCND1
38
Cell cycle Role of SCF complex in cell cycle regulation 23
Show member pathways
 12.3 SMAD4 MYC GSK3B CCND1
39
Signaling pathways regulating pluripotency of stem cells 36
12.25 SMAD4 MYC KRAS GSK3B CTNNB1 AXIN1
40
Hippo signaling pathway 36
12.25 SMAD4 MYC GSK3B CTNNB1 CDH1 CCND1
41
Pathways in cancer 36
12.25 TP53 SMAD4 PTGS2 MYC MSH6 MSH3
42
Cellular senescence (KEGG) 36
12.24 TP53 MYC KRAS CCND1
43
Presenilin-Mediated Signaling 63
12.23 GSK3B CTNNB1 CDH1 AXIN1 APC
44
Colorectal Cancer Metastasis 63
12.22 TP53 SMAD4 PTGS2 MYC MSH6 MSH3
45
Integrated Breast Cancer Pathway 1
12.21 TP53 SMAD4 MYC MSH6 MSH2 KRAS
46
TGF-beta Signaling Pathway (WikiPathways) 1
12.2 TP53 SMAD4 MYC CCND1 AXIN1
47
Apelin signaling pathway 36
12.17 SMAD4 KRAS CDH1 CCND1
48
G12-G13 in Cellular Signaling 63
12.16 KRAS GSK3B CTNNB1 CDH1 AXIN1 APC
49
Direct p53 effectors 1
12.15 TP53 MSH2 MLH1 APC
50
Thyroid hormone signaling pathway 36
12.14 TP53 MYC KRAS GSK3B CTNNB1 CCND1
Sources

GO Terms for Familial Adenomatous Polyposis

About this section

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.31 TP53 SMAD4 PTGS2 NTHL1 MYC MUTYH
2 nucleoplasm GO:0005654 10.1 TP53 SMAD4 NTHL1 MYC MUTYH MSH6
3 centrosome GO:0005813 9.93 TP53 SMAD4 MAPRE1 GSK3B CTNNB1 APC
4 cytoplasmic microtubule GO:0005881 9.67 MAPRE1 APC2 APC
5 lateral plasma membrane GO:0016328 9.67 CTNNB1 CDH1 AXIN1 APC
6 flotillin complex GO:0016600 9.51 CTNNB1 CDH1
7 Wnt signalosome GO:1990909 9.5 GSK3B CTNNB1 APC
8 MutSalpha complex GO:0032301 9.48 MSH6 MSH2
9 catenin complex GO:0016342 9.46 CTNNB1 CDH1 APC2 APC
10 MutSbeta complex GO:0032302 9.43 MSH3 MSH2
11 mismatch repair complex GO:0032300 9.26 MSH6 MSH3 MSH2 MLH1
12 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 41)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.11 TP53 SMAD4 MYC HNF4A CTNNB1 CDH1
2 positive regulation of gene expression GO:0010628 10.08 TP53 MYC KRAS GSK3B CTNNB1
3 negative regulation of cell proliferation GO:0008285 10.05 TP53 SMAD4 PTGS2 HNF4A CTNNB1 APC
4 DNA repair GO:0006281 10.01 NTHL1 MUTYH MSH6 MSH3 MSH2 MLH1
5 cytokine-mediated signaling pathway GO:0019221 9.99 TP53 PTGS2 MYC KRAS CCND1
6 in utero embryonic development GO:0001701 9.97 TP53 SMAD4 MSH2 CTNNB1
7 regulation of cell proliferation GO:0042127 9.96 TP53 SMAD4 PTGS2 CTNNB1
8 negative regulation of canonical Wnt signaling pathway GO:0090090 9.95 GSK3B AXIN1 APC2 APC
9 response to drug GO:0042493 9.93 TP53 PTGS2 MYC CTNNB1 CDH1 CCND1
10 cell cycle arrest GO:0007050 9.91 TP53 MYC MSH2 APC
11 Wnt signaling pathway GO:0016055 9.91 GSK3B CTNNB1 CCND1 AXIN1 APC2 APC
12 response to organic substance GO:0010033 9.86 PTGS2 CDH1 CCND1
13 response to glucocorticoid GO:0051384 9.83 PTGS2 KRAS CCND1
14 positive regulation of protein catabolic process GO:0045732 9.83 GSK3B AXIN1 APC2 APC
15 cellular response to UV GO:0034644 9.82 TP53 PTGS2 MYC
16 regulation of cell differentiation GO:0045595 9.81 CTNNB1 APC2 APC
17 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.79 MSH6 MSH2 MLH1
18 branching involved in ureteric bud morphogenesis GO:0001658 9.79 SMAD4 MYC CTNNB1
19 cell fate specification GO:0001708 9.77 CTNNB1 APC2 APC
20 response to X-ray GO:0010165 9.73 TP53 MSH2 CCND1
21 determination of adult lifespan GO:0008340 9.72 TP53 MSH6 MSH2
22 negative regulation of DNA recombination GO:0045910 9.69 MSH6 MSH3 MSH2
23 ER overload response GO:0006983 9.68 TP53 GSK3B
24 regulation of microtubule-based process GO:0032886 9.68 GSK3B APC
25 positive regulation of isotype switching to IgG isotypes GO:0048304 9.67 MSH2 MLH1
26 mitotic G1 DNA damage checkpoint GO:0031571 9.67 TP53 CCND1
27 isotype switching GO:0045190 9.67 MSH6 MSH2 MLH1
28 entry of bacterium into host cell GO:0035635 9.65 CTNNB1 CDH1
29 positive regulation of protein localization to centrosome GO:1904781 9.65 GSK3B APC
30 somatic hypermutation of immunoglobulin genes GO:0016446 9.65 MSH6 MSH2 MLH1
31 cellular response to indole-3-methanol GO:0071681 9.63 CTNNB1 CDH1
32 positive regulation of isotype switching to IgA isotypes GO:0048298 9.63 MSH2 MLH1
33 meiotic mismatch repair GO:0000710 9.62 MSH6 MSH3
34 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.58 MSH2 MLH1
35 positive regulation of helicase activity GO:0051096 9.58 MSH6 MSH3 MSH2
36 beta-catenin destruction complex disassembly GO:1904886 9.56 GSK3B CTNNB1 AXIN1 APC
37 mismatch repair GO:0006298 9.55 MUTYH MSH6 MSH3 MSH2 MLH1
38 beta-catenin destruction complex assembly GO:1904885 9.54 GSK3B AXIN1 APC
39 maintenance of DNA repeat elements GO:0043570 9.5 MSH6 MSH3 MSH2
40 cellular response to DNA damage stimulus GO:0006974 9.32 TP53 NTHL1 MYC MUTYH MSH6 MSH3
41 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 10.56 TP53 SMAD4 PTGS2 NTHL1 MYC MUTYH
2 DNA binding GO:0003677 10.24 TP53 SMAD4 NTHL1 MYC MUTYH MSH6
3 protein homodimerization activity GO:0042803 10.07 SMAD4 PTGS2 MSH6 MSH3 MSH2 HNF4A
4 chromatin binding GO:0003682 10 TP53 SMAD4 MSH6 MSH2 MLH1 HNF4A
5 protein kinase binding GO:0019901 9.97 TP53 MSH2 MAPRE1 GSK3B CTNNB1 CCND1
6 RNA polymerase II transcription factor binding GO:0001085 9.78 TP53 SMAD4 GSK3B CTNNB1
7 DNA-dependent ATPase activity GO:0008094 9.75 MSH6 MSH3 MSH2
8 beta-catenin binding GO:0008013 9.73 GSK3B CTNNB1 CDH1 AXIN1 APC2 APC
9 I-SMAD binding GO:0070411 9.69 SMAD4 CTNNB1 AXIN1
10 gamma-catenin binding GO:0045295 9.67 CDH1 APC2 APC
11 mismatched DNA binding GO:0030983 9.62 MSH6 MSH3 MSH2 MLH1
12 MutLalpha complex binding GO:0032405 9.61 MUTYH MSH6 MSH2
13 enzyme binding GO:0019899 9.61 TP53 PTGS2 MSH6 MSH3 MSH2 MLH1
14 DNA N-glycosylase activity GO:0019104 9.6 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 9.57 MSH3 MSH2
18 dinucleotide repeat insertion binding GO:0032181 9.55 MSH3 MSH2
19 single thymine insertion binding GO:0032143 9.54 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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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