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MCID: APC006
MIFTS: 21

Apc-Associated Polyposis Conditions

Genes Variations Tissues Related diseases Publications
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Aliases & Classifications for Apc-Associated Polyposis Conditions

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MalaCards integrated aliases for Apc-Associated Polyposis Conditions:

Name: Apc-Associated Polyposis Conditions 25 6

Characteristics:

GeneReviews:

25
Penetrance In fap, the penetrance of colonic adenomatous polyposis and colon cancer is virtually 100% in untreated individuals....
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Summaries for Apc-Associated Polyposis Conditions

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MalaCards based summary : Apc-Associated Polyposis Conditions is related to gastric adenocarcinoma and proximal polyposis of the stomach and familial adenomatous polyposis. An important gene associated with Apc-Associated Polyposis Conditions is APC (APC Regulator Of WNT Signaling Pathway). Affiliated tissues include colon and thyroid.

GeneReviews: NBK1345
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Related Diseases for Apc-Associated Polyposis Conditions

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Diseases related to Apc-Associated Polyposis Conditions via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gastric adenocarcinoma and proximal polyposis of the stomach 10.1
2 familial adenomatous polyposis 10.1
3 gastric adenocarcinoma 10.1
4 adenoma 10.1
5 hepatoblastoma 10.1
6 thyroid carcinoma 10.1

Graphical network of the top 20 diseases related to Apc-Associated Polyposis Conditions:



Diseases related to Apc-Associated Polyposis Conditions
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Symptoms & Phenotypes for Apc-Associated Polyposis Conditions

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Drugs & Therapeutics for Apc-Associated Polyposis Conditions

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Search Clinical Trials , NIH Clinical Center for Apc-Associated Polyposis Conditions

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Genetic Tests for Apc-Associated Polyposis Conditions

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Anatomical Context for Apc-Associated Polyposis Conditions

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MalaCards organs/tissues related to Apc-Associated Polyposis Conditions:

40
Colon, Thyroid
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Publications for Apc-Associated Polyposis Conditions

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Articles related to Apc-Associated Polyposis Conditions:

(show top 50) (show all 192)
# Title Authors PMID Year
1
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. 25 6
27087319 2016
2
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome. 6 25
21813476 2012
3
Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9. 25 6
10562580 1999
4
Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q. 6 25
10494086 1999
5
Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. 6 25
8931709 1996
6
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 6
20685668 2010
7
Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands. 6
15771908 2005
8
Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15. 6
12136240 2002
9
Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. 6
11001924 2000
10
The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect. 6
10598803 1999
11
Familial adenomatous polyposis-associated thyroid cancer: a clinical, pathological, and molecular genetics study. 6
9916927 1999
12
Congenital cholesteatoma in a child carrying a gene mutation for adenomatous polyposis coli. 6
9890479 1999
13
Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps. 6
9843214 1998
14
The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. 6
9724771 1998
15
A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9. 6
9603437 1998
16
Transcript dosage effect in familial adenomatous polyposis: model offered by two kindreds with exon 9 APC gene mutations. 6
9521420 1998
17
An unusually severe phenotype for familial adenomatous polyposis. 6
9487968 1997
18
Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study. 6
8929955 1996
19
Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes. 6
7797123 1995
20
Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli. 6
8162051 1994
21
A novel mutation at the splice junction of exon 9 of the APC gene in familial adenomatous polyposis. 6
8019566 1994
22
Identification of somatic APC gene mutations in periampullary adenomas in a patient with familial adenomatous polyposis (FAP). 6
8281160 1993
23
Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis. 6
1324223 1992
24
The first European family with gastric adenocarcinoma and proximal polyposis of the stomach: case report and review of the literature. 25
27343414 2016
25
Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology. 25
27496117 2016
26
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 25
27476653 2016
27
Effect of Sulindac and Erlotinib vs Placebo on Duodenal Neoplasia in Familial Adenomatous Polyposis: A Randomized Clinical Trial. 25
27002448 2016
28
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. 25
26613750 2016
29
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes. 25
26615784 2016
30
An international randomised trial of celecoxib versus celecoxib plus difluoromethylornithine in patients with familial adenomatous polyposis. 25
25792707 2016
31
Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors. 25
26559593 2015
32
Cribriform-morular variant of papillary thyroid carcinoma. 25
26293799 2015
33
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. 25
25938944 2015
34
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology clinical practice guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology clinical practice guidelines. 25
25829526 2015
35
Desmoids and genotype in familial adenomatous polyposis. 25
25751801 2015
36
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes. 25
25159889 2015
37
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25
25645574 2015
38
FAP Associated Papillary Thyroid Carcinoma: A Peculiar Subtype of Familial Nonmedullary Thyroid Cancer. 25
26697262 2015
39
Therapy-associated polyposis as a late sequela of cancer treatment. 25
24362051 2014
40
Wnt signaling in adult intestinal stem cells and cancer. 25
24308963 2014
41
Preventive effects of low-dose aspirin on colorectal adenoma growth in patients with familial adenomatous polyposis: double-blind, randomized clinical trial. 25
24133627 2013
42
The prevalence of thyroid cancer and benign thyroid disease in patients with familial adenomatous polyposis may be higher than previously recognized. 25
22425061 2012
43
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. 25
22561515 2012
44
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. 25
21643010 2011
45
Risk factors predicting desmoid occurrence in patients with familial adenomatous polyposis: a meta-analysis. 25
20528895 2011
46
Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin. 25
21039432 2011
47
A nation-wide study comparing sporadic and familial adenomatous polyposis-related desmoid-type fibromatoses. 25
20830713 2011
48
A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis. 25
21543343 2011
49
Screening for thyroid cancer in patients with familial adenomatous polyposis. 25
21173694 2011
50
Defining phenotypes and cancer risk in hyperplastic polyposis syndrome. 25
21228663 2011
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Variations for Apc-Associated Polyposis Conditions

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ClinVar genetic disease variations for Apc-Associated Polyposis Conditions:

6 (show top 50) (show all 4256)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APC NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) SNV Conflicting interpretations of pathogenicity, association, risk factor 822 rs1801155 5:112175211-112175211 5:112839514-112839514
2 APC APC, 5-BP DEL, NT3221 Deletion Pathogenic 842
3 APC NG_008481.4:g.(?_150033)_(158719_?)del Deletion Pathogenic 841 5:112173250-112181936 5:112837553-112846239
4 APC NM_000038.6(APC):c.1059_1060insAAGGATGATAT (p.Pro354fs) Insertion Pathogenic 836 rs1554079996 5:112154787-112154788 5:112819090-112819091
5 APC NM_000038.6(APC):c.423-1G>A SNV Pathogenic 835 rs397514031 5:112111325-112111325 5:112775628-112775628
6 APC APC deletion Deletion Pathogenic 834 5:112043201-112181937 5:112707504-112846240
7 APC NM_000038.6(APC):c.937_938del (p.Glu313fs) Deletion Pathogenic 831 rs387906239 5:112154666-112154667 5:112818969-112818970
8 APC NM_000038.6(APC):c.1192_1193del (p.Lys398fs) Deletion Pathogenic 828 rs387906238 5:112154921-112154922 5:112819224-112819225
9 APC NM_000038.6(APC):c.1098_1099CT[1] (p.Ser367fs) Microsatellite Pathogenic 428117 rs387906237 5:112154827-112154828 5:112819130-112819131
10 APC NM_000038.6(APC):c.1311_1312+1del Deletion Pathogenic 826 rs397514030 5:112155040-112155042 5:112819343-112819345
11 APC NM_000038.6(APC):c.1458T>G (p.Tyr486Ter) SNV Pathogenic 825 rs2229992 5:112162854-112162854 5:112827157-112827157
12 APC NM_000038.6(APC):c.5582_5585del (p.Asp1860_Ser1861insTer) Deletion Pathogenic 821 rs587776520 5:112176871-112176874 5:112841174-112841177
13 APC NM_000038.6(APC):c.5942del (p.Asn1981fs) Deletion Pathogenic 820 rs397509433 5:112177232-112177232 5:112841535-112841535
14 APC NM_000038.6(APC):c.1621C>T (p.Gln541Ter) SNV Pathogenic 806 rs137854572 5:112163698-112163698 5:112828001-112828001
15 APC NM_000038.6(APC):c.1069dup (p.Ile357fs) Duplication Pathogenic 805 rs387906232 5:112154797-112154798 5:112819100-112819101
16 APC NM_000038.6(APC):c.505_508ATAG[1] (p.Asp170fs) Microsatellite Pathogenic 804 rs387906231 5:112111408-112111411 5:112775711-112775714
17 APC NM_000038.6(APC):c.904C>T (p.Arg302Ter) SNV Pathogenic 798 rs137854568 5:112151261-112151261 5:112815564-112815564
18 APC NM_000038.6(APC):c.1500T>G (p.Tyr500Ter) SNV Pathogenic 796 rs387906230 5:112162896-112162896 5:112827199-112827199
19 APC NM_000038.6(APC):c.1369del (p.Ser457fs) Deletion Pathogenic 795 rs387906229 5:112157647-112157647 5:112821950-112821950
20 APC NM_000038.5(APC):c.730_731delAG (p.Arg244Valfs) Microsatellite Pathogenic 793 rs387906228 5:112136974-112136975 5:112801277-112801278
21 APC NM_000038.6(APC):c.1660C>T (p.Arg554Ter) SNV Pathogenic 807 rs137854573 5:112164586-112164586 5:112828889-112828889
22 APC NM_000038.6(APC):c.1690C>T (p.Arg564Ter) SNV Pathogenic 808 rs137854574 5:112164616-112164616 5:112828919-112828919
23 APC NM_000038.6(APC):c.1885_1886insA (p.Leu629fs) Insertion Pathogenic 809 rs387906233 5:112170789-112170790 5:112835092-112835093
24 APC NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) SNV Pathogenic 810 rs137854575 5:112174096-112174096 5:112838399-112838399
25 APC NM_000038.6(APC):c.470G>A (p.Trp157Ter) SNV Pathogenic 813 rs137854576 5:112111373-112111373 5:112775676-112775676
26 APC NM_000038.6(APC):c.643C>T (p.Gln215Ter) SNV Pathogenic 814 rs137854577 5:112116598-112116598 5:112780901-112780901
27 APC nsv513782 Deletion Pathogenic 815 5:112172610-112244011 5:112836913-112908314
28 APC NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) Microsatellite Pathogenic 816 rs121913224 5:112175212-112175216 5:112839515-112839519
29 APC NM_000038.6(APC):c.694C>T (p.Arg232Ter) SNV Pathogenic 42248 rs397515734 5:112128191-112128191 5:112792494-112792494
30 APC NM_000038.6(APC):c.894_895CT[1] (p.Ser299fs) Microsatellite Pathogenic 42251 rs397515735 5:112151251-112151252 5:112815554-112815555
31 APC NM_000038.6(APC):c.2107del (p.Ala703fs) Deletion Pathogenic 156476 rs587783030 5:112173394-112173394 5:112837697-112837697
32 APC NM_000038.6(APC):c.4666del (p.Thr1556fs) Deletion Pathogenic 156477 rs587783031 5:112175952-112175952 5:112840255-112840255
33 APC NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) Deletion Pathogenic 88913 rs587779352 5:112174471-112174475 5:112838774-112838778
34 APC NM_000038.6(APC):c.3286C>T (p.Gln1096Ter) SNV Pathogenic 156475 rs587783029 5:112174577-112174577 5:112838880-112838880
35 APC NM_000038.6(APC):c.3814del (p.Ser1272fs) Deletion Pathogenic 156479 rs587783033 5:112175101-112175101 5:112839404-112839404
36 APC NM_000038.6(APC):c.426_427del (p.Leu143fs) Deletion Pathogenic 142574 rs587782557 5:112111329-112111330 5:112775632-112775633
37 APC NM_000038.6(APC):c.1744-2A>G SNV Pathogenic 156482 rs587783035 5:112170646-112170646 5:112834949-112834949
38 APC NM_000038.6(APC):c.477del (p.Tyr158_Tyr159insTer) Deletion Pathogenic 180587 rs730880250 5:112111380-112111380 5:112775683-112775683
39 APC NM_000038.6(APC):c.3149del (p.Ala1050fs) Deletion Pathogenic 183078 rs730882135 5:112174440-112174440 5:112838743-112838743
40 APC NM_000038.6(APC):c.925G>T (p.Gly309Ter) SNV Pathogenic 188167 rs786204118 5:112151282-112151282 5:112815585-112815585
41 APC NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) SNV Pathogenic 801 rs121913327 5:112175303-112175303 5:112839606-112839606
42 APC NM_000038.6(APC):c.3830T>G (p.Leu1277Ter) SNV Pathogenic 188239 rs786204169 5:112175121-112175121 5:112839424-112839424
43 APC NM_000038.6(APC):c.4175C>A (p.Ser1392Ter) SNV Pathogenic 188240 rs786204170 5:112175466-112175466 5:112839769-112839769
44 APC NM_000038.6(APC):c.1262G>A (p.Trp421Ter) SNV Pathogenic 188244 rs559510809 5:112154991-112154991 5:112819294-112819294
45 APC NM_000038.6(APC):c.5936_5939del (p.Asn1979fs) Deletion Pathogenic 140863 rs587781330 5:112177225-112177228 5:112841528-112841531
46 APC NM_000038.6(APC):c.2413C>T (p.Arg805Ter) SNV Pathogenic 127281 rs587779783 5:112173704-112173704 5:112838007-112838007
47 APC NM_000038.6(APC):c.3088A>T (p.Lys1030Ter) SNV Pathogenic 127284 rs587779786 5:112174379-112174379 5:112838682-112838682
48 APC NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) SNV Pathogenic 194585 rs121913332 5:112175639-112175639 5:112839942-112839942
49 APC NM_000038.6(APC):c.2365C>T (p.Gln789Ter) SNV Pathogenic 92341 rs398123117 5:112173656-112173656 5:112837959-112837959
50 APC NM_000038.6(APC):c.4473dup (p.Ala1492fs) Duplication Pathogenic 92347 rs398123122 5:112175760-112175761 5:112840063-112840064
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Expression for Apc-Associated Polyposis Conditions

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Search GEO for disease gene expression data for Apc-Associated Polyposis Conditions.
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Pathways for Apc-Associated Polyposis Conditions

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GO Terms for Apc-Associated Polyposis Conditions

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Sources for Apc-Associated Polyposis Conditions

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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