MCID: APC006
MIFTS: 22

Apc-Associated Polyposis Conditions

Aliases & Classifications for Apc-Associated Polyposis Conditions

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....

Summaries for Apc-Associated Polyposis Conditions

MalaCards based summary : Apc-Associated Polyposis Conditions is related to colorectal cancer and familial adenomatous polyposis 1. 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

Related Diseases for Apc-Associated Polyposis Conditions

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

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

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



Diseases related to Apc-Associated Polyposis Conditions

Symptoms & Phenotypes for Apc-Associated Polyposis Conditions

Drugs & Therapeutics for Apc-Associated Polyposis Conditions

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

Genetic Tests for Apc-Associated Polyposis Conditions

Anatomical Context for Apc-Associated Polyposis Conditions

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

40
Colon, Thyroid

Publications for Apc-Associated Polyposis Conditions

Articles related to Apc-Associated Polyposis Conditions:

(show top 50) (show all 373)
# Title Authors PMID Year
1
The first European family with gastric adenocarcinoma and proximal polyposis of the stomach: case report and review of the literature. 25 6
27343414 2016
2
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
3
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. 6 25
26613750 2016
4
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. 6 25
21643010 2011
5
Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis? 6 25
22135120 2011
6
American founder mutation for attenuated familial adenomatous polyposis. 25 6
18063416 2008
7
Somatic APC mosaicism: an underestimated cause of polyposis coli. 25 6
17604324 2008
8
Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). 25 6
17486639 2007
9
Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review. 6 25
17568392 2007
10
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. 6 25
17489848 2007
11
Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature. 25 6
17064931 2007
12
Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation. 25 6
16461775 2006
13
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 6 25
20223039 2005
14
A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history. 6 25
15951963 2005
15
Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. 25 6
15300576 2004
16
Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. 25 6
11247896 2001
17
UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. 6 25
10612827 2000
18
Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9. 25 6
10562580 1999
19
Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q. 6 25
10494086 1999
20
Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. 6 25
9950360 1999
21
Genotype-phenotype correlations in attenuated adenomatous polyposis coli. 6 25
9585611 1998
22
Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. 6 25
8940264 1996
23
Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation. 25 6
8968744 1996
24
Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. 25 6
8931709 1996
25
Alleles of the APC gene: an attenuated form of familial polyposis. 6 25
8252630 1993
26
Genotype-phenotype correlation in 99 familial adenomatous polyposis patients: A prospective prevention protocol. 6
30897307 2019
27
Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis. 6
31113927 2019
28
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 6
28944238 2017
29
Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study. 6
28125075 2017
30
Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. 6
28533537 2017
31
Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines. 6
28127413 2017
32
Age- and Gender-Specific Risk of Thyroid Cancer in Patients With Familial Adenomatous Polyposis. 6
27623068 2016
33
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 6
26681312 2016
34
Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis. 6
27000756 2016
35
A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis. 6
27391059 2016
36
Clinicopathological features of familial adenomatous polyposis in Korean patients. 6
27158207 2016
37
Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 6
26787237 2016
38
Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients. 6
26900293 2016
39
Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis. 6
26625971 2016
40
Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes. 6
26414517 2016
41
Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. 6
26446593 2016
42
Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing. 6
25590978 2015
43
Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition. 6
26511139 2015
44
APC promoter 1B deletion in seven American families with familial adenomatous polyposis. 6
25243319 2015
45
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 6
25980754 2015
46
Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil. 6
26309368 2015
47
High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations. 6
25604157 2015
48
A novel APC mutation defines a second locus for Cenani-Lenz syndrome. 6
25676610 2015
49
Identification of previously unrecognized FAP in children with Gardner fibroma. 6
25074465 2015
50
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 6
25559809 2015

Variations for Apc-Associated Polyposis Conditions

ClinVar genetic disease variations for Apc-Associated Polyposis Conditions:

6 (show top 50) (show all 5140)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APC NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) SNV Conflicting interpretations of pathogenicity, association, risk factor 822 rs1801155 GRCh37: 5:112175211-112175211
GRCh38: 5:112839514-112839514
2 APC NM_000038.6(APC):c.1742_1743del (p.Lys581fs) Deletion Pathogenic 1048837 GRCh37: 5:112164668-112164669
GRCh38: 5:112828971-112828972
3 APC NM_000038.6(APC):c.5782del (p.Gln1928fs) Deletion Pathogenic 1049123 GRCh37: 5:112177073-112177073
GRCh38: 5:112841376-112841376
4 APC NM_000038.6(APC):c.442del (p.Asp149fs) Deletion Pathogenic 1049151 GRCh37: 5:112111345-112111345
GRCh38: 5:112775648-112775648
5 APC NM_000038.6(APC):c.-2_135+1274del Deletion Pathogenic 1049324 GRCh37: 5:112090586-112091996
GRCh38: 5:112754889-112756299
6 APC NM_000038.6(APC):c.3411del (p.Asp1137fs) Deletion Pathogenic 1049327 GRCh37: 5:112174702-112174702
GRCh38: 5:112839005-112839005
7 APC NM_000038.6(APC):c.4945dup (p.Ile1649fs) Duplication Pathogenic 1049668 GRCh37: 5:112176235-112176236
GRCh38: 5:112840538-112840539
8 APC NM_000038.6(APC):c.3260_3263dup (p.Lys1088fs) Duplication Pathogenic 1050121 GRCh37: 5:112174550-112174551
GRCh38: 5:112838853-112838854
9 APC NM_000038.6(APC):c.230T>A (p.Leu77Ter) SNV Pathogenic 1050615 GRCh37: 5:112102895-112102895
GRCh38: 5:112767198-112767198
10 APC NM_000038.6(APC):c.3329C>G (p.Ser1110Ter) SNV Pathogenic 928634 GRCh37: 5:112174620-112174620
GRCh38: 5:112838923-112838923
11 APC NM_000038.6(APC):c.487C>T (p.Gln163Ter) SNV Pathogenic 217991 rs863225362 GRCh37: 5:112111390-112111390
GRCh38: 5:112775693-112775693
12 APC NM_000038.5(APC):c.730_731delAG (p.Arg244Valfs) Microsatellite Pathogenic 793 rs387906228 GRCh37: 5:112136974-112136975
GRCh38: 5:112801277-112801278
13 APC NM_000038.6(APC):c.505_508ATAG[1] (p.Asp170fs) Microsatellite Pathogenic 804 rs387906231 GRCh37: 5:112111408-112111411
GRCh38: 5:112775711-112775714
14 APC NM_000038.6(APC):c.1098_1099CT[1] (p.Ser367fs) Microsatellite Pathogenic 428117 rs387906237 GRCh37: 5:112154827-112154828
GRCh38: 5:112819130-112819131
15 APC NM_000038.6(APC):c.4385_4386AG[3] (p.Glu1464fs) Microsatellite Pathogenic 812 rs387906234 GRCh37: 5:112175676-112175679
GRCh38: 5:112839979-112839982
16 APC NM_000038.6(APC):c.4612_4613del (p.Glu1538fs) Deletion Pathogenic 823 rs387906236 GRCh37: 5:112175902-112175903
GRCh38: 5:112840205-112840206
17 APC NM_000038.6(APC):c.4385_4386AG[4] (p.Ser1465fs) Microsatellite Pathogenic 811 rs387906234 GRCh37: 5:112175676-112175677
GRCh38: 5:112839979-112839980
18 APC NM_000038.6(APC):c.694C>T (p.Arg232Ter) SNV Pathogenic 42248 rs397515734 GRCh37: 5:112128191-112128191
GRCh38: 5:112792494-112792494
19 APC NM_000038.6(APC):c.894_895CT[1] (p.Ser299fs) Microsatellite Pathogenic 42251 rs397515735 GRCh37: 5:112151251-112151252
GRCh38: 5:112815554-112815555
20 APC NM_000038.6(APC):c.1369del (p.Ser457fs) Deletion Pathogenic 795 rs387906229 GRCh37: 5:112157647-112157647
GRCh38: 5:112821950-112821950
21 APC NM_000038.6(APC):c.1500T>G (p.Tyr500Ter) SNV Pathogenic 796 rs387906230 GRCh37: 5:112162896-112162896
GRCh38: 5:112827199-112827199
22 APC NM_000038.6(APC):c.904C>T (p.Arg302Ter) SNV Pathogenic 798 rs137854568 GRCh37: 5:112151261-112151261
GRCh38: 5:112815564-112815564
23 APC NM_000038.6(APC):c.1069dup (p.Ile357fs) Duplication Pathogenic 805 rs387906232 GRCh37: 5:112154797-112154798
GRCh38: 5:112819100-112819101
24 APC NM_000038.6(APC):c.1621C>T (p.Gln541Ter) SNV Pathogenic 806 rs137854572 GRCh37: 5:112163698-112163698
GRCh38: 5:112828001-112828001
25 APC NM_000038.6(APC):c.1660C>T (p.Arg554Ter) SNV Pathogenic 807 rs137854573 GRCh37: 5:112164586-112164586
GRCh38: 5:112828889-112828889
26 APC NM_000038.6(APC):c.1690C>T (p.Arg564Ter) SNV Pathogenic 808 rs137854574 GRCh37: 5:112164616-112164616
GRCh38: 5:112828919-112828919
27 APC NM_000038.6(APC):c.1885_1886insA (p.Leu629fs) Insertion Pathogenic 809 rs387906233 GRCh37: 5:112170789-112170790
GRCh38: 5:112835092-112835093
28 APC NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) SNV Pathogenic 810 rs137854575 GRCh37: 5:112174096-112174096
GRCh38: 5:112838399-112838399
29 APC NM_000038.6(APC):c.470G>A (p.Trp157Ter) SNV Pathogenic 813 rs137854576 GRCh37: 5:112111373-112111373
GRCh38: 5:112775676-112775676
30 APC NM_000038.6(APC):c.643C>T (p.Gln215Ter) SNV Pathogenic 814 rs137854577 GRCh37: 5:112116598-112116598
GRCh38: 5:112780901-112780901
31 overlap with 4 genes NC_000005.9:g.112172610_112244011del Deletion Pathogenic 815 GRCh37: 5:112172610-112244011
GRCh38: 5:112836913-112908314
32 APC NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) Microsatellite Pathogenic 816 rs121913224 GRCh37: 5:112175212-112175216
GRCh38: 5:112839515-112839519
33 APC NM_000038.6(APC):c.5942del (p.Asn1981fs) Deletion Pathogenic 820 rs397509433 GRCh37: 5:112177232-112177232
GRCh38: 5:112841535-112841535
34 APC NM_000038.6(APC):c.5582_5585del (p.Asp1860_Ser1861insTer) Deletion Pathogenic 821 rs587776520 GRCh37: 5:112176871-112176874
GRCh38: 5:112841174-112841177
35 APC NM_000038.6(APC):c.1458T>G (p.Tyr486Ter) SNV Pathogenic 825 rs2229992 GRCh37: 5:112162854-112162854
GRCh38: 5:112827157-112827157
36 APC NM_000038.6(APC):c.1311_1312+1del Deletion Pathogenic 826 rs397514030 GRCh37: 5:112155040-112155042
GRCh38: 5:112819343-112819345
37 APC NM_000038.6(APC):c.1192_1193del (p.Lys398fs) Deletion Pathogenic 828 rs387906238 GRCh37: 5:112154921-112154922
GRCh38: 5:112819224-112819225
38 APC NM_000038.6(APC):c.937_938del (p.Glu313fs) Deletion Pathogenic 831 rs387906239 GRCh37: 5:112154666-112154667
GRCh38: 5:112818969-112818970
39 APC APC deletion Deletion Pathogenic 834 GRCh37: 5:112043201-112181937
GRCh38: 5:112707504-112846240
40 APC NM_000038.6(APC):c.423-1G>A SNV Pathogenic 835 rs397514031 GRCh37: 5:112111325-112111325
GRCh38: 5:112775628-112775628
41 APC NM_000038.6(APC):c.1059_1060insAAGGATGATAT (p.Pro354fs) Insertion Pathogenic 836 rs1554079996 GRCh37: 5:112154787-112154788
GRCh38: 5:112819090-112819091
42 APC NG_008481.4:g.(?_150033)_(158719_?)del Deletion Pathogenic 841 GRCh37: 5:112173250-112181936
GRCh38: 5:112837553-112846239
43 APC APC, 5-BP DEL, NT3221 Deletion Pathogenic 842 GRCh37:
GRCh38:
44 APC NM_000038.6(APC):c.477del (p.Tyr158_Tyr159insTer) Deletion Pathogenic 180587 rs730880250 GRCh37: 5:112111380-112111380
GRCh38: 5:112775683-112775683
45 APC NM_000038.6(APC):c.3149del (p.Ala1050fs) Deletion Pathogenic 183078 rs730882135 GRCh37: 5:112174440-112174440
GRCh38: 5:112838743-112838743
46 APC NM_000038.6(APC):c.925G>T (p.Gly309Ter) SNV Pathogenic 188167 rs786204118 GRCh37: 5:112151282-112151282
GRCh38: 5:112815585-112815585
47 APC NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) SNV Pathogenic 801 rs121913327 GRCh37: 5:112175303-112175303
GRCh38: 5:112839606-112839606
48 APC NM_000038.6(APC):c.3830T>G (p.Leu1277Ter) SNV Pathogenic 188239 rs786204169 GRCh37: 5:112175121-112175121
GRCh38: 5:112839424-112839424
49 APC NM_000038.6(APC):c.4175C>A (p.Ser1392Ter) SNV Pathogenic 188240 rs786204170 GRCh37: 5:112175466-112175466
GRCh38: 5:112839769-112839769
50 APC NM_000038.6(APC):c.1744-2A>G SNV Pathogenic 156482 rs587783035 GRCh37: 5:112170646-112170646
GRCh38: 5:112834949-112834949

Expression for Apc-Associated Polyposis Conditions

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

Pathways for Apc-Associated Polyposis Conditions

GO Terms for Apc-Associated Polyposis Conditions

Sources for Apc-Associated Polyposis Conditions

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
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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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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