Apc-Associated Polyposis Conditions disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: APC006 MIFTS: 22	Apc-Associated Polyposis Conditions
Genes Variations Tissues Related diseases Publications Expand all tables

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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....

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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

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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
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:

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Symptoms & Phenotypes for Apc-Associated Polyposis Conditions

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Drugs & Therapeutics for Apc-Associated Polyposis Conditions

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

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

⁴⁰

Colon, Thyroid

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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	Repak R...Bures J	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	Li J...Chenevix-Trench G	27087319	2016
3	Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. ⁶ ²⁵	Spier I...Aretz S	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	Rohlin A...Nordling M	21643010	2011
5	Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis? ⁶ ²⁵	Burger B...Heinimann K	22135120	2011
6	American founder mutation for attenuated familial adenomatous polyposis. ²⁵ ⁶	Neklason DW...Burt RW	18063416	2008
7	Somatic APC mosaicism: an underestimated cause of polyposis coli. ²⁵ ⁶	Hes FJ...Tops CM	17604324	2008
8	Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). ²⁵ ⁶	Aretz S...Friedl W	17486639	2007
9	Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review. ⁶ ²⁵	Nielsen M...Weiss MM	17568392	2007
10	Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. ⁶ ²⁵	Nielsen M...Vasen HF	17489848	2007
11	Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature. ²⁵ ⁶	Nieuwenhuis MH...Vasen HF	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	Sieber OM...Tomlinson IP	16461775	2006
13	Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. ⁶ ²⁵	Friedl W...Aretz S	20223039	2005
14	A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history. ⁶ ²⁵	Truta B...Terdiman JP	15951963	2005
15	Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. ²⁵ ⁶	Burt RW...White RL	15300576	2004
16	Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. ²⁵ ⁶	Friedl W...Propping P	11247896	2001
17	UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. ⁶ ²⁵	Beroud C...Junien C	10612827	2000
18	Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9. ²⁵ ⁶	Rozen P...Legum C	10562580	1999
19	Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q. ⁶ ²⁵	Pilarski RT...Shulman Rosengren S	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	Wallis YL...Macdonald F	9950360	1999
21	Genotype-phenotype correlations in attenuated adenomatous polyposis coli. ⁶ ²⁵	Soravia C...Bapat B	9585611	1998
22	Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. ⁶ ²⁵	Eccles DM...Fodde R	8940264	1996
23	Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation. ²⁵ ⁶	Scott RJ...Maher ER	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	van der Luijt RB...Fodde R	8931709	1996
25	Alleles of the APC gene: an attenuated form of familial polyposis. ⁶ ²⁵	Spirio L...Otterud B	8252630	1993
26	Genotype-phenotype correlation in 99 familial adenomatous polyposis patients: A prospective prevention protocol. ⁶	de Oliveira JC...Rossi BM	30897307	2019
27	Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis. ⁶	Wang D...Zhang X	31113927	2019
28	Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. ⁶	DeRycke MS...Thibodeau SN	28944238	2017
29	Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study. ⁶	Ghazani AA...Wagle N	28125075	2017
30	Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. ⁶	Khan N...Sarin R	28533537	2017
31	Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines. ⁶	Cruz-Correa M...Puerto Rico Clinical Cancer Genetics Consortia	28127413	2017
32	Age- and Gender-Specific Risk of Thyroid Cancer in Patients With Familial Adenomatous Polyposis. ⁶	Uchino S...Sakai T	27623068	2016
33	Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. ⁶	Susswein LR...Chung WK	26681312	2016
34	Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis. ⁶	Liu Q...Luo Y	27000756	2016
35	A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis. ⁶	Zhang Z...Banerjee S	27391059	2016
36	Clinicopathological features of familial adenomatous polyposis in Korean patients. ⁶	Jung SM...Kim JC	27158207	2016
37	Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. ⁶	Meric-Bernstam F...Chen K	26787237	2016
38	Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients. ⁶	Chang YC...Chang YS	26900293	2016
39	Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis. ⁶	Zhang S...Wu L	26625971	2016
40	Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes. ⁶	Rashid M...Adams DJ	26414517	2016
41	Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. ⁶	Papp J...Olah E	26446593	2016
42	Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing. ⁶	Inra JA...Kastrinos F	25590978	2015
43	Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition. ⁶	Aceto GM...Curia MC	26511139	2015
44	APC promoter 1B deletion in seven American families with familial adenomatous polyposis. ⁶	Snow AK...Neklason DW	25243319	2015
45	Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. ⁶	Yurgelun MB...Syngal S	25980754	2015
46	Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil. ⁶	Moreira-Nunes CA...Burbano RR	26309368	2015
47	High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations. ⁶	Out AA...Hes FJ	25604157	2015
48	A novel APC mutation defines a second locus for Cenani-Lenz syndrome. ⁶	Patel N...Alkuraya FS	25676610	2015
49	Identification of previously unrecognized FAP in children with Gardner fibroma. ⁶	Vieira J...Teixeira MR	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	Chubb D...Houlston RS	25559809	2015

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Genes for Apc-Associated Polyposis Conditions

Genes related to Apc-Associated Polyposis Conditions (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	APC	APC Regulator Of WNT Signaling Pathway	Protein Coding	432.36	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Publications (show sections)	9101302

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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

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Expression for Apc-Associated Polyposis Conditions

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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