DisGeNET - a database of gene-disease associations

Adenomatous Polyposis Coli, C0032580

Gene: APC ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs786201856

APC

0.730

GeneticVariation

BEFREE

Apart from the two previously reported mutation hotspots c.3927_3931delAAAGA (20.47%) and c.3183_3187delACAAA (7.09%), c.847C>T/p.Arg283Ter variant occurred with a frequency of 3.15% (4 out of 127) in Chinese FAP patients.

26625971

2016

dbSNP:

rs786201856

APC

0.730

CausalMutation

CLINVAR

dbSNP:

rs786201856

APC

0.730

GeneticVariation

BEFREE

An Arg283Stop mutation in exon 8 was found in 5 members in another family; 4 of them had FAP and all had small hypopigmented white lesions, probably a new type of CHRPE.

10755094

2000

dbSNP:

rs786201856

APC

0.730

GeneticVariation

BEFREE

We conclude that an Arg283Ter mutation in the APC gene is causative of the FAP phenotype in this family, although there is considerable variation in the presentation of this disease among affected individuals.

12901799

2003

dbSNP:

rs137854580

APC

0.720

GeneticVariation

BEFREE

Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X).

21995949

2012

dbSNP:

rs137854580

APC

0.720

GeneticVariation

BEFREE

A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE.

10755094

2000

dbSNP:

rs137854580

APC

0.720

CausalMutation

CLINVAR

dbSNP:

rs62619935

APC

0.720

GeneticVariation

BEFREE

A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE.

10755094

2000

dbSNP:

rs62619935

APC

0.720

CausalMutation

CLINVAR

dbSNP:

rs62619935

APC

0.720

GeneticVariation

BEFREE

Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X).

21995949

2012

dbSNP:

rs72541816

APC

0.720

GeneticVariation

BEFREE

One previously described as a causative germline mutation (S2621C), associated with a 1-bp insertion (4684insA) on the opposite allele, did not segregate with the FAP phenotype in the family and was therefore considered as being non-pathogenic.

9341879

1997

dbSNP:

rs72541816

APC

0.720

GeneticVariation

UNIPROT

dbSNP:

rs72541816

APC

0.720

GeneticVariation

BEFREE

However, special attention must be given to the missense mutations Asp1822Val and Ser2621Cys since their segregation with the FAP phenotype is questionable.

11668620

2001

dbSNP:

rs121913224

APC

0.710

CausalMutation

CLINVAR

Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.

1316610

1992

dbSNP:

rs121913224

APC

0.710

CausalMutation

CLINVAR

The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis.

10768871

2000

dbSNP:

rs121913224

APC

0.710

CausalMutation

CLINVAR

Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer.

7906810

1994

dbSNP:

rs121913224

APC

0.710

CausalMutation

CLINVAR

Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis.

14729851

2004

dbSNP:

rs121913224

APC

0.710

CausalMutation

CLINVAR

Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

20223039

2005

dbSNP:

rs121913224

APC

0.710

CausalMutation

CLINVAR

APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.

23159591

2013

dbSNP:

rs121913224

APC

0.710

CausalMutation

CLINVAR

Dominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis.

10213492

1999

dbSNP:

rs121913224

APC

0.710

CausalMutation

CLINVAR

Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis.

14523376

2004

dbSNP:

rs121913224

APC

0.710

CausalMutation

CLINVAR

APC gene mutations causing familial adenomatous polyposis in Polish patients.

19029688

2008

dbSNP:

rs121913224

APC

0.710

CausalMutation

CLINVAR

Singapore familial adenomatous polyposis (FAP) patients with classical adenomatous polyposis but undetectable APC mutations have accelerated cancer progression.

17026565

2006

dbSNP:

rs121913224

APC

0.710

CausalMutation

CLINVAR

Preliminary results of the molecular diagnosis of familial adenomatous polyposis in Cuban families.

12172928

2002

dbSNP:

rs121913224

APC

0.710

GeneticVariation

BEFREE

Genetic testing using massively parallel sequencing identified a 5-bp deletion (c.3927_3931delAAAGA) which causes frameshift (p.Glu1309Aspfs) and creates a premature stop codon, resulting in the replacement of the last 1535 amino acids of APC by five incorrect amino acids.

30340471

2018