rs786201856
|
|
Adenomatous Polyposis Coli
|
|
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 |
rs786201856
|
|
Adenomatous Polyposis Coli
|
|
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 |
rs786201856
|
|
Adenomatous Polyposis Coli
|
|
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 |
rs72541816
|
|
Adenomatous Polyposis Coli
|
|
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 |
rs72541816
|
|
Adenomatous Polyposis Coli
|
|
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 |
rs62619935
|
|
Adenomatous Polyposis Coli
|
|
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 |
rs62619935
|
|
Adenomatous Polyposis Coli
|
|
0.720 |
GeneticVariation
|
BEFREE |
A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE.
|
10755094 |
2000 |
rs137854580
|
|
Adenomatous Polyposis Coli
|
|
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 |
rs137854580
|
|
Adenomatous Polyposis Coli
|
|
0.720 |
GeneticVariation
|
BEFREE |
A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE.
|
10755094 |
2000 |
rs397515734
|
|
Adenomatous Polyposis Coli
|
|
0.710 |
GeneticVariation
|
BEFREE |
In them, 2 rare variants (c.694C>T in APC and c.1690A>G in MSH2) might be the putative causal mutations for familial adenomatous polyposis (FAP) since the rarity of the mutated allele in normal controls. c.694C>T was detected in only affected members and generated a premature stop codon in APC.
|
24735542 |
2014 |
rs137854575
|
|
Adenomatous Polyposis Coli
|
|
0.710 |
GeneticVariation
|
BEFREE |
We identified a mutation in the APC gene that results in a truncated protein (Y935X) in the FAP proband, and subsequently in 12 FAP-affected members.
|
16292097 |
2005 |
rs121913224
|
|
Adenomatous Polyposis Coli
|
|
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 |
rs459552
|
|
Adenomatous Polyposis Coli
|
|
0.070 |
GeneticVariation
|
BEFREE |
The present study utilized a highly efficient method to identify APC mutations and investigated the association between the APC genetic variants Y486Y, A545A, T1493T, and D1822V and susceptibility to oral squamous cell carcinoma (OSCC).
|
26447891 |
2016 |
rs459552
|
|
Adenomatous Polyposis Coli
|
|
0.070 |
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 |
rs459552
|
|
Adenomatous Polyposis Coli
|
|
0.070 |
GeneticVariation
|
BEFREE |
In a large Scottish case-control study, we investigated the effects of adenomatous polyposis coli (APC) Asp1822Val (rs459552) and APC Glu1317Gln substitutions on colorectal cancer (CRC) risk and whether these associations were influenced by lifestyle and dietary factors.
|
18375958 |
2008 |
rs459552
|
|
Adenomatous Polyposis Coli
|
|
0.070 |
GeneticVariation
|
BEFREE |
It is therefore unlikely that APC D1822V serves as an important marker for colorectal carcinoma.
|
14616385 |
2003 |
rs459552
|
|
Adenomatous Polyposis Coli
|
|
0.070 |
GeneticVariation
|
BEFREE |
When independently assessed in 971 patients with colorectal cancer and 954 healthy control subjects, none of the identified missense APC alterations conferred a significantly increased risk for colorectal cancer, odds ratio (95 percent confidence intervals): S130G = 3.1 (0.29-32.25), E1317Q = 1.08 (0.59-2.74), G2502S = 1 (0.65-1.63), D1822V (heterozygous) = 0.79 (0.64-0.98), D1822V (homozygous) = 0.82 (0.63-1.27).
|
18612690 |
2008 |
rs459552
|
|
Adenomatous Polyposis Coli
|
|
0.070 |
GeneticVariation
|
BEFREE |
This study aims to determine the contribution of polymorphisms in the genes of the β-catenin destruction complex to develop CRC, specifically adenomatous polyposis coli (APC) (rs11954856 G>T and rs459552 A>T), axis inhibition protein 1 (AXIN1) (rs9921222 C>T and rs1805105 C>T), AXIN2 (rs7224837 A>G), and dishevelled 2 (DVL2) (2074222 G>A and rs222836 C>T).
|
31723073 |
2019 |
rs459552
|
|
Adenomatous Polyposis Coli
|
|
0.070 |
GeneticVariation
|
BEFREE |
Fat intake modified the APC D1822V-adenoma association, but further studies are warranted.
|
20510605 |
2010 |
rs1801155
|
|
Adenomatous Polyposis Coli
|
|
0.060 |
GeneticVariation
|
BEFREE |
The authors believe the findings of the current study broaden the known spectrum of ethnic groups in which the APC I1307K mutation is prevalent.
|
10679643 |
2000 |
rs1801155
|
|
Adenomatous Polyposis Coli
|
|
0.060 |
GeneticVariation
|
BEFREE |
The vast majority of APC I1307K somatic mutations consisted of a single adenine insertion (insA) involving the variant (A)8 tract.
|
9751605 |
1998 |
rs1801155
|
|
Adenomatous Polyposis Coli
|
|
0.060 |
GeneticVariation
|
BEFREE |
The characterization of somatic APC mutations in colonic adenomas and carcinomas in Ashkenazi Jews with the APC I1307K variant using linkage disequilibrium.
|
12533826 |
2003 |
rs1801155
|
|
Adenomatous Polyposis Coli
|
|
0.060 |
GeneticVariation
|
BEFREE |
An APC mutation (I1307K) was found in an index case of a non-Jewish woman and her son with attenuated familial adenomatous polyposis (A-FAP) and no family history of cancer.
|
22180177 |
2012 |
rs1801155
|
|
Adenomatous Polyposis Coli
|
|
0.060 |
GeneticVariation
|
BEFREE |
Real-time PCR assessed genetic variants of APC (I1307K and E1317Q), and four different single nucleotide polymorphisms (SNPs) in the CD24 gene: C170T (rs52812045), TG1527del (rs3838646), A1626G (rs1058881) and A1056G (rs1058818).
|
26394139 |
2015 |
rs1801155
|
|
Adenomatous Polyposis Coli
|
|
0.060 |
GeneticVariation
|
BEFREE |
The APC p.I1307K gene variant is an important risk factor for colorectal neoplasia in average risk Ashkenazi Jews.
|
23896379 |
2013 |