|
rs786201856
|
|
|
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
|
|
|
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 |
|
rs786201856
|
|
|
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 |
|
rs137854580
|
|
|
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
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE.
|
10755094 |
2000 |
|
rs62619935
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE.
|
10755094 |
2000 |
|
rs62619935
|
|
|
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 |
|
rs72541816
|
|
|
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 |
|
rs72541816
|
|
|
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 |
|
rs121913224
|
|
|
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 |
|
rs137854575
|
|
|
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 |
|
rs397515734
|
|
|
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 |
|
rs459552
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
0.070 |
GeneticVariation |
BEFREE |
It is therefore unlikely that APC D1822V serves as an important marker for colorectal carcinoma.
|
14616385 |
2003 |
|
rs459552
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Fat intake modified the APC D1822V-adenoma association, but further studies are warranted.
|
20510605 |
2010 |
|
rs459552
|
|
|
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
|
|
|
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 |
|
rs1463038513
|
|
|
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 |
|
rs1463038513
|
|
|
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 |
|
rs1463038513
|
|
|
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 |
|
rs1463038513
|
|
|
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 |
|
rs1463038513
|
|
|
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 |
|
rs1463038513
|
|
|
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 |