|
rs730882128
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A family is described here whereby an unaffected mother with no detectible mutation in APC, transmitted the identical APC c.4729G>T (p.Glu1577X) mutation to two children.
|
18026870 |
2008 |
|
rs749782426
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A family is described here whereby an unaffected mother with no detectible mutation in APC, transmitted the identical APC c.4729G>T (p.Glu1577X) mutation to two children.
|
18026870 |
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 |
|
rs1801155
|
|
|
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 |
|
rs459552
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Fat intake modified the APC D1822V-adenoma association, but further studies are warranted.
|
20510605 |
2010 |
|
rs121913224
|
|
|
0.010 |
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
|
|
|
0.030 |
GeneticVariation |
BEFREE |
It is therefore unlikely that APC D1822V serves as an important marker for colorectal carcinoma.
|
14616385 |
2003 |
|
rs374853436
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Novel Missense Mutation at Codon 2774 (C.8321 G>A) p.S2774N of APC Gene in a Denovo Case of Familial Adenomatous Polyposis.
|
26161710 |
2015 |
|
rs454886
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of these, rs454886 in the APC tumor suppressor gene was associated with increased breast cancer risk (per allele odds ratio, 1.23; 95% confidence intervals, 1.05-1.43; P(trend) = 0.01).
|
18708403 |
2008 |
|
rs587782868
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One homozygous MYH mutation carrier (G382D) was detected among the six patients without a family history and without a germline APC mutation who were tested.
|
15951963 |
2005 |
|
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 |
|
rs1801155
|
|
|
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 |
|
rs1801166
|
|
|
0.020 |
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 |
|
rs52812045
|
|
|
0.010 |
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 |
|
rs3838646
|
|
|
0.010 |
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 |
|
rs1058881
|
|
|
0.010 |
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 |
|
rs1058818
|
|
|
0.010 |
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 |
|
rs1801166
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The APC E1317Q variant was detected in 1.25% individuals undergoing testing.
|
17920230 |
2007 |
|
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 |
|
rs1801155
|
|
|
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 |
|
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 |
|
rs1801155
|
|
|
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 |
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
|
|
|
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 |
|
rs1182822563
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The three most frequent CD24 SNP combinations were: heterozygote for A1626G and WT for the rest of the alleles (14% of patients), heterozygote for C170T, A1626G, A1056G and WT for the rest (14% of patients), and heterozygote for C170T, A1056G and WT for the rest (10% of patients).All patients were APC WT.
|
26394139 |
2015 |