|
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 |
|
rs751945983
|
|
|
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 |
|
rs878859113
|
|
|
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 |
|
rs150973053
|
|
|
0.010 |
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 |
|
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 |
|
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 |
|
rs753314927
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings strongly support a pathogenic role of the APC N1026S variant in the AFAP phenotype, reinforcing the importance of functional characterization of APC variants for genetic counseling.
|
18166348 |
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 |