|
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 |
|
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 |
|
rs1463038513
|
|
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 |
|
rs863225335
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
Using this detection system, three novel germline mutations in familial adenomatous polyposis (FAP) patients were identified, i.e. a Gly101 Ter non-sense mutation in exon 3, an exon 4 splice acceptor mutation and a 555delC deletion in exon 5.
|
9664575 |
1998 |
|
rs773952596
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
Using this detection system, three novel germline mutations in familial adenomatous polyposis (FAP) patients were identified, i.e. a Gly101 Ter non-sense mutation in exon 3, an exon 4 splice acceptor mutation and a 555delC deletion in exon 5.
|
9664575 |
1998 |
|
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 |
|
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 |
A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE.
|
10755094 |
2000 |
|
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 |
|
rs1463038513
|
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs1463038513
|
|
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 |
|
rs587782868
|
|
Adenomatous Polyposis Coli
|
|
0.030 |
GeneticVariation
|
BEFREE |
The lack of complementation of the hMYH variants for MutY, and the reduced activity of the Y82C and G253D E.coli enzymes, provide additional circumstantial evidence that the somatic mutations in APC, and the occurrence of FAP in Family N, are due to a reduced ability of the Y165C and G382D hMYH enzymes to recognize and repair OG:A mismatches.
|
12628248 |
2003 |
|
rs770649674
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
The lack of complementation of the hMYH variants for MutY, and the reduced activity of the Y82C and G253D E.coli enzymes, provide additional circumstantial evidence that the somatic mutations in APC, and the occurrence of FAP in Family N, are due to a reduced ability of the Y165C and G382D hMYH enzymes to recognize and repair OG:A mismatches.
|
12628248 |
2003 |
|
rs587780607
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
The lack of complementation of the hMYH variants for MutY, and the reduced activity of the Y82C and G253D E.coli enzymes, provide additional circumstantial evidence that the somatic mutations in APC, and the occurrence of FAP in Family N, are due to a reduced ability of the Y165C and G382D hMYH enzymes to recognize and repair OG:A mismatches.
|
12628248 |
2003 |
|
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 |
|
rs587782868
|
|
Adenomatous Polyposis Coli
|
|
0.030 |
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 |
|
rs465899
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
We analyzed three single-nucleotide polymorphisms (SNPs) (rs2229992, rs42427, rs465899) at the exon region of APC.
|
15768050 |
2005 |
|
rs1801166
|
|
Adenomatous Polyposis Coli
|
|
0.040 |
GeneticVariation
|
BEFREE |
The APC E1317Q variant was detected in 1.25% individuals undergoing testing.
|
17920230 |
2007 |
|
rs777980327
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
Relationships between adenomatous polyposis coli (APC) mutations, BRAF V600E mutations, and the CpG island methylator phenotype (CIMP) in colon cancer have not been explored.
|
17293392 |
2007 |
|
rs773985321
|
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, p.Val600_Lys601delinsGlu) in a serrated adenoma; the patient has familial adenomatous polyposis with a germline mutation of the APC gene (c.3578delA, p.Gln1193ArgfsX1264).
|
17696956 |
2007 |