|
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 |
|
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 |
|
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 |
|
rs72541816
|
|
Adenomatous Polyposis Coli
|
|
0.720 |
GeneticVariation
|
UNIPROT |
|
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
rs876659280
|
|
Adenomatous Polyposis Coli
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs876658156
|
|
Adenomatous Polyposis Coli
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs863225371
|
|
Adenomatous Polyposis Coli
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.
|
20223039 |
2005 |
|
rs863225349
|
|
Adenomatous Polyposis Coli
|
|
0.700 |
GeneticVariation
|
UNIPROT |
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
|
25645574 |
2015 |
|
rs863225349
|
|
Adenomatous Polyposis Coli
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The molecular basis of Turcot's syndrome.
|
7661930 |
1995 |
|
rs863225349
|
|
Adenomatous Polyposis Coli
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP).
|
21368914 |
2011 |
|
rs863225349
|
|
Adenomatous Polyposis Coli
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
|
rs863225349
|
|
Adenomatous Polyposis Coli
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene.
|
1338904 |
1992 |
|
rs863225349
|
|
Adenomatous Polyposis Coli
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.
|
10470088 |
1999 |
|
rs863225349
|
|
Adenomatous Polyposis Coli
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis.
|
8990002 |
1997 |
|
rs863225349
|
|
Adenomatous Polyposis Coli
|
|
0.700 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs863225349
|
|
Adenomatous Polyposis Coli
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.
|
25452455 |
2015 |