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 |
UNIPROT |
|
|
|
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 |
rs137854567
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients.
|
7833931 |
1994 |
rs137854567
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
The molecular basis of Turcot's syndrome.
|
7661930 |
1995 |
rs137854567
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Somatic mutation of the APC gene in gastric cancer: frequent mutations in very well differentiated adenocarcinoma and signet-ring cell carcinoma.
|
1338691 |
1992 |
rs137854567
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene.
|
1338904 |
1992 |
rs137854567
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis.
|
27217144 |
2016 |
rs137854567
|
|
|
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 |
rs137854567
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
|
25645574 |
2015 |
rs137854567
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs137854567
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs137854567
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
|
24310308 |
2014 |
rs137854567
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
rs137854567
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |