|
rs121434426
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Four common founder mutations were identified and included two FANCA mutations (c.2546delC and c.3720_3724delAAACA) and two FANCG mutations (c.307+1G>C and c.1066C>T), which had previously been commonly observed in a Japanese FA population.
|
23067021 |
2013 |
|
rs121917783
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Accordingly, a homozygous inactivating FANCC nonsense mutation (c.553C > T, p.R185X) was identified in HuH-7, resulting in partial transcriptional skipping of exon 6 and leading to the classic cellular FA hypersensitivity phenotype; HuH-7 cells exhibited a strongly reduced proliferation rate and a pronounced G2 cell cycle arrest at distinctly lower concentrations of ICL-agents than a panel of non-isogenic, FA pathway-proficient HCC cell lines.
|
20509860 |
2010 |
|
rs104886458
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A known mutant allele of FAC resulting from the substitution of Pro for Leu at codon 554 fails to correct the sensitivity of FA group C cells to mitomycin C. We reasoned that overexpression of the mutant protein in a wild-type cellular background might induce the FA phenotype by competing with endogenous FAC for binding to the accessory proteins.
|
8613549 |
1996 |
|
rs104886458
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A T-to-C transition at base 1,661 in the open reading frame is the only change found to date in the FA(C) cell line, resulting in a codon substitution from leucine554 to proline.
|
8499901 |
1993 |
|
rs765576835
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Therefore, the hypomorphic Leu153Ser mutation represents the first example of a FANCD2 defect that might promote clonal progression of tumors, such as T-ALL, and severe chemotherapy toxicity in patients without any clinical manifestations typical of FA.
|
17096012 |
2007 |
|
rs765576835
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We describe a pedigree with FANCD2 mutations c.458T > C (p.Leu153Ser) and c.2715 + 1G > A (p.Glu906LeufsX4) with mild phenotype FA in the index case, T cell ALL in the Leu153Ser heterozygous brother and testicular seminoma in the p.Glu906LeufsX4 heterozygous father.
|
22829014 |
2012 |
|
rs780813696
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The HNF4A p.R76W mutation causes congenital hyperinsulinism with Fanconi syndrome.
|
25819479 |
2015 |
|
rs780813696
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The HNF4A R76W mutation is an unusual example of a mutation specific phenotype, with autosomal dominant atypical Fanconi syndrome in addition to the established beta cell phenotype.
|
24285859 |
2014 |
|
rs1055368753
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three of the amino acid changes, namely Thr561Met, Cys625Ser and particularly Ser1088Phe, which has been previously reported to be associated with FA, are predicted to be damaging by the SIFT and PolyPhen softwares. cDNA amplification revealed significant expression of 4 alternative splicing events (insertion of an intronic portion of intron 10, and the skipping of exons 11, 30 and 31).
|
23021409 |
2013 |
|
rs1057516430
|
|
|
0.010 |
GeneticVariation |
BEFREE |
DNA sequencing of the FANCA gene in 8 unrelated Spanish Gypsy FA families after retroviral subtyping revealed a homozygous FANCA mutation (295C>T) leading to FANCA truncation and FA pathway disruption.
|
15522956 |
2005 |
|
rs1057519413
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we report on a de novo g.41022153G>A; p.Ala293Thr (NM_002875) missense mutation in one allele of the homologous recombination DNA repair gene RAD51 in an FA-like patient.
|
26681308 |
2015 |
|
rs11571707
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A BRCA2 germline mutation (p.Ile2490Thr), previously reported in breast cancer and, as compound heterozygote, in Fanconi anemia, was identified in the 21-year-old patient diagnosed after pregnancy, negative for cancer family history.The tumor was not available for study.
|
19851859 |
2010 |
|
rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, there was no significant association between <i>MTHFR</i> C677T (rs1801133) or A1298C (rs1801131) polymorphisms and the clinical response to fluoropyrimidine-based chemotherapy under all of the three genetic models (allele model, dominant model, and recessive model) and stratification analysis, except for the retrospective study subgroup in the dominant model of <i>MTHFR</i> C677T and the "5-Fu <i>+</i> FA" treatment group in the allele contrast of <i>MTHFR</i> A1298C.
|
30131855 |
2018 |
|
rs139235751
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three of the amino acid changes, namely Thr561Met, Cys625Ser and particularly Ser1088Phe, which has been previously reported to be associated with FA, are predicted to be damaging by the SIFT and PolyPhen softwares. cDNA amplification revealed significant expression of 4 alternative splicing events (insertion of an intronic portion of intron 10, and the skipping of exons 11, 30 and 31).
|
23021409 |
2013 |
|
rs147105770
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Detection of the novel splice site mutation c.793-2A > G and the previously described missense mutation c.1765C > T (p.Arg589Trp) in XPF/ERCC4/FANCQ assign her as the third individual of complementation group FA-Q.
|
29325523 |
2018 |
|
rs1555524842
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An amino acid substitution in the WD40 repeats of RFWD3 (I639K) found in a new FA subtype abolishes interaction of RFWD3 with RPA, thereby preventing RFWD3 recruitment to sites of ICL-induced replication fork stalling.
|
28575657 |
2017 |
|
rs17233497
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three of the amino acid changes, namely Thr561Met, Cys625Ser and particularly Ser1088Phe, which has been previously reported to be associated with FA, are predicted to be damaging by the SIFT and PolyPhen softwares. cDNA amplification revealed significant expression of 4 alternative splicing events (insertion of an intronic portion of intron 10, and the skipping of exons 11, 30 and 31).
|
23021409 |
2013 |
|
rs1800872
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study aimed to determine the distribution of two SNPs at -1082A/G and -592A/C (rs1800896 and rs1800872, respectively) in the IL-10 gene promoter of Taiwanese food allergy (FA) patients, and also to compare the serum IL-10 levels between patients with (FA) and controls.
|
23265747 |
2012 |
|
rs1801131
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, there was no significant association between <i>MTHFR</i> C677T (rs1801133) or A1298C (rs1801131) polymorphisms and the clinical response to fluoropyrimidine-based chemotherapy under all of the three genetic models (allele model, dominant model, and recessive model) and stratification analysis, except for the retrospective study subgroup in the dominant model of <i>MTHFR</i> C677T and the "5-Fu <i>+</i> FA" treatment group in the allele contrast of <i>MTHFR</i> A1298C.
|
30131855 |
2018 |
|
rs1801133
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, there was no significant association between <i>MTHFR</i> C677T (rs1801133) or A1298C (rs1801131) polymorphisms and the clinical response to fluoropyrimidine-based chemotherapy under all of the three genetic models (allele model, dominant model, and recessive model) and stratification analysis, except for the retrospective study subgroup in the dominant model of <i>MTHFR</i> C677T and the "5-Fu <i>+</i> FA" treatment group in the allele contrast of <i>MTHFR</i> A1298C.
|
30131855 |
2018 |
|
rs200755477
|
|
|
0.010 |
GeneticVariation |
BEFREE |
By looking at the genetic etiology of FA and DSD, we have identified p.[Arg798*];[Arg798*] mutation in FANCJ (OMIM #605882) gene responsible for FA and p.[Arg108*];[Arg1497Trp] in EFCAB6 (Gene #64800) gene responsible for DSD.
|
31124294 |
2019 |
|
rs267606997
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The RAD51C missense mutation p.Arg258His has previously been identified in a homozygous state in a patient with Fanconi anemia.
|
25154786 |
2015 |
|
rs28897746
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also describe for the first time the germline mutation in BRCA2 c.8057T > C resulting in p.Leu2686Pro in our patient with confirmed FA.
|
26740091 |
2016 |
|
rs367924414
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four common founder mutations were identified and included two FANCA mutations (c.2546delC and c.3720_3724delAAACA) and two FANCG mutations (c.307+1G>C and c.1066C>T), which had previously been commonly observed in a Japanese FA population.
|
23067021 |
2013 |
|
rs397507444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, there was no significant association between <i>MTHFR</i> C677T (rs1801133) or A1298C (rs1801131) polymorphisms and the clinical response to fluoropyrimidine-based chemotherapy under all of the three genetic models (allele model, dominant model, and recessive model) and stratification analysis, except for the retrospective study subgroup in the dominant model of <i>MTHFR</i> C677T and the "5-Fu <i>+</i> FA" treatment group in the allele contrast of <i>MTHFR</i> A1298C.
|
30131855 |
2018 |