|
rs113488022
|
|
|
0.020 |
GeneticVariation |
BEFREE |
For the first time, we report concomitant presence of a somatic BRAF(V600E) mutation in an NF1 patient indicating that more than one Ras/ERK pathway component can be affected in PA.
|
21190184 |
2011 |
|
rs113488022
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our findings suggest that RAS pathway activation due to BRAF V600E and KRAS mutations is an important event in a subset of peripheral nerve sheath tumours not related to NF.
|
23190154 |
2013 |
|
rs121913377
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our findings suggest that RAS pathway activation due to BRAF V600E and KRAS mutations is an important event in a subset of peripheral nerve sheath tumours not related to NF.
|
23190154 |
2013 |
|
rs121913377
|
|
|
0.020 |
GeneticVariation |
BEFREE |
For the first time, we report concomitant presence of a somatic BRAF(V600E) mutation in an NF1 patient indicating that more than one Ras/ERK pathway component can be affected in PA.
|
21190184 |
2011 |
|
rs751563679
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A non-sense mutation C2446T --> R816X of the neurofibromin gene has been detected in some patients with the neurofibromatosis 1-Noonan's syndrome phenotype.
|
12661943 |
2003 |
|
rs2151280
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Single-nucleotide polymorphism rs2151280 (located in ANRIL) was statistically significantly associated with the number of PNFs (P < .001) in NF1 patients.
|
22034633 |
2011 |
|
rs2151280
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our findings imply that, at least in patients with NF1 microdeletions, PNF susceptibility is not associated with rs2151280.
|
23101500 |
2012 |
|
rs2151280
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our results suggest that <i>ANRIL</i> rs2151280 may be a potential diagnostic and prognostic marker, addressing early diagnosis of optic glioma and predicting the phenotype severity in NF1 patients.
|
31694342 |
2019 |
|
rs869320694
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Targeted sequencing of tissue from the right gluteal mass, revealed a mosaic activating FGFR1 c.1966A>G (p.Lys656Glu) mutation, absent in normal left gluteal tissue, confirming the diagnosis of encephalocraniocutaneous lipomatosis (ECCL), belonging to the family of RASopathies (including neurofibromatosis type I, Noonan syndrome, Costello syndrome), with constitutive activation of the mitogen-activated protein kinase (MAPK) pathway, and an increased risk of developing neoplasms.
|
29683947 |
2018 |
|
rs917411291
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Bi-allelic germline mutations in MMR genes predispose to haematological malignancies, brain tumours, gastrointestinal tumours, polyposis and features of neurofibromatosis type 1 in early childhood.We report a brother and a sister with bi-allelic germline mutations in MSH2; a pathogenic deletion of the first 6 exons and a variant of the initiation codon (c.1A>G (p.Met1?)), whereas their phenotypes (four colorectal cancers, small bowel carcinoma and 15 adenomas at age 39 and 48, and colorectal cancer, endometrial cancer and four adenomas at age 33 and 44, respectively) are more suggestive of a mono-allelic pathogenic MMR gene mutation.
|
18781192 |
2009 |
|
rs917570055
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Bi-allelic germline mutations in MMR genes predispose to haematological malignancies, brain tumours, gastrointestinal tumours, polyposis and features of neurofibromatosis type 1 in early childhood.We report a brother and a sister with bi-allelic germline mutations in MSH2; a pathogenic deletion of the first 6 exons and a variant of the initiation codon (c.1A>G (p.Met1?)), whereas their phenotypes (four colorectal cancers, small bowel carcinoma and 15 adenomas at age 39 and 48, and colorectal cancer, endometrial cancer and four adenomas at age 33 and 44, respectively) are more suggestive of a mono-allelic pathogenic MMR gene mutation.
|
18781192 |
2009 |
|
rs77375493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I.
|
18623221 |
2008 |
|
rs868408509
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we showed independent somatic NF1 mutations in all the three tumors (frameshift insertion in breast cancer (p.A985fs), missense mutation in MPNST (p.G23R), and inframe deletion in dermal neurofibroma (p.L1876del-Inf)), indicating that a second hit in NF1 resulting in the loss of function could be important for tumor formation.
|
26432421 |
2015 |
|
rs63750899
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we describe a mutation, MLH1 P648S, which was found in a typical HNPCC family, with one homozygous child displaying mild features of NF1 and no hematological cancers.
|
15139004 |
2004 |
|
rs63751615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report here that a child with this form of NF1 displays a heterozygous NF1 gene mutation (c.3721C>T), in addition to a homozygous MLH1 gene mutation (c.676C>T) leading to a truncated MLH1 protein (p.R226X).
|
17889038 |
2008 |
|
rs773647920
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Bi-allelic germline mutations in MMR genes predispose to haematological malignancies, brain tumours, gastrointestinal tumours, polyposis and features of neurofibromatosis type 1 in early childhood.We report a brother and a sister with bi-allelic germline mutations in MSH2; a pathogenic deletion of the first 6 exons and a variant of the initiation codon (c.1A>G (p.Met1?)), whereas their phenotypes (four colorectal cancers, small bowel carcinoma and 15 adenomas at age 39 and 48, and colorectal cancer, endometrial cancer and four adenomas at age 33 and 44, respectively) are more suggestive of a mono-allelic pathogenic MMR gene mutation.
|
18781192 |
2009 |
|
rs587778967
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Bi-allelic germline mutations in MMR genes predispose to haematological malignancies, brain tumours, gastrointestinal tumours, polyposis and features of neurofibromatosis type 1 in early childhood.We report a brother and a sister with bi-allelic germline mutations in MSH2; a pathogenic deletion of the first 6 exons and a variant of the initiation codon (c.1A>G (p.Met1?)), whereas their phenotypes (four colorectal cancers, small bowel carcinoma and 15 adenomas at age 39 and 48, and colorectal cancer, endometrial cancer and four adenomas at age 33 and 44, respectively) are more suggestive of a mono-allelic pathogenic MMR gene mutation.
|
18781192 |
2009 |
|
rs1421234927
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report here that a child with this form of NF1 displays a heterozygous NF1 gene mutation (c.3721C>T), in addition to a homozygous MLH1 gene mutation (c.676C>T) leading to a truncated MLH1 protein (p.R226X).
|
17889038 |
2008 |
|
rs35857561
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs35857561 polymorphism in MRVI1 may be a genetic susceptibility factor for moyamoya in European patients with neurofibromatosis type 1.
|
30001348 |
2018 |
|
rs267607911
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Bi-allelic germline mutations in MMR genes predispose to haematological malignancies, brain tumours, gastrointestinal tumours, polyposis and features of neurofibromatosis type 1 in early childhood.We report a brother and a sister with bi-allelic germline mutations in MSH2; a pathogenic deletion of the first 6 exons and a variant of the initiation codon (c.1A>G (p.Met1?)), whereas their phenotypes (four colorectal cancers, small bowel carcinoma and 15 adenomas at age 39 and 48, and colorectal cancer, endometrial cancer and four adenomas at age 33 and 44, respectively) are more suggestive of a mono-allelic pathogenic MMR gene mutation.
|
18781192 |
2009 |
|
rs768824654
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Bi-allelic germline mutations in MMR genes predispose to haematological malignancies, brain tumours, gastrointestinal tumours, polyposis and features of neurofibromatosis type 1 in early childhood.We report a brother and a sister with bi-allelic germline mutations in MSH2; a pathogenic deletion of the first 6 exons and a variant of the initiation codon (c.1A>G (p.Met1?)), whereas their phenotypes (four colorectal cancers, small bowel carcinoma and 15 adenomas at age 39 and 48, and colorectal cancer, endometrial cancer and four adenomas at age 33 and 44, respectively) are more suggestive of a mono-allelic pathogenic MMR gene mutation.
|
18781192 |
2009 |
|
rs199474750
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.
|
21838856 |
2011 |
|
rs199474750
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
|
9668168 |
1998 |
|
rs199474750
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
|
15146469 |
2004 |
|
rs199474750
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
NF1 gene analysis based on DHPLC.
|
12552569 |
2003 |