|
rs1057516168
|
FOXL2;FOXL2NB
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
|
0.710 |
GeneticVariation |
BEFREE |
DNA sequence analysis showed that the BPES phenotype in this family was caused by a novel missense mutation, c.881A->G (p.Y215C).
|
15257268 |
2004 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
granulosa cell tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently, we reported the identification of a somatic FOXL2 402C-->G mutation that is present in virtually all adult-type granulosa cell tumors, but not in a wide range of other tumor types.
|
19996294 |
2009 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
granulosa cell tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
In addition to proving that the KGN cell line is a useful model to study A-GCTs, these data show that the c.402C>G mutation in FOXL2 is not commonly found in a wide variety of other cancers and therefore it is likely pathognomonic for A-GCTs and closely related tumors.
|
19956657 |
2009 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
granulosa cell tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
We propose that the 402C > G mutation in FOXL2 is critical to the development of adult granulosa cell tumor.
|
25297715 |
2014 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
granulosa cell tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
We found that FOXL2 (C402G) mutation was present in 19/27 (70%) of the adult type tumors but in none of the juvenile granulosa cell tumors (0/18).
|
21623383 |
2011 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
granulosa cell tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
Aromatase is a direct target of FOXL2: C134W in granulosa cell tumors via a single highly conserved binding site in the ovarian specific promoter.
|
21188138 |
2010 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Neoplasms
|
|
0.100 |
GeneticVariation |
BEFREE |
FOXL2 examination demonstrated that both portions of the primary tumor did not have a point mutation (402C→G) specific to AGCT.
|
30950114 |
2019 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
granulosa cell tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
Ovarian granulosa cell tumors (GCT) are hormonally-active neoplasms characterized, in the adult-subtype, by a mutation in the FOXL2 gene (C134W).
|
26893359 |
2016 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
granulosa cell tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
The FOXL2 402C→G (C134W) mutation is also present in adult-type granulosa cell tumors occurring in men, although in a smaller proportion when compared with the rates reported in women.
|
22742556 |
2012 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Neoplasms
|
|
0.100 |
GeneticVariation |
BEFREE |
However, we did not identify any mutations in 54 oncogenes and tumor suppressor genes (including CTNNB1) by next-generation sequencing analysis, and PCR Sanger sequencing did not reveal FOXL2 C134W mutation, suggesting the possibility of heterogenous pathogenesis of these tumors.
|
30676431 |
2020 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
granulosa cell tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
Adult-type granulosa cell tumors are molecularly characterized by a pathognomonic somatic missense point mutation 402C->G (C134W) in the transcription factor FOXL2.
|
28276867 |
2017 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Neoplasms
|
|
0.100 |
GeneticVariation |
BEFREE |
The C134W (402 C>G) FOXL2 mutation is absent in ovarian gynandroblastoma: insights into the genesis of an unusual tumour.
|
22296244 |
2012 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
granulosa cell tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
Our data provide confirmation of the frequent presence of the FOXL2 C134W mutation in adult granulosa cell tumors and demonstrate that the mutation is not associated with altered FOXL2 expression.
|
20693978 |
2010 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Gastrointestinal Carcinoid Tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
The histogenesis of these tumours is unknown and, in view of the very strong association between the C134W (402 C>G) FOXL2 mutation and adult-type GCT, we analysed a series of gynandroblastomas for this mutation.
|
22296244 |
2012 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
granulosa cell tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
To assess whether FOXL2 p.C134W mutation may play a role in the development of human ovarian tumors in the Japanese, we investigated the FOXL2 codon 134 mutation and protein expression of inhibin-α, bone morphogenetic protein 2 (BMP2) and follistatin (FST) in Japanese patients with granulosa cell tumor (GCT) of the ovary and other ovarian tumors.
|
24689977 |
2014 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
granulosa cell tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
Overexpression of wild-type but not C134W mutant FOXL2 enhances GnRH-induced cell apoptosis by increasing GnRH receptor expression in human granulosa cell tumors.
|
23372819 |
2013 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Neoplasms
|
|
0.100 |
GeneticVariation |
BEFREE |
FOXL2 mutation analysis of both the morphologically low-grade and high-grade areas in 4 of 5 cases confirmed the presence of missense point mutation, c.402C>G, p.(Cys134Trp), providing conclusive evidence that the high-grade component represents transformation of typical AGCT rather than the coexistence of another sex cord-stromal tumor, such as juvenile granulosa cell tumor, which has been suggested for such neoplasms.
|
31162286 |
2019 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
granulosa cell tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
A single somatic FOXL2 mutation (FOXL2(C134W)) was identified in almost all granulosa cell tumor (GCT) patients.
|
23567549 |
2013 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Gastrointestinal Carcinoid Tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
Whole-transcriptome sequencing of four GCTs identified a single, recurrent somatic mutation (402C-->G) in FOXL2 that was present in almost all morphologically identified adult-type GCTs.
|
19516027 |
2009 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Gastrointestinal Carcinoid Tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
No significant differences regarding the diagnosed age, preoperative serum carbohydrate antigen 125 levels, or BMP2 immunopositivity between the FOXL2 p.C134W mutation-positive and mutation-negative were found in the adult-type GCT patients.
|
24689977 |
2014 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
granulosa cell tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently, FOXL2 c.402C>G, a new somatic mutation that leads to a p.C134W change, was found in the majority of adult-type ovarian granulosa cell tumors (GCTs).
|
21119601 |
2011 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Neoplasms
|
|
0.100 |
GeneticVariation |
BEFREE |
Genomic DNA was extracted from paraffin-embedded tissues, and was analyzed to detect the c.402C>G mutation in FOXL2 by direct sequencing.All tumors were stained with FOXL2.
|
24257635 |
2013 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Neoplasms
|
|
0.100 |
GeneticVariation |
BEFREE |
FOXL2 mutation (402C→G) has been demonstrated in >95% of ovarian adult granulosa cell tumors, only rarely in other ovarian sex cord-stromal neoplasms, and never in ovarian fibromas.
|
23774170 |
2013 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Gastrointestinal Carcinoid Tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
A single somatic FOXL2 mutation (FOXL2(C134W)) was identified in almost all granulosa cell tumor (GCT) patients.
|
23567549 |
2013 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Gastrointestinal Carcinoid Tumor
|
|
0.100 |
GeneticVariation |
BEFREE |
Overall, our study supports the view that altered interaction of FOXL2(C134W) with co-factors may underlie the pathogenesis of this mutation in GCTs.
|
23523567 |
2013 |