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rs1057519865
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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.
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28276867 |
2017 |
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rs1057519865
|
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0.100 |
GeneticVariation |
BEFREE |
The results of this case study indicated that although FOXL2 402C > G mutation determines the development of granulosa cell tumor, PMS2 mutation may be the initial driver of carcinogenesis.
|
28347324 |
2017 |
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rs1057519865
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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).
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26893359 |
2016 |
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rs1057519865
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0.100 |
GeneticVariation |
BEFREE |
We also undertook FOXL2 and DICER1 mutation analysis in these cases; a somatic missense mutation in codon C134W (402C→G) of FOXL2 gene has been demonstrated in the vast majority (>95%) of ovarian adult granulosa cell tumors and somatic DICER1 mutations are found in approximately 60% of ovarian Sertoli-Leydig cell tumors.
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26598979 |
2016 |
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rs1057519865
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0.100 |
GeneticVariation |
BEFREE |
We propose that the 402C > G mutation in FOXL2 is critical to the development of adult granulosa cell tumor.
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25297715 |
2014 |
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rs1057519865
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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.
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24689977 |
2014 |
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rs1057519865
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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 |
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rs1057519865
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|
0.100 |
GeneticVariation |
BEFREE |
A single somatic FOXL2 mutation (FOXL2(C134W)) was identified in almost all granulosa cell tumor (GCT) patients.
|
23567549 |
2013 |
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rs1057519865
|
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|
0.100 |
GeneticVariation |
BEFREE |
Recently, a single point missense mutation (C134W) was found in the FOXL2 gene in approximately 95% of adult-type granulosa cell tumors, suggesting a key role for FOXL2 in these tumors.
|
23875665 |
2013 |
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rs1057519865
|
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|
0.100 |
GeneticVariation |
BEFREE |
The FOXL2(C134W) mutation has been identified in virtually all adult granulosa cell tumors (GCTs).
|
23523567 |
2013 |
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rs1057519865
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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 |
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rs1057519865
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0.100 |
GeneticVariation |
BEFREE |
The FOXL2 mutation (c.402C>G) in adult-type ovarian granulosa cell tumors of three Japanese patients: clinical report and review of the literature.
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24257635 |
2013 |
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rs1057519865
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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 |
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rs1057519865
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0.100 |
GeneticVariation |
BEFREE |
Recently, a somatic FOXL2 mutation (p.C134W) has been reported in >95% of adult-type granulosa cell tumors.
|
22544055 |
2012 |
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rs1057519865
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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 |
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rs1057519865
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|
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 |
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rs1057519865
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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 |
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rs1057519865
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0.100 |
GeneticVariation |
BEFREE |
Mutational analysis (c.402C>G) of the FOXL2 gene and immunohistochemical expression of the FOXL2 protein in testicular adult type granulosa cell tumors and incompletely differentiated sex cord stromal tumors.
|
21293260 |
2011 |
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rs1057519865
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0.100 |
GeneticVariation |
BEFREE |
FOXL2 C402G mutation detection using MALDI-TOF-MS in DNA extracted from Israeli granulosa cell tumors.
|
21640373 |
2011 |
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rs1057519865
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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 |
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rs1057519865
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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 |
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rs1057519865
|
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|
0.100 |
GeneticVariation |
BEFREE |
Recently, a new mutation in FOXL2, c.402C→G leading to a p.C134W change, was reported to be found in 97% of adult-type ovarian granulosa cell tumors (GCTs) tested.
|
21051974 |
2010 |
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rs1057519865
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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 |
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rs1057519865
|
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|
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 |