|
rs1057519865
|
FOXL2;FOXL2NB
|
Carcinogenesis
|
|
0.010 |
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 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Malignant neoplasm of ovary
|
|
0.010 |
GeneticVariation |
BEFREE |
A somatic missense mutation in the forkhead box L2 (FOXL2) gene (C134W) is unique to adult GCT, and absent in other ovarian cancers.
|
26791928 |
2016 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Sertoli-Leydig Cell Tumor
|
|
0.010 |
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.
|
26598979 |
2016 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Gonorrhea
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently, a highly recurrent somatic FOXL2 mutation leading to the p.C134W subtitution has been linked to the development of GC tumours in the adult, which account for up to 5% of ovarian malignancies.
|
24049064 |
2014 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
fibroma
|
|
0.010 |
GeneticVariation |
BEFREE |
FOXL2 (402C→G) mutation was not demonstrated in any of the 22 cellular or mitotically active cellular fibromas.
|
23774170 |
2013 |
|
rs529612732
|
FOXL2;FOXL2NB
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
|
0.010 |
GeneticVariation |
BEFREE |
A multi-mutation of FOXL2, consisting of the expansion of the polyalanine tract from 14 to 24 residues (FOXL2-Ala24), an novel Y186C substitution from c.557A>G, and a synonymous variant (c.505G>A), had a cumulative effect on ovarian phenotypes in BPES patients.
|
22926839 |
2012 |
|
rs1057516159
|
FOXL2;FOXL2NB
|
Ovarian Failure, Premature
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a novel missense mutation in the forkhead domain of the FOXL2 gene (c.340A > G, NM_023067) resulted in the replacement of lysine by glutamic acid at amino acid position 114 of the FOXL2 protein (p.K114E, NP_075555) that was identified in a Chinese family with BPES type I, members of which displayed clinical symptoms such as shortened palpebral fissures, drooping eyelids, a vertical skin fold arising from the lower eyelid, and premature ovarian failure (POF) in affected females.
|
21068205 |
2011 |
|
rs1057516159
|
FOXL2;FOXL2NB
|
skin fold (abnormality)
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a novel missense mutation in the forkhead domain of the FOXL2 gene (c.340A > G, NM_023067) resulted in the replacement of lysine by glutamic acid at amino acid position 114 of the FOXL2 protein (p.K114E, NP_075555) that was identified in a Chinese family with BPES type I, members of which displayed clinical symptoms such as shortened palpebral fissures, drooping eyelids, a vertical skin fold arising from the lower eyelid, and premature ovarian failure (POF) in affected females.
|
21068205 |
2011 |
|
rs1057516159
|
FOXL2;FOXL2NB
|
Premature Menopause
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a novel missense mutation in the forkhead domain of the FOXL2 gene (c.340A > G, NM_023067) resulted in the replacement of lysine by glutamic acid at amino acid position 114 of the FOXL2 protein (p.K114E, NP_075555) that was identified in a Chinese family with BPES type I, members of which displayed clinical symptoms such as shortened palpebral fissures, drooping eyelids, a vertical skin fold arising from the lower eyelid, and premature ovarian failure (POF) in affected females.
|
21068205 |
2011 |
|
rs1057516159
|
FOXL2;FOXL2NB
|
BPES type I
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a novel missense mutation in the forkhead domain of the FOXL2 gene (c.340A > G, NM_023067) resulted in the replacement of lysine by glutamic acid at amino acid position 114 of the FOXL2 protein (p.K114E, NP_075555) that was identified in a Chinese family with BPES type I, members of which displayed clinical symptoms such as shortened palpebral fissures, drooping eyelids, a vertical skin fold arising from the lower eyelid, and premature ovarian failure (POF) in affected females.
|
21068205 |
2011 |
|
rs1057516159
|
FOXL2;FOXL2NB
|
eyelids (symptom)
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a novel missense mutation in the forkhead domain of the FOXL2 gene (c.340A > G, NM_023067) resulted in the replacement of lysine by glutamic acid at amino acid position 114 of the FOXL2 protein (p.K114E, NP_075555) that was identified in a Chinese family with BPES type I, members of which displayed clinical symptoms such as shortened palpebral fissures, drooping eyelids, a vertical skin fold arising from the lower eyelid, and premature ovarian failure (POF) in affected females.
|
21068205 |
2011 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Sex Cord-Stromal Tumor
|
|
0.010 |
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 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Adult Type Ovarian Granulosa Cell Tumor
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional exploration of the adult ovarian granulosa cell tumor-associated somatic FOXL2 mutation p.Cys134Trp (c.402C>G).
|
20098707 |
2010 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Solid Neoplasm
|
|
0.010 |
GeneticVariation |
BEFREE |
The specificity of the FOXL2 c.402C>G somatic mutation: a survey of solid tumors.
|
19956657 |
2009 |
|
rs121908359
|
FOXL2;FOXL2NB
|
Premature Menopause
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a FOXL2 variant (p.Gly187Asp) in a case of POF without BPES.
|
19429596 |
2009 |
|
rs121908359
|
FOXL2;FOXL2NB
|
Ovarian Failure, Premature
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a FOXL2 variant (p.Gly187Asp) in a case of POF without BPES.
|
19429596 |
2009 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Gynandroblastoma
|
|
0.020 |
GeneticVariation |
BEFREE |
Two DICER1 wild-type gynandroblastomas harbored a p.C134W FOXL2 hotspot mutation in both tumor components.
|
26428316 |
2015 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Ovarian Granulosa Cell Tumor
|
|
0.020 |
GeneticVariation |
BEFREE |
Our findings suggest that FOXL2 p.C134W mutation-positive adult-type GCT of the ovary may not be common in the Japanese as compared to the previous data.
|
24689977 |
2014 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Gynandroblastoma
|
|
0.020 |
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
|
Ovarian Granulosa Cell Tumor
|
|
0.020 |
GeneticVariation |
BEFREE |
Functional exploration of the adult ovarian granulosa cell tumor-associated somatic FOXL2 mutation p.Cys134Trp (c.402C>G).
|
20098707 |
2010 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Malignant Neoplasms
|
|
0.030 |
GeneticVariation |
BEFREE |
Adult-type granulosa cell tumors of the ovary (aGCTs) are rare gynecologic malignancies that exhibit a high frequency of somatic FOXL2 c.C402G (p.Cys134Trp) mutation.
|
29950560 |
2018 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Malignant Neoplasms
|
|
0.030 |
GeneticVariation |
BEFREE |
Recently, a highly recurrent somatic FOXL2 mutation leading to the p.C134W subtitution has been linked to the development of GC tumours in the adult, which account for up to 5% of ovarian malignancies.
|
24049064 |
2014 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Malignant Neoplasms
|
|
0.030 |
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
|
Adult Type Granulosa Cell Tumor
|
|
0.050 |
GeneticVariation |
BEFREE |
FOXL2 402C>G Mutation Can Be Identified in the Circulating Tumor DNA of Patients with Adult-Type Granulosa Cell Tumor.
|
27810330 |
2017 |
|
rs1057519865
|
FOXL2;FOXL2NB
|
Adult Type Granulosa Cell Tumor
|
|
0.050 |
GeneticVariation |
BEFREE |
Recent molecular studies have characterized the FOXL2 402C > G mutation in adult-type granulosa cell tumor.
|
25297715 |
2014 |