|
Uveal melanoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma.
|
29490280 |
2018 |
|
Uveal melanoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
Sequencing of melanoma driver genes revealed GNAQ (p.Q209L) mutations in two samples; although it is possible that these samples represent extraocular spread of an occult uveal melanoma.
|
30558566 |
2018 |
|
Uveal melanoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
Whereas Q209L accounts for approximately half of GNAQ mutations in UM, Q209P is as frequent as Q209L and also promotes oncogenesis, but has not been characterized at the molecular level.
|
30352874 |
2018 |
|
Uveal melanoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
Overall, this model offers a new tool to dissect signaling by oncogenic GNAQ and to test potential therapeutics in an in vivo setting where GNAQ(Q209L) mutations contribute to both the initiation and metastatic progression of uveal melanoma.
|
26113083 |
2015 |
|
Uveal melanoma
|
|
0.740 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
We conclude that the type (Q209P/Q209L) or location of the mutation (<i>GNA11</i>/<i>GNAQ</i>) do not have a significant effect on the immunological characteristics of the tumors, such as infiltrate and HLA Class I expression.
|
31394807 |
2019 |
|
Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
Targeted genomic sequencing of 315 genes from this tumor revealed GNAQ Q209L mutation and low (4 mutations/Megabase) tumor mutation burden (TMB).
|
31663661 |
2019 |
|
Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
While full transcription levels are not necessary for GNAQ(Q209L) to transform mouse melanocytes, we obtained suggestive evidence of a selective advantage for increased GNAQ(Q209L) expression in human tumors.
|
26113083 |
2015 |
|
Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
AEB071 significantly slowed the growth of tumors in an allograft model of GNAQ(Q209L)-transduced melanocytes, but did not induce tumor shrinkage.
|
24141786 |
2014 |
|
melanoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Sequencing of melanoma driver genes revealed GNAQ (p.Q209L) mutations in two samples; although it is possible that these samples represent extraocular spread of an occult uveal melanoma.
|
30558566 |
2018 |
|
melanoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Intriguingly, enforced expression of GNAQ(Q209L) progressively eliminated melanocytes from the interfollicular epidermis in adults, possibly explaining the near absence of GNAQ(Q209) mutations in human epithelial melanomas.
|
26113083 |
2015 |
|
melanoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas.
|
22733540 |
2012 |
|
Nevus of choroid
|
|
0.010 |
GeneticVariation
|
BEFREE |
Somatic GNAQ mutations (c.626A > T; p.Gln209Leu) were found in 100% (6 of 6) of the solitary choroidal hemangiomas and (c.626A > C; p.Gln209Pro) in the choroidal nevus.
|
30537484 |
2019 |
|
Hemangioma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Somatic GNAQ mutations (c.626A > T; p.Gln209Leu) were found in 100% (6 of 6) of the solitary choroidal hemangiomas and (c.626A > C; p.Gln209Pro) in the choroidal nevus.
|
30537484 |
2019 |
|
Carcinogenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Whereas Q209L accounts for approximately half of GNAQ mutations in UM, Q209P is as frequent as Q209L and also promotes oncogenesis, but has not been characterized at the molecular level.
|
30352874 |
2018 |