BRAF, NRAS, KIT, TERT, GNAQ/GNA11 mutation profile analysis of head and neck mucosal melanomas: a study of 42 cases.
Sign Up to like & getrecommendations! Published in 2017 at "Pathology"
DOI: 10.1016/j.pathol.2016.09.065
Abstract: Head and neck mucosal melanoma (HNMuM), which occurs mostly in the sinonasal and oral cavity, constitutes less than 1% of all malignant melanomas. Treatment options fail to improve the prognosis of this aggressive tumour that… read more here.
Keywords: tert gnaq; gnaq gna11; nras kit; braf nras ... See more keywords
GNAQ and GNA11 mutant nonuveal melanoma: a subtype distinct from both cutaneous and uveal melanoma
Sign Up to like & getrecommendations! Published in 2020 at "British Journal of Dermatology"
DOI: 10.1111/bjd.18947
Abstract: GNAQ and GNA11 mutant nonuveal melanoma represent a poorly characterized rare subgroup of melanoma with a gene mutation profile similar to uveal melanoma. read more here.
Keywords: melanoma; gnaq gna11; uveal melanoma; nonuveal melanoma ... See more keywords
Early‐onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Dermatology"
DOI: 10.1111/pde.15103
Abstract: Cutaneous capillary malformations (CMs) describe a group of vascular birthmarks with heterogeneous presentations. CMs may present as an isolated finding or with other associations, including glaucoma and leptomeningeal angiomatosis (i.e., Sturge–Weber syndrome) or pigmentary birthmarks… read more here.
Keywords: hypertension; cutaneous capillary; early onset; gnaq gna11 ... See more keywords
Mutations of GNAQ, GNA11, SF3B1, EIF1AX, PLCB4 and CYSLTR in Uveal Melanoma in Chinese Patients
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Research"
DOI: 10.1159/000502888
Abstract: Background: The purpose of this study is to determine the mutation frequencies of key driver genes in uveal melanoma (UM) in Chinese patients and to detect associations between metastasis and the mutation of these genes.… read more here.
Keywords: melanoma chinese; gnaq gna11; metastasis; uveal melanoma ... See more keywords
GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal Hemangioma
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DOI: 10.3390/cancers11071031
Abstract: Several tumors, including uveal melanoma, show somatic mutations of GNAQ/GNA11. Circumscribed choroidal hemangioma is a benign tumor that becomes symptomatic in adulthood. In some patients, morphologic examination of biopsies is required for differential diagnosis between… read more here.
Keywords: choroidal hemangioma; circumscribed choroidal; gnaq gna11; q209r mutations ... See more keywords