|
rs121913355
|
|
Abnormal involuntary eye movements
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs397507478
|
|
Abnormality of temperature regulation
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs121913355
|
|
Absent eyebrow
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121913355
|
|
Absent eyelashes
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121913377
|
|
Acral Lentiginous Malignant Melanoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
BRAF mutation frequency depended on histological subtype (57.4% superficial spreading melanoma, 54.7% nodular melanoma, 11.1% mucosal melanoma, 28.6% acral lentiginous melanoma) and concerning non-V600E BRAF mutations on localization of primary.
|
26138035 |
2015 |
|
rs121913377
|
|
Acral Lentiginous Malignant Melanoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
The mutation of BRAF p.V600E was detected in 13 cases of ALM (65.0%) and 12 cases of SSM (70.6%).
|
25766129 |
2015 |
|
rs113488022
|
|
Acral Lentiginous Malignant Melanoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
BRAF mutation frequency depended on histological subtype (57.4% superficial spreading melanoma, 54.7% nodular melanoma, 11.1% mucosal melanoma, 28.6% acral lentiginous melanoma) and concerning non-V600E BRAF mutations on localization of primary.
|
26138035 |
2015 |
|
rs113488022
|
|
Acral Lentiginous Malignant Melanoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
The mutation of BRAF p.V600E was detected in 13 cases of ALM (65.0%) and 12 cases of SSM (70.6%).
|
25766129 |
2015 |
|
rs121913377
|
|
Acromegaly
|
|
0.010 |
GeneticVariation
|
BEFREE |
Despite the relation of BRAF V600E and NRAS codon 61 mutations with aggresive histopathologic features, their impact on tumor prognosis remains to be defined in acromegaly in further studies.
|
26575115 |
2016 |
|
rs113488022
|
|
Acromegaly
|
|
0.010 |
GeneticVariation
|
BEFREE |
Despite the relation of BRAF V600E and NRAS codon 61 mutations with aggresive histopathologic features, their impact on tumor prognosis remains to be defined in acromegaly in further studies.
|
26575115 |
2016 |
|
rs121913377
|
|
ACTH-Secreting Pituitary Adenoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we report recurrent mutations in the deubiquitinase gene USP48 (predominantly encoding p.M415I or p.M415V; 21/91 subjects) and BRAF (encoding p.V600E; 15/91 subjects) in corticotroph adenomas with wild-type USP8.
|
30093687 |
2018 |
|
rs113488022
|
|
ACTH-Secreting Pituitary Adenoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we report recurrent mutations in the deubiquitinase gene USP48 (predominantly encoding p.M415I or p.M415V; 21/91 subjects) and BRAF (encoding p.V600E; 15/91 subjects) in corticotroph adenomas with wild-type USP8.
|
30093687 |
2018 |
|
rs121913377
|
|
Actinic cheilitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
LOH and TP53 mutations detected in LSCC and AC may be associated with tumorigenesis, whereas BRAF V600E mutation does not seem to significantly contribute to LSCC pathogenesis.
|
26084614 |
2015 |
|
rs113488022
|
|
Actinic cheilitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
LOH and TP53 mutations detected in LSCC and AC may be associated with tumorigenesis, whereas BRAF V600E mutation does not seem to significantly contribute to LSCC pathogenesis.
|
26084614 |
2015 |
|
rs121913377
|
|
Actinic keratosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Compared to patients with BRAF wild-type melanomas, those with BRAF(V600E) mutants were significantly younger, had more nevi but fewer actinic keratoses, were more likely to report a family history of melanoma, and had tumors that were more likely to harbor neval remnants.
|
26807515 |
2016 |
|
rs113488022
|
|
Actinic keratosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Compared to patients with BRAF wild-type melanomas, those with BRAF(V600E) mutants were significantly younger, had more nevi but fewer actinic keratoses, were more likely to report a family history of melanoma, and had tumors that were more likely to harbor neval remnants.
|
26807515 |
2016 |
|
rs121913377
|
|
Acute Promyelocytic Leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia.
|
22845480 |
2012 |
|
rs113488022
|
|
Acute Promyelocytic Leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia.
|
22845480 |
2012 |
|
rs121913377
|
|
Adamantinous Craniopharyngioma
|
|
0.050 |
GeneticVariation
|
BEFREE |
BRAF V600E and CTNNB1 in papCP and adaCP samples were sequenced by next-generation sequencing and the Sanger method, and mRNA expression levels of Axin2 and BMP4 were evaluated by RT-PCR.
|
30074466 |
2018 |
|
rs121913377
|
|
Adamantinous Craniopharyngioma
|
|
0.050 |
GeneticVariation
|
BEFREE |
In this study, we first evaluated BRAF V600E and CTNNB1 mutations in four and 14 cases of pCP and aCP, respectively, using high-resolution melting analysis followed by Sanger sequencing.
|
28840946 |
2018 |
|
rs121913377
|
|
Adamantinous Craniopharyngioma
|
|
0.050 |
GeneticVariation
|
BEFREE |
BRAF V600E mutations render PCP susceptible to BRAF/MEK inhibitors, but effective targeted therapies are needed for ACP.
|
29509940 |
2018 |
|
rs121913377
|
|
Adamantinous Craniopharyngioma
|
|
0.050 |
GeneticVariation
|
BEFREE |
The authors have previously shown high mutation rates of BRAF V600E in papillary craniopharyngioma and of CTNNB1 in adamantinomatous craniopharyngioma.
|
27903124 |
2016 |
|
rs121913377
|
|
Adamantinous Craniopharyngioma
|
|
0.050 |
GeneticVariation
|
BEFREE |
The genetic analysis with whole-exome sequencing studies showed no differential mutations of CTNNB1 (β-catenin) and BRAF (V600E) between TC and NC subtypes, but there was a difference between adamantinomatous craniopharyngioma and papillary craniopharyngioma.
|
31200374 |
2019 |
|
rs113488022
|
|
Adamantinous Craniopharyngioma
|
|
0.050 |
GeneticVariation
|
BEFREE |
BRAF V600E and CTNNB1 in papCP and adaCP samples were sequenced by next-generation sequencing and the Sanger method, and mRNA expression levels of Axin2 and BMP4 were evaluated by RT-PCR.
|
30074466 |
2018 |
|
rs113488022
|
|
Adamantinous Craniopharyngioma
|
|
0.050 |
GeneticVariation
|
BEFREE |
The authors have previously shown high mutation rates of BRAF V600E in papillary craniopharyngioma and of CTNNB1 in adamantinomatous craniopharyngioma.
|
27903124 |
2016 |