rs121913538
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Malignant transformation of infantile hemangioma to angiosarcoma: response to chemotherapy with bevacizumab.
|
24740626 |
2014 |
rs121913538
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Malignant transformation of infantile hemangioma to angiosarcoma: response to chemotherapy with bevacizumab.
|
24740626 |
2014 |
rs121913538
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
rs121913538
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
rs180177133
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121913529
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Angiosarcoma showed a KRAS G12D point mutation, which is considered to be characteristic of vinyl chloride-induced angiosarcoma.
|
27544804 |
2016 |
rs1206992207
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The genetic bases of these tumors have been partially revealed in recent studies reporting genetic alterations such as amplifications of MYC (primarily in radiation-associated angiosarcomas), inactivating mutations in PTPRB and R707Q hotspot mutations of PLCG1.
|
26440310 |
2015 |
rs56302315
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Likewise, activating mutations in the receptor tyrosine kinase KDR (VEGFR2) have been reported in angiosarcomas and non-small cell lung cancers; the KDR A1065T mutation is reported to be sensitive to VEGFR kinase inhibitors, and fibroblast growth factor receptor inhibitors are in trials.
|
25679062 |
2015 |
rs760881374
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Together, these findings indicate that the PLCγ1-R707Q mutation causes constitutive activation of PLCγ1 and may represent an alternative way of activation of KDR/PLCγ1 signaling besides KDR activation in angiosarcomas, with implications for VEGF/KDR targeted therapies.
|
25252913 |
2014 |
rs1764391
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A polymorphism in the human connexin37 (Cx37) gene (C1019T), resulting in a non-conservative amino acid change in the regulatory C-terminus (CT) of the Cx37 protein (P319S) has been suggested to be implicated in predisposition to angiosarcomas.
|
20705954 |
2010 |