Most T790M mutations are present on the same EGFR allele as activating mutations in patients with non-small cell lung cancer.
Sign Up to like & getrecommendations! Published in 2017 at "Lung cancer"
DOI: 10.1016/j.lungcan.2017.02.019
Abstract: OBJECTIVES The T790M and C797S mutations of the epidermal growth factor receptor gene (EGFR) confer resistance to first- and third-generation EGFR tyrosine kinase inhibitors (TKIs), respectively, in patients with non-small cell lung cancer (NSCLC) harboring… read more here.
Keywords: cell; lung cancer; activating mutations; t790m ... See more keywords
Effects of secondary EGFR mutations on resistance against upfront osimertinib in cells with EGFR-activating mutations in vitro.
Sign Up to like & getrecommendations! Published in 2018 at "Lung cancer"
DOI: 10.1016/j.lungcan.2018.10.026
Abstract: OBJECTIVES Non-small cell lung cancers (NSCLCs) that harbor activating mutations for epidermal growth factor receptor (EGFR) show remarkable initial response to EGFR-tyrosine kinase inhibitors (TKIs), but inevitably acquire resistance, half of which are due to… read more here.
Keywords: egfr mutations; egfr tkis; resistance; activating mutations ... See more keywords
Identification of Activating Mutations in the Transmembrane and Extracellular Domains of EGFR
Sign Up to like & getrecommendations! Published in 2022 at "Biochemistry"
DOI: 10.1021/acs.biochem.2c00384
Abstract: The epidermal growth factor receptor (EGFR) is frequently mutated in human cancer, most notably non-small-cell lung cancer and glioblastoma. While many frequently occurring EGFR mutations are known to confer constitutive EGFR activation, the situation is… read more here.
Keywords: identification activating; mutations egfr; activating mutations; domains egfr ... See more keywords
Activating mutations in CSF-1R and additional receptor tyrosine kinases in histiocytic neoplasms
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DOI: 10.1038/s41591-019-0653-6
Abstract: Histiocytoses are clonal hematopoietic disorders frequently driven by mutations mapping to the BRAF and MEK1 and MEK2 kinases. Currently, however, the developmental origins of histiocytoses in patients are not well understood, and clinically meaningful therapeutic… read more here.
Keywords: additional receptor; mutations csf; receptor tyrosine; activating mutations ... See more keywords
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
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DOI: 10.1093/hmg/ddz194
Abstract: Single germline or somatic activating mutations of mTOR pathway genes are emerging as a major cause of Type II Focal Cortical Dysplasia (FCD), hemimegalencephaly (HME), and Tuberous Sclerosis Complex (TSC). A double hit mechanism, based… read more here.
Keywords: double hit; hemimegalencephaly; rps6; mtor ... See more keywords
Structure-based design and characterization of Parkin-activating mutations
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DOI: 10.1101/2022.02.22.481412
Abstract: Parkin, an E3 ubiquitin ligase involved in Parkinson’s disease, is inactive in the basal state and is activated by PINK1 to mediate mitophagy. Here, we characterized 31 mutations and discovered three that activate Parkin and… read more here.
Keywords: activating mutations; parkinson disease; design; structure based ... See more keywords
Frequent PIK3CA activating mutations in nipple adenomas
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DOI: 10.1111/his.13043
Abstract: Nipple adenoma (NA) is a rare benign epithelial tumour occurring in the nipple. Histologically, it exhibits variable and often mixed adenosis‐like and usual ductal hyperplasia‐like growth patterns. Morphologically, it is similar to other benign proliferative… read more here.
Keywords: mutations nipple; frequent pik3ca; nipple adenomas; pik3ca ... See more keywords
A New View of Activating Mutations in Cancer
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DOI: 10.1158/0008-5472.can-22-2125
Abstract: Abstract A vast effort has been invested in the identification of driver mutations of cancer. However, recent studies and observations call into question whether the activating mutations or the signal strength are the major determinant… read more here.
Keywords: mutations cancer; activating mutations; signal strength; cancer ... See more keywords
Classification of KRAS-Activating Mutations and the Implications for Therapeutic Intervention.
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DOI: 10.1158/2159-8290.cd-22-0035
Abstract: Members of the family of RAS proto-oncogenes, discovered just over 40 years ago, were among the first cancer-initiating genes to be discovered. Of the three RAS family members, KRAS is the most frequently mutated in… read more here.
Keywords: classification kras; kras activating; activating mutations; mutations implications ... See more keywords
CCL3 is a key mediator for the leukemogenic effect of Ptpn11-activating mutations in the stem-cell microenvironment.
Sign Up to like & getrecommendations! Published in 2017 at "Blood"
DOI: 10.1182/blood-2017-06-791103
Abstract: To the editor: Germ line–activating mutations of protein tyrosine phosphatase PTPN11 (Shp2), a positive regulator of the Ras signaling pathway,[1][1] account for more than 50% of patients with Noonan syndrome.[2][2] These patients have an increased… read more here.
Keywords: ptpn11; ccl3 key; activating mutations; key mediator ... See more keywords
Partial trisomy 21 contributes to T-cell malignancies induced by JAK3-activating mutations in murine models.
Sign Up to like & getrecommendations! Published in 2018 at "Blood advances"
DOI: 10.1182/bloodadvances.2018016089
Abstract: JAK3-activating mutations are commonly seen in chronic or acute hematologic malignancies affecting the myeloid, megakaryocytic, lymphoid, and natural killer (NK) cell compartment. Overexpression models of mutant JAK3 or pharmacologic inhibition of its kinase activity have… read more here.
Keywords: jak3; jak3 activating; partial trisomy; activating mutations ... See more keywords