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Analysis of tumor abnormal protein expression and epidermal growth factor receptor mutation status in non-small cell lung cancer
BackgroundThe level of tumor abnormal protein (TAP) level has a significant impact on tumor growth, recurrence, and metastasis. Previous studies have...
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Case report: Glycaemic management and pregnancy outcomes in a woman with an insulin receptor mutation, p.Met1180Lys
BackgroundHeterozygous insulin receptor mutations (INSR) are associated with insulin resistance, hyperglycaemia and hyperinsulinaemic hypoglycaemia...
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Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation
BackgroundMutations in the NMDA receptor are known to disrupt glutamatergic signaling crucial for early neurodevelopment, often leading to severe...
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Apparent diffusion coefficient value of brain metastasis from lung carcinoma as potential predictor of epidermal growth factor receptor mutation
BackgroundLung carcinoma metastases to the brain occurred in 40% of all lung carcinoma cases and it occupied the top ranking of mortality of cancers....
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High accuracy epidermal growth factor receptor mutation prediction via histopathological deep learning
BackgroundThe detection of epidermal growth factor receptor (EGFR) mutations in patients with non-small cell lung cancer is critical for tyrosine...
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Prediction of epidermal growth factor receptor mutation status by textural features in stage IV lung adenocarcinoma
BackgroundThe purpose of this study was to assess the correlation between textural features from 18fluorodeoxyglucose positron emission tomography...
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An epidermal growth factor receptor compound mutation of L858R with S768I in advanced non-small-cell lung cancer: a case report
BackgroundIn the current treatment landscape for non-small cell lung cancers, epidermal growth factor receptor-tyrosine kinase inhibitors have...
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A phase I trial of the pan-ERBB inhibitor neratinib combined with the MEK inhibitor trametinib in patients with advanced cancer with EGFR mutation/amplification, HER2 mutation/amplification, HER3/4 mutation or KRAS mutation
PurposeAberrant alterations of ERBB receptor tyrosine kinases lead to tumorigenesis. Single agent therapy targeting EGFR or HER2 has shown clinical...
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Differences in somatic TP53 mutation type in breast tumors by race and receptor status
PurposeSomatic driver mutations in TP53 are associated with triple-negative breast cancer (TNBC) and poorer outcomes. Breast cancers in women of...
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Feasibility analysis of rapid gene detection using intraoperative frozen tissues: comparison of intraoperative frozen tissues with paraffin-embedded tissues in epidermal growth factor receptor gene mutation detection of lung adenocarcinoma
BackgroundEpidermal growth factor receptor (EGFR) is the driver gene with the highest frequency of mutations in lung adenocarcinoma and can guide the...
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Case Report: a Novel Nonsense Mutation in the Androgen Receptor Gene Causing the Complete Androgen Insensitivity Syndrome
Androgen insensitivity syndrome (AIS) is a rare X-linked genetic disorder caused by mutations in the androgen receptor (AR) gene. AIS can be divided...
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Epidermal growth factor receptor inhibitors as adjuvant treatment for patients with resected non-small cell lung cancer harboring EGFR mutation: a meta-analysis of randomized controlled clinical trials
BackgroundThe epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) is still under investigation as adjuvant treatment for...
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Breast cancers in monoallelic MUTYH germline mutation carriers have clinicopathological features overlap** with those in BRCA1 germline mutation carriers
PurposeBreast cancer patients referred to genetic counseling often undergo genetic testing with broad panels that include both breast cancer...
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A destabilizing Y891D mutation in activated EGFR impairs sensitivity to kinase inhibition
EGFR tyrosine kinase inhibitors (TKIs) have transformed the treatment of EGFR-mutated non-small cell lung carcinoma (NSCLC); however, therapeutic...
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Novel AIP mutation in exon 6 causing acromegaly in a German family
The most frequent genetic alteration of familial isolated growth hormone producing pituitary neuroendocrine tumors is a germline mutation of the aryl...
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Metanephric stromal tumor in an adult with PDGFRA mutation: a case report
BackgroundMetanephric stromal tumors (MST) are rare benign renal tumors that mainly occur in infants and children. Approximately 72% of MST in...
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Utilization of in vitro maturation in cases with a FSH receptor mutation
PurposeTo identify the FSH receptor ( FSHR ) variant and efficacy of in vitro maturation (IVM) in a 28-year-old woman with secondary amenorrhea,...
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Real-World Study of Regional Differences in Patient Demographics, Clinical Characteristics, and BRCA1/2 Mutation Testing in Patients with Human Epidermal Growth Factor Receptor 2–Negative Advanced Breast Cancer in the United States, Europe, and Israel
IntroductionGenetic mutations in breast cancer susceptibility gene 1 or 2 ( BRCA1/2 ) confer a high risk for develo** breast cancer; however, at...
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Estrogen receptor positive breast cancer: contemporary nuances to sequencing therapy
The treatment landscape of hormone receptor-positive, human epidermal growth factor receptor 2-negative metastatic breast cancer has evolved...
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A deep learning model integrating multisequence MRI to predict EGFR mutation subtype in brain metastases from non-small cell lung cancer
BackgroundTo establish a predictive model based on multisequence magnetic resonance imaging (MRI) using deep learning to identify wild-type (WT)...
