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About 201,088 results

Atezolizumab for First-Line Treatment of Metastatic Nonsquamous NSCLC.
https://doi.org/10.1056/NEJMoa1716948
The New England Journal of Medicine; Socinski MA, Jotte RM et. al.

Jun 4th, 2018 - The cancer-cell-killing property of atezolizumab may be enhanced by the blockade of vascular endothelial growth factor-mediated immunosuppression with bevacizumab. This open-label, phase 3 study evaluated atezolizumab plus bevacizumab plus chemotherapy in patients with metastatic nonsquamous non-small-cell lung cancer (NSCLC) who had not previously received chemotherapy. We randomly assigned pa...

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
https://doi.org/10.1056/NEJMoa1307362
The New England Journal of Medicine; Navon Elkan P, Pierce SB et. al.

Feb 20th, 2014 - Polyarteritis nodosa is a systemic necrotizing vasculitis with a pathogenesis that is poorly understood. We identified six families with multiple cases of systemic and cutaneous polyarteritis nodosa, consistent with autosomal recessive inheritance. In most cases, onset of the disease occurred during childhood. We carried out exome sequencing in persons from multiply affected families of Georgia...

Combined vemurafenib and cobimetinib in BRAF-mutated melanoma.
https://doi.org/10.1056/NEJMoa1408868
The New England Journal of Medicine; Larkin J, Ascierto PA et. al.

Sep 29th, 2014 - The combined inhibition of BRAF and MEK is hypothesized to improve clinical outcomes in patients with melanoma by preventing or delaying the onset of resistance observed with BRAF inhibitors alone. This randomized phase 3 study evaluated the combination of the BRAF inhibitor vemurafenib and the MEK inhibitor cobimetinib. We randomly assigned 495 patients with previously untreated unresectable l...

Combined BRAF and MEK inhibition versus BRAF inhibition alone in melanoma.
https://doi.org/10.1056/NEJMoa1406037
The New England Journal of Medicine; Long GV, Stroyakovskiy D et. al.

Sep 29th, 2014 - Combined BRAF and MEK inhibition, as compared with BRAF inhibition alone, delays the emergence of resistance and reduces toxic effects in patients who have melanoma with BRAF V600E or V600K mutations. In this phase 3 trial, we randomly assigned 423 previously untreated patients who had unresectable stage IIIC or stage IV melanoma with a BRAF V600E or V600K mutation to receive a combination of d...

Combination of dabrafenib plus trametinib for BRAF and MEK inhibitor pretreated patient...
https://doi.org/10.1016/S1470-2045(17)30171-7
The Lancet. Oncology; Schreuer M, Jansen Y et. al.

Mar 7th, 2017 - Patients with BRAFV600-mutant melanoma benefit from treatment with the combination of BRAF and MEK inhibitors, but resistance and disease progression develops in most patients. Preclinical studies and case studies have indicated that acquired resistance to BRAF inhibition can be reversible. We aimed to assess the anti-tumour activity of rechallenge with BRAF plus MEK inhibition in a prospective...

Gefitinib Plus Chemotherapy Versus Chemotherapy in Epidermal Growth Factor Receptor Mut...
https://doi.org/10.1200/JCO.2017.73.9250
Journal of Clinical Oncology : Official Journal of the Am... Mok TSK, Kim SW et. al.

Oct 2nd, 2017 - Purpose The Iressa Mutation-Positive Multicentre Treatment Beyond ProgRESsion Study (IMPRESS) compared the continuation of gefitinib plus chemotherapy with placebo plus chemotherapy in patients with epidermal growth factor receptor ( EGFR) mutation-positive advanced non-small-cell lung cancer with progression (Response Evaluation Criteria in Solid Tumors 1.1) after first-line gefitinib. Primary...

Genomic Profiling of Small-Bowel Adenocarcinoma.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710195
JAMA Oncology; Schrock AB, Devoe CE et. al.

Jun 15th, 2017 - Small-bowel adenocarcinomas (SBAs) are rare cancers with a significantly lower incidence, later stage at diagnosis, and worse overall survival than other intestinal-derived cancers. To date, comprehensive genomic analysis of SBA is lacking. To perform in-depth genomic characterization of a large series of SBAs and other gastrointestinal tumors to draw comparisons and identify potentially clinic...

PEAK: a randomized, multicenter phase II study of panitumumab plus modified fluorouraci...
https://doi.org/10.1200/JCO.2013.53.2473
Journal of Clinical Oncology : Official Journal of the Am... Schwartzberg LS, Rivera F et. al.

Apr 1st, 2014 - To evaluate panitumumab plus modified fluorouracil, leucovorin, and oxaliplatin (mFOLFOX6) or bevacizumab plus mFOLFOX6 in patients with previously untreated wild-type (WT) KRAS exon 2 (codons 12 and 13) metastatic colorectal cancer (mCRC). A prespecified secondary objective was to assess treatment effects in an extended RAS analysis that included exons 2, 3, and 4 of KRAS and NRAS. Patients wi...

Improved overall survival in melanoma with combined dabrafenib and trametinib.
https://doi.org/10.1056/NEJMoa1412690
The New England Journal of Medicine; Robert C, Karaszewska B et. al.

Nov 17th, 2014 - The BRAF inhibitors vemurafenib and dabrafenib have shown efficacy as monotherapies in patients with previously untreated metastatic melanoma with BRAF V600E or V600K mutations. Combining dabrafenib and the MEK inhibitor trametinib, as compared with dabrafenib alone, enhanced antitumor activity in this population of patients. In this open-label, phase 3 trial, we randomly assigned 704 patients ...

Spread of artemisinin-resistant Plasmodium falciparum in Myanmar: a cross-sectional sur...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374103
The Lancet. Infectious Diseases; Tun KM, Imwong M et. al.

Feb 23rd, 2015 - Emergence of artemisinin resistance in southeast Asia poses a serious threat to the global control of Plasmodium falciparum malaria. Discovery of the K13 marker has transformed approaches to the monitoring of artemisinin resistance, allowing introduction of molecular surveillance in remote areas through analysis of DNA. We aimed to assess the spread of artemisinin-resistant P falciparum in Myan...

Paediatric mastocytosis: a systematic review of 1747 cases.
https://doi.org/10.1111/bjd.13567
The British Journal of Dermatology; Méni C, Bruneau J et. al.

Feb 10th, 2015 - Paediatric mastocytosis was previously considered to be a benign and spontaneously regressing disease. However, this evolution is impossible to predict. To clarify the characteristics and course of paediatric mastocytosis, we performed a literature review of 1747 cases published between 1950 and April 2014. Lesions occurred before the age of 2 years in 90% of cases, and presented as urticaria p...

Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4764353
The New England Journal of Medicine; Wainwright CE, Elborn JS et. al.

May 19th, 2015 - Cystic fibrosis is a life-limiting disease that is caused by defective or deficient cystic fibrosis transmembrane conductance regulator (CFTR) protein activity. Phe508del is the most common CFTR mutation. We conducted two phase 3, randomized, double-blind, placebo-controlled studies that were designed to assess the effects of lumacaftor (VX-809), a CFTR corrector, in combination with ivacaftor ...

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencin...
https://doi.org/10.1001/jama.2015.10078
JAMA Tammimies K, Marshall CR et. al.

Sep 1st, 2015 - The use of genome-wide tests to provide molecular diagnosis for individuals with autism spectrum disorder (ASD) requires more study. To perform chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) in a heterogeneous group of children with ASD to determine the molecular diagnostic yield of these tests in a sample typical of a developmental pediatric clinic. The sample consisted...

The Distinctive Mutational Spectra of Polyomavirus-Negative Merkel Cell Carcinoma.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573907
Cancer Research; Harms PW, Vats P et. al.

Aug 4th, 2015 - Merkel cell carcinoma (MCC) is a rare but highly aggressive cutaneous neuroendocrine tumor. Merkel cell polyomavirus (MCPyV) may contribute to tumorigenesis in a subset of tumors via inhibition of tumor suppressors such as retinoblastoma (RB1) by mutated viral T antigens, but the molecular pathogenesis of MCPyV-negative MCC is largely unexplored. Through our MI-ONCOSEQ precision oncology study,...

Telomerase Inhibitor Imetelstat in Patients with Essential Thrombocythemia.
https://doi.org/10.1056/NEJMoa1503479
The New England Journal of Medicine; Baerlocher GM, Oppliger Leibundgut E et. al.

Sep 3rd, 2015 - Imetelstat, a 13-mer oligonucleotide that is covalently modified with lipid extensions, competitively inhibits telomerase enzymatic activity. It has been shown to inhibit megakaryocytic proliferation in vitro in cells obtained from patients with essential thrombocythemia. In this phase 2 study, we investigated whether imetelstat could elicit hematologic and molecular responses in patients with ...

A Pilot Study of the Telomerase Inhibitor Imetelstat for Myelofibrosis.
https://doi.org/10.1056/NEJMoa1310523
The New England Journal of Medicine; Tefferi A, Lasho TL et. al.

Sep 3rd, 2015 - Current drugs for myeloproliferative neoplasm-associated myelofibrosis, including Janus kinase (JAK) inhibitors, do not induce complete or partial remissions. Imetelstat is a 13-mer lipid-conjugated oligonucleotide that targets the RNA template of human telomerase reverse transcriptase. We sought to obtain preliminary information on the therapeutic activity and safety of imetelstat in patients ...

Association Between Mutation Clearance After Induction Therapy and Outcomes in Acute My...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4621257
JAMA Klco JM, Miller CA et. al.

Aug 25th, 2015 - Tests that predict outcomes for patients with acute myeloid leukemia (AML) are imprecise, especially for those with intermediate risk AML. To determine whether genomic approaches can provide novel prognostic information for adult patients with de novo AML. Whole-genome or exome sequencing was performed on samples obtained at disease presentation from 71 patients with AML (mean age, 50.8 years) ...

The effect of early, comprehensive genomic testing on clinical care in neonatal diabete...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772451
Lancet (London, England); De Franco E, Flanagan SE et. al.

Aug 1st, 2015 - Traditional genetic testing focusses on analysis of one or a few genes according to clinical features; this approach is changing as improved sequencing methods enable simultaneous analysis of several genes. Neonatal diabetes is the presenting feature of many discrete clinical phenotypes defined by different genetic causes. Genetic subtype defines treatment, with improved glycaemic control on su...

Female Hormonal Factors and the Risk of Endometrial Cancer in Lynch Syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4688894
JAMA Dashti SG, Chau R et. al.

Jul 7th, 2015 - Apart from hysterectomy, there is no consensus recommendation for reducing endometrial cancer risk for women with a mismatch repair gene mutation (Lynch syndrome). To investigate the association between hormonal factors and endometrial cancer risk in Lynch syndrome. A retrospective cohort study included 1128 women with a mismatch repair gene mutation identified from the Colon Cancer Family Regi...

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes...
https://doi.org/10.1001/jamaneurol.2015.2274
JAMA Neurology; Ghaoui R, Cooper ST et. al.

Oct 5th, 2015 - To our knowledge, the efficacy of transferring next-generation sequencing from a research setting to neuromuscular clinics has never been evaluated. To translate whole-exome sequencing (WES) to clinical practice for the genetic diagnosis of a large cohort of patients with limb-girdle muscular dystrophy (LGMD) for whom protein-based analyses and targeted Sanger sequencing failed to identify the ...