Mutations

Patients with metastatic colorectal cancer harboring certain BRAF mutations may respond to anti-EGFR

Patients with metastatic colorectal cancer harboring a subset of non-V600 mutations in the BRAF gene, known as class 3 BRAF mutations, were more likely to respond to anti-EGFR treatment. Source...

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Limits to Compensatory Mutations: Insights from Temperature-Sensitive Alleles

AbstractPrevious experiments with temperature-sensitive mutants of the yeast enzyme orotidine 5′-phosphate decarboxylase (encoded in gene URA3) yielded the unexpected result that reversion occurs only through exact reversal of the original...

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Researchers identify mutations associated with treatment sensitivity, resistance in NSCLC

BARCELONA —STK11 and KEAP1 mutations appeared associated with poorer outcomes among patients with metastatic non-small cell lung cancer regardless of treatment with chemotherapy or immunotherapy, according to results of an...

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Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations

Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations Source link

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Comprehensive characterization of RAS mutations in colon and rectal cancers in old and young patients

Comprehensive characterization of RAS mutations in colon and rectal cancers in old and young patients Source link

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Limited Evolutionary Conservation of the Phenotypic Effects of Antibiotic Resistance Mutations

AbstractMultidrug-resistant clinical isolates are common in certain pathogens, but rare in others. This pattern may be due to the fact that mutations shaping resistance have species-specific effects. To investigate this...

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Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer

Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer Source link

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BRCA Mutations, Prophylactic Surgery, and Bone Loss

(MedPage Today) -- Researchers support use of hormone therapy for high-risk women Source link

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PCNT point mutations and familial intracranial aneurysms

PCNT point mutations and familial intracranial aneurysms Source link

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Inherited BRCA2 mutations linked to increased risk of childhood lymphoma

A report from St. Jude Children's Research Hospital links inherited mutations in the BRCA2 gene with an increased risk of developing non-Hodgkin lymphoma in children and adolescents. The work appears...

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Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis

Timberlake, AT; Jin, SC; Nelson-Williams, C; Wu, R; Furey, CG; Islam, B; Haider, S; ... Lifton, RP; + view all Timberlake, AT; Jin, SC; Nelson-Williams, C; Wu, R; Furey, CG;...

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Enhanced antitumor effect of binimetinib in combination with capecitabine for biliary tract cancer patients with mutations in the RAS/RAF/MEK/ERK pathway: phase Ib study

Enhanced antitumor effect of binimetinib in combination with capecitabine for biliary tract cancer patients with mutations in the RAS/RAF/MEK/ERK pathway: phase Ib study Source link

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GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum. Am J Med Genet A. 2019 Jul 12;: Authors: Škorić-Milosavljević D, Tjong...

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Researchers identify gene mutations linked to leukemia in children with Down's syndrome

Researchers at the University of Oxford, in collaboration with colleagues from Hannover Medical School and Martin-Luther-University Halle-Wittenberg, have discovered the specific gene mutations that are required for the development of...

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Phenotypic and mutational spectrum of thirty-five patients with Sjögren–Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects

Phenotypic and mutational spectrum of thirty-five patients with Sjögren–Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects Source link

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Analysis of Longevity Enhancing Loss of Function Mutations in the E(z) Gene

This open access paper is a good example of the sort of work that follows identification of a longevity-enhancing mutation in a laboratory species, flies in this case. Finding such...

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Triplet-targeted therapy improves survival for patients with advanced colorectal cancer and BRAF mutations

The three-drug combination of encorafenib, binimetinib and cetuximab significantly improved overall survival (OS) in patients with BRAF-mutated metastatic colorectal cancer (mCRC), according to results of the BEACON CRC Phase III...

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Triplet-targeted therapy improves survival for patients with advanced colorectal cancer and BRAF mutations

Phase III trial may change standard of care for up to 15% of colorectal cancer patients Credit: MD Anderson Cancer Center BARCELONA — The three-drug combination of encorafenib, binimetinib and...

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Inferring the distribution of fitness effects of spontaneous mutations in <i>Chlamydomonas reinhardtii</i>

by Katharina B. Böndel, Susanne A. Kraemer, Toby Samuels, Deirdre McClean, Josianne Lachapelle, Rob W. Ness, Nick Colegrave, Peter D. Keightley Spontaneous mutations are the source of new genetic variation...

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The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder

Benger, M; Mankad, K; Proukakis, C; Mazarakis, ND; Kinali, M; (2019) The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement...

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