Results 181 to 190 of about 5,647,381 (313)

Feasibility of a ctDNA multigenic panel for non‐small‐cell lung cancer early detection and disease surveillance

Molecular Oncology, EarlyView.
Plasma‐based detection of actionable mutations is a promising approach in lung cancer management. Analysis of ctDNA with a multigene NGS panel identified TP53, KRAS, and EGFR as the most frequently altered, with TP53 and KRAS in treatment‐naïve patients and TP53 and EGFR in previously treated patients.
Giovanna Maria Stanfoca Casagrande, Marcela de Oliveira Silva, Mariana Bisarro dos Reis, Rodrigo de Oliveira Cavagna, Luciane Sussuchi, Icaro Alves Pinto, Natalia Zampieri Pontes, Rodrigo Sampaio Chiarantano, Flavio Augusto Ferreira da Silva, Pedro de Marchi, Letícia Ferro Leal, Rui M. Reis   +11 more
wiley   +1 more source

Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy. [PDF]

Mol Psychiatry
Lemke JR, Eoli A, Krey I, Popp B, Strehlow V, Wittekind DA, Vuorinen AL, Aldhalaan HM, Baer S, de Saint Martin A, Hammer TB, Herman I, Hornemann F, Ingebrigtsen T, Lederer D, Lesca G, Marafie D, Mathot M, Rosenfeld JA, Møller RS, Schelhaas HJ, Stillman C, Orsini A, Patel AD, Piard J, Veggiotti P, Vlaskamp DRM, Weckhuysen S, Traynelis SF, Benke TA, Heyne HO, Syrbe S.   +31 more
europepmc   +1 more source

Aggressive prostate cancer is associated with pericyte dysfunction

Molecular Oncology, EarlyView.
Tumor‐produced TGF‐β drives pericyte dysfunction in prostate cancer. This dysfunction is characterized by downregulation of some canonical pericyte markers (i.e., DES, CSPG4, and ACTA2) while maintaining the expression of others (i.e., PDGFRB, NOTCH3, and RGS5).
Anabel Martinez‐Romero, Ane Martinez‐Larrinaga, Joaquim Grego‐Bessa, Saioa Garcia‐Longarte, Hielke van Splunder, Ianire Astobiza, Amaia Ercilla, Laura Bozal‐Basterra, Isabel Mendizabal, Pilar Villacampa, Arkaitz Carracedo, Mariona Graupera   +11 more
wiley   +1 more source

Preparedness for working with genomic medicine among Swedish non-genetics physicians - a nation-wide survey study. [PDF]

J Community Genet
Björk J, Friedman M, Nisselle A, Malmgren CI, Soller MJ.   +4 more
europepmc   +1 more source

ADDENDUM: Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors

Genetics in Medicine, 2019
J. Goldman, S. Hahn, J. W. Catania, S. Larusse-Eckert, M. Butson, Malia C. Rumbaugh, M. Strecker, J. Roberts, W. Burke, R. Mayeux, T. Bird   +10 more
semanticscholar   +1 more source

Tumor and germline testing with next generation sequencing in epithelial ovarian cancer: a prospective paired comparison using an 18‐gene panel

Molecular Oncology, EarlyView.
Genetic testing in epithelial ovarian cancer includes both germline and tumor‐testing. This approach often duplicates resources. The current prospective study assessed the feasibility of tumor‐first multigene testing by comparing tumor tissue with germline testing of peripheral blood using an 18‐gene NGS panel in 106 patients.
Elisabeth Spenard, Cristina Mitric, Melanie Care, Tracy L. Stockley, Raymond H. Kim, Jeanna McCuaig, Blaise Clarke, Laura Ranich, Clare Sheen, Sarah E. Ferguson, Liat Hogen, Taymaa May, Marcus Q. Bernardini   +12 more
wiley   +1 more source

Arimoclomol and levacetylleucine for the treatment of neurologic manifestations of Niemann-Pick disease type C: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Rodriguez-Gil JL, Smith WE, Chang IJ, Mendelsohn BA, ACMG Therapeutics Committee5∗documents@acmg.net.   +4 more
europepmc   +1 more source

Medical genetics [PDF]

Journal of Medical Genetics, 2005
openaire   +1 more source

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2020
Joshua L. Deignan, C. Astbury, G. Cutting, D. del Gaudio, A. Gregg, W. Grody, K. Monaghan, Sue Richards   +7 more
semanticscholar   +1 more source

Plasma extrachromosomal circular DNA as a biomarker in EGFR‐targeted therapy of non‐small cell lung cancer

Molecular Oncology, EarlyView.
Detection of extrachromosomal circular DNA (eccDNA) in plasma samples from EGFR‐mutated non‐small cell lung cancer patients. Plasma was collected before and during treatment with the EGFR‐tyrosine kinase inhibitor osimertinib. Plasma eccDNA was detected in all cancer samples, and the presence of the EGFR gene on eccDNA serves as a potential biomarker ...
Simone Stensgaard, Sarmad Mehmood, Eva Boysen Fynboe Ebert, Peter Meldgaard, Anindya Dutta, Boe S. Sorensen   +5 more
wiley   +1 more source