Results 211 to 220 of about 10,250,216 (364)

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

Integrating clinical genetics in cardiology: Current practices and recommendations for education. [PDF]

Genet Med, 2022
Scherr CL, Kalke K, Ramesh S, Fakhari H, Dellefave-Castillo LM, Smith ME, Kalny C, McNally EM, Rasmussen-Torvik LJ.   +8 more
europepmc   +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

Leveraging PCORnet® to Advance Clinical Genetics and the Genomic Learning Health System. [PDF]

Med Care
Rothman RL, Peterson J, Kripalani S, Barrett JB, Bastarache L, Lenert L, Taylor B, Carnahan R, Waitman LR.   +8 more
europepmc   +1 more source

Meeting abstracts from the Annual Conference "Clinical Genetics of Cancer 2022". [PDF]

Hered Cancer Clin Pract, 2023
europepmc   +1 more source

Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study. [PDF]

BMC Med Genomics, 2022
Veatch OJ, Steinle J, Hossain WA, Butler MG.   +3 more
europepmc   +1 more source

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2021
C. Rehder, Lora J. H. Bean, D. Bick, E. Chao, W. Chung, Soma Das, Julianne M. O’Daniel, H. Rehm, V. Shashi, L. Vincent   +9 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

From tradition to transformation: evolving models of care in clinical genetics. [PDF]

Curr Opin Pediatr
Curd H, Gorrie A, Fennell AP.
europepmc   +1 more source

Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population. [PDF]

Biomedicines, 2022
Martínez-Barrios E, Cesar S, Cruzalegui J, Hernandez C, Arbelo E, Fiol V, Brugada J, Brugada R, Campuzano O, Sarquella-Brugada G.   +9 more
europepmc   +1 more source