Results 141 to 150 of about 106,718 (217)

Utilization of whole exome sequencing to identify hereditary mutations in Palestinian families with hereditary cancers. [PDF]

Front Genet
Qutob N, Hindiyeh M, Zahdeh F, Alian A, Thawabteh R, Sallam H, Natsheh A.   +6 more
europepmc   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source

Genomic Insights Into Sepsis Course Using Whole Exome Sequencing

EBioMedicine, 2016
Carlos Flores, Beatriz Guillen-Guio
doaj   +1 more source

Whole-exome sequencing identifies matrisomal gene associations in monogenic cerebral small vessel disease. [PDF]

J Neurol
Guyler SK, Alfayyadh MM, Maksemous N, Lea RA, Smith RA, Sutherland HG, Griffiths LR.   +6 more
europepmc   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Whole-exome sequencing identifies PRSS56 variants in Chinese patients with microphthalmia. [PDF]

BMC Med Genomics
Luo J, Li K, Yang R, Tang M, Ge J.
europepmc   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Corrigendum to Whole-exome sequencing association study reveals genetic effects on tumor microenvironment components in nasopharyngeal carcinoma. [PDF]

J Clin Invest
Zeng Y, Luo CL, Lin GW, Li F, Bai X, Ko JM, Xiong L, Liu Y, He S, Jiang JX, Yan WX, Ong EHW, Li Z, Zhou YQ, Zhou YH, Xu AY, Liu SQ, Guo YM, Chen JR, Cheng XX, Cao YL, Yu X, Wu B, Wei PP, Ruan ZH, Chen QY, Tang LQ, McKay JD, Jia WH, Mai HQ, Lim ST, Liu JJ, Lin DX, Khor CC, Chua MLK, Ji M, Lung ML, Zeng YX, Bei JX.   +38 more
europepmc   +1 more source

Germline Cancer Predisposition and De Novo Contributions in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group

International Journal of Cancer, EarlyView.
ABSTRACT Approximately 6%–8% of children and adolescents with rhabdomyosarcoma (RMS) have an underlying cancer predisposition disorder (CPD), which varies between embryonal and alveolar subtypes and other clinical characteristics. Identifying a CPD remains challenging, as traditional approaches rely on clinical features and family history. Additionally,
Taylor M. Luckie, Sarah Scollon, Yao Yu, Aniko Sabo, Tiffany Chambers, Olga Taylor, Logan G. Spector, Michael E. Scheurer, Douglas S. Hawkins, Rajkumar Venkatramani, Chad D. Huff, Sharon E. Plon, Philip J. Lupo   +12 more
wiley   +1 more source

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum. [PDF]

Ophthalmol Sci
Jaju S, Sivagnanam J, Menon P, Nandini G R E, Shanmugam P, Jose A, Morris R, Ramasamy K, Venkatapathy N, Pandian J, Narendran S.   +10 more
europepmc   +1 more source