Results 151 to 160 of about 13,071 (247)

Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations. [PDF]

Hum Genomics
Colin-Leitzinger C, Tang YH, Teng M, Gillis N.   +3 more
europepmc   +1 more source

Somatic mosaicism in inherited bone marrow failure syndromes. [PDF]

Best Pract Res Clin Haematol, 2021
Gutierrez-Rodrigues F, Sahoo SS, Wlodarski MW, Young NS.   +3 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

Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia. [PDF]

Int J Mol Sci
Alcántara-Ortigoza MA, Vela-Amieva M, González-Del Angel A, Reyna-Fabián ME, Fernández-Hernández L, Estandía-Ortega B, Guillén-López S, López-Mejía L, Ibarra-González I, Ruiz-Reyes ML, Calzada-de León R, Rojas-Maruri M, Zárate-Mondragón F, Hun-Seo G, Lee H, Fernández-Lainez C, Rare Diseases Mexican Effort Group (RaDiMEG).   +16 more
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

A review of APC somatic mosaicism and specific APC variants - I1307K and promotor variants. [PDF]

Fam Cancer
Shur S, Sommer AK, Latchford A, Spier I, Katz LH.   +4 more
europepmc   +1 more source

DNA Methylation and Transcriptomic Profiles of Wilms Tumour Reveal New Deregulated Genes and Epigenetic Processes Relevant for Tumour Stratification and Management

International Journal of Cancer, EarlyView.
ABSTRACT Wilms Tumour (WT), the most common kidney cancer in children, presents features of altered kidney development and frequently exhibits molecular alterations at the 11p15.5 imprinted locus, affecting the IGF2 and H19 genes, which contribute to tumour growth and predisposition.
Abu Saadat, Francesco Cecere, Federica Rossetti, Laura Pignata, Emilia D'Angelo, Carlo Giaccari, Gaetano Verde, Paola Quarello, Franca Fagioli, Josep Roma, Manel Esteller, Enrique de Álava, Flavia Cerrato, Andrea Riccio, Angela Sparago   +14 more
wiley   +1 more source

Parental Somatic Mosaicism Detected During Prenatal Diagnosis. [PDF]

Prenat Diagn
Chandler NJ, Scotchman E, McKay F, Ramachandran V, Chitty LS.   +4 more
europepmc   +1 more source

Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation. [PDF]

Front Genet, 2022
Grossi A, Morelli F, Di Duca M, Caroli F, Moroni I, Tonduti D, Bachetti T, Ceccherini I.   +7 more
europepmc   +1 more source

An Unexpected Case of Somatic Mosaicism of the Dutch p16-<i>Leiden</i> Founder Variant in the <i>CDKN2A</i> Gene. [PDF]

Case Rep Genet
van der Meulen M, van Wezel JT, Terlouw D, Morreau J, Steeghs EMP, van Doorn R, van Leerdam ME, Onnekink AM, de Ruiter MC, van der Stoep N, Potjer TP.   +10 more
europepmc   +1 more source