Results 41 to 50 of about 837,511 (259)

Landscape of germline cancer predisposition mutations testing and management in pediatrics: Implications for research and clinical care

Frontiers in Pediatrics, 2022
As germline genetic testing capacities have improved over the last two decades, increasingly more people are newly diagnosed with germline cancer susceptibility mutations.
Shilpa A. Shahani, Erin L. Marcotte, Erin L. Marcotte   +2 more
doaj   +1 more source

Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia

, 2008
PURPOSE: The transcription factor CCAAT/enhancer binding protein-alpha (CEBPA) is crucial for normal myeloid differentiation. Mutations in the CEBPA gene are found in subsets of patients with acute myeloid leukemia (AML).
Schardt, Julian, Pabst, Thomas, Haefliger, Simon, Mueller, Beatrice U, Eyholzer, Marianne, Eyholzer M, Schardt J, Pabst, Thomas Niklaus, Mueller BU, Müller, Beatrice Ursula, Pabst T, Haefliger S, Mueller, Beatrice U.   +12 more
core   +1 more source

Patterns of germline and somatic mutations in 16 genes associated with mismatch repair function or containing tandem repeat sequences

Cancer Medicine, 2020
Background We assumed that targeted next‐generation sequencing (NGS) of mismatch repair‐associated genes could improve the detection of driving mutations in colorectal cancers (CRC) with microsatellite instability (MSI) and microsatellite alterations at ...
Shih‐Ching Chang, Yuan‐Tzu Lan, Pei‐Ching Lin, Shung‐Haur Yang, Chien‐Hsing Lin, Wen‐Yi Liang, Wei‐Shone Chen, Jeng‐Kai Jiang, Jen‐Kou Lin   +8 more
doaj   +1 more source

A Limited and Diverse Set of Suppressor Mutations Restore Function to INX-8 Mutant Hemichannels in the Caenorhabditis elegans Somatic Gonad

Biomolecules, 2020
In Caenorhabditis elegans, gap junctions couple cells of the somatic gonad with the germline to support germ cell proliferation and gametogenesis. A strong loss-of-function mutation (T239I) affects the second extracellular loop (EL2) of the somatic INX-8
Todd Starich, David Greenstein
doaj   +1 more source

Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma

Frontiers in Endocrinology, 2023
IntroductionThe percentage of patients diagnosed with pheochromocytoma and paraganglioma (altogether PPGL) carrying known germline mutations in one of the over fifteen susceptibility genes identified to date has dramatically increased during the last two
Sara Mellid, Eduardo Gil, Rocío Letón, Eduardo Caleiras, Emiliano Honrado, Susan Richter, Nuria Palacios, Marcos Lahera, Juan C. Galofré, Adriá López-Fernández, Maria Calatayud, Aura D. Herrera-Martínez, María A. Galvez, Xavier Matias-Guiu, Milagros Balbín, Esther Korpershoek, Eugénie S. Lim, Francesca Maletta, Sofia Lider, Stephanie M. J. Fliedner, Nicole Bechmann, Graeme Eisenhofer, Graeme Eisenhofer, Letizia Canu, Elena Rapizzi, Irina Bancos, Mercedes Robledo, Mercedes Robledo, Alberto Cascón, Alberto Cascón   +29 more
doaj   +1 more source

Lorlatinib‐Containing Therapy for MYCN‐Amplified, ALK‐Mutated Neuroblastoma With Bulky Leptomeningeal Relapse: A Case Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Central nervous system (CNS) relapse of neuroblastoma carries a poor prognosis, and craniospinal irradiation (CSI) poses substantial long‐term toxicity in young children. We report a toddler with MYCN‐amplified neuroblastoma harboring somatic ALK R1275Q who developed extensive leptomeningeal relapse with paraplegia.
Jinwoo Kim, Minji Kim, Nani Jung, Sung Eun Kim, Ji Yoon Kim, Mi Ae Chu, Jung Eun Kwon, Yeo Hyang Kim, So Mi Lee, Ki‐Su Park, Jeong Eun Lee, Ye Jee Shim   +11 more
wiley   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Extreme differences between human germline and tumor mutation densities are driven by ancestral human-specific deviations

Nature Communications, 2020
Somatic and germline mutations are found at different densities across the genome. Here, the authors compare human somatic tumour mutations with the germline of humans, chimpanzees, and gorillas, and find that the mutation density of tumours correlates ...
José María Heredia-Genestar, Tomàs Marquès-Bonet, David Juan, Arcadi Navarro   +3 more
doaj   +1 more source

Germline mutations identified in patients with AML and MPN.

, 2019
Germline mutations identified in patients with AML and MPN.
Jong Rak Choi (586230), Soo-Jeong Kim (313402), Yoo Hong Min (519765), Jieun Jang (5245817), June-Won Cheong (519759), Borahm Kim (6429224), Hyeonah Lee (6429227), Seung-Tae Lee (834820), Chuhl Joo Lyu (2609773)   +8 more
core   +1 more source

Microbiome−host proteostasis crosstalk—An emerging perspective on mechanisms and interventions toward healthy longevity

FEBS Letters, EarlyView.
Proteostasis and the gut microbiota play a key role in shaping host physiology. Microbiota‐derived metabolites, vitamins, and RNA modulate host proteostasis. Findings from model systems, including C. elegans, indicate microbes can either stabilize or disrupt host proteostasis.
Abhishek Anil Dubey, Maria Ermolaeva
wiley   +1 more source