Results 31 to 40 of about 116,502 (262)
Germline Mutations and Their Clinical Applications in Cancer [PDF]
Breast Cancer Management, 2019 n ...
Jean-Sébastien Milanese +2 more
openaire +2 more sources
Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias
Frontiers in Endocrinology, 2022 Genetic testing has become the standard of care for many disease states. As a result, physicians treating patients who have tumors often rely on germline genetic testing results for making clinical decisions.
Raphaelle D. Vallera +14 more
doaj +1 more source
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 +11 more
wiley +1 more source
Germline Elongator mutations in Sonic Hedgehog medulloblastoma [PDF]
Nature, 2020 Cancer genomics has revealed many genes and core molecular processes that contribute to human malignancies, but the genetic and molecular bases of many rare cancers remains unclear. Genetic predisposition accounts for 5 to 10% of cancer diagnoses in children1,2, and genetic events that cooperate with known somatic driver events are poorly understood ...
Sebastian M. Waszak +62 more
openaire +8 more sources
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
Prevalence of the CHEK2 R95* germline mutation [PDF]
Hereditary Cancer in Clinical Practice, 2016 While germline CHEK2 mutations have been linked to a moderately elevated cancer risk, to date, a limited number of such mutations have been identified. Recently, we reported a germline nonsense mutation (C283T; R95*), introducing an early stop-codon, in two Norwegian patients diagnosed with locally advanced breast cancer.
Knappskog, Stian +6 more
openaire +4 more sources
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
Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease. [PDF]
PLoS ONE, 2012 Polycystic liver disease (PCLD) is an autosomal dominant disorder characterised by multiple fluid filled cysts in the liver. This rare disease is caused by heterozygous germline mutations in PRKCSH and SEC63.
Manoe J Janssen +3 more
doaj +1 more source
Molecular Oncology, EarlyView.Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche +10 more
wiley +1 more source
Frontiers in Genetics, 2020 PALB2 is an important BRCAx candidate for familial breast cancers (FBC). PALB2 pathogenic variants (PVs) may not to conform to “two hit” paradigm. However, a recent study demonstrates that in the majority PALB2 germline mutant breast cancers, the loss of
Zhe-Yu Hu +16 more
doaj +1 more source