A practical guide for mutational signature analysis in hematological malignancies
Nature Communications, 2019 Mutational signature analysis provides important information about the mutational processes underpinning different stages of tumorigenesis. Here, the authors compare publicly available signature extraction tools and suggest a framework for the generation
Francesco Maura +14 more
doaj +1 more source
BMC Genomics, 2022 Background We previously reported a familial thyroid follicular cell carcinoma (FCC) in a large number of Dutch German longhaired pointers and identified two deleterious germline mutations in the TPO gene associated with disease predisposition.
Yun Yu +4 more
doaj +1 more source
Author Correction: A practical guide for mutational signature analysis in hematological malignancies
Nature Communications, 2019 An amendment to this paper has been published and can be accessed via a link at the top of the ...
Francesco Maura +14 more
doaj +1 more source
MutEnricher: a flexible toolset for somatic mutation enrichment analysis of tumor whole genomes
BMC Bioinformatics, 2020 Background Analysis of somatic mutations from tumor whole exomes has fueled discovery of novel cancer driver genes. However, ~ 98% of the genome is non-coding and includes regulatory elements whose normal cellular functions can be disrupted by mutation ...
Anthony R. Soltis +3 more
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Genomic landscape and chronological reconstruction of driver events in multiple myeloma
Nature Communications, 2019 Multiple myeloma evolves continuously. Here the authors chronologically reconstruct driver events in multiple myeloma, noting a limited repertoire of initiating driver events that shape the evolutionary trajectory of the disease.
Francesco Maura +27 more
doaj +1 more source
Comparison of X-ray and gamma-ray dose-response curves for pink somatic mutations in Tradescantia clone 02 [PDF]
, 1976 Microdosimetric data indicate that the mean specific energy,zeta, produced by individual charged particles from X rays and gamma rays is different for the two radiation qualities by nearly a factor of two.
Mills, R. E. +3 more
core +1 more source
Gene expression analyses on skin lesions from patients with familial adenomatous polyposis [PDF]
, 2014 Familial adenomatous polyposis coli (FAP) is an autosomal dominant colorectal cancer predisposition syndrome caused by germline mutations in the APC gene.
Stegmann, Danielle Alexandra
core +1 more source
Effects of Somatic Mutations Are Associated with SNP in the Progression of Individual Acute Myeloid Leukemia Patient: The Two-Hit Theory Explains Inherited Predisposition to Pathogenesis [PDF]
Genomics & Informatics, 2013 This study evaluated the effects of somatic mutations and single nucleotide polymorphisms (SNPs) on disease progression and tried to verify the two-hit theory in cancer pathogenesis.
Soyoung Park, Youngil Koh, Sung-Soo Yoon
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Platelets, 2021 Germline mutations in ETV6 gene cause inherited thrombocytopenia with leukemia predisposition. Here, we report on functional validation of ETV6 W380R mutation segregating with thrombocytopenia in a family where two family members also suffered from acute
Katerina Stano Kozubik +11 more
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