Detection of copy number alterations in acute myeloid leukemia and myelodysplastic syndromes
MA Jacoby, MJ Walter - Expert review of molecular diagnostics, 2012 - Taylor & Francis
Chromosomal deletions and amplifications that occur in affected cells from patients with
myelodysplastic syndromes and acute myeloid leukemia often contain genes that contribute …
myelodysplastic syndromes and acute myeloid leukemia often contain genes that contribute …
Microarray-based comparative genomic hybridization of cancer targets reveals novel, recurrent genetic aberrations in the myelodysplastic syndromes
KA Kolquist, RA Schultz, A Furrow, TC Brown, JY Han… - Cancer Genetics, 2011 - Elsevier
The myelodysplastic syndromes (MDS) are a heterogeneous group of clonal disorders
characterized by ineffective hematopoiesis, cytopenias, and a risk of transformation to acute …
characterized by ineffective hematopoiesis, cytopenias, and a risk of transformation to acute …
Mosaicism in health and disease—clones picking up speed
Post-zygotic variation refers to genetic changes that arise in the soma of an individual and
that are not usually inherited by the next generation. Although there is a paucity of research …
that are not usually inherited by the next generation. Although there is a paucity of research …
MosaicBase: a knowledgebase of postzygotic mosaic variants in noncancer disease-related and healthy human individuals
Mosaic variants resulting from postzygotic mutations are prevalent in the human genome
and play important roles in human diseases. However, except for cancer-related variants …
and play important roles in human diseases. However, except for cancer-related variants …
Copy number alterations at polymorphic loci may be acquired somatically in patients with myelodysplastic syndromes
DT Starczynowski, S Vercauteren, S Sung… - Leukemia research, 2011 - Elsevier
Loss of genomic integrity is thought to be one of the underlying causes of myelodysplastic
syndromes (MDS). However, it is unclear whether changes in copy number at loci that are …
syndromes (MDS). However, it is unclear whether changes in copy number at loci that are …
[HTML][HTML] Genetic mosaicism as a cause of inborn errors of immunity
Inborn errors of immunity (IEIs) are a heterogeneous group of disorders due to genetic
defects in the immune response that have a broad clinical spectrum. Diagnosis of the …
defects in the immune response that have a broad clinical spectrum. Diagnosis of the …
Detectable clonal mosaicism and its relationship to aging and cancer
In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-
wide association studies, we observed large chromosomal abnormalities in a subset of …
wide association studies, we observed large chromosomal abnormalities in a subset of …
[HTML][HTML] Low-pass genome sequencing–based detection of absence of heterozygosity: validation in clinical cytogenetics
Purpose Absence of heterozygosity (AOH) is a genetic characteristic known to cause human
genetic disorders through autosomal recessive or imprinting mechanisms. However, the …
genetic disorders through autosomal recessive or imprinting mechanisms. However, the …
Are chromosome aberrations in circulating lymphocytes predictive of future cancer onset in humans? Preliminary results of an Italian cohort study
S Bonassi, A Abbondandolo, L Camurri… - Cancer genetics and …, 1995 - Elsevier
To investigate the existence of an association between the frequency of chromosome
aberrations (CA) in non-target tissues and cancer risk, a historical cohort study was carried …
aberrations (CA) in non-target tissues and cancer risk, a historical cohort study was carried …
Distinction of lymphoid and myeloid clonal hematopoiesis
Clonal hematopoiesis (CH) results from somatic genomic alterations that drive clonal
expansion of blood cells. Somatic gene mutations associated with hematologic …
expansion of blood cells. Somatic gene mutations associated with hematologic …