[HTML][HTML] Genomic copy number variants in CML patients with the Philadelphia chromosome (Ph+): an update

H Zhang, M Liu, X Wang, Y Ren, YM Kim… - Frontiers in …, 2021 - frontiersin.org
Background Submicroscopic segmental imbalances detected by array-comparative genomic
hybridization (array-CGH) were discovered to be common in chronic myeloid leukemia …

Chromosomal aberration frequency in lymphocytes predicts the risk of cancer: results from a pooled cohort study of 22 358 subjects in 11 countries

S Bonassi, H Norppa, M Ceppi, U Strömberg… - …, 2008 - academic.oup.com
Mechanistic evidence linking chromosomal aberration (CA) to early stages of cancer has
been recently supported by the results of epidemiological studies that associated CA …

Genomic copy number variation affecting genes involved in the cell cycle pathway: implications for somatic mosaicism

IY Iourov, SG Vorsanova, MA Zelenova… - … Journal of Genomics, 2015 - Wiley Online Library
Somatic genome variations (mosaicism) seem to represent a common mechanism for
human intercellular/interindividual diversity in health and disease. However, origins and …

[HTML][HTML] A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells

M Riaz, J Mattisson, G Polekhina, A Bakshi… - Cell & Bioscience, 2021 - Springer
Background Mosaic loss of Y chromosome (LOY) is the most common somatic change that
occurs in circulating white blood cells of older men. LOY in leukocytes is associated with …

Chromosomal aberrations in lymphocytes predict human cancer independently of exposure to carcinogens

S Bonassi, L Hagmar, U Strömberg, AH Montagud… - Cancer Research, 2000 - AACR
An increased risk of cancer in healthy individuals with high levels of chromosomal
aberrations (CAs) in peripheral blood lymphocytes has been described in recent …

Metabolic gene variants associated with chromosomal aberrations in healthy humans

K Hemminki, C Frank, A Försti, L Musak… - Genes …, 2015 - Wiley Online Library
Nonspecific chromosomal aberrations (CAs) are found in about 1% of lymphocytes drawn
from healthy individuals. They include chromosome‐type aberrations (CSAs), which are …

[PDF][PDF] Large copy-number variants in UK Biobank caused by clonal hematopoiesis may confound penetrance estimates

M Tuke, J Tyrrell, KS Ruth, RN Beaumont… - The American Journal of …, 2020 - cell.com
Large copy-number variants (CNVs) are strongly associated with both developmental delay
and cancer, but the type of disease depends strongly on when and where the mutation …

Somatic mosaicism of sex chromosomes in the blood and brain

EJ Graham, M Vermeulen, B Vardarajan, D Bennett… - Brain research, 2019 - Elsevier
In the blood, mosaic somatic aneuploidy (mSA) of all chromosomes has been found to be
associated with adverse health outcomes, including hematological cancer. Sex …

[HTML][HTML] Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases

J Pham, C Shaw, A Pursley, P Hixson… - European Journal of …, 2014 - nature.com
Somatic chromosomal mosaicism arising from post-zygotic errors is known to cause several
well-defined genetic syndromes as well as contribute to phenotypic variation in diseases …

[HTML][HTML] Ontogenetic and pathogenetic views on somatic chromosomal mosaicism

IY Iourov, SG Vorsanova, YB Yurov, SI Kutsev - Genes, 2019 - mdpi.com
Intercellular karyotypic variability has been a focus of genetic research for more than 50
years. It has been repeatedly shown that chromosome heterogeneity manifesting as …