Genetic predisposition to mosaic Y chromosome loss in blood

DJ Thompson, G Genovese, J Halvardson, JC Ulirsch… - Nature, 2019 - nature.com
Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common
form of clonal mosaicism,,,–, yet our knowledge of the causes and consequences of this is …

Assessing genome-wide copy number aberrations and copy-neutral loss-of-heterozygosity as best practice: an evidence-based review from the Cancer Genomics …

TJ Pugh, JM Fink, X Lu, S Mathew, J Murata-Collins… - Cancer genetics, 2018 - Elsevier
Abstract Background Plasma cell neoplasms (PCNs) encompass a spectrum of disorders
including monoclonal gammopathy of undetermined significance, smoldering myeloma …

Detectable clonal mosaicism from birth to old age and its relationship to cancer

CC Laurie, CA Laurie, K Rice, KF Doheny, LR Zelnick… - Nature …, 2012 - nature.com
We detected clonal mosaicism for large chromosomal anomalies (duplications, deletions
and uniparental disomy) using SNP microarray data from over 50,000 subjects recruited for …

Genetic variation associated with chromosomal aberration frequency: A genome‐wide association study

Y Niazi, H Thomsen, B Smolkova… - Environmental and …, 2019 - Wiley Online Library
Chromosomal aberrations (CAs) in human peripheral blood lymphocytes (PBL) measured
with the conventional cytogenetic assay have been used for human biomonitoring of …

Relationship between spontaneous frequency of aneuploidy and cancer risk in 2145 healthy Hungarian subjects

G Farkas, Z Jurányi, G Székely, ZS Kocsis… - Mutagenesis, 2016 - academic.oup.com
Numerical and structural chromosomal abnormalities are the hallmarks of cancer. Whereas
the structural chromosome aberrations got more substantial attention for cancer risk …

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 …

Somatic genomic mosaicism in multiple myeloma

CJ Ye, J Chen, G Liu, HH Heng - Frontiers in Genetics, 2020 - frontiersin.org
Background Somatic genomic mosaicism occurs when somatic cells of the body display
different genotypes (Table 1), it has recently received increased attention because of its …

[图书][B] Benign and pathological chromosomal imbalances: microscopic and submicroscopic copy number variations (CNVs) in genetics and counseling

T Liehr - 2013 - books.google.com
Benign & Pathological Chromosomal Imbalances systematically clarifies the disease
implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic …

Large-scale analysis of chromosomal aberrations in cancer karyotypes reveals two distinct paths to aneuploidy

M Ozery-Flato, C Linhart, L Trakhtenbrot, S Izraeli… - Genome Biology, 2011 - Springer
Background Chromosomal aneuploidy, that is to say the gain or loss of chromosomes, is the
most common abnormality in cancer. While certain aberrations, most commonly …

Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the …

R Kanagal-Shamanna, JC Hodge, T Tucker, S Shetty… - Cancer genetics, 2018 - Elsevier
Multiple studies have demonstrated the utility of chromosomal microarray (CMA) testing to
identify clinically significant copy number alterations (CNAs) and copy-neutral loss-of …