Mosaic 13q14 deletions in peripheral leukocytes of non-hematologic cancer cases and healthy controls

Journal of Human Genetics
Mitchell J MachielaStephen J Chanock

Abstract

Loss of 13q14.3 is a chromosomal event found in ~50% of B-cell chronic lymphocytic leukemia (CLL) and monoclonal B-cell lymphocytosis (MBL) cases. Surveys of somatic alterations in solid tumors have shown sporadic 13q14.3 loss in many different tumor types, but not at high frequency in any specific tumor type. In our recent survey of the single-nucleotide polymorphism (SNP) microarray data from 127 000 cancer-free or solid tumor cases, we observed mosaic 13q14.3 loss as common autosomal somatic large structural events (>2 Mb in size) in blood and buccal-derived DNA. Herein, we examined this region more closely investigating structural mosaic events <2 Mb using SNP microarray data in 46 254 non-hematologic cancer cases and 36 229 controls. We detected 60 individuals with 13q14.3 mosaic loss, 1 mosaic copy neutral uniparental disomy and 13 individuals with homozygosity. Although 13q14.3 loss size was variable, the minimally deleted region (MDR) (chr13: 49 590 000-49 983 100; GRCh36) was comparable to what is classically reported in MBL and CLL. Breakpoint analysis of the estimated boundaries reveals enrichment for genes and open chromatin. The frequency of 13q14.3 loss significantly increases with increasing age (P-value=0.028), ...Continue Reading

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Citations

Dec 17, 2016·Nature Communications·Zhikun ZhaoMichael Dean
Oct 4, 2017·Human Molecular Genetics·Mitchell J MachielaStephen J Chanock
Dec 27, 2018·Current Opinion in Oncology·Mitchell J Machiela
Apr 25, 2018·British Journal of Haematology·Weiyin ZhouNeil E Caporaso

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Methods Mentioned

BETA
FAIRE-Seq

Software Mentioned

R Foundation for Statistical Computing
ENCODE
UCSC browser
R

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