Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

JS Beckmann, X Estivill, SE Antonarakis - Nature Reviews Genetics, 2007 - nature.com
A considerable and unanticipated plasticity of the human genome, manifested as inter-
individual copy number variation, has been discovered. These structural changes constitute …

The origins of medulloblastoma subtypes

RJ Gilbertson, DW Ellison - Annu. Rev. Pathol. Mech. Dis., 2008 - annualreviews.org
Childhood tumors containing cells that are morphologically and functionally similar to
normal progenitor cells provide fertile ground for investigating the links between …

Integrative analysis of genome-wide loss of heterozygosity and monoallelic expression at nucleotide resolution reveals disrupted pathways in triple-negative breast …

G Ha, A Roth, D Lai, A Bashashati, J Ding… - Genome …, 2012 - genome.cshlp.org
Loss of heterozygosity (LOH) and copy number alteration (CNA) feature prominently in the
somatic genomic landscape of tumors. As such, karyotypic aberrations in cancer genomes …

Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays

T Popova, E Manié, D Stoppa-Lyonnet, G Rigaill… - Genome biology, 2009 - Springer
We describe a method for automatic detection of absolute segmental copy numbers and
genotype status in complex cancer genome profiles measured with single-nucleotide …

Chromosomal abnormalities in cancer

S Fröhling, H Döhner - New England Journal of Medicine, 2008 - Mass Medical Soc
This review gives an account of chromosomal aberrations in cancer cells. Such
abnormalities have typically been associated with hematologic cancers, but recent work has …

Molecular analysis of deletions in human chromosome 3p21 and the role of resident cancer genes in disease

D Angeloni - Briefings in functional genomics and proteomics, 2007 - academic.oup.com
Epithelial cancers inflict a heavy human and social burden. It was estimated [Tyczynski JE,
Bray F, Parkin DM. Lung cancer in Europe in 2000: epidemiology, prevention, and early …

[PDF][PDF] Genetic polymorphisms involved in bladder cancer: a global review

HR Kourie, J Zouein, B Succar… - Oncology …, 2023 - frontierspartnerships.org
Bladder cancer (BC) has been associated with genetic susceptibility. Single peptide
polymorphisms (SNPs) can modulate BC susceptibility. A literature search was performed …

Comprehensive analysis of copy number and allele status identifies multiple chromosome defects underlying follicular lymphoma pathogenesis

CW Ross, PD Ouillette, CM Saddler… - Clinical cancer …, 2007 - aacrjournals.org
Purpose: Follicular lymphoma (FL) constitutes the second most common non-Hodgkin's
lymphoma in the Western world. The clinical course is variable and only in part explained by …

Molecular diagnostic testing in malignant gliomas: a practical update on predictive markers

S Yip, AJ Iafrate, DN Louis - Journal of Neuropathology & …, 2008 - academic.oup.com
Advances in understanding the molecular underpinnings of cancer and in molecular
diagnostic technologies have changed the clinical practice of oncologic pathology. The …

Identification of a common microdeletion cluster in 7q21. 3 subband among patients with myeloid leukemia and myelodysplastic syndrome

H Asou, H Matsui, Y Ozaki, A Nagamachi… - Biochemical and …, 2009 - Elsevier
Monosomy 7 and interstitial deletions in the long arm of chromosome 7 (− 7/7q−) is a
common nonrandom chromosomal abnormality found frequently in myeloid disorders …