Germline copy number variations and cancer predisposition

Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma-prone family

(2012) Xiaohong R. Yang et al.   Pigment Cell & Melanoma Research

Pitfalls in the use of DGV for CNV interpretation

(2011) Aude Duclos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De Novo Rates and Selection of Schizophrenia-Associated Copy Number Variants

(2011) Elliott Rees et al.   BIOLOGICAL PSYCHIATRY

Genome-wide copy-number variation analysis identifies common genetic variants at 20p13 associated with aggressiveness of prostate cancer

(2011) Guangfu Jin et al.   CARCINOGENESIS

Nontruncated amino-terminal parathyroid hormone overproduction in two patients with parathyroid carcinoma: a possible link to HRPT2 gene inactivation

(2011) Philippe Caron et al.   CLINICAL ENDOCRINOLOGY

The causality of de novo copy number variants is overestimated

(2011) Joris R Vermeesch et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics

(2011) S Le Scouarnec et al.   HEREDITY

A gender-specific association of CNV at 6p21.3 with NPC susceptibility

(2011) K.-P. Tse et al.   HUMAN MOLECULAR GENETICS

Implications of gene copy-number variation in health and diseases

(2011) Suhani H Almal et al.   JOURNAL OF HUMAN GENETICS

Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

(2011) G. Pichert et al.   JOURNAL OF MEDICAL GENETICS

Copy number polymorphisms and anticancer pharmacogenomics

(2011) Eric R Gamazon et al.   GENOME BIOLOGY

A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes

(2010) Adam Shlien et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Glutathione-S-transferase genotypes influence the risk of chemotherapy-related toxicities and prognosis in Korean patients with diffuse large B-cell lymphoma

(2010) Hyun-Jung Cho et al.   CANCER GENETICS AND CYTOGENETICS

Germline copy number variation and cancer risk

(2010) Roland P Kuiper et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum

(2010) K. M. Walsh et al.   ENDOCRINE-RELATED CANCER

Germline copy number variations in BRCA1-associated ovarian cancer patients

(2010) Kosuke Yoshihara et al.   GENES CHROMOSOMES & CANCER

De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma

(2010) Robert J. Clifford et al.   HEPATOLOGY

Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients

(2010) Ramprasath Venkatachalam et al.   INTERNATIONAL JOURNAL OF CANCER

General lessons from large-scale studies to identify human cancer predisposition genes.J Pathol2010; 220: 255-262

(2010) Jean-Baptiste Cazier et al.   JOURNAL OF PATHOLOGY

Copy number variation in glutathione-S-transferase T1 and M1 predicts incidence and 5-year survival from prostate and bladder cancer and incidence of corpus uteri cancer in the general population

(2010) M S Nørskov et al.   PHARMACOGENOMICS JOURNAL

High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder

(2009) C. Preudhomme et al.   BLOOD

Association of a Germ-Line Copy Number Variation at 2p24.3 and Risk for Aggressive Prostate Cancer

(2009) W. Liu et al.   CANCER RESEARCH

Copy number variations and cancer susceptibility

(2009) Adam Shlien et al.   CURRENT OPINION IN ONCOLOGY

Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients

(2009) Jean-Pierre Bayley et al.   ENDOCRINE-RELATED CANCER

Germline CDH1 deletions in hereditary diffuse gastric cancer families

(2009) C. Oliveira et al.   HUMAN MOLECULAR GENETICS

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

(2009) J Knijnenburg et al.   JOURNAL OF MEDICAL GENETICS

Copy number variation at 1q21.1 associated with neuroblastoma

(2009) Sharon J. Diskin et al.   NATURE

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Linkage Disequilibrium between Two High-Frequency Deletion Polymorphisms: Implications for Association Studies Involving the glutathione-S transferase (GST) Genes

(2009) Yongzhong Zhao et al.   PLoS Genetics

The Fine-Scale and Complex Architecture of Human Copy-Number Variation

(2008) George H. Perry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma

(2008) F Lesueur et al.   BRITISH JOURNAL OF CANCER

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer

(2008) Taru Ahvenainen et al.   CANCER GENETICS AND CYTOGENETICS

Large Deletions of the PRKAR1A Gene in Carney Complex

(2008) A. Horvath et al.   CLINICAL CANCER RESEARCH

Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis

(2008) W. A. van Hattem et al.   GUT

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1

(2008) Marjolijn J L Ligtenberg et al.   NATURE GENETICS

Small-scale copy number variation and large-scale changes in gene expression

(2008) Y. Mileyko et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome

(2008) A. Shlien et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA