Ultra-Rare Mutation in Long-Range Enhancer Predisposes to Thyroid Carcinoma with High Penetrance

Integrative functional genomics identifies an enhancer looping to the SOX9 gene disrupted by the 17q24.3 prostate cancer risk locus

(2012) X. Zhang et al.   GENOME RESEARCH

Regulatory variations in the era of next-generation sequencing: Implications for clinical molecular diagnostics

(2012) Olga Jarinova et al.   HUMAN MUTATION

Discovery of common variants associated with low TSH levels and thyroid cancer risk

(2012) Julius Gudmundsson et al.   NATURE GENETICS

Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression

(2012) Johannes Schödel et al.   NATURE GENETICS

The polymorphism rs944289 predisposes to papillary thyroid carcinoma through a large intergenic noncoding RNA gene of tumor suppressor type

(2012) J. Jendrzejewski et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Epigenomic Enhancer Profiling Defines a Signature of Colon Cancer

(2012) B. Akhtar-Zaidi et al.   SCIENCE

Characterization of the colorectal cancer–associated enhancer MYC-335 at 8q24: the role of rs67491583

(2012) Sari Tuupanen et al.   Cancer Genetics

Family history of cancer and risk of sporadic differentiated thyroid carcinoma

(2011) Li Xu et al.   CANCER

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

Networks of intergenic long-range enhancers and snpRNAs drive castration-resistant phenotype of prostate cancer and contribute to pathogenesis of multiple common human disorders

(2011) Anna B. Glinskii et al.   CELL CYCLE

Familial thyroid cancer: a review

(2011) Vânia Nosé   MODERN PATHOLOGY

Variegated gene expression caused by cell-specific long-range DNA interactions

(2011) Daan Noordermeer et al.   NATURE CELL BIOLOGY

A Functional Variant at a Prostate Cancer Predisposition Locus at 8q24 Is Associated with PVT1 Expression

(2011) Kerstin B. Meyer et al.   PLoS Genetics

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

Rare genetic variants and the risk of cancer

(2010) Walter Bodmer et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Challenges in the identification and use of rare disease-associated predisposition variants

(2010) Luis G Carvajal-Carmona   CURRENT OPINION IN GENETICS & DEVELOPMENT

An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer

(2010) N. F. Wasserman et al.   GENOME RESEARCH

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

Long-range enhancers on 8q24 regulate c-Myc

(2010) J. Sotelo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Increasing incidence of differentiated thyroid cancer in the United States, 1988-2005

(2009) Amy Y. Chen et al.   CANCER

A Susceptibility Locus for Papillary Thyroid Carcinoma on Chromosome 8q24

(2009) H. He et al.   CANCER RESEARCH

Common vs. rare allele hypotheses for complex diseases

(2009) Nicholas J Schork et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations

(2009) Julius Gudmundsson et al.   NATURE GENETICS

The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer

(2009) Mark M Pomerantz et al.   NATURE GENETICS

Distinct loci on chromosome 1q21 and 6q22 predispose to familial nonmedullary thyroid cancer: A SNP array-based linkage analysis of 38 families

(2009) Insoo Suh et al.   SURGERY

Mapping a New Familial Thyroid Epithelial Neoplasia Susceptibility Locus to Chromosome 8p23.1-p22 by High-Density Single-Nucleotide Polymorphism Genome-Wide Linkage Analysis

(2008) Branca M. Cavaco et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS