Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X

Hereditary colorectal cancer diagnostics: morphological features of familial colorectal cancer type X versus Lynch syndrome

(2012) Louise Klarskov et al.   JOURNAL OF CLINICAL PATHOLOGY

Genome-wide association analysis identifies three new breast cancer susceptibility loci

(2012) Maya Ghoussaini et al.   NATURE GENETICS

Exome sequencing: Dual role as a discovery and diagnostic tool

(2011) Chee-Seng Ku et al.   ANNALS OF NEUROLOGY

Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers

(2011) R. L. Milne et al.   ANNALS OF ONCOLOGY

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

(2011) Jarupon Fah Sathirapongsasuti et al.   BIOINFORMATICS

Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer

(2011) S. Casadei et al.   CANCER RESEARCH

Strategies for exome and genome sequence data analysis in disease-gene discovery projects

(2011) PN Robinson et al.   CLINICAL GENETICS

Familial colorectal cancer type X syndrome: two distinct molecular entities?

(2011) Inês Francisco et al.   Familial Cancer

Genome-scale analysis of aberrant DNA methylation in colorectal cancer

(2011) T. Hinoue et al.   GENOME RESEARCH

Current status of genome-wide association studies in cancer

(2011) Charles C. Chung et al.   HUMAN GENETICS

Revisiting Mendelian disorders through exome sequencing

(2011) Chee-Seng Ku et al.   HUMAN GENETICS

A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci

(2011) A. Singleton et al.   HUMAN MOLECULAR GENETICS

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

(2011) Antonis C Antoniou et al.   HUMAN MOLECULAR GENETICS

Genetic risk prediction in complex disease

(2011) Luke Jostins et al.   HUMAN MOLECULAR GENETICS

Increased frequency of 20q gain and copy-neutral loss of heterozygosity in mismatch repair proficient familial colorectal carcinomas

(2011) A. Middeldorp et al.   INTERNATIONAL JOURNAL OF CANCER

Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour

(2011) C. P. Kratz et al.   JOURNAL OF MEDICAL GENETICS

Frequency of Deletions of EPCAM (TACSTD1) in MSH2-Associated Lynch Syndrome Cases

(2011) Kandelaria Rumilla et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

(2011) Ignacio Varela et al.   NATURE

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

(2011) Iñaki Comino-Méndez et al.   NATURE GENETICS

Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder

(2011) Yaoting Gui et al.   NATURE GENETICS

Exome sequencing identifies GRIN2A as frequently mutated in melanoma

(2011) Xiaomu Wei et al.   NATURE GENETICS

Inactivating mutations of the chromatin remodeling gene ARID2 in hepatocellular carcinoma

(2011) Meng Li et al.   NATURE GENETICS

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia

(2011) Xiao-Jing Yan et al.   NATURE GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

(2011) T. Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hereditary Colon Cancer Syndromes

(2011) Manish Gala et al.   SEMINARS IN ONCOLOGY

The real cost of sequencing: higher than you think!

(2011) Andrea Sboner et al.   GENOME BIOLOGY

A comparative analysis of exome capture

(2011) Jennifer S Parla et al.   GENOME BIOLOGY

Comparison of solution-based exome capture methods for next generation sequencing

(2011) Anna-Maija Sulonen et al.   GENOME BIOLOGY

Comprehensive comparison of three commercial human whole-exome capture platforms

(2011) Asan et al.   GENOME BIOLOGY

Unlocking Mendelian disease using exome sequencing

(2011) Christian Gilissen et al.   GENOME BIOLOGY

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

(2011) Katherine R Smith et al.   GENOME BIOLOGY

Computational and statistical approaches to analyzing variants identified by exome sequencing

(2011) Nathan O Stitziel et al.   GENOME BIOLOGY

Clinical Cancer Genetics

(2010) Jondavid Pollock et al.   AMERICAN JOURNAL OF CLINICAL ONCOLOGY-CANCER CLINICAL TRIALS

Modifier genes in Mendelian disorders: the example of cystic fibrosis

(2010) Garry R. Cutting   Annals of the New York Academy of Sciences

Microsatellite instability in colorectal cancer

(2010) Barry IACOPETTA et al.   Asia-Pacific Journal of Clinical Oncology

Ability to predict breast cancer in Asian women using a polygenic susceptibility model

(2010) Mikael Hartman et al.   BREAST CANCER RESEARCH AND TREATMENT

DNA methylation predicts recurrence from resected stage III proximal colon cancer

(2010) Joong Bae Ahn et al.   CANCER

Low-Penetrance Susceptibility Variants in Familial Colorectal Cancer

(2010) I. Niittymaki et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Somatic Hypermethylation of MSH2 Is a Frequent Event in Lynch Syndrome Colorectal Cancers

(2010) T. Nagasaka et al.   CANCER RESEARCH

Epimutations and cancer predisposition: importance and mechanisms

(2010) Luke B Hesson et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Common genetic variants and cancer risk in Mendelian cancer syndromes

(2010) Antonis C Antoniou et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Genome-wide association studies in common cancers—what have we learnt?

(2010) Jajini Susan Varghese 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

Familial chronic lymphocytic leukemia

(2010) Lynn R Goldin et al.   CURRENT OPINION IN HEMATOLOGY

Familial testicular germ cell tumors in adults: 2010 summary of genetic risk factors and clinical phenotype

(2010) Mark H Greene et al.   ENDOCRINE-RELATED CANCER

GWAS: heritability missing in action?

(2010) Angus J Clarke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

PALB2: a novel inactivating mutation in a Italian breast cancer family

(2010) Cristina Balia et al.   Familial Cancer

Hereditary and Familial Colon Cancer

(2010) Kory W. Jasperson et al.   GASTROENTEROLOGY

Aberrant DNA Methylation in Hereditary Nonpolyposis Colorectal Cancer Without Mismatch Repair Deficiency

(2010) Ajay Goel et al.   GASTROENTEROLOGY

The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease

(2010) M. O. Woods et al.   GUT

Molecular pathological epidemiology of colorectal neoplasia: an emerging transdisciplinary and interdisciplinary field

(2010) S. Ogino et al.   GUT

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

(2010) J. Rios et al.   HUMAN MOLECULAR GENETICS

Massively parallel sequencing and rare disease

(2010) S. B. Ng et al.   HUMAN MOLECULAR GENETICS

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

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

Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome

(2010) B. A. Talseth-Palmer et al.   JOURNAL OF MEDICAL GENETICS

A Compendium of Genome-Wide Associations for Cancer: Critical Synopsis and Reappraisal

(2010) John P. A. Ioannidis et al.   JNCI-Journal of the National Cancer Institute

Epigenomic diversity of colorectal cancer indicated by LINE-1 methylation in a database of 869 tumors

(2010) Yoshifumi Baba et al.   Molecular Cancer

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

(2010) Richard S Houlston et al.   NATURE GENETICS

Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk

(2010) Dalemari Crowther-Swanepoel et al.   NATURE GENETICS

Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer

(2010) Clare Turnbull et al.   NATURE GENETICS

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

(2010) Yukihide Momozawa et al.   NATURE GENETICS

A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci

(2010) Jin-Xin Bei et al.   NATURE GENETICS

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

(2010) Yingrui Li et al.   NATURE GENETICS

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

(2010) Christopher T Johansen et al.   NATURE GENETICS

Mendelian disorders and multifactorial traits: the big divide or one for all?

(2010) Stylianos E. Antonarakis et al.   NATURE REVIEWS GENETICS

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

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

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

(2010) Tom Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The $1,000 genome, the $100,000 analysis?

(2010) Elaine R Mardis   Genome Medicine

Hereditary gastric cancer

(2009) Carla Oliveira et al.   BEST PRACTICE & RESEARCH IN CLINICAL GASTROENTEROLOGY

Enrichment of Low Penetrance Susceptibility Loci in a Dutch Familial Colorectal Cancer Cohort

(2009) A. Middeldorp et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Three DNA Methylation Epigenotypes in Human Colorectal Cancer

(2009) K. Yagi et al.   CLINICAL CANCER RESEARCH

Common vs. rare allele hypotheses for complex diseases

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

A PALB2 germline mutation associated with hereditary breast cancer in Italy

(2009) Laura Papi et al.   Familial Cancer

Germline hypermethylation ofMLH1andEPCAMdeletions are a frequent cause of Lynch syndrome

(2009) Renée C. Niessen et al.   GENES CHROMOSOMES & CANCER

Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer

(2009) M P Hitchins et al.   JOURNAL OF MEDICAL GENETICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

A genome-wide association study of testicular germ cell tumor

(2009) Elizabeth A Rapley et al.   NATURE GENETICS

Erratum: Common disorders are quantitative traits

(2009) Robert Plomin et al.   NATURE REVIEWS GENETICS

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene

(2009) S. Jones et al.   SCIENCE

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

A genome-wide scan suggests a susceptibility locus on 5p13 for nasopharyngeal carcinoma

(2008) Li-Fu Hu et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Chromosome 8q23.3 and 11q23.1 Variants Modify Colorectal Cancer Risk in Lynch Syndrome

(2008) Juul T. Wijnen et al.   GASTROENTEROLOGY

A Cohort Study of Tumoral LINE-1 Hypomethylation and Prognosis in Colon Cancer

(2008) Shuji Ogino et al.   JNCI-Journal of the National Cancer Institute

CpG island methylator phenotype-low (CIMP-low) colorectal cancer shows not only few methylated CIMP-high-specific CpG islands, but also low-level methylation at individual loci

(2008) Takako Kawasaki et al.   MODERN PATHOLOGY

A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia

(2008) Maria Chiara Di Bernardo et al.   NATURE GENETICS

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS

Molecular Classification and Correlates in Colorectal Cancer

(2007) Shuji Ogino et al.   JOURNAL OF MOLECULAR DIAGNOSTICS