Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

Realizing the promise of cancer predisposition genes

(2014) Nazneen Rahman   NATURE

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

(2014) Leora Witkowski et al.   NATURE GENETICS

Identification of Novel Variants in Colorectal Cancer Families by High-Throughput Exome Sequencing

(2013) M. S. DeRycke et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Prevalence of Germline PTEN, BMPR1A, SMAD4, STK11, and ENG Mutations in Patients With Moderate-Load Colorectal Polyps

(2013) Joanne Ngeow et al.   GASTROENTEROLOGY

Germline Mutations in Oncogene-Induced Senescence Pathways Are Associated With Multiple Sessile Serrated Adenomas

(2013) Manish K. Gala et al.   GASTROENTEROLOGY

Exome Resequencing Identifies Potential Tumor-Suppressor Genes that Predispose to Colorectal Cancer

(2013) Christopher G. Smith et al.   HUMAN MUTATION

Eleven Candidate Susceptibility Genes for Common Familial Colorectal Cancer

(2013) Alexandra E. Gylfe et al.   PLoS Genetics

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

(2012) Claire Palles et al.   NATURE GENETICS

The GEM mapper: fast, accurate and versatile alignment by filtration

(2012) Santiago Marco-Sola et al.   NATURE METHODS

Colorectal Cancer Linkage on Chromosomes 4q21, 8q13, 12q24, and 15q22

(2012) Mine S. Cicek et al.   PLoS One

Systematic Review and Meta-Analysis of the Relationship between EPHX1 Polymorphisms and Colorectal Cancer Risk

(2012) Fei Liu et al.   PLoS One

Cancer predisposing BARD1 mutations in breast–ovarian cancer families

(2011) Magdalena Ratajska et al.   BREAST CANCER RESEARCH AND TREATMENT

BARD1 Expression Predicts Outcome in Colon Cancer

(2011) Judith C. Sporn et al.   CLINICAL CANCER RESEARCH

Evidence of linkage to chromosomes 10p15.3–p15.1, 14q24.3–q31.1 and 9q33.3–q34.3 in non-syndromic colorectal cancer families

(2011) Ian W Saunders et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

BMPR1A Mutations in Hereditary Nonpolyposis Colorectal Cancer Without Mismatch Repair Deficiency

(2011) Taina T. Nieminen et al.   GASTROENTEROLOGY

Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome

(2010) Reinhard Schneppenheim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Germline Epigenetic Silencing of the Tumor Suppressor Gene PTPRJ in Early-Onset Familial Colorectal Cancer

(2010) Ramprasath Venkatachalam et al.   GASTROENTEROLOGY

Hereditary and Familial Colon Cancer

(2010) Kory W. Jasperson et al.   GASTROENTEROLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Evaluation of germline BMP4 mutation as a cause of colorectal cancer

(2010) Steven J. Lubbe et al.   HUMAN MUTATION

Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008

(2010) Jacques Ferlay et al.   INTERNATIONAL JOURNAL OF CANCER

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

The function of p27KIP1during tumor development

(2009) Jinhwa Lee et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

Concepts in Familial Colorectal Cancer: Where Do We Stand and What Is the Future?

(2009) Antoni Castells et al.   GASTROENTEROLOGY

BFAST: An Alignment Tool for Large Scale Genome Resequencing

(2009) Nils Homer et al.   PLoS One

Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers

(2009) K. Guda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Germline EPHB2 Receptor Variants in Familial Colorectal Cancer

(2008) George Zogopoulos et al.   PLoS One