The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery

Familial Risk and Heritability of Cancer Among Twins in Nordic Countries

(2016) Lorelei A. Mucci et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility

(2016) Richarda M. de Voer et al.   PLoS Genetics

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Driver and Passenger Mutations in Cancer

(2015) Julia R. Pon et al.   Annual Review of Pathology-Mechanisms of Disease

Global cancer statistics, 2012

(2015) Lindsey A. Torre et al.   CA-A CANCER JOURNAL FOR CLINICIANS

Prospective Derivation of a Living Organoid Biobank of Colorectal Cancer Patients

(2015) Marc van de Wetering et al.   CELL

Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair

(2015) Nuria Seguí et al.   GASTROENTEROLOGY

Genetics and Genetic Testing in Hereditary Colorectal Cancer

(2015) Elena M. Stoffel et al.   GASTROENTEROLOGY

A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase

(2015) Yoshitatsu Sei et al.   GASTROENTEROLOGY

Lynch Syndrome Associated with TwoMLH1Promoter Variants and Allelic Imbalance ofMLH1Expression

(2015) Luke B. Hesson et al.   HUMAN MUTATION

Colorectal cancer-susceptibility single-nucleotide polymorphisms in Korean population

(2015) Sung Noh Hong et al.   JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY

Sequential cancer mutations in cultured human intestinal stem cells

(2015) Jarno Drost et al.   NATURE

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

(2015) Jenny C Taylor et al.   NATURE GENETICS

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

(2015) Robbert D A Weren et al.   NATURE GENETICS

A method to predict the impact of regulatory variants from DNA sequence

(2015) Dongwon Lee et al.   NATURE GENETICS

Large-scale whole-genome sequencing of the Icelandic population

(2015) Daniel F Gudbjartsson et al.   NATURE GENETICS

Clinical management of hereditary colorectal cancer syndromes

(2015) Hans F. A. Vasen et al.   Nature Reviews Gastroenterology & Hepatology

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

(2015) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Variation in cancer risk among tissues can be explained by the number of stem cell divisions

(2015) C. Tomasetti et al.   SCIENCE

Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases

(2015) Jun-Xiao Zhang   WORLD JOURNAL OF GASTROENTEROLOGY

Systematic search for rare variants in Finnish early-onset colorectal cancer patients

(2015) Tomas Tanskanen et al.   Cancer Genetics

Associations between polymorphisms in the SYK promoter and susceptibility to sporadic colorectal cancer in a Southern Han Chinese population - a short report

(2015) Hui Peng et al.   CELLULAR ONCOLOGY

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

(2015) Richarda M. de Voer et al.   Scientific Reports

The Power of Gene-Based Rare Variant Methods to Detect Disease-Associated Variation and Test Hypotheses About Complex Disease

(2015) Loukas Moutsianas et al.   PLoS Genetics

Genome Engineering with Targetable Nucleases

(2014) Dana Carroll   Annual Review of Biochemistry

Variant detection sensitivity and biases in whole genome and exome sequencing

(2014) Alison M Meynert et al.   BMC BIOINFORMATICS

A novel colorectal cancer risk locus at 4q32.2 identified from an international genome-wide association study

(2014) Stephanie L. Schmit et al.   CARCINOGENESIS

Approaches to integrating germline and tumor genomic data in cancer research

(2014) Heather Spencer Feigelson et al.   CARCINOGENESIS

Development and Applications of CRISPR-Cas9 for Genome Engineering

(2014) Patrick D. Hsu et al.   CELL

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

(2014) Jean- Benoît Courcet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Germline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency

(2014) Taina T. Nieminen et al.   GASTROENTEROLOGY

Differentiating Lynch-Like From Lynch Syndrome

(2014) John M. Carethers   GASTROENTEROLOGY

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

(2014) Clara Esteban-Jurado et al.   GENETICS IN MEDICINE

Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis

(2014) N. Whiffin et al.   HUMAN MOLECULAR GENETICS

Multiple evidence strands suggest that there may be as few as 19 000 human protein-coding genes

(2014) Iakes Ezkurdia et al.   HUMAN MOLECULAR GENETICS

Estimating the heritability of colorectal cancer

(2014) Shuo Jiao et al.   HUMAN MOLECULAR GENETICS

Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians

(2014) Ben Zhang et al.   INTERNATIONAL JOURNAL OF CANCER

Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers

(2014) Willemina RR Geurts-Giele et al.   JOURNAL OF PATHOLOGY

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

Saturation editing of genomic regions by multiplex homology-directed repair

(2014) Gregory M. Findlay et al.   NATURE

Resolving the complexity of the human genome using single-molecule sequencing

(2014) Mark J. P. Chaisson et al.   NATURE

Realizing the promise of cancer predisposition genes

(2014) Nazneen Rahman   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

(2014) Jianxin Shi et al.   NATURE GENETICS

The contribution of genetic variants to disease depends on the ruler

(2014) John S. Witte et al.   NATURE REVIEWS GENETICS

Only three driver gene mutations are required for the development of lung and colorectal cancers

(2014) Cristian Tomasetti et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Searching for missing heritability: Designing rare variant association studies

(2014) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour

(2014) Sandra Hanks et al.   Nature Communications

The cancer genome: from structure to function

(2014) Ad Geurts van Kessel   CELLULAR ONCOLOGY

Performance of amplicon-based next generation DNA sequencing for diagnostic gene mutation profiling in oncopathology

(2014) Daoud Sie et al.   CELLULAR ONCOLOGY

Genome-Wide Diet-Gene Interaction Analyses for Risk of Colorectal Cancer

(2014) Jane C. Figueiredo et al.   PLoS Genetics

Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia

(2013) Massimo Bogliolo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next-Generation Sequencing Platforms

(2013) Elaine R. Mardis   Annual Review of Analytical Chemistry

A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12

(2013) Ceres Fernandez-Rozadilla et al.   BMC GENOMICS

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

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

The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype

(2013) Chau-To Kwok et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The role of epigenetics in Lynch syndrome

(2013) Megan P. Hitchins   Familial Cancer

Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer

(2013) Richarda M. de Voer et al.   GASTROENTEROLOGY

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

(2013) Manish K. Gala et al.   GASTROENTEROLOGY

Somatic Mutations in MLH1 and MSH2 Are a Frequent Cause of Mismatch-Repair Deficiency in Lynch Syndrome-Like Tumors

(2013) Arjen R. Mensenkamp et al.   GASTROENTEROLOGY

Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence

(2013) Xiangyu Ma et al.   GUT

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

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

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

(2013) Miriam J Smith et al.   NATURE GENETICS

The Cancer Genome Atlas Pan-Cancer analysis project

(2013) John N Weinstein et al.   NATURE GENETICS

Poor-prognosis colon cancer is defined by a molecularly distinct subtype and develops from serrated precursor lesions

(2013) Felipe De Sousa E Melo et al.   NATURE MEDICINE

Sequencing studies in human genetics: design and interpretation

(2013) David B. Goldstein et al.   NATURE REVIEWS GENETICS

Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics

(2013) Ekta Khurana et al.   SCIENCE

Eleven Candidate Susceptibility Genes for Common Familial Colorectal Cancer

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

RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome

(2012) Diana C. Blaydon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42 103 individuals

(2012) Malcolm G Dunlop et al.   GUT

Genome-wide investigation of gene–environment interactions in colorectal cancer

(2012) Sabine Siegert et al.   HUMAN GENETICS

Inherited deleterious variants inGALNT12are associated with CRC susceptibility

(2012) Erica Clarke et al.   HUMAN MUTATION

Systematic Meta-Analyses and Field Synopsis of Genetic Association Studies in Colorectal Cancer

(2012) E. Theodoratou et al.   JNCI-Journal of the National Cancer Institute

Clinicopathologic and molecular features of sporadic early-onset colorectal adenocarcinoma: an adenocarcinoma with frequent signet ring cell differentiation, rectal and sigmoid involvement and adverse morphologic features

(2012) Daniel T Chang et al.   MODERN PATHOLOGY

Recurrent R-spondin fusions in colon cancer

(2012) Somasekar Seshagiri et al.   NATURE

Comprehensive molecular characterization of human colon and rectal cancer

(2012)   NATURE

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

(2012) Elise Ruark et al.   NATURE

DNA sequencing with nanopores

(2012) Grégory F Schneider et al.   NATURE BIOTECHNOLOGY

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

(2012) Malcolm G Dunlop et al.   NATURE GENETICS

Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1

(2012) Emma Jaeger et al.   NATURE GENETICS

Genome-wide association analyses in east Asians identify new susceptibility loci for colorectal cancer

(2012) Wei-Hua Jia et al.   NATURE GENETICS

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

(2012) Claire Palles et al.   NATURE GENETICS

Rare and common variants: twenty arguments

(2012) Greg Gibson   NATURE REVIEWS GENETICS

Genome-Wide Search for Gene-Gene Interactions in Colorectal Cancer

(2012) Shuo Jiao et al.   PLoS One

The mystery of missing heritability: Genetic interactions create phantom heritability

(2012) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants

(2012) A. Keinan et al.   SCIENCE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Molecular Genetics of Colorectal Cancer

(2011) Eric R. Fearon   Annual Review of Pathology-Mechanisms of Disease

Genotype-Environment Interactions in Microsatellite Stable/Microsatellite Instability-Low Colorectal Cancer: Results from a Genome-Wide Association Study

(2011) J. C. Figueiredo et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort†

(2011) MP Hitchins et al.   CLINICAL GENETICS

Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population

(2011) R. Cui et al.   GUT

Meta-analysis of new genome-wide association studies of colorectal cancer risk

(2011) Ulrike Peters et al.   HUMAN GENETICS

Evaluation of next-generation sequencing software in mapping and assembly

(2011) Suying Bao et al.   JOURNAL OF HUMAN GENETICS

A continuum model for tumour suppression

(2011) Alice H. Berger et al.   NATURE

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

(2011) Pia Ostergaard et al.   NATURE GENETICS

Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

(2011) David R Goudie et al.   NATURE GENETICS

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

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

Germline mutations in BAP1 predispose to melanocytic tumors

(2011) Thomas Wiesner et al.   NATURE GENETICS

Insertional mutagenesis identifies multiple networks of cooperating genes driving intestinal tumorigenesis

(2011) H Nikki March et al.   NATURE GENETICS

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

(2011) Gregory M. Cooper et al.   NATURE REVIEWS GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

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

The functional spectrum of low-frequency coding variation

(2011) Gabor T Marth et al.   GENOME BIOLOGY

Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility

(2010) Jesús Lascorz et al.   CARCINOGENESIS

First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes

(2010) Monika Morak et al.   EUROPEAN JOURNAL OF CANCER

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

(2010) Ramprasath Venkatachalam et al.   GASTROENTEROLOGY

A window into third-generation sequencing

(2010) E. E. Schadt et al.   HUMAN MOLECULAR GENETICS

De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one

(2010) Ajay Goel et al.   INTERNATIONAL JOURNAL OF CANCER

Genome-Wide Association Studies of Cancer

(2010) Zsofia K. Stadler et al.   JOURNAL OF CLINICAL ONCOLOGY

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

(2010) Marlies JE Kempers et al.   LANCET ONCOLOGY

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

Microsatellite instability in colorectal cancer—the stable evidence

(2010) Eduardo Vilar et al.   Nature Reviews Clinical Oncology

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Single Lgr5 stem cells build crypt-villus structures in vitro without a mesenchymal niche

(2009) Toshiro Sato et al.   NATURE

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

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

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff 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

A Transposon-Based Genetic Screen in Mice Identifies Genes Altered in Colorectal Cancer

(2009) T. K. Starr et al.   SCIENCE

Colorectal Cancer Epidemiology: Incidence, Mortality, Survival, and Risk Factors

(2009) Fatima Haggar et al.   Clinics in Colon and Rectal Surgery

Report of a family segregating mutations in both the APC and MSH2 genes: juvenile onset of colorectal cancer in a double heterozygote

(2008) N. Uhrhammer et al.   INTERNATIONAL JOURNAL OF COLORECTAL DISEASE

Cowden Syndrome: A Critical Review of the Clinical Literature

(2008) Robert Pilarski   Journal of Genetic Counseling

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer

(2008)   NATURE GENETICS

Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21

(2008) Albert Tenesa et al.   NATURE GENETICS

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

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

(2008) Ian PM Tomlinson et al.   NATURE GENETICS

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS

Apc mice: Models, modifiers and mutants

(2008) Amy E. McCart et al.   PATHOLOGY RESEARCH AND PRACTICE

Germline EPHB2 Receptor Variants in Familial Colorectal Cancer

(2008) George Zogopoulos et al.   PLoS One

Molecular Classification and Correlates in Colorectal Cancer

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