Advances in colorectal cancer genomics and transcriptomics drive early detection and prevention

Colorectal Cancer incidence in Canada: what do rates at age 50 years reflect?

(2021) Stacey A Fedewa et al.   JNCI-Journal of the National Cancer Institute

Liquid biopsy enters the clinic — implementation issues and future challenges

(2021) Michail Ignatiadis et al.   Nature Reviews Clinical Oncology

Enhancer-derived long non-coding RNAs CCAT1 and CCAT2 at rs6983267 has limited predictability for early stage colorectal carcinoma metastasis

(2021) Lai Fun Thean et al.   Scientific Reports

Microbial Community Heterogeneity Within Colorectal Neoplasia and its Correlation With Colorectal Carcinogenesis

(2021) Weixin Liu et al.   GASTROENTEROLOGY

Sensitivity of fecal immunochemical test for colorectal cancer detection differs according to stage and location

(2020) Tobias Niedermaier et al.   Clinical Gastroenterology and Hepatology

Epigenetics of colorectal cancer: biomarker and therapeutic potential

(2020) Gerhard Jung et al.   Nature Reviews Gastroenterology & Hepatology

Liquid Biopsy-Based Biomarkers of Treatment Response and Resistance

(2020) Elaine Kilgour et al.   CANCER CELL

Biomarkers for Early Detection of Colorectal Cancer:The Early Detection Research Network, a Framework for Clinical Translation

(2020) Robert S. Bresalier et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer

(2020) Laia Bonjoch et al.   GASTROENTEROLOGY

Feasibility of blood testing combined with PET-CT to screen for cancer and guide intervention

(2020) Anne Marie Lennon et al.   SCIENCE

Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk

(2020) Minta Thomas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel mesenchymal‐associated transcriptomic signature for risk‐stratification and therapeutic response prediction in colorectal cancer

(2020) Takatoshi Matsuyama et al.   INTERNATIONAL JOURNAL OF CANCER

Liquid biopsies: Potential and challenges

(2020) Isabel Heidrich et al.   INTERNATIONAL JOURNAL OF CANCER

Clinical relevance of blood-based ctDNA analysis: mutation detection and beyond

(2020) Laura Keller et al.   BRITISH JOURNAL OF CANCER

Translating Cancer Risk Prediction Models into Personalized Cancer Risk Assessment Tools: Stumbling Blocks and Strategies for Success

(2020) Erika A. Waters et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

The orphan nuclear receptor NR0B2 could be a novel susceptibility locus associated with microsatellite‐stable, APC mutation‐negative early‐onset colorectal carcinomas with metabolic manifestation

(2020) Kuen Kuen Lam et al.   GENES CHROMOSOMES & CANCER

Genomic copy number predicts esophageal cancer years before transformation

(2020) Sarah Killcoyne et al.   NATURE MEDICINE

The Liquid Biopsy in the Management of Colorectal Cancer: An Overview

(2020) Marco Vacante et al.   Biomedicines

Cancer and the Microbiome—Influence of the Commensal Microbiota on Cancer, Immune Responses, and Immunotherapy

(2020) Vyara Matson et al.   GASTROENTEROLOGY

The Gut Microbiome: Reaching the Promise Through Discovery— Advancing Knowledge and Discovery of the Gut Microbiome in the Age of Precision Medicine

(2020) Beth A. McCormick et al.   GASTROENTEROLOGY

Epigenetic Alterations in the Gastrointestinal Tract: Current and Emerging Use for Biomarkers of Cancer

(2020) William M. Grady et al.   GASTROENTEROLOGY

Update on genetic predisposition to colorectal cancer and polyposis

(2019) Laura Valle et al.   MOLECULAR ASPECTS OF MEDICINE

Performance Characteristics of Fecal Immunochemical Tests for Colorectal Cancer and Advanced Adenomatous Polyps

(2019) Thomas F. Imperiale et al.   ANNALS OF INTERNAL MEDICINE

Detection of mutations in circulating cell‐free DNA in relation to disease stage in colorectal cancer

(2019) Sandra Liebs et al.   Cancer Medicine

Stool-Based miR-92a and miR-144* as Noninvasive Biomarkers for Colorectal Cancer Screening

(2019) Hyun Ho Choi et al.   ONCOLOGY

Methylated Septin 9 and Carcinoembryonic Antigen for Serological Diagnosis and Monitoring of Patients with Colorectal Cancer After Surgery

(2019) Zhi Yao Ma et al.   Scientific Reports

Liquid biopsy for rectal cancer: A systematic review

(2019) Daniela Massihnia et al.   CANCER TREATMENT REVIEWS

Inaccuracy of the log‐rank approximation in cancer data analysis

(2019) Nimrod Rappoport et al.   Molecular Systems Biology

Proteins in stool as biomarkers for non‐invasive detection of colorectal adenomas with high risk of progression

(2019) Malgorzata A Komor et al.   JOURNAL OF PATHOLOGY

Clonal hematopoiesis in human aging and disease

(2019) Siddhartha Jaiswal et al.   SCIENCE

Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing

(2019) Claudio Toma et al.   Clinical and Translational Gastroenterology

Human colorectal cancer initiation is bidirectional, and cell growth, metabolic genes and transporter genes are early drivers of tumorigenesis

(2018) Yi Hong et al.   CANCER LETTERS

Genome-wide Discovery and Identification of a Novel miRNA Signature for Recurrence Prediction in Stage II and III Colorectal Cancer

(2018) Raju Kandimalla et al.   CLINICAL CANCER RESEARCH

Detection of Mutations in Barrett’s Esophagus Before Progression to High-Grade Dysplasia or Adenocarcinoma

(2018) Matthew D. Stachler et al.   GASTROENTEROLOGY

Somatic mutations precede acute myeloid leukemia years before diagnosis

(2018) Pinkal Desai et al.   NATURE MEDICINE

Prediction of acute myeloid leukaemia risk in healthy individuals

(2018) Sagi Abelson et al.   NATURE

The importance of stool DNA methylation in colorectal cancer diagnosis: A meta-analysis

(2018) Afsaneh Mojtabanezhad Shariatpanahi et al.   PLoS One

Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

(2018) Alisa Olkinuora et al.   GENETICS IN MEDICINE

Discovery of common and rare genetic risk variants for colorectal cancer

(2018) Jeroen R. Huyghe et al.   NATURE GENETICS

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Biomarkers in colorectal cancer: Current clinical utility and future perspectives

(2018) Marco Vacante et al.   World Journal of Clinical Cases

Genome-wide association study identified copy number variants associated with sporadic colorectal cancer risk

(2017) Lai Fun Thean et al.   JOURNAL OF MEDICAL GENETICS

Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients

(2017) Ahmet Zehir et al.   NATURE MEDICINE

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

(2016) Ronja Adam et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis

(2016) Isabel Spier et al.   Familial Cancer

Circulating tumor DNA analysis detects minimal residual disease and predicts recurrence in patients with stage II colon cancer

(2016) Jeanne Tie et al.   Science Translational Medicine

Epigenetic Determinants of Cancer

(2016) Stephen B. Baylin et al.   Cold Spring Harbor Perspectives in Biology

The impact of communicating genetic risks of disease on risk-reducing health behaviour: systematic review with meta-analysis

(2016) Gareth J Hollands et al.   BMJ-British Medical Journal

The impact of communicating genetic risks of disease on risk-reducing health behaviour: systematic review with meta-analysis

(2016) Gareth J Hollands et al.   BMJ-British Medical Journal

Defining the Adenoma Burden in Lynch Syndrome

(2015) Matthew F. Kalady et al.   DISEASES OF THE COLON & RECTUM

Exome Sequencing Reveals Germline SMAD9 Mutation That Reduces Phosphatase and Tensin Homolog Expression and Is Associated With Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas

(2015) Joanne Ngeow et al.   GASTROENTEROLOGY

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

The consensus molecular subtypes of colorectal cancer

(2015) Justin Guinney et al.   NATURE MEDICINE

Somatic mutation in cancer and normal cells

(2015) I. Martincorena et al.   SCIENCE

MLH1constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria

(2014) Francesca Crucianelli et al.   Epigenetics

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

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

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

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

(2014) Laura Valle et al.   HUMAN MOLECULAR GENETICS

Multitarget Stool DNA Testing for Colorectal-Cancer Screening

(2014) Thomas F. Imperiale et al.   NEW ENGLAND JOURNAL OF MEDICINE

Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies

(2014) C. Bettegowda et al.   Science Translational Medicine

A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia

(2013) B Rivera et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis and MYH-associated polyposis)

(2013) Madhuri Hegde et al.   GENETICS IN MEDICINE

Prospective evaluation of methylatedSEPT9in plasma for detection of asymptomatic colorectal cancer

(2013) Timothy Robert Church et al.   GUT

Germline and somatic polymerase ϵ and δ mutations define a new class of hypermutated colorectal and endometrial cancers

(2013) Sarah Briggs et al.   JOURNAL OF PATHOLOGY

Cancer Genome Landscapes

(2013) B. Vogelstein et al.   SCIENCE

ColoGuideEx: a robust gene classifier specific for stage II colorectal cancer prognosis

(2012) Trude H Ågesen et al.   GUT

Comprehensive molecular characterization of human colon and rectal cancer

(2012)   NATURE

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

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

AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome

(2011) Monica L. Marvin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic architecture of cancer and other complex diseases: lessons learned and future directions

(2011) Lucia A. Hindorff et al.   CARCINOGENESIS

Recurrence and variability of germline EPCAM deletions in Lynch syndrome

(2011) Roland P. Kuiper et al.   HUMAN MUTATION

Confirmation of Linkage to and Localization of Familial Colon Cancer Risk Haplotype on Chromosome 9q22

(2010) C. Gray-McGuire et al.   CANCER RESEARCH

A ‘metastasis-prone’ signature for early-stage mismatch-repair proficient sporadic colorectal cancer patients and its implications for possible therapeutics

(2010) Yi Hong et al.   CLINICAL & EXPERIMENTAL METASTASIS

The DNA methylome

(2010) Mattia Pelizzola et al.   FEBS LETTERS

Microsatellite Instability in Colorectal Cancer

(2010) C. Richard Boland et al.   GASTROENTEROLOGY

HomozygousBUB1BMutation and Susceptibility to Gastrointestinal Neoplasia

(2010) Thomas Rio Frio et al.   NEW ENGLAND JOURNAL OF MEDICINE

Germline Bone Morphogenesis Protein Receptor 1A Mutation Causes Colorectal Tumorigenesis in Hereditary Mixed Polyposis Syndrome

(2009) Peh Yean Cheah et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Hereditary mixed polyposis syndrome due to a BMPR1A mutation

(2009) J. M. O’Riordan et al.   Colorectal Disease

Deletions removing the last exon ofTACSTD1constitute a distinct class of mutations predisposing to Lynch syndrome

(2009) Marietta E. Kovacs et al.   HUMAN MUTATION

A Simplified, Noninvasive Stool DNA Test for Colorectal Cancer Detection

(2008) Steven Itzkowitz et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

(2008) Katharina Wimmer et al.   HUMAN GENETICS

Individualized Prediction of Colon Cancer Recurrence Using a Nomogram

(2008) Martin R. Weiser et al.   JOURNAL OF CLINICAL ONCOLOGY

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

Molecular Basis of Metastasis

(2008) Anne C. Chiang et al.   NEW ENGLAND JOURNAL OF MEDICINE