Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks

Epigenetic mechanisms in the pathogenesis of Lynch syndrome

(2014) P. Peltomäki   CLINICAL GENETICS

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

(2014) Justin M Zook et al.   NATURE BIOTECHNOLOGY

Repair of naturally occurring mismatches can induce mutations in flanking DNA

(2014) Jia Chen et al.   eLife

The Landscape of Microsatellite Instability in Colorectal and Endometrial Cancer Genomes

(2013) Tae-Min Kim et al.   CELL

Somatic Profiling of the Epidermal Growth Factor Receptor Pathway in Tumors from Patients with Advanced Colorectal Cancer Treated with Chemotherapy   Cetuximab

(2013) C. G. Smith et al.   CLINICAL CANCER RESEARCH

Comprehensive genome- and transcriptome-wide analyses of mutations associated with microsatellite instability in Korean gastric cancers

(2013) K. Yoon et al.   GENOME RESEARCH

From human genome to cancer genome: The first decade

(2013) D. A. Wheeler et al.   GENOME RESEARCH

The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes

(2013) S. B. Montgomery et al.   GENOME RESEARCH

Integrated genomic characterization of endometrial carcinoma

(2013) Gad Getz et al.   NATURE

MSH3 Mismatch Repair Protein Regulates Sensitivity to Cytotoxic Drugs and a Histone Deacetylase Inhibitor in Human Colon Carcinoma Cells

(2013) Jae Myung Park et al.   PLoS One

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation

(2012) Amnon Koren et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Trapping of PARP1 and PARP2 by Clinical PARP Inhibitors

(2012) J. Murai et al.   CANCER RESEARCH

Mutational Processes Molding the Genomes of 21 Breast Cancers

(2012) Serena Nik-Zainal et al.   CELL

Improving identification of lynch syndrome patients: A comparison of research data with clinical records

(2012) Yen Y. Tan et al.   INTERNATIONAL JOURNAL OF CANCER

Dissecting the Heterogeneity of Triple-Negative Breast Cancer

(2012) Otto Metzger-Filho et al.   JOURNAL OF CLINICAL ONCOLOGY

Correlation of tumour BRAF mutations andMLH1methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification

(2012) Michael T Parsons et al.   JOURNAL OF MEDICAL GENETICS

MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes

(2012) Lawrence A Donehower et al.   JOURNAL OF PATHOLOGY

Noncanonical Mismatch Repair as a Source of Genomic Instability in Human Cells

(2012) Javier Peña-Diaz et al.   MOLECULAR CELL

BRCA1 Functions Independently of Homologous Recombination in DNA Interstrand Crosslink Repair

(2012) Samuel F. Bunting et al.   MOLECULAR CELL

Comprehensive molecular characterization of human colon and rectal cancer

(2012)   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Estimating the human mutation rate using autozygosity in a founder population

(2012) Catarina D Campbell 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

Parallel High-Throughput RNA Interference Screens Identify PINK1 as a Potential Therapeutic Target for the Treatment of DNA Mismatch Repair-Deficient Cancers

(2011) S. A. Martin et al.   CANCER RESEARCH

MRE11 Deficiency Increases Sensitivity to Poly(ADP-ribose) Polymerase Inhibition in Microsatellite Unstable Colorectal Cancers

(2011) E. Vilar et al.   CANCER RESEARCH

Visualization of Eukaryotic DNA Mismatch Repair Reveals Distinct Recognition and Repair Intermediates

(2011) Hans Hombauer et al.   CELL

KRAS Mutation Is Associated with Lung Metastasis in Patients with Curatively Resected Colorectal Cancer

(2011) J. Tie et al.   CLINICAL CANCER RESEARCH

MSH3 Mediates Sensitization of Colorectal Cancer Cells to Cisplatin, Oxaliplatin, and a Poly(ADP-ribose) Polymerase Inhibitor

(2011) Masanobu Takahashi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing

(2011) Joke Reumers et al.   NATURE BIOTECHNOLOGY

Expression of a mutant HSP110 sensitizes colorectal cancer cells to chemotherapy and improves disease prognosis

(2011) Coralie Dorard et al.   NATURE MEDICINE

Sensitive and specific single-molecule sequencing of 5-hydroxymethylcytosine

(2011) Chun-Xiao Song et al.   NATURE METHODS

Variation in the mutation rate across mammalian genomes

(2011) Alan Hodgkinson et al.   NATURE REVIEWS GENETICS

The Reactome BioMart

(2011) R. A. Haw et al.   Database-The Journal of Biological Databases and Curation

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

DNA Polymerases as Potential Therapeutic Targets for Cancers Deficient in the DNA Mismatch Repair Proteins MSH2 or MLH1

(2010) Sarah A. Martin et al.   CANCER CELL

Impact of replication timing on non-CpG and CpG substitution rates in mammalian genomes

(2010) C. L. Chen et al.   GENOME RESEARCH

Dindel: Accurate indel calls from short-read data

(2010) C. A. Albers et al.   GENOME RESEARCH

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

(2010) A. McKenna et al.   GENOME RESEARCH

Microsatellite Instability and Adjuvant Fluorouracil Chemotherapy: A Mismatch?

(2010) Kimmie Ng et al.   JOURNAL OF CLINICAL ONCOLOGY

Mismatch repair deficient colorectal cancer in the era of personalized treatment

(2010) Madeleine Hewish et al.   Nature Reviews Clinical Oncology

Allele-specific copy number analysis of tumors

(2010) P. Van Loo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

KRASandBRAFMutations in Advanced Colorectal Cancer Are Associated With Poor Prognosis but Do Not Preclude Benefit From Oxaliplatin or Irinotecan: Results From the MRC FOCUS Trial

(2009) Susan D. Richman et al.   JOURNAL OF CLINICAL ONCOLOGY

A small-cell lung cancer genome with complex signatures of tobacco exposure

(2009) Erin D. Pleasance et al.   NATURE

A comprehensive catalogue of somatic mutations from a human cancer genome

(2009) Erin D. Pleasance et al.   NATURE

Human mutation rate associated with DNA replication timing

(2009) John A Stamatoyannopoulos et al.   NATURE GENETICS

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

Feasibility of Screening for Lynch Syndrome Among Patients With Colorectal Cancer

(2008) Heather Hampel et al.   JOURNAL OF CLINICAL ONCOLOGY