A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine

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

(2014) Laura Valle et al.   HUMAN MOLECULAR GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

(2014) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

Deciphering key features in protein structures with the new ENDscript server

(2014) Xavier Robert et al.   NUCLEIC ACIDS RESEARCH

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

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

CHEK2*1100delC homozygosity in the Netherlands—prevalence and risk of breast and lung cancer

(2013) Petra EA Huijts et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

The promise of whole-exome sequencing in medical genetics

(2013) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

Structural basis for processive DNA synthesis by yeast DNA polymerase ɛ

(2013) Matthew Hogg et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Eleven Candidate Susceptibility Genes for Common Familial Colorectal Cancer

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

Exonuclease 1 preferentially repairs mismatches generated by DNA polymerase α

(2012) Sascha E. Liberti et al.   DNA REPAIR

Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers

(2012) Bente A. Talseth-Palmer et al.   INTERNATIONAL JOURNAL OF CANCER

Comprehensive molecular characterization of human colon and rectal cancer

(2012)   NATURE

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

(2012) Claire Palles et al.   NATURE GENETICS

CDD: conserved domains and protein three-dimensional structure

(2012) Aron Marchler-Bauer et al.   NUCLEIC ACIDS RESEARCH

The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data: Figure 1.

(2012) Ethan Cerami et al.   Cancer Discovery

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

(2011) Hans Hombauer et al.   CELL

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

(2011) F. Sievers et al.   Molecular Systems Biology

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Hereditary Colon Cancer Syndromes

(2011) Manish Gala et al.   SEMINARS IN ONCOLOGY

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

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Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Cancer risks in first-degree relatives of CHEK2 mutation carriers: effects of mutation type and cancer site in proband

(2009) J Gronwald et al.   BRITISH JOURNAL OF CANCER

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

(2009) HT Lynch et al.   CLINICAL GENETICS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

DNA polymerase   and   proofreading suppress discrete mutator and cancer phenotypes in mice

(2009) T. M. Albertson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CHEK2 1100delC Is a Susceptibility Allele for HNPCC-Related Colorectal Cancer

(2008) M. Wasielewski et al.   CLINICAL CANCER RESEARCH