Comprehensive mismatch repair gene panel identifies variants in patients with Lynch‐like syndrome

Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer

(2018) Paula Paulo et al.   PLoS Genetics

Detection of novel germline mutations in six breast cancer predisposition genes by targeted next-generation sequencing

(2018) Li Dong et al.   HUMAN MUTATION

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1

(2017) Daniel D Buchanan et al.   GENETICS IN MEDICINE

Cancer Risk in Families Fulfilling the Amsterdam Criteria for Lynch Syndrome

(2017) N. Jewel Samadder et al.   JAMA Oncology

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

FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector

(2016) Magnus D. Vigeland et al.   BIOINFORMATICS

Exonuclease 1 and its versatile roles in DNA repair

(2016) Guido Keijzers et al.   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies

(2016) Emmanuelle Nicolas et al.   GENE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

KEGG: new perspectives on genomes, pathways, diseases and drugs

(2016) Minoru Kanehisa et al.   NUCLEIC ACIDS RESEARCH

The association between RFC1 G80A polymorphism and cancer susceptibility: Evidence from 33 studies

(2016) Xiaoyi Huang et al.   Journal of Cancer

Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families

(2016) Bente A. Talseth-Palmer et al.   Cancer Medicine

Exonuclease 1-dependent and independent mismatch repair

(2015) Eva M. Goellner et al.   DNA REPAIR

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Mismatch Repair

(2015) Richard Fishel   JOURNAL OF BIOLOGICAL CHEMISTRY

EMAST is a Form of Microsatellite Instability That is Initiated by Inflammation and Modulates Colorectal Cancer Progression

(2015) John Carethers et al.   Genes

Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer

(2014) Francis M Giardiello et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Differentiating Lynch-Like From Lynch Syndrome

(2014) John M. Carethers   GASTROENTEROLOGY

Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: A comprehensive analysis of 3,671 families

(2013) Verena Steinke et al.   INTERNATIONAL JOURNAL OF CANCER

The Cancer Genome Atlas Pan-Cancer analysis project

(2013) John N Weinstein 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

Association of MTHFR, MTR, MTRR, RFC1, and DHFR Gene Polymorphisms with Susceptibility to Sporadic Colon Cancer

(2011) Mladen Jokić et al.   DNA AND CELL BIOLOGY

Recurrence and variability of germline EPCAM deletions in Lynch syndrome

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

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

(2010) A. McKenna et al.   GENOME RESEARCH

Association of low-risk MSH3 and MSH2 variant alleles with Lynch syndrome: Probability of synergistic effects

(2010) Francesca Duraturo et al.   INTERNATIONAL JOURNAL OF CANCER

Functional Characterization of a Cancer Causing Mutation in Human Replication Protein A

(2010) C. S. Hass et al.   MOLECULAR CANCER RESEARCH

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

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

DNA mismatch repair: Molecular mechanism, cancer, and ageing

(2008) Peggy Hsieh et al.   MECHANISMS OF AGEING AND DEVELOPMENT