Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes

Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients

(2010) Florentia Fostira et al.   BMC CANCER

DNA Slippage Occurs at Microsatellite Loci without Minimal Threshold Length in Humans: A Comparative Genomic Approach

(2010) S. Leclercq et al.   Genome Biology and Evolution

Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP

(2010) A. Lagarde et al.   JOURNAL OF MEDICAL GENETICS

Diverse somatic mutation patterns and pathway alterations in human cancers

(2010) Zhengyan Kan et al.   NATURE

Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden

(2010) Laura Thomas et al.   NEUROGENETICS

Germline Variation Controls the Architecture of Somatic Alterations in Tumors

(2010) Amy M. Dworkin et al.   PLoS Genetics

Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer

(2009) Sean V. Tavtigian et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cancer-Specific High-Throughput Annotation of Somatic Mutations: Computational Prediction of Driver Missense Mutations

(2009) H. Carter et al.   CANCER RESEARCH

Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function

(2009) Glenn P. Lobo et al.   HUMAN MOLECULAR GENETICS

TheAPCVariant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somaticAPCmutations

(2009) Anthony R. Dallosso et al.   HUMAN MUTATION

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients

(2009) Barbara Tappino et al.   HUMAN MUTATION

Gene conversion causing human inherited disease: Evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair

(2009) Nadia Chuzhanova et al.   HUMAN MUTATION

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods

(2009) Janita Thusberg et al.   HUMAN MUTATION

Human DNA methylomes at base resolution show widespread epigenomic differences

(2009) Ryan Lister et al.   NATURE

The cancer genome

(2009) Michael R. Stratton et al.   NATURE

Mutation patterns in cancer genomes

(2009) A. F. Rubin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Advances in Chemical Carcinogenesis: A Historical Review and Prospective

(2008) L. A. Loeb et al.   CANCER RESEARCH

Sequence-based advances in the definition of cancer-associated gene mutations

(2008) Andrew JG Simpson   CURRENT OPINION IN ONCOLOGY

Human germline and somatic cells have similar TP53 and Kirsten‐RAS gene single base mutation frequencies

(2008) Derek N. Cole et al.   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

Design and analysis issues in genome-wide somatic mutation studies of cancer

(2008) Giovanni Parmigiani et al.   GENOMICS

Assessment of functional effects of unclassified genetic variants

(2008) Fergus J. Couch et al.   HUMAN MUTATION

In silico analysis of missense substitutions using sequence-alignment based methods

(2008) Sean V. Tavtigian et al.   HUMAN MUTATION

A meta-analysis of nonsense mutations causing human genetic disease

(2008) Matthew Mort et al.   HUMAN MUTATION

Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motif

(2008) Nick M. Makridakis et al.   HUMAN MUTATION

Complex germline and somatic mutation processes at a haploid human minisatellite shown by single-molecule analysis

(2008) Morag E. Shanks et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS