Low-levelAPCmutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases

High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations

(2015) Astrid A. Out et al.   Familial Cancer

Frequency and phenotypic spectrum of germline mutations inPOLEand seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

(2015) Isabel Spier et al.   INTERNATIONAL JOURNAL OF CANCER

Detection of APC mosaicism by next-generation sequencing in an FAP patient

(2015) Kiyoshi Yamaguchi et al.   JOURNAL OF HUMAN GENETICS

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis

(2014) Sukanya Horpaopan et al.   INTERNATIONAL JOURNAL OF CANCER

Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer

(2013) Richarda M. de Voer et al.   GASTROENTEROLOGY

Role of MUTYH in human cancer

(2013) Filomena Mazzei et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

PTENmosaicism with features of Cowden syndrome

(2012) A Gammon et al.   CLINICAL GENETICS

Deep intronicAPCmutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis

(2012) Isabel Spier et al.   HUMAN MUTATION

Prevalence and Phenotypes of APC and MUTYH Mutations in Patients With Multiple Colorectal Adenomas

(2012) Shilpa Grover et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer

(2012) Jérémie H Lefevre et al.   JOURNAL OF HUMAN GENETICS

Exploring the variation within

(2012) Evan Z Macosko 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

A remarkable APC mosaicism with two mutant alleles in a family with familial adenomatous polyposis

(2011) Stéphanie Baert-Desurmont et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Targeted high throughput sequencing in clinical cancer Settings: formaldehyde fixed-paraffin embedded (FFPE) tumor tissues, input amount and tumor heterogeneity

(2011) Martin Kerick et al.   BMC Medical Genomics

APC Somatic Mosaicism in a Patient with Gardner Syndrome Carrying the E1573X Mutation: Report of a Case

(2011) Bruno Filipe et al.   DISEASES OF THE COLON & RECTUM

Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis: a plea for the protein truncation test

(2011) J. Necker et al.   JOURNAL OF MEDICAL GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

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

HomozygousBUB1BMutation and Susceptibility to Gastrointestinal Neoplasia

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

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

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques

(2009) Anna Rohlin et al.   HUMAN MUTATION

Genome-Wide Massively Parallel Sequencing of Formaldehyde Fixed-Paraffin Embedded (FFPE) Tumor Tissues for Copy-Number- and Mutation-Analysis

(2009) Michal R. Schweiger et al.   PLoS One

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multiple Rare Nonsynonymous Variants in the Adenomatous Polyposis Coli Gene Predispose to Colorectal Adenomas

(2008) D. Azzopardi et al.   CANCER RESEARCH

Functional definition of the mutation cluster region of adenomatous polyposis coli in colorectal tumours

(2008) E. M. Kohler et al.   HUMAN MOLECULAR GENETICS