Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers

Risk of Cancer in Cases of Suspected Lynch Syndrome Without Germline Mutation

(2013) María Rodríguez–Soler et al.   GASTROENTEROLOGY

Somatic Mutations in MLH1 and MSH2 Are a Frequent Cause of Mismatch-Repair Deficiency in Lynch Syndrome-Like Tumors

(2013) Arjen R. Mensenkamp et al.   GASTROENTEROLOGY

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

(2013) Bryony A Thompson et al.   NATURE GENETICS

EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients

(2012) Marjolijn J. L. Ligtenberg et al.   Familial Cancer

Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors

(2012) Isabelle Sourrouille et al.   Familial Cancer

Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤70years

(2012) Celine H.M. Leenen et al.   GYNECOLOGIC ONCOLOGY

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

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

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Molecular diagnostics of a single multifocal non-small cell lung cancer case using targeted next generation sequencing

(2012) Willemina R. R. Geurts-Giele et al.   VIRCHOWS ARCHIV

LOH and copy neutral LOH (cnLOH) act as alternative mechanism in sporadic colorectal cancers with chromosomal and microsatellite instability

(2011) R. Melcher et al.   CARCINOGENESIS

A meta-analysis of the prevalence of somatic mutations in the hMLH1 and hMSH2 genes in colorectal cancer

(2011) R. Zhang et al.   Colorectal Disease

Detection of KRAS and BRAF Mutations in Colorectal Carcinoma

(2011) Maria Arcila et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome

(2011) Margot GF van Lier et al.   JOURNAL OF PATHOLOGY

Prioritization of driver mutations in pancreatic cancer using cancer-specific high-throughput annotation of somatic mutations (CHASM)

(2010) Hannah Carter et al.   CANCER BIOLOGY & THERAPY

Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis

(2010) Wendy De Roock et al.   LANCET ONCOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

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

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

Two Multiplex Assays That Simultaneously Identify 22 Possible Mutation Sites in the KRAS, BRAF, NRAS and PIK3CA Genes

(2010) Irene Lurkin et al.   PLoS One

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

(2010) Jeremy Goecks et al.   GENOME BIOLOGY

A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory

(2009) Margot G.F. Van Lier et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Meta-Analysis ofMSH6Gene Mutation Frequency in Colorectal and Endometrial Cancers

(2009) Ya-shuang Zhao et al.   JOURNAL OF TOXICOLOGY AND ENVIRONMENTAL HEALTH-PART A-CURRENT ISSUES

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

(2009) Prateek Kumar et al.   Nature Protocols

Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation

(2008) D. A. Stupart et al.   Colorectal Disease

Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas

(2008) Marjo van Puijenbroek et al.   Familial Cancer

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

Feasibility of Screening for Lynch Syndrome Among Patients With Colorectal Cancer

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

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1

(2008) Marjolijn J L Ligtenberg et al.   NATURE GENETICS

CRAF inhibition induces apoptosis in melanoma cells with non-V600E BRAF mutations

(2008) K S M Smalley et al.   ONCOGENE