Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer

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(2019) Maria Rigau et al.   PLoS Genetics

The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis

(2019) N. A. J. Ryan et al.   GENETICS IN MEDICINE

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

(2019) Alexandre Xavier et al.   Molecular Genetics & Genomic Medicine

Mutation hotspots at CTCF binding sites coupled to chromosomal instability in gastrointestinal cancers

(2018) Yu Amanda Guo et al.   Nature Communications

Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair

(2018) N. J. Haradhvala et al.   Nature Communications

Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries

(2018) Freddie Bray et al.   CA-A CANCER JOURNAL FOR CLINICIANS

Human Exonuclease 1 (EXO1) Regulatory Functions in DNA Replication with Putative Roles in Cancer

(2018) Guido Keijzers et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma

(2017) Andrew S. Brohl et al.   GENETICS IN MEDICINE

Deep intronic mutations and human disease

(2017) Rita Vaz-Drago et al.   HUMAN GENETICS

Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing

(2017) Jonathan A. Nowak et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

International Patterns and Trends in Endometrial Cancer Incidence, 1978–2013

(2017) Joannie Lortet-Tieulent et al.   JNCI-Journal of the National Cancer Institute

JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework

(2017) Aziz Khan et al.   NUCLEIC ACIDS RESEARCH

New use of microsatellite instability analysis in endometrial cancer

(2017) Haruko Kunitomi et al.   Oncology Letters

International Patterns and Trends in Endometrial Cancer Incidence, 1978–2013

(2017) Joannie Lortet-Tieulent et al.   JNCI-Journal of the National Cancer Institute

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

Comprehensive Mutation Analysis ofPMS2in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

(2016) Heleen M. van der Klift et al.   HUMAN MUTATION

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

(2016) David Salgado et al.   HUMAN MUTATION

UniProt: the universal protein knowledgebase

(2016)   NUCLEIC ACIDS RESEARCH

Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associatedMSH2DNA mismatch repair gene variants

(2016) Hellen Houlleberghs et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

(2016) Omar Soukarieh et al.   PLoS Genetics

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

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

Associations between Nine Polymorphisms in EXO1 and Cancer Susceptibility: A Systematic Review and Meta-Analysis of 39 Case-control Studies

(2016) Meng Zhang et al.   Scientific Reports

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

Genetic Diagnosis of High-Penetrance Susceptibility for Colorectal Cancer (CRC) Is Achievable for a High Proportion of Familial CRC by Exome Sequencing

(2015) Daniel Chubb et al.   JOURNAL OF CLINICAL ONCOLOGY

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

(2015) Kyriaki Michailidou et al.   NATURE GENETICS

The effect of body mass index on endometrial cancer: a meta-analysis

(2015) E. Jenabi et al.   PUBLIC HEALTH

Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone universal germline mutation testing

(2014) Sarah E. Ferguson et al.   CANCER

Polymerase ɛ (POLE) mutations in endometrial cancer: Clinical outcomes and implications for Lynch syndrome testing

(2014) Caroline C. Billingsley et al.   CANCER

POLEmutations as an alternative pathway for microsatellite instability in endometrial cancer: Implications for Lynch syndrome testing

(2014) Panagiotis A. Konstantinopoulos et al.   CANCER

MicroRNA-370 suppresses proliferation and promotes endometrioid ovarian cancer chemosensitivity to cDDP by negatively regulating ENG

(2014) Xiao-Ping Chen et al.   CANCER LETTERS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Endometrial cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up

(2013) N. Colombo et al.   ANNALS OF ONCOLOGY

Cancer risk in Lynch Syndrome

(2013) Emma Barrow et al.   Familial Cancer

Inactivation of DNA Mismatch Repair by Variants of Uncertain Significance in the PMS2 Gene

(2013) Mark Drost et al.   HUMAN MUTATION

Refining the role ofpms2in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants

(2013) Ester Borràs et al.   JOURNAL OF MEDICAL GENETICS

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis

(2012) S. M. Lo et al.   BLOOD

Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer

(2012) T Pal et al.   BRITISH JOURNAL OF CANCER

MicroRNA-93 inhibits tumor growth and early relapse of human colorectal cancer by affecting genes involved in the cell cycle

(2012) I-Ping Yang et al.   CARCINOGENESIS

Recurrent and founder mutations in thePMS2gene

(2012) J Tomsic et al.   CLINICAL GENETICS

Clinical significance of microRNA-93 downregulation in human colon cancer

(2012) Zhi-Gang Xiao et al.   EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY

Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

(2012) Bryony A. Thompson et al.   HUMAN MUTATION

The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors

(2012) Cathrin Huth et al.   MODERN PATHOLOGY

Extracolonic Manifestations of Lynch Syndrome

(2012) Brian Bansidhar   Clinics in Colon and Rectal Surgery

A two-step site and mRNA-level model for predicting microRNA targets

(2011) Takaya Saito et al.   BMC BIOINFORMATICS

Weak seed-pairing stability and high target-site abundance decrease the proficiency of lsy-6 and other microRNAs

(2011) David M Garcia et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Inferring causative variants in microRNA target sites

(2011) Laurent F. Thomas et al.   NUCLEIC ACIDS RESEARCH

Cancer Statistics, 2010

(2010) A. Jemal et al.   CA-A CANCER JOURNAL FOR CLINICIANS

Mismatch repair status and outcomes after adjuvant therapy in patients with surgically staged endometrial cancer

(2010) Kimberly E. Resnick et al.   GYNECOLOGIC ONCOLOGY

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants

(2010) Minttu Kansikas et al.   HUMAN MUTATION

miRBase: integrating microRNA annotation and deep-sequencing data

(2010) A. Kozomara et al.   NUCLEIC ACIDS RESEARCH

Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions

(2010) S. L. Martinez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Endometrial Cancer as a Familial Tumor: Pathology and Molecular Carcinogenesis (Review)

(2009) Kouji Banno et al.   CURRENT GENOMICS

Detection of nonneutral substitution rates on mammalian phylogenies

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

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

The influence of the Cyclin D1 870 G>A polymorphism as an endometrial cancer risk factor

(2008) Katie A Ashton et al.   BMC CANCER

The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations

(2008) Leigha Senter et al.   GASTROENTEROLOGY

Accurate classification ofMLH1/MSH2missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR)

(2008) Elizabeth C. Chao et al.   HUMAN MUTATION

Mechanisms of pathogenicity in humanMSH2missense mutants

(2008) Saara Ollila et al.   HUMAN MUTATION

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

(2008) Isabelle Tournier et al.   HUMAN MUTATION

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

(2007) Rebecca A. Barnetson et al.   HUMAN MUTATION