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MODERN PATHOLOGY (2013)
Signatures of mutational processes in human cancer
Ludmil B. Alexandrov et al.
NATURE (2013)
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
Claire Palles et al.
NATURE GENETICS (2013)
BRAF mutation in sporadic colorectal cancer and Lynch syndrome
Alexandra Thiel et al.
VIRCHOWS ARCHIV (2013)
Ovarian Endometrioid Adenocarcinoma: Incidence and Clinical Significance of the Morphologic and Immunohistochemical Markers of Mismatch Repair Protein Defects and Tumor Microsatellite Instability
Anil Aysal et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2012)
Microsatellite Instability and DNA Mismatch Repair Protein Deficiency in Lynch Syndrome Colorectal Polyps
Matthew B. Yurgelun et al.
CANCER PREVENTION RESEARCH (2012)
MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study
Mireia Gausachs et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤70 years
Celine H. M. Leenen et al.
GYNECOLOGIC ONCOLOGY (2012)
Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of lynch syndrome
Heleen M. van der Klift et al.
HUMAN MUTATION (2012)
Evaluation of predictive models in daily practice for the identification of patients with Lynch syndrome
Christophe Tresallet et al.
INTERNATIONAL JOURNAL OF CANCER (2012)
Molecular Characterization of Endometrial Cancer: A Correlative Study Assessing Microsatellite Instability, MLH1 Hypermethylation, DNA Mismatch Repair Protein Expression, and PTEN, PIK3CA, KRAS, and BRAF Mutation Analysis
Lisa M. Peterson et al.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY (2012)
Identification of Lynch Syndrome Among Patients With Colorectal Cancer
Leticia Moreira et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2012)
Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification
Michael T. Parsons et al.
JOURNAL OF MEDICAL GENETICS (2012)
ColoSeq Provides Comprehensive Lynch and Polyposis Syndrome Mutational Analysis Using Massively Parallel Sequencing
Colin C. Pritchard et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2012)
Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry
Michael D. Walsh et al.
MODERN PATHOLOGY (2012)
Prevalence of mismatch repair-deficient crypt foci in Lynch syndrome: a pathological study
Matthias Kloor et al.
LANCET ONCOLOGY (2012)
Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays
Christopher D. Heinen et al.
HEREDITARY CANCER IN CLINICAL PRACTICE (2012)
Mutation deep within an intron of MSH2 causes Lynch syndrome
Mark Clendenning et al.
FAMILIAL CANCER (2011)
Intestinal Inflammation and Cancer
Thomas A. Ullman et al.
GASTROENTEROLOGY (2011)
Ovarian cancer linked to lynch syndrome typically presents as early-onset, non-serous epithelial tumors
Zohreh Ketabi et al.
GYNECOLOGIC ONCOLOGY (2011)
Recurrence and Variability of Germline EPCAM Deletions in Lynch Syndrome
Roland P. Kuiper et al.
HUMAN MUTATION (2011)
Frequency of mismatch repair deficiency in ovarian cancer: a systematic review
Megan A. Murphy et al.
INTERNATIONAL JOURNAL OF CANCER (2011)
Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome
Valerie Bonadona et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2011)
High microsatellite instability predicts good prognosis in intestinal-type gastric cancers
Hyunki Kim et al.
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY (2011)
Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome
Monika Morak et al.
JOURNAL OF MEDICAL GENETICS (2011)
Frequency of Deletions of EPCAM (TACSTD1) in MSH2-Associated Lynch Syndrome Cases
Kandelaria Rumilla et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2011)
Upper Urinary Tract Carcinoma in Lynch Syndrome Cases
David G. Crockett et al.
JOURNAL OF UROLOGY (2011)
A two-antibody mismatch repair protein immunohistochemistry screening approach for colorectal carcinomas, skin sebaceous tumors, and gynecologic tract carcinomas
Amirkaveh Mojtahed et al.
MODERN PATHOLOGY (2011)
Neoadjuvant Therapy Induces Loss of MSH6 Expression in Colorectal Carcinoma
Fei Bao et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2010)
Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats
J-F You et al.
BRITISH JOURNAL OF CANCER (2010)
Selection of patients with germline MLH1 mutated Lynch syndrome by determination of MLH1 methylation and BRAF mutation
Hanifa Bouzourene et al.
FAMILIAL CANCER (2010)
MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions
Jeremie H. Lefevre et al.
FAMILIAL CANCER (2010)
Hereditary Pancreatic Cancer
Shilpa Grover et al.
GASTROENTEROLOGY (2010)
Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds
Eli Marie Grindedal et al.
JOURNAL OF MEDICAL GENETICS (2010)
Methylation Analysis of MLH1 Improves the Selection of Patients for Genetic Testing in Lynch Syndrome
Lucia Perez-Carbonell et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2010)
A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome
Els van Riel et al.
HEREDITARY CANCER IN CLINICAL PRACTICE (2010)
Somatic Mosaicism in a Patient With Lynch Syndrome
Chiara Pastrello et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Towards Identification of Hereditary DNA Mismatch Repair Deficiency: Sebaceous Neoplasm Warrants Routine Immunohistochemical Screening Regardless of Patient's Age or Other Clinical Characteristics
Lurmag Orta et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2009)
Histopathologic Features and Microsatellite Instability of Cancers of the Papilla of Vater and Their Precursor Lesions
Petra Ruemmele et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2009)
Intraductal Papillary Mucinous Neoplasm of the Pancreas With Loss of Mismatch Repair in a Patient With Lynch Syndrome
Jennifer A. Sparr et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2009)
Utility of p16 Immunohistochemistry for the Identification of Lynch Syndrome
Artemio Paya et al.
CLINICAL CANCER RESEARCH (2009)
EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome
Glenn E. Palomaki et al.
GENETICS IN MEDICINE (2009)
Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinoma
K. Garg et al.
JOURNAL OF CLINICAL PATHOLOGY (2009)
Deficient DNA Mismatch Repair Is Common in Lynch Syndrome-Associated Colorectal Adenomas
Maria Simona Pino et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2009)
Mononucleotide precedes dinucleotide repeat instability during colorectal tumour development in Lynch syndrome patients
Ana M. Ferreira et al.
JOURNAL OF PATHOLOGY (2009)
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3 ' exons of TACSTD1
Marjolijn J. L. Ligtenberg et al.
NATURE GENETICS (2009)
Clinicopathologic factors identify sporadic mismatch repair-defective colon cancers
Britta Halvarsson et al.
AMERICAN JOURNAL OF CLINICAL PATHOLOGY (2008)
A review of the clinical relevance of mismatch-repair deficiency in ovarian cancer
Tuya Pal et al.
CANCER (2008)
Molecular Characterization of MSI-H Colorectal Cancer by MLH1 Promoter Methylation, Immunohistochemistry, and Mismatch Repair Germline Mutation Screening
Jenny N. Poynter et al.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION (2008)
Differential cancer predisposition in Lynch syndrome: insights from molecular analysis of brain and urinary tract tumors
A. H. S. Gylling et al.
CARCINOGENESIS (2008)
Molecular, pathologic, and clinical features of early-onset endometrial cancer: Identifying presumptive lynch syndrome patients
Michael D. Walsh et al.
CLINICAL CANCER RESEARCH (2008)
A prospective, multicenter, population-based study of BRAF mutational analysis for lynch syndrome screening
[Anonymous]
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY (2008)
Upper Urinary Tract Urothelial Cell Carcinomas and Other Urological Malignancies Involved in the Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) Tumor Spectrum
Morgan Roupret et al.
EUROPEAN UROLOGY (2008)
The 10-Mb paracentric inversion of chromosome arm 2p inactivating MSH2 and causing hereditary nonpolyposis colorectal cancer:: Re-annotation and mutational mechanisms
Jian-Min Chen
GENES CHROMOSOMES & CANCER (2008)
Routinely assessed morphological features correlate with microsatellite instability status in endometrial cancer
Jinru Shia et al.
HUMAN PATHOLOGY (2008)
Feasibility of Screening for Lynch Syndrome Among Patients With Colorectal Cancer
Heather Hampel et al.
JOURNAL OF CLINICAL ONCOLOGY (2008)
Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome - Part II. The utility of microsatellite instability testing
Liying Zhang
JOURNAL OF MOLECULAR DIAGNOSTICS (2008)
Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome - Part I. The utility of immunohistochemistry
Jinru Shia
JOURNAL OF MOLECULAR DIAGNOSTICS (2008)
The frequency of Muir-Torre syndrome among lynch syndrome families
Christopher D. South et al.
JOURNAL OF THE NATIONAL CANCER INSTITUTE (2008)
Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome
N. Rahner et al.
JOURNAL OF PATHOLOGY (2008)
Assessment of MLH1 promoter methylation in relation to gene expression requires specific analysis
E. Capel et al.
ONCOGENE (2007)
Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer
Karen H. Lu et al.
JOURNAL OF CLINICAL ONCOLOGY (2007)
Is surveillance of the small bowel indicated for Lynch syndrome families?
G. L. ten Kate et al.
GUT (2007)
Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer
Natasha Watson et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2007)
Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: A population-based study
Mark A. Jenkins et al.
GASTROENTEROLOGY (2007)
Distinction of hereditary nonpolyposis colorectal cancer and sporadic microsatellite-unstable colorectal cancer through quantification of MLH1 methylation by real-time PCR
Marcus Bettstetter et al.
CLINICAL CANCER RESEARCH (2007)
Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors
Rosa M. Xicola et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2007)
Classification of colorectal cancer based on correlation of clinical, morphological and molecular features
J. R. Jass
HISTOPATHOLOGY (2007)
Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer
M. B. Loughrey et al.
FAMILIAL CANCER (2007)
Medullary carcinoma of the pancreas in a man with hereditary nonpolyposis colorectal cancer due to a mutation of the MSH2 mismatch repair gene
Niamh Banville et al.
HUMAN PATHOLOGY (2006)
Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer
Tsun Leung Chan et al.
NATURE GENETICS (2006)
Prediction of MLH1 and MSH2 mutations in Lynch syndrome
Judith Balmana et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2006)
Prediction of germline mutations and cancer risk in the Lynch syndrome
Sining Chen et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2006)
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients
Heather Hampel et al.
CANCER RESEARCH (2006)
Histologic features distinguish microsatellite-high from microsatellite-low and microsatellite-stable colorectal carcinomas, but do not differentiate germline mutations from methylation of the MLH1 promoter
Martha Yearsley et al.
HUMAN PATHOLOGY (2006)
CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer
Daniel J. Weisenberger et al.
NATURE GENETICS (2006)
Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer
Rebecca A. Barnetson et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Detection of microsatellite instability in endometrial cancer: advantages of a panel of five mononucleotide repeats over the National Cancer Institute panel of markers
YF Wong et al.
CARCINOGENESIS (2006)
Long-range PCR facilitates the identification of PMS2-specific mutations
M Clendenning et al.
HUMAN MUTATION (2006)
Microsatellite instability and mutation analysis of candidate genes in urothelial cell carcinomas of upper urinary tract
P Mongiat-Artus et al.
ONCOGENE (2006)
Pathologic features of endometrial carcinoma associated with HNPCC - A comparison with sporadic endometrial carcinoma
RR Broaddus et al.
CANCER (2006)
Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer
C Engel et al.
INTERNATIONAL JOURNAL OF CANCER (2006)
Women with synchronous primary cancers of the endometrium and ovary: Do they have Lynch syndrome?
PT Soliman et al.
JOURNAL OF CLINICAL ONCOLOGY (2005)
Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining
E Mangold et al.
JOURNAL OF PATHOLOGY (2005)
Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer
MC Southey et al.
JOURNAL OF CLINICAL ONCOLOGY (2005)
Low frequency of BRAF and CDKN2A mutations in endometrial cancer
HB Salvesen et al.
INTERNATIONAL JOURNAL OF CANCER (2005)
Screening for the Lynch syndrome (Hereditary nonpolyposis colorectal cancer).
H Hampel et al.
NEW ENGLAND JOURNAL OF MEDICINE (2005)
Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas - Role of clinical features, microsatellite instability, and immunohistochemistry
G Ponti et al.
CANCER (2005)
Microsatellite instability and DNA mismatch repair deficiency testing in hereditary and sporadic gastrointestinal cancers
A Gologan et al.
CLINICS IN LABORATORY MEDICINE (2005)
Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms
J Shia et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2005)
BRAF mutation in endometrial carcinoma and hyperplasia: Correlation with KRAS and p53 mutations and mismatch repair protein expression
YZ Feng et al.
CLINICAL CANCER RESEARCH (2005)
RAS/RAF mutation and defective DNA mismatch repair in endometrial cancers
DG Mutch et al.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2004)
A large MSH2 Alu insertion mutation causes HNPCC in a German kindred
M Kloor et al.
HUMAN GENETICS (2004)
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing
E Domingo et al.
JOURNAL OF MEDICAL GENETICS (2004)
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations:: Impact on counseling and surveillance
YMC Hendriks et al.
GASTROENTEROLOGY (2004)
The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC
AE De Jong et al.
GASTROENTEROLOGY (2004)
Colorectal carcinogenesis: MSI-H versus MSI-L
TM Pawlik et al.
DISEASE MARKERS (2004)
Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis
O Buhard et al.
DISEASE MARKERS (2004)
Frequency of microsatellite instability in unselected sebaceous gland neoplasias and hyperplasias
R Kruse et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2003)
Urothelial carcinoma of the upper urinary tract:: Inverted growth pattern is predictive of microsatellite instability
A Hartmann et al.
HUMAN PATHOLOGY (2003)
Value of histopathology in predicting microsatellite instability in hereditary nonpolyposis colorectal cancer and sporadic colorectal cancer
J Shia et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2003)
Evaluation of tumor microsatellite instability using five quasi monomorphic mononucleotide repeats and pentaplex PCR
N Suraweera et al.
GASTROENTEROLOGY (2002)
A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred
A Wagner et al.
GENES CHROMOSOMES & CANCER (2002)
Endometrial and colorectal tumors from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability
SA Kuismanen et al.
AMERICAN JOURNAL OF PATHOLOGY (2002)
Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings - Parallel pathways of tumorigenesis
J Young et al.
AMERICAN JOURNAL OF PATHOLOGY (2001)
The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer
P Watson et al.
GYNECOLOGIC ONCOLOGY (2001)
Atypical HNPCC owing to MSH6 germline mutations:: analysis of a large Dutch pedigree
A Wagner et al.
JOURNAL OF MEDICAL GENETICS (2001)
Microsatellite instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer
S Salahshor et al.
LABORATORY INVESTIGATION (2001)
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