Published in Gastroenterology on July 01, 2004
Microsatellite instability in colorectal cancer. Gastroenterology (2010) 7.39
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet (2007) 4.62
Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet (2009) 3.99
EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med (2009) 3.57
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology (2008) 3.35
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol (2015) 3.19
Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population. Cancer Prev Res (Phila) (2010) 2.86
Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst (2009) 2.56
Results from an American Society of Colon and Rectal Surgeons survey on the management of young-onset colorectal cancer. Tech Coloproctol (2013) 2.01
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn (2012) 1.99
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol (2010) 1.98
Lynch syndrome genes. Fam Cancer (2005) 1.94
The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch syndrome: from bench to bedside. Fam Cancer (2007) 1.76
Endometrial cancer and Lynch syndrome: clinical and pathologic considerations. Cancer Control (2009) 1.66
Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management. Mol Oncol (2009) 1.61
Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC). Fam Cancer (2007) 1.45
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. Hum Mutat (2011) 1.44
PMS2 monoallelic mutation carriers: the known unknown. Genet Med (2015) 1.44
Evolution of the nomenclature for the hereditary colorectal cancer syndromes. Fam Cancer (2005) 1.40
The inherited genetics of ovarian and endometrial cancer. Curr Opin Genet Dev (2010) 1.32
Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. J Med Genet (2010) 1.30
Pathology of hereditary breast cancer. Cell Oncol (Dordr) (2011) 1.28
Cancer risk in Lynch Syndrome. Fam Cancer (2013) 1.19
Current and emerging trends in Lynch syndrome identification in women with endometrial cancer. Gynecol Oncol (2009) 1.19
Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)]. Fam Cancer (2005) 1.15
Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases. Cancer Res (2009) 1.14
Lynch syndrome: an updated review. Genes (Basel) (2014) 1.02
Adrenocortical carcinoma is a lynch syndrome-associated cancer. J Clin Oncol (2013) 1.02
Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. Fam Cancer (2008) 0.97
MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease. Br J Cancer (2006) 0.96
A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory. J Cell Mol Med (2009) 0.96
Breast cancer immunohistochemistry can be useful in triage of some HNPCC families. Fam Cancer (2009) 0.95
Recently identified colon cancer predispositions: MYH and MSH6 mutations. Semin Oncol (2007) 0.94
Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions. Proc Natl Acad Sci U S A (2010) 0.94
Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding. J Biol Chem (2008) 0.93
Cancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical management. Hered Cancer Clin Pract (2009) 0.91
Gynecologic Cancers in Lynch Syndrome/HNPCC. Fam Cancer (2005) 0.91
Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome. Int J Colorectal Dis (2013) 0.90
Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability. Br J Cancer (2006) 0.90
Application of molecular diagnostics for the detection of Lynch syndrome. Expert Rev Mol Diagn (2010) 0.89
Evidence for an hMSH3 defect in familial hamartomatous polyps. Cancer (2010) 0.87
Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers. PLoS One (2013) 0.87
Anticipation in lynch syndrome: where we are where we go. Curr Genomics (2011) 0.87
Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. Mod Pathol (2016) 0.87
Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis. Fam Cancer (2010) 0.86
An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC. Fam Cancer (2010) 0.86
Extracolonic manifestations of hereditary colorectal cancer syndromes. Clin Colon Rectal Surg (2008) 0.85
Surveillance in Lynch syndrome. Fam Cancer (2005) 0.85
Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum. Hered Cancer Clin Pract (2008) 0.85
Clinical phenotype and prevalence of hereditary nonpolyposis colorectal cancer syndrome in Chinese population. World J Gastroenterol (2005) 0.85
Molecular basis for subdividing hereditary colon cancer? Gut (2005) 0.85
Evaluation of clinical criteria for the identification of Lynch syndrome among unselected patients with endometrial cancer. Cancer Prev Res (Phila) (2014) 0.85
Contribution of large genomic rearrangements in Italian Lynch syndrome patients: characterization of a novel alu-mediated deletion. Biomed Res Int (2012) 0.84
Surgical treatment of hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome). Fam Cancer (2013) 0.84
Hereditary colon cancer: lynch syndrome. Gut Liver (2010) 0.83
Lower uterine segment involvement is associated with poor outcomes in early-stage endometrioid endometrial carcinoma. Ann Surg Oncol (2010) 0.83
Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL. Genes Chromosomes Cancer (2012) 0.82
Management of ovarian and endometrial cancers in women belonging to HNPCC carrier families: review of the literature and results of cancer risk assessment in Polish HNPCC families. Hered Cancer Clin Pract (2015) 0.82
Relationship of lower uterine segment cancer with Lynch syndrome: a novel case with an hMLH1 germline mutation. Oncol Rep (2012) 0.82
Lynch syndrome related endometrial cancer: clinical significance beyond the endometrium. J Hematol Oncol (2013) 0.82
Update on Lynch syndrome genomics. Fam Cancer (2016) 0.81
Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome. Fam Cancer (2012) 0.81
Role of microsatellite instability-low as a diagnostic biomarker of Lynch syndrome in colorectal cancer. Cancer Genet (2014) 0.81
Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. Clin Genet (2010) 0.80
Msh6 protects mature B cells from lymphoma by preserving genomic stability. Am J Pathol (2010) 0.80
Cell cycle-related genes as modifiers of age of onset of colorectal cancer in Lynch syndrome: a large-scale study in non-Hispanic white patients. Carcinogenesis (2012) 0.79
Identification of patients at risk for hereditary colorectal cancer. Clin Colon Rectal Surg (2012) 0.79
Intratumoral heterogeneity of intrahepatic cholangiocarcinoma. Oncotarget (2017) 0.78
Clinicopathological features and management of cancers in lynch syndrome. Patholog Res Int (2012) 0.78
Testing women with endometrial cancer for lynch syndrome: should we test all? J Adv Pract Oncol (2013) 0.78
Evaluation of a new panel of six mononucleotide repeat markers for the detection of DNA mismatch repair-deficient tumours. Br J Cancer (2013) 0.78
Clinicopathological and genetic features of Chinese hereditary nonpolyposis colorectal cancer (HNPCC). Med Oncol (2014) 0.78
Are prediction models for Lynch syndrome valid for probands with endometrial cancer? Fam Cancer (2009) 0.78
Phenotypic heterogeneity of hereditary gynecologic cancers: a report from the Creighton hereditary cancer registry. Fam Cancer (2013) 0.78
Molecular pathogenesis of endometrial cancers in patients with Lynch syndrome. Cancer (2013) 0.78
Mismatch Repair Gene Expression as a Predictor of Tumor Responses in Patients With Rectal Cancer Treated With Preoperative Chemoradiation. Medicine (Baltimore) (2016) 0.77
Utility of endometrial sampling prior to risk-reducing hysterectomy in a patient with Lynch syndrome. Ecancermedicalscience (2016) 0.77
Hereditary gastrointestinal cancer. Surg Today (2015) 0.77
CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein. J Biomed Sci (2013) 0.76
A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic one. Fam Cancer (2011) 0.76
Cost-effectiveness of routine screening for Lynch syndrome in colorectal cancer patients up to 70 years of age. Genet Med (2016) 0.76
Managing young colorectal cancer: a UK and Irish perspective. World J Surg (2014) 0.76
Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. Sci Rep (2015) 0.76
Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients. Oncotarget (2015) 0.75
Making sense of missense in Lynch syndrome: the clinical perspective. Cancer Prev Res (Phila) (2010) 0.75
Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer: contributions from the Dutch Lynch syndrome registry. Fam Cancer (2016) 0.75
Understanding familial colorectal cancer-finding the corner pieces and filling in the center of the puzzle. Gastroenterology (2004) 0.75
Triple synchronous primary malignancies of the colon, endometrium and kidney in a patient with Lynch syndrome treated via minimally invasive techniques. Gynecol Oncol Rep (2016) 0.75
Inherited colorectal cancer syndromes. Clin Colon Rectal Surg (2005) 0.75
Immunotherapy in human colorectal cancer: Challenges and prospective. World J Gastroenterol (2016) 0.75
New classification of endometrial cancers: the development and potential applications of genomic-based classification in research and clinical care. Gynecol Oncol Res Pract (2016) 0.75
Lower gastrointestinal tract cancer predisposition syndromes. Hematol Oncol Clin North Am (2010) 0.75
Subcellular protein expression models for microsatellite instability in colorectal adenocarcinoma tissue images. BMC Bioinformatics (2016) 0.75
Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome. PLoS One (2015) 0.75
Recent advances in understanding Lynch syndrome. F1000Res (2016) 0.75
Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal. J Hum Genet (2015) 0.75
MSH6 syndrome. Hered Cancer Clin Pract (2008) 0.75
Approach to Lynch Syndrome for the Gastroenterologist. Dig Dis Sci (2016) 0.75
Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet (2011) 6.77
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet (2008) 6.26
Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res (2005) 5.70
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat (2008) 5.52
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96
Delayed enhancement cardiovascular magnetic resonance assessment of non-ischaemic cardiomyopathies. Eur Heart J (2005) 4.62
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Cardiovascular magnetic resonance assessment of human myocarditis: a comparison to histology and molecular pathology. Circulation (2004) 4.23
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet (2013) 3.81
Apc modulates embryonic stem-cell differentiation by controlling the dosage of beta-catenin signaling. Nat Genet (2002) 3.60
Gene expression signature to improve prognosis prediction of stage II and III colorectal cancer. J Clin Oncol (2010) 3.30
Myocardial scar visualized by cardiovascular magnetic resonance imaging predicts major adverse events in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol (2010) 3.20
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
Presentation, patterns of myocardial damage, and clinical course of viral myocarditis. Circulation (2006) 3.20
Myocardial scarring in asymptomatic or mildly symptomatic patients with hypertrophic cardiomyopathy. J Am Coll Cardiol (2002) 3.14
Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers (2004) 3.03
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut (2013) 2.86
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet (2012) 2.80
The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade. Hum Mol Genet (2002) 2.69
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet (2012) 2.63
Magnetic resonance imaging of the breast: recommendations from the EUSOMA working group. Eur J Cancer (2010) 2.62
Risks of less common cancers in proven mutation carriers with lynch syndrome. J Clin Oncol (2012) 2.59
CCAT2, a novel noncoding RNA mapping to 8q24, underlies metastatic progression and chromosomal instability in colon cancer. Genome Res (2013) 2.57
Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst (2009) 2.56
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet (2010) 2.52
Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease. Hum Mol Genet (2004) 2.47
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum Mol Genet (2012) 2.45
Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK). BMJ (2012) 2.44
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet (2002) 2.42
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet (2005) 2.40
Reproducibility of chronic infarct size measurement by contrast-enhanced magnetic resonance imaging. Circulation (2002) 2.40
A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer (2006) 2.35
Comparison of formalin-free tissue fixatives: a proteomic study testing their application for routine pathology and research. Arch Pathol Lab Med (2011) 2.35
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet (2006) 2.31
APC and oncogenic KRAS are synergistic in enhancing Wnt signaling in intestinal tumor formation and progression. Gastroenterology (2006) 2.25
EuroCMR (European Cardiovascular Magnetic Resonance) registry: results of the German pilot phase. J Am Coll Cardiol (2009) 2.23
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
Canonical wnt signaling regulates hematopoiesis in a dosage-dependent fashion. Cell Stem Cell (2011) 2.18
Pathology of ovarian cancers in BRCA1 and BRCA2 carriers. Clin Cancer Res (2004) 2.17
PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet (2009) 2.16
A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. Circ Res (2003) 2.15
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum Mol Genet (2005) 2.06
High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome. Gut (2011) 2.06
Immune system and prognosis in colorectal cancer: a detailed immunohistochemical analysis. Lab Invest (2004) 2.05
Deep sequencing to reveal new variants in pooled DNA samples. Hum Mutat (2009) 2.04
Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice. Hum Mol Genet (2007) 2.03
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat (2004) 1.94
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet (2003) 1.93
Acute adverse reactions to gadolinium-based contrast agents in CMR: multicenter experience with 17,767 patients from the EuroCMR Registry. JACC Cardiovasc Imaging (2011) 1.93
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. Eur J Hum Genet (2006) 1.93
Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics. Eur J Hum Genet (2013) 1.93
Human papillomavirus type 16-positive cervical cancer is associated with impaired CD4+ T-cell immunity against early antigens E2 and E6. Cancer Res (2004) 1.90
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet (2013) 1.88
Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group. J Clin Oncol (2007) 1.83
Analysis of minK and eNOS genes as candidate loci for predisposition to non-valvular atrial fibrillation. Eur Heart J (2006) 1.82
Role of CLASP2 in microtubule stabilization and the regulation of persistent motility. Curr Biol (2006) 1.81
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. Am J Hum Genet (2003) 1.80
Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome. Gastroenterology (2008) 1.79
Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma. Eur J Endocrinol (2009) 1.78
Rapid KRAS, EGFR, BRAF and PIK3CA mutation analysis of fine needle aspirates from non-small-cell lung cancer using allele-specific qPCR. PLoS One (2011) 1.78
Reduced folate carrier and folylpolyglutamate synthetase, but not thymidylate synthase predict survival in pemetrexed-treated patients suffering from malignant pleural mesothelioma. J Thorac Oncol (2013) 1.76
Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery. Oncologist (2010) 1.72
Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion. Eur J Hum Genet (2006) 1.71
Satisfaction with prophylactic mastectomy and breast reconstruction in genetically predisposed women. Plast Reconstr Surg (2006) 1.70
Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res (2004) 1.68
Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study. J Clin Oncol (2003) 1.68
Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors. Am J Pathol (2003) 1.67
Copeptin, a surrogate marker for vasopressin, is associated with kidney function decline in subjects with autosomal dominant polycystic kidney disease. Nephrol Dial Transplant (2012) 1.67
PLS3 mutations in X-linked osteoporosis with fractures. N Engl J Med (2013) 1.66
A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis. Cancer Prev Res (Phila) (2011) 1.64
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet (2007) 1.64
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. Nephrol Dial Transplant (2009) 1.62
The bone morphogenetic protein pathway is inactivated in the majority of sporadic colorectal cancers. Gastroenterology (2008) 1.61
Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Genes Chromosomes Cancer (2005) 1.61
The carcinoma-stromal ratio of colon carcinoma is an independent factor for survival compared to lymph node status and tumor stage. Cell Oncol (2007) 1.61
High-resolution copy number analysis of paraffin-embedded archival tissue using SNP BeadArrays. Genome Res (2007) 1.61
European Cardiovascular Magnetic Resonance (EuroCMR) registry--multi national results from 57 centers in 15 countries. J Cardiovasc Magn Reson (2013) 1.60