Published in Gastroenterology on August 01, 2005
Microsatellite instability in colorectal cancer. Gastroenterology (2010) 7.39
Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet (2009) 3.99
In silico analysis of missense substitutions using sequence-alignment based methods. Hum Mutat (2008) 2.73
The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch syndrome: from bench to bedside. Fam Cancer (2007) 1.76
Assessment of functional effects of unclassified genetic variants. Hum Mutat (2008) 1.69
Postreplicative mismatch repair. Cold Spring Harb Perspect Biol (2013) 1.67
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. Hum Mutat (2011) 1.44
Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance. Hum Mutat (2008) 1.35
Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors. Gut (2008) 1.26
Rad9 plays an important role in DNA mismatch repair through physical interaction with MLH1. Nucleic Acids Res (2008) 1.13
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. Hum Genet (2005) 1.13
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. BMC Genomics (2006) 1.08
Genetic variation in genes for the xenobiotic-metabolizing enzymes CYP1A1, EPHX1, GSTM1, GSTT1, and GSTP1 and susceptibility to colorectal cancer in Lynch syndrome. Cancer Epidemiol Biomarkers Prev (2008) 1.06
Human MLH1 protein participates in genomic damage checkpoint signaling in response to DNA interstrand crosslinks, while MSH2 functions in DNA repair. PLoS Genet (2008) 1.06
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. Hum Mutat (2010) 1.02
Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry. Genet Med (2012) 0.99
The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population. BMC Med Genet (2008) 0.97
Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis. Proc Natl Acad Sci U S A (2008) 0.94
The mechanism of mismatch repair and the functional analysis of mismatch repair defects in Lynch syndrome. Fam Cancer (2013) 0.94
Mismatch repair protein expression and colorectal cancer in Hispanics from Puerto Rico. Fam Cancer (2010) 0.94
Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID. PLoS One (2010) 0.93
Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. Br J Cancer (2012) 0.93
Evolution of DNA repair defects during malignant progression of low-grade gliomas after temozolomide treatment. Acta Neuropathol (2015) 0.90
Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach. J Biomed Sci (2009) 0.90
Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays. Hered Cancer Clin Pract (2012) 0.89
Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome. Fam Cancer (2009) 0.87
Anticipation in lynch syndrome: where we are where we go. Curr Genomics (2011) 0.87
MutSbeta exceeds MutSalpha in dinucleotide loop repair. Br J Cancer (2010) 0.86
The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype. Eur J Hum Genet (2013) 0.85
Molecular signaling mechanisms of apoptosis in hereditary non-polyposis colorectal cancer. World J Gastrointest Pathophysiol (2012) 0.84
A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome. Hered Cancer Clin Pract (2010) 0.83
Genetic variants in the cell cycle control pathways contribute to early onset colorectal cancer in Lynch syndrome. Cancer Causes Control (2009) 0.83
Cooperative nuclear localization sequences lend a novel role to the N-terminal region of MSH6. PLoS One (2011) 0.83
Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity. Mol Carcinog (2013) 0.82
Novel DNA variants and mutation frequencies of hMLH1 and hMSH2 genes in colorectal cancer in the Northeast China population. PLoS One (2013) 0.82
Mismatch repair defects and Lynch syndrome: The role of the basic scientist in the battle against cancer. DNA Repair (Amst) (2015) 0.82
Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients. Fam Cancer (2009) 0.82
The ATPase activity of MLH1 is required to orchestrate DNA double-strand breaks and end processing during class switch recombination. J Exp Med (2012) 0.81
Role of mismatch repair proteins in the processing of cisplatin interstrand cross-links. DNA Repair (Amst) (2015) 0.80
The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors. J Mol Diagn (2012) 0.79
C-terminal fluorescent labeling impairs functionality of DNA mismatch repair proteins. PLoS One (2012) 0.79
Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations. Front Horm Res (2010) 0.79
A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression. J Mol Diagn (2010) 0.79
Inherited colorectal cancer syndromes. Clin Colon Rectal Surg (2009) 0.79
An American founder mutation in MLH1. Int J Cancer (2011) 0.79
The role of epigenetics in Lynch syndrome. Fam Cancer (2013) 0.79
Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation. Fam Cancer (2011) 0.78
Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast. BMC Cancer (2009) 0.78
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. Fam Cancer (2011) 0.78
Non-truncating hMLH1 variants identified in Slovenian gastric cancer patients are not associated with Lynch Syndrome: a functional analysis report. Fam Cancer (2011) 0.77
Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients. Hum Mutat (2012) 0.76
Lynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression. Hum Mutat (2015) 0.76
A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns. Fam Cancer (2014) 0.76
MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome. Front Oncol (2016) 0.75
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med (2016) 0.75
Making sense of missense in Lynch syndrome: the clinical perspective. Cancer Prev Res (Phila) (2010) 0.75
Aberrant splicing caused by a MLH1 splice donor site mutation found in a young Japanese patient with Lynch syndrome. Fam Cancer (2012) 0.75
Predicting phenotype from genotype: Improving accuracy through more robust experimental and computational modeling. Hum Mutat (2017) 0.75
Sub-cellular localization analysis of MSH6 missense mutations does not reveal an overt MSH6 nuclear transport impairment. Fam Cancer (2012) 0.75
Lynch Syndrome in high risk Ashkenazi Jews in Israel. Fam Cancer (2014) 0.75
Lynch syndrome: form, function, proteins, and basketball. Gastroenterology (2005) 2.57
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst (2004) 14.97
PD-1 Blockade in Tumors with Mismatch-Repair Deficiency. N Engl J Med (2015) 13.08
Hereditary colorectal cancer. N Engl J Med (2003) 11.86
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med (2005) 9.39
The role of microRNA genes in papillary thyroid carcinoma. Proc Natl Acad Sci U S A (2005) 8.60
Celecoxib for the prevention of sporadic colorectal adenomas. N Engl J Med (2006) 7.62
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
Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol (2008) 5.47
Common SNP in pre-miR-146a decreases mature miR expression and predisposes to papillary thyroid carcinoma. Proc Natl Acad Sci U S A (2008) 5.29
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
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res (2006) 4.26
Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. N Engl J Med (2008) 3.76
Prognostically relevant gene signatures of high-grade serous ovarian carcinoma. J Clin Invest (2012) 3.64
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA (2007) 3.62
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet (2009) 3.58
Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia. Cell (2007) 3.58
Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations. Nat Genet (2009) 3.46
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet (2008) 3.41
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology (2008) 3.35
Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer. Science (2008) 3.16
The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet Med (2010) 2.81
Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology (2005) 2.80
Identification of Lynch syndrome among patients with colorectal cancer. JAMA (2012) 2.77
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst (2007) 2.77
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71
Reprogramming of miRNA networks in cancer and leukemia. Genome Res (2010) 2.65
Risks of less common cancers in proven mutation carriers with lynch syndrome. J Clin Oncol (2012) 2.59
Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst (2009) 2.56
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science (2011) 2.47
Five-year efficacy and safety analysis of the Adenoma Prevention with Celecoxib Trial. Cancer Prev Res (Phila) (2009) 2.46
Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw (2010) 2.45
Overexpression of the ETS-related gene, ERG, predicts a worse outcome in acute myeloid leukemia with normal karyotype: a Cancer and Leukemia Group B study. J Clin Oncol (2005) 2.41
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
Long-range PCR facilitates the identification of PMS2-specific mutations. Hum Mutat (2006) 2.39
The MUC1 and galectin-3 oncoproteins function in a microRNA-dependent regulatory loop. Mol Cell (2007) 2.35
Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping. PLoS Genet (2011) 2.24
BAALC expression predicts clinical outcome of de novo acute myeloid leukemia patients with normal cytogenetics: a Cancer and Leukemia Group B Study. Blood (2003) 2.23
Pathogenesis of DNA repair-deficient cancers: a statistical meta-analysis of putative Real Common Target genes. Oncogene (2003) 2.21
Polymorphic mature microRNAs from passenger strand of pre-miR-146a contribute to thyroid cancer. Proc Natl Acad Sci U S A (2009) 2.20
Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR). Hum Mutat (2007) 2.16
PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancers. Am J Pathol (2002) 2.16
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat Genet (2012) 2.15
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2009) 2.13
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat (2005) 2.09
A mutation in hairless dogs implicates FOXI3 in ectodermal development. Science (2008) 2.06
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev (2011) 1.99
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol (2010) 1.98
Role of cancer-associated stromal fibroblasts in metastatic colon cancer to the liver and their expression profiles. Oncogene (2004) 1.97
Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet (2003) 1.94
Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome? J Clin Oncol (2005) 1.93
The polymorphism rs944289 predisposes to papillary thyroid carcinoma through a large intergenic noncoding RNA gene of tumor suppressor type. Proc Natl Acad Sci U S A (2012) 1.92
Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members. J Clin Oncol (2009) 1.92
The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. Blood (2003) 1.91
Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer. J Clin Oncol (2014) 1.91
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res (2010) 1.90
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet (2013) 1.88
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet (2004) 1.88
Cancer risks for relatives of patients with serrated polyposis. Am J Gastroenterol (2012) 1.88
Stathmin 1, a marker of PI3K pathway activation and regulator of microtubule dynamics, is expressed in early pelvic serous carcinomas. Gynecol Oncol (2011) 1.87
SNPs in ultraconserved elements and familial breast cancer risk. Carcinogenesis (2008) 1.84
Gene expression and functional evidence of epithelial-to-mesenchymal transition in papillary thyroid carcinoma invasion. Proc Natl Acad Sci U S A (2007) 1.84
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet (2003) 1.83
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
Discovery of common variants associated with low TSH levels and thyroid cancer risk. Nat Genet (2012) 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
A susceptibility locus for papillary thyroid carcinoma on chromosome 8q24. Cancer Res (2009) 1.77
miR-3151 interplays with its host gene BAALC and independently affects outcome of patients with cytogenetically normal acute myeloid leukemia. Blood (2012) 1.77
Immunohistochemistry staining for the mismatch repair proteins in the clinical care of patients with colorectal cancer. Genet Med (2009) 1.76
Acute myeloid leukemia with complex karyotypes and abnormal chromosome 21: Amplification discloses overexpression of APP, ETS2, and ERG genes. Proc Natl Acad Sci U S A (2004) 1.75
AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study. Cancer Epidemiol Biomarkers Prev (2007) 1.75
Epigenetic silencing of novel tumor suppressors in malignant melanoma. Cancer Res (2006) 1.73
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. Nat Genet (2003) 1.71
Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium. J Clin Oncol (2006) 1.70
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. J Genet Couns (2004) 1.69
Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH. Gastroenterology (2006) 1.66
The search for unaffected individuals with Lynch syndrome: do the ends justify the means? Cancer Prev Res (Phila) (2011) 1.66
Clinical relevance of microsatellite instability in colorectal cancer. J Clin Oncol (2010) 1.62