Published in Hum Mutat on June 01, 2008
Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed. Hum Mutat (2011) 3.75
In silico analysis of missense substitutions using sequence-alignment based methods. Hum Mutat (2008) 2.73
Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Hum Mutat (2008) 2.55
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn (2012) 1.99
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. Hum Mutat (2012) 1.61
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes. Hum Mutat (2008) 1.44
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. Hum Mutat (2011) 1.44
Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Hum Mutat (2009) 1.35
Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance. Hum Mutat (2008) 1.35
Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site. Nat Struct Mol Biol (2013) 1.04
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. Hum Mutat (2010) 1.02
Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families. Mutat Res (2009) 1.00
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
Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome. Fam Cancer (2012) 0.90
Deriving a mutation index of carcinogenicity using protein structure and protein interfaces. PLoS One (2014) 0.89
Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays. Hered Cancer Clin Pract (2012) 0.89
Anticipation in lynch syndrome: where we are where we go. Curr Genomics (2011) 0.87
Microsatellite instability in the peripheral blood leukocytes of HNPCC patients. Hum Mutat (2010) 0.86
Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis. Hum Mutat (2012) 0.85
Cataloging coding sequence variations in human genome databases. PLoS One (2008) 0.85
A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome. Hered Cancer Clin Pract (2010) 0.83
Mutation spectrum in South American Lynch syndrome families. Hered Cancer Clin Pract (2013) 0.83
Novel DNA variants and mutation frequencies of hMLH1 and hMSH2 genes in colorectal cancer in the Northeast China population. PLoS One (2013) 0.82
Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients. Fam Cancer (2009) 0.82
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. Eur J Hum Genet (2012) 0.81
Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. Proc Natl Acad Sci U S A (2016) 0.81
Genetic testing strategies in newly diagnosed endometrial cancer patients aimed at reducing morbidity or mortality from lynch syndrome in the index case or her relatives. PLoS Curr (2013) 0.80
Genetic testing for hereditary colorectal cancer. Surg Oncol Clin N Am (2009) 0.79
The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors. J Mol Diagn (2012) 0.79
Pancreatic cancer and a novel MSH2 germline alteration. Pancreas (2011) 0.78
Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome. Proc Natl Acad Sci U S A (2013) 0.78
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations. BMC Med Genet (2015) 0.78
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. Fam Cancer (2011) 0.78
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. PLoS One (2013) 0.77
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
The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals. PLoS One (2014) 0.77
Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families. BMC Cancer (2010) 0.77
Multiple factors insulate Msh2-Msh6 mismatch repair activity from defects in Msh2 domain I. J Mol Biol (2011) 0.77
Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients. PLoS One (2013) 0.76
Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients. Hum Mutat (2012) 0.76
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
Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein. Mol Genet Genomic Med (2014) 0.75
Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes. J Community Genet (2017) 0.75
First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome. Fam Cancer (2017) 0.75
Body-mass index and mortality among 1.46 million white adults. N Engl J Med (2010) 13.34
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
Statins and the risk of colorectal cancer. N Engl J Med (2005) 6.86
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet (2008) 6.75
Personalized oncology through integrative high-throughput sequencing: a pilot study. Sci Transl Med (2011) 5.82
Association between endometriosis and risk of histological subtypes of ovarian cancer: a pooled analysis of case-control studies. Lancet Oncol (2012) 5.70
Incidence of initial local therapy among men with lower-risk prostate cancer in the United States. J Natl Cancer Inst (2006) 5.42
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
Network modeling links breast cancer susceptibility and centrosome dysfunction. Nat Genet (2007) 4.69
Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies. J Natl Cancer Inst (2010) 4.54
The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer. Breast Cancer Res (2004) 4.54
Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet (2010) 4.51
BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol (2002) 4.38
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet (2009) 4.38
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA (2006) 4.34
Statins and cancer prevention. Nat Rev Cancer (2005) 4.12
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA (2005) 3.99
A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet (2010) 3.86
High breast cancer incidence rates among California teachers: results from the California Teachers Study (United States). Cancer Causes Control (2002) 3.81
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet (2013) 3.81
Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res (2006) 3.81
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet (2007) 3.63
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA (2007) 3.62
Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia. Cell (2007) 3.58
Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol (2008) 3.54
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat Genet (2013) 3.42
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet (2008) 3.41
Small changes in expression affect predisposition to tumorigenesis. Nat Genet (2001) 3.37
Variation of breast cancer risk among BRCA1/2 carriers. JAMA (2008) 3.30
Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2002) 3.25
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
Clinically relevant changes in family history of cancer over time. JAMA (2011) 3.18
Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium. J Natl Cancer Inst (2010) 3.18
Improved oxygen systems for childhood pneumonia: a multihospital effectiveness study in Papua New Guinea. Lancet (2008) 3.06
Plasminogen is a critical host pathogenicity factor for group A streptococcal infection. Science (2004) 2.91
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst (2009) 2.88
Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population. Cancer Prev Res (Phila) (2010) 2.86
Validation of family history data in cancer family registries. Am J Prev Med (2003) 2.80
Hormone therapy and the risk of breast cancer in BRCA1 mutation carriers. J Natl Cancer Inst (2008) 2.78
Natural history of stage I non-small cell lung cancer: implications for early detection. Chest (2007) 2.78
Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology (2009) 2.75
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet (2011) 2.72
A microRNA miR-34a-regulated bimodal switch targets Notch in colon cancer stem cells. Cell Stem Cell (2013) 2.68
Three-dimensional reconstruction of protein networks provides insight into human genetic disease. Nat Biotechnol (2012) 2.67
Active smoking, household passive smoking, and breast cancer: evidence from the California Teachers Study. J Natl Cancer Inst (2004) 2.62
Anti-oncogenic role of the endoplasmic reticulum differentially activated by mutations in the MAPK pathway. Nat Cell Biol (2006) 2.58
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. Gastroenterology (2012) 2.57
Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw (2010) 2.45
Microsatellite instability in colorectal cancer-the stable evidence. Nat Rev Clin Oncol (2010) 2.43
Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer (2006) 2.41
Aspirin, nonaspirin nonsteroidal anti-inflammatory drug, and acetaminophen use and risk of invasive epithelial ovarian cancer: a pooled analysis in the Ovarian Cancer Association Consortium. J Natl Cancer Inst (2014) 2.40
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
Adherence to treatment guidelines for ovarian cancer as a measure of quality care. Obstet Gynecol (2013) 2.39
Pretreatment health behaviors predict survival among patients with head and neck squamous cell carcinoma. J Clin Oncol (2009) 2.38
Meta-analysis of new genome-wide association studies of colorectal cancer risk. Hum Genet (2011) 2.35
A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer (2006) 2.35
Risk of pancreatic cancer in families with Lynch syndrome. JAMA (2009) 2.32
Genetic variation in 8q24 associated with risk of colorectal cancer. Cancer Biol Ther (2007) 2.32
A novel founder mutation in the RNASEL gene, 471delAAAG, is associated with prostate cancer in Ashkenazi Jews. Am J Hum Genet (2002) 2.24
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet (2013) 2.24
Quality of life in long-term cervical cancer survivors. Gynecol Oncol (2005) 2.22
Distinguishing right from left colon by the pattern of gene expression. Cancer Epidemiol Biomarkers Prev (2003) 2.22
Prospective study of breast cancer incidence in women with a BRCA1 or BRCA2 mutation under surveillance with and without magnetic resonance imaging. J Clin Oncol (2011) 2.17
Whole-genome genotyping. Methods Enzymol (2006) 2.16
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2009) 2.13
International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers. Int J Cancer (2008) 2.13
NCCN clinical practice guidelines in oncology. Colorectal cancer screening. J Natl Compr Canc Netw (2010) 2.13
Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst (2005) 2.10
The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing. Clin Cancer Res (2011) 2.09
Vitamin D status in primary hyperparathyroidism. Eur J Intern Med (2011) 2.05
Regional variations in breast cancer among california teachers. Epidemiology (2004) 2.04
Tests for gene-environment interaction from case-control data: a novel study of type I error, power and designs. Genet Epidemiol (2008) 2.04
BLM heterozygosity and the risk of colorectal cancer. Science (2002) 2.03
Clinical phenotype of families with longevity. J Am Geriatr Soc (2004) 2.03
Study design: evaluating gene-environment interactions in the etiology of breast cancer - the WECARE study. Breast Cancer Res (2004) 2.03
Type I and II endometrial cancers: have they different risk factors? J Clin Oncol (2013) 2.01
Association between insurance and socioeconomic status and risk of advanced stage Hodgkin lymphoma in adolescents and young adults. Cancer (2012) 1.99
Phenotype of microsatellite unstable colorectal carcinomas: Well-differentiated and focally mucinous tumors and the absence of dirty necrosis correlate with microsatellite instability. Am J Surg Pathol (2003) 1.97
Familial myeloma. N Engl J Med (2008) 1.96
Comparison of seven methods for producing Affymetrix expression scores based on False Discovery Rates in disease profiling data. BMC Bioinformatics (2005) 1.96
Validity of models for predicting BRCA1 and BRCA2 mutations. Ann Intern Med (2007) 1.94
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet (2003) 1.93
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