A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome
出版年份 2018 全文链接
标题
A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
出版商
Springer Nature
发表日期
2018-11-29
DOI
10.1038/s41436-018-0372-2
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
- (2018) Sean V Tavtigian et al. GENETICS IN MEDICINE
- TheBRCA1c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
- (2017) Setareh Moghadasi et al. JOURNAL OF MEDICAL GENETICS
- Approaches to diagnose DNA mismatch repair gene defects in cancer
- (2016) Javier Peña-Diaz et al. DNA REPAIR
- Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
- (2015) Lisa R. Susswein et al. GENETICS IN MEDICINE
- 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
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- Growing recognition of the role for rare missense substitutions in breast cancer susceptibility
- (2014) Sean V Tavtigian et al. Biomarkers in Medicine
- Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients
- (2014) Holly LaDuca et al. GENETICS IN MEDICINE
- Expression Defect Size among Unclassified MLH1 Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
- (2013) I. Hinrichsen et al. CLINICAL CANCER RESEARCH
- Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians
- (2013) Rolf H. Sijmons 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
- Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- (2013) Bryony A Thompson et al. NATURE GENETICS
- Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future
- (2012) Lene Juel Rasmussen et al. HUMAN MUTATION
- Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions
- (2012) Bryony A. Thompson et al. HUMAN MUTATION
- A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry
- (2012) Bryony A. Thompson et al. HUMAN MUTATION
- The Germline MLH1 K618A Variant and Susceptibility to Lynch Syndrome-Associated Tumors
- (2012) Fabiola Medeiros et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants
- (2011) Mark Drost et al. HUMAN MUTATION
- Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs
- (2011) Maxime P. Vallée et al. HUMAN MUTATION
- A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1
- (2009) Mark Drost et al. HUMAN MUTATION
- Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
- (2008) David E. Goldgar et al. HUMAN MUTATION
- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
- (2008) Sharon E. Plon et al. HUMAN MUTATION
- Functional analysis of HNPCC-related missense mutations in MSH2
- (2008) Anne Lützen et al. MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
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