A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes.
about
Economic regulation of next-generation sequencingDistributing the future: The weak justifications for keeping human genomic databases secret and the challenges and opportunities in reverse engineering themClinical Challenges Associated with Universal Screening for Lynch Syndrome-Associated Endometrial Cancer.Actionable exomic incidental findings in 6503 participants: challenges of variant classificationSharing Data to Build a Medical Information Commons: From Bermuda to the Global Alliance.Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patientsCurrent condition of genetic medicine for hereditary breast cancer.A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databasesCharacterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control studyA Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.Increased yield of actionable mutations using multi-gene panels to assess hereditary cancer susceptibility in an ethnically diverse clinical cohortVariants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer.Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.Health Care Segregation, Physician Recommendation, and Racial Disparities in BRCA1/2 Testing Among Women With Breast CancerFamily Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool.Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genesHigh-Definition Medicine.A comparison of cosegregation analysis methods for the clinical setting.Power of pedigree likelihood analysis in extended pedigrees to classify rare variants of uncertain significance in cancer risk genes.Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.PERCH: A Unified Framework for Disease Gene Prioritization.A classification system for clinical relevance of somatic variants identified in molecular profiling of cancer.Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes.Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial.Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk.Tumor BRCA1 Reversion Mutation Arising during Neoadjuvant Platinum-Based Chemotherapy in Triple-Negative Breast Cancer Is Associated with Therapy Resistance.Genetic testing in women with breast cancer: implications for treatment.Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer.Inherited Cancer in the Age of Next-Generation Sequencing.The Changing Landscape of Lynch Syndrome due to PMS2 Mutations.Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.Patient communication of cancer genetic test results in a diverse population.Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.
P2860
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P2860
A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh-hant
name
A comprehensive laboratory-bas ...... ce in hereditary cancer genes.
@en
A comprehensive laboratory-bas ...... ce in hereditary cancer genes.
@nl
type
label
A comprehensive laboratory-bas ...... ce in hereditary cancer genes.
@en
A comprehensive laboratory-bas ...... ce in hereditary cancer genes.
@nl
prefLabel
A comprehensive laboratory-bas ...... ce in hereditary cancer genes.
@en
A comprehensive laboratory-bas ...... ce in hereditary cancer genes.
@nl
P2093
P356
P1433
P1476
A comprehensive laboratory-bas ...... ce in hereditary cancer genes.
@en
P2093
E Rosenthal
J M Eggington
K R Bowles
P304
P356
10.1111/CGE.12315
P577
2013-12-20T00:00:00Z