Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?
about
New challenges for BRCA testing: a view from the diagnostic laboratorySharing Data to Build a Medical Information Commons: From Bermuda to the Global Alliance.Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)Incidental findings of uncertain significance: To know or not to know--that is not the question.Communicating BRCA research results to patients enrolled in international clinical trials: lessons learnt from the AGO-OVAR 16 study.Genomic newborn screening: public health policy considerations and recommendations.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 patientsA Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.Exome Sequencing in a Family with Luminal-Type Breast Cancer Underpinned by Variation in the Methylation Pathway.Epidemiology of Patients with Ovarian Cancer with and Without a BRCA1/2 Mutation.A Framework for Unrestricted Prenatal Whole-Genome Sequencing: Respecting and Enhancing the Autonomy of Prospective Parents.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.Precision reproductive medicine: multigene panel testing for infertility risk assessment.Medullary Thyroid Carcinoma Associated with Germline RETK666N Mutation.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.Impact of germline and somatic BRCA1/2 mutations: tumor spectrum and detection platforms.Methods for Scarless, Selection-Free Generation of Human Cells and Allele-Specific Functional Analysis of Disease-Associated SNPs and Variants of Uncertain Significance.Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events.Disclosure of Cardiac Variants of Uncertain Significance Results in an Exome Cohort.Variants of Unknown Significance and Their Impact on Autonomy.Characterization of a novel germline BRCA1 splice variant, c.5332+4delA.Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.Integrative omics for health and disease."Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing.TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome.Multiplexed assays of variant effects contribute to a growing genotype-phenotype atlas
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P2860
Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?
description
2014 nî lūn-bûn
@nan
2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Variants of uncertain signific ...... cal and policy issues to come?
@ast
Variants of uncertain signific ...... cal and policy issues to come?
@en
type
label
Variants of uncertain signific ...... cal and policy issues to come?
@ast
Variants of uncertain signific ...... cal and policy issues to come?
@en
prefLabel
Variants of uncertain signific ...... cal and policy issues to come?
@ast
Variants of uncertain signific ...... cal and policy issues to come?
@en
P2860
P1433
P1476
Variants of uncertain signific ...... cal and policy issues to come?
@en
P2093
Jae Yeon Cheon
P2860
P2888
P356
10.1186/S13073-014-0121-3
P577
2014-12-19T00:00:00Z
P5875
P6179
1007475777