BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.
about
New challenges for BRCA testing: a view from the diagnostic laboratoryVariants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genesCurrent condition of genetic medicine for hereditary breast cancer.Clinical tumor sequencing: an incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings.Understanding of BRCA VUS genetic results by breast cancer specialists.Understanding patient and provider perceptions and expectations of genomic medicine.A preliminary investigation of genetic counselors' information needs when receiving a variant of uncertain significance result: a mixed methods studyGenetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing.Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer.BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool.Critical research gaps and translational priorities for the successful prevention and treatment of breast cancer.Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genesWhole exome or genome sequencing: nurses need to prepare families for the possibilities.Epidemiology of Patients with Ovarian Cancer with and Without a BRCA1/2 Mutation.Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes.BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.Family-Specific Variants and the Limits of Human Genetics.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.Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.Biological and clinical evidence for somatic mutations in BRCA1 and BRCA2 as predictive markers for olaparib response in high-grade serous ovarian cancers in the maintenance setting.Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic TestingTraceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach.Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals.Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.Interdisciplinary Screening, Diagnosis, Therapy and Follow-up of Breast Cancer. Guideline of the DGGG and the DKG (S3-Level, AWMF Registry Number 032/045OL, December 2017) - Part 1 with Recommendations for the Screening, Diagnosis and Therapy of Brea
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P2860
BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
BRCA1/2 sequence variants of u ...... ons and in medical management.
@en
type
label
BRCA1/2 sequence variants of u ...... ons and in medical management.
@en
prefLabel
BRCA1/2 sequence variants of u ...... ons and in medical management.
@en
P2093
P2860
P1433
P1476
BRCA1/2 sequence variants of u ...... ons and in medical management.
@en
P2093
David E Goldgar
Noralane M Lindor
Sean V Tavtigian
Sharon E Plon
P2860
P304
P356
10.1634/THEONCOLOGIST.2012-0452
P577
2013-04-24T00:00:00Z