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。Functional characterization of BRCA1 gene variants by mini-gene splicing assay
Ane Y. Steffensen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium
Mara Colombo et al.
HUMAN MOLECULAR GENETICS (2014)
Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines
Logan C. Walker et al.
HUMAN MUTATION (2013)
Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE
Nasim Mavaddat et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2013)
Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations
Mara Colombo et al.
PLOS ONE (2013)
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members
Mads Thomassen et al.
BREAST CANCER RESEARCH AND TREATMENT (2012)
ENIGMA-Evidence-Based Network for the Interpretation of Germline Mutant Alleles: An International Initiative to Evaluate Risk and Clinical Significance Associated with Sequence Variation in BRCA1 and BRCA2 Genes
Amanda B. Spurdle et al.
HUMAN MUTATION (2012)
Guidelines for Splicing Analysis in Molecular Diagnosis Derived from a Set of 327 Combined In Silico/In Vitro Studies on BRCA1 and BRCA2 Variants
Claude Houdayer et al.
HUMAN MUTATION (2012)
Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer
Wen-Hong Kuo et al.
JOURNAL OF HUMAN GENETICS (2012)
Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction
Barbara Wappenschmidt et al.
PLOS ONE (2012)
Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes
Jean Christophe Thery et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age
Dorina M. van der Kolk et al.
BREAST CANCER RESEARCH AND TREATMENT (2010)
Comprehensive Analysis of Missense Variations in the BRCT Domain of BRCA1 by Structural and Functional Assays
Megan S. Lee et al.
CANCER RESEARCH (2010)
A High Proportion of DNA Variants of BRCA1 and BRCA2 Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients
David J. Sanz et al.
CLINICAL CANCER RESEARCH (2010)
Toward Classification of BRCA1 Missense Variants Using a Biophysical Approach
Pamela J. E. Rowling et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Missed threads The impact of pre-mRNA splicing defects on clinical practice
Diana Baralle et al.
EMBO REPORTS (2009)
Prediction and Assessment of Splicing Alterations: Implications for Clinical Testing
Amanda B. Spurdle et al.
HUMAN MUTATION (2008)
Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene
C. Bonnet et al.
JOURNAL OF MEDICAL GENETICS (2008)
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
Douglas F. Easton et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Functional impact of missense variants in BRCA1 predicted by supervised learning
Rachel Karchin et al.
PLOS COMPUTATIONAL BIOLOGY (2007)
Cancer-related mutations in BRCA1-BRCT cause long-range structural changes in protein-protein binding sites: A molecular dynamics study
Craig A. Gough et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2007)
Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance
G Chenevix-Trench et al.
CANCER RESEARCH (2006)
Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants
PK Lovelock et al.
JOURNAL OF MEDICAL GENETICS (2006)
Integrated evaluation of DNA sequence variants of unknown clinical significance:: Application to BRCA1 and BRCA2
DE Goldgar et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation
V Abkevich et al.
JOURNAL OF MEDICAL GENETICS (2004)
Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1
RS Williams et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2004)
Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
MC King et al.
SCIENCE (2003)
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history:: A combined analysis of 22 studies
A Antoniou et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2:: Analysis of 10,000 individuals
TS Frank et al.
JOURNAL OF CLINICAL ONCOLOGY (2002)
Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: Structure-based assessment of amino acid variation
D Chasman et al.
JOURNAL OF MOLECULAR BIOLOGY (2001)
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families
J Vallon-Christersson et al.
HUMAN MOLECULAR GENETICS (2001)
分享论文
