A review of a multifactorial probability‐based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)
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Fergus J Couch | F. Couch | S. Tavtigian | Xianshu Wang | A. Monteiro | N. Lindor | D. Goldgar | L. Guidugli | David E Goldgar | Alvaro N A Monteiro | M. Vallée | Sean Tavtigian | Lucia Guidugli | Noralane M Lindor | Maxime P Vallée | Xianshu Wang | A. Monteiro
[1] F. Couch,et al. Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary , 2011, Human mutation.
[2] Fergus J Couch,et al. A Computational Method to Classify Variants of Uncertain Significance Using Functional Assay Data with Application to BRCA1 , 2011, Cancer Epidemiology, Biomarkers & Prevention.
[3] J. Glover,et al. Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. , 2010, Cancer research.
[4] A. Toland,et al. Characterization of BRCA1 ring finger variants of uncertain significance , 2010, Breast Cancer Research and Treatment.
[5] M. Tejada,et al. LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not , 2010, Familial Cancer.
[6] Suhwan Chang,et al. Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations. , 2009, The Journal of clinical investigation.
[7] Leila Mohammadi,et al. Bmc Cancer , 2022 .
[8] P. Devilee,et al. A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history , 2009, Breast Cancer Research.
[9] F. Couch,et al. Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. , 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[10] Alun Thomas,et al. Classification of rare missense substitutions, using risk surfaces, with genetic‐ and molecular‐epidemiology applications , 2008, Human mutation.
[11] A. Spurdle,et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results , 2008, Human mutation.
[12] N. de Wind,et al. Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance , 2008, Human mutation.
[13] Douglas F Easton,et al. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model , 2008, Human mutation.
[14] S. Sharan,et al. Mouse embryonic stem cell–based functional assay to evaluate mutations in BRCA2 , 2008, Nature Medicine.
[15] S. Bull,et al. Expression profiling of familial breast cancers demonstrates higher expression of FGFR2 in BRCA2-associated tumors , 2008, Breast Cancer Research and Treatment.
[16] Kiley J. Johnson,et al. Functional assays for classification of BRCA2 variants of uncertain significance. , 2008, Cancer research.
[17] Sue Healey,et al. Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators. , 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[18] H A Risch,et al. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions , 2008, British Journal of Cancer.
[19] Fergus J Couch,et al. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. , 2007, American journal of human genetics.
[20] J. Hopper,et al. Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. , 2006, Cancer research.
[21] A. Zharkikh,et al. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral , 2005, Journal of Medical Genetics.
[22] F. Couch,et al. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. , 2004, American journal of human genetics.
[23] M. J. van de Vijver,et al. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. , 2002, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.