Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN

This publication has 38 references indexed in Scilit:

• Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer
  The American Journal of Human Genetics, 2016
• Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
  Genetics in Medicine, 2015
• ClinVar: public archive of relationships among sequence variation and human phenotype
  Nucleic Acids Research, 2013
• ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
  Genetics in Medicine, 2013
• Lifetime Cancer Risks in Individuals with GermlinePTENMutations
  Clinical Cancer Research, 2012
• Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study
  The Lancet Oncology, 2011
• Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation
  Biological Chemistry, 2010
• Survival Analysis of Cancer Risk Reduction Strategies for BRCA1/2 Mutation Carriers
  Journal of Clinical Oncology, 2010
• Understanding the function–structure and function–mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis
  Proceedings of the National Academy of Sciences, 2003
• A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer
  Nature Structural & Molecular Biology, 2001