TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling

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

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Understanding the function–structure and function–mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis

Shunsuke Kato, Shuang-Yin Han, Wen Liu et al. · Proceedings of the National Academy of Sciences · 2003 · 901 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

Keith Nykamp, Michael J. Anderson, Martin P. Powers et al. · Genetics in Medicine · 2017 · 759 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Revisiting Li-Fraumeni Syndrome From <i>TP53</i> Mutation Carriers

Gaëlle Bougeard, Mariette Renaux‐Petel, Jean‐Michel Flaman et al. · Journal of Clinical Oncology · 2015 · 753 citations

Medicine, Cancer Biology, Oncology +17

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study

Anita Villani, Ari Shore, Jonathan D. Wasserman et al. · The Lancet Oncology · 2016 · 526 citations

Life Sciences, Genetics, Molecular Genetics +12