Sandrine M. Caputo

Mutational spectrum in a worldwide study of 29,700 families with<i>BRCA1</i>or<i>BRCA2</i>mutations

Timothy R. Rebbeck, Tara M. Friebel, Eitan Friedman et al. · Human Mutation · 2018 · 298 citations · Full text

Brca1 Mutations, Genetic Testing, Genetics +17

Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

Michael T. Parsons, Emma Tudini, Hongyan Li et al. · Human Mutation · 2019 · 148 citations · Full text

Genetics, Genetic Epidemiology, Pathology +25

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

Amanda B. Spurdle, Phillip J Whiley, Bryony A. Thompson et al. · Journal of Medical Genetics · 2012 · 116 citations · Full text

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Raphaël Leman, Pascaline Gaildrat, Gérald Le Gac et al. · Nucleic Acids Research · 2018 · 107 citations · Full text

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases

Sandrine M. Caputo, Louisa Benboudjema, Olga M. Sinilnikova et al. · Nucleic Acids Research · 2011 · 95 citations · Full text

Breast Oncology, Genetics, Genetic Epidemiology +17