Ana Blanco

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 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The Average Cumulative Risks of Breast and Ovarian Cancer for Carriers of Mutations in <i>BRCA1</i> and <i>BRCA2</i> Attending Genetic Counseling Units in Spain

Roger L. Milne, Ana Osório, Teresa Ramón y Cajal et al. · Clinical Cancer Research · 2008 · 94 citations · Full text

Medicine, Genetics, Oncology +17

Combined genetic and splicing analysis of BRCA1 c.[594-2A&gt;C; 641A&gt;G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Miguel de la Hoya, Omar Soukarieh, Irene López‐Perolio et al. · Human Molecular Genetics · 2016 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Mara Colombo, Marinus J. Blok, Phillip J Whiley et al. · Human Molecular Genetics · 2014 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers

Roger L. Milne, Ana Osório, Teresa Ramón y Cajal et al. · Breast Cancer Research and Treatment · 2009 · 76 citations

Medicine, Genetics, Oncology +14