Lucia Guidugli

Inherited Mutations in 17 Breast Cancer Susceptibility Genes Among a Large Triple-Negative Breast Cancer Cohort Unselected for Family History of Breast Cancer

Fergus J. Couch, Steven N. Hart, Priyanka Sharma et al. · Journal of Clinical Oncology · 2014 · 684 citations · Full text

Life Sciences, Genetics, Oncology +17

Association of Type and Location of<i>BRCA1</i>and<i>BRCA2</i>Mutations With Risk of Breast and Ovarian Cancer

Timothy R. Rebbeck, Nandita Mitra, Fei Wan et al. · JAMA · 2015 · 509 citations · Full text

Medicine, Genetics, Oncology +17

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population

Antonis C. Antoniou, Xianshu Wang, Zachary S. Fredericksen et al. · Nature Genetics · 2010 · 342 citations · Full text

Medicine, Genetics, Oncology +17

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Francisco M. De La Vega, Shimul Chowdhury, Barry Moore et al. · Genome Medicine · 2021 · 152 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer

Kara N. Maxwell, Steven N. Hart, Joseph Vijai et al. · The American Journal of Human Genetics · 2016 · 132 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17