Inflammatory Breast Cancer: Clinical Implications of Genomic Alterations and Mutational Profiling
International Research Center, A.C.Camargo Cancer Center, São Paulo 01508-010, Brazil
Department of Clinical Genetics, University Hospital of Southern Denmark, 7100 Vejle, Denmark
Department of Genetics and Morphology, Institute of Biological Sciences, University of Brasília-UnB, Brasília 70910-900, Brazil
Department of Veterinary Surgery and Anesthesiology, School of Veterinary Medicine and Animal Science, São Paulo State University-UNESP, Botucatu 18618-681, Brazil
Department of Structural and Functional Biology, Institute of Biosciences, São Paulo State University-UNESP, Botucatu 18618-689, Brazil
Department of Mathematics and Computer Science, University of Southern Denmark, 5230 Odense, Denmark
Department of Breast and Gynecologic Oncology, Barretos Cancer Hospital, Pio XII Foundation, Barretos 14784-390, Brazil
Molecular Oncology Research Center, Barretos SP 14784-400, Brazil
Diagnósticos da América (DASA), Barueri 01525-001, Brazil
Department of Pathology, A.C.Camargo Cancer Center, São Paulo 01525-001, Brazil
TUM School of Life Sciences Weihenstephan, Technical University of Munich, 85354 Freising, Germany
Institute of Regional Health Research, University of Southern Denmark, 500 Odense, Denmark
Author to whom correspondence should be addressed.
F.L.C.F. and R.A.R.V. contributed equally to this work.
Received: 28 August 2020 / Revised: 28 September 2020 / Accepted: 29 September 2020 / Published: 30 September 2020
Inflammatory breast cancer (IBC) is an aggressive disease with high mortality rates. Nowadays, there is no targeted treatment for this tumor type. Based on this context, we investigated the molecular profile of this disease by using well-established methodologies (high-resolution microarray platform, targeted next-generation sequencing, and immunohistochemistry) that have proven potential to unveil cancer biomarkers. We found alterations related to IBC aggressiveness and metastasis (gains of MDM4, losses of CHL1, and high homologous recombination deficiency scores), and worse overall survival (variants in HR and mismatch repair genes). We also compared the mutational profiling of our cases with literature data, which includes both non-IBC and IBC cases, validating our findings. Overall, we describe genetic alterations with the potential to be used as prognostic or predictive biomarkers and ultimately improve IBC patients’ care.