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Pathology and Somatic Alterations in Hereditary Lobular Breast Cancers

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Hereditary Gastric and Breast Cancer Syndrome

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Abstract

The most frequent special histological type of breast cancer is represented by invasive lobular carcinoma (ILC), which makes up about 15% of all invasive breast carcinomas. The molecular signature of ILC is the dysregulation of E-cadherin due to CDH1 abnormalities. Although CDH1 germline mutations are very uncommon in women with early-onset and/or familial ILC, they are the most common detrimental non-BRCA mutations and are thought to be the origin of a significant fraction of lobular breast cancer. Since the morphology and immunophenotype of hereditary and non-hereditary ILCs are nearly identical, no specific histopathological findings can be used to distinguish between the two. High-throughput sequencing studies revealed that ILCs represent a separate entity at the genomic level. This chapter addresses the very important topic of ILC morpho-molecular characteristics in the setting of germline and/or somatic CDH1 abnormalities.

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Authors and Affiliations

  1. Division of Pathology, IEO, European Institute of Oncology IRCCS, Milan, Italy

    Francesca Maria Porta, Marta Cruz Blanco, Mariia Ivanova, Nicola Fusco & Elena Guerini-Rocco

  2. Department of Oncology and Haemato-Oncology, University of Milan, Milan, Italy

    Francesca Maria Porta, Nicola Fusco & Elena Guerini-Rocco

Authors
  1. Francesca Maria Porta
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  2. Marta Cruz Blanco
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  3. Mariia Ivanova
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  4. Nicola Fusco
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  5. Elena Guerini-Rocco
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Correspondence to Elena Guerini-Rocco .

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Editors and Affiliations

  1. European Institute of Oncology, University of Milan, Milan, Italy

    Giovanni Corso

  2. European Institute of Oncology, University of Milan, Milan, Italy

    Paolo Veronesi

  3. University of Siena, Siena, Italy

    Franco Roviello

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Porta, F.M., Blanco, M.C., Ivanova, M., Fusco, N., Guerini-Rocco, E. (2023). Pathology and Somatic Alterations in Hereditary Lobular Breast Cancers. In: Corso, G., Veronesi, P., Roviello, F. (eds) Hereditary Gastric and Breast Cancer Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-031-21317-5_11

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