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Breast Cancer Essentials pp 19–31Cite as

Breast Cancer Genetics

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Abstract

Breast cancer is the most commonly diagnosed cancer worldwide and the leading cause of cancer-related death in women. Approximately 10% of cases are hereditary, caused by mutations in genes responsible for cell growth and survival and DNA maintenance. Hereditary cancer predisposition is characterized by earlier age at onset, clustering in families, and association with various tumor types. Identifying patients with a genetic predisposition to cancer is important for the patient and their relatives, both affected and unaffected. Knowing the risk of developing cancer can help in clinical management both in terms of prevention and treatment. A number of genes have been identified which when mutated increase a carrier’s risk of developing breast and other cancers. Next-generation sequencing (NGS) allows for simultaneous analysis of all genes implicated in hereditary predisposition to breast cancer. In most cases, enough research has allowed the compilation of clinical management guidelines by large international working groups in order to individualize preventive and therapeutic management of at-risk individuals.

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Authors and Affiliations

  1. Genekor Medical SA, Athens, Greece

    Angela Apessos & Georgios Nasioulas

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  1. Angela Apessos
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  2. Georgios Nasioulas
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Correspondence to Georgios Nasioulas .

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Editors and Affiliations

  1. European Academia of Senology, Düsseldorf, Germany

    Mahdi Rezai

  2. Dokuz Eylül University, Izmir, Turkey

    Mehmet Ali Kocdor

  3. University of Kocaeli, İzmit/Kocaeli, Turkey

    Nuh Zafer Canturk

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Apessos, A., Nasioulas, G. (2021). Breast Cancer Genetics. In: Rezai, M., Kocdor, M.A., Canturk, N.Z. (eds) Breast Cancer Essentials. Springer, Cham. https://doi.org/10.1007/978-3-030-73147-2_3

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  • DOI: https://doi.org/10.1007/978-3-030-73147-2_3

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