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Breast Cancer Genetics

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Breast Cancer

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Abstract

The clustering of breast cancer in families has been recognized for centuries. The modern era of breast cancer genetics began with the mapping of the BRCA1 gene and the identification of TP53 as the gene underlying Li–Fraumeni syndrome, both in 1990. In the modern era, next-generation sequencing technologies have been widely adopted, providing less expensive more comprehensive analysis of multiple genes concurrently in individuals at increased risk based on family history. The field is working hard to rapidly gather data on the breast and other cancer risks associated with the so-called moderate-penetrance susceptibility genes and to enhance the data on management of BRCA1, BRCA2, and other high-penetrance genes. The identification of women who carry pathogenic mutations in breast cancer predisposition genes has enabled more precise targeting of intensified surveillance and targeted risk-reduction strategies—medical and surgical—to the members of families who share the mutation and are truly high risk, rather than exposing those who share the family history but not the mutation, so do not share the risk. The progress has come with many new questions about how best to use these powerful technologies, work that remains ongoing.

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Abbreviations

Endo BX:

Endometrial biopsy

HBOC:

Hereditary breast and ovarian cancer

HDGC:

Hereditary diffuse gastric cancer

MMG:

Mammography

MRI:

Magnetic resonance imaging

RRSO:

Risk-reducing salpingo-oophorectomy

TVUS:

Transvaginal ultrasound

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Authors and Affiliations

  1. Instituto do Cancer do Estado de Sao Paulo (ICESP), Sao Paolo, Brazil

    Ana Carolina Ribeiro Chaves de Gouvea

  2. Dana Farber Cancer Institute, Boston, MA, USA

    Judy E. Garber

Authors
  1. Ana Carolina Ribeiro Chaves de Gouvea
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  2. Judy E. Garber
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Correspondence to Judy E. Garber .

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Editors and Affiliations

  1. European Institutee of Oncology, Milan, Italy

    Umberto Veronesi

  2. European Institute of Oncology, Milan, Italy

    Aron Goldhirsch

  3. European Institute of Oncology, Milan, Italy

    Paolo Veronesi

  4. San Raffaele University and Research Hospital, Milano, Italy

    Oreste Davide Gentilini

  5. European Institute of Oncology, Milan, Italy

    Maria Cristina Leonardi

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de Gouvea, A.C.R.C., Garber, J.E. (2017). Breast Cancer Genetics. In: Veronesi, U., Goldhirsch, A., Veronesi, P., Gentilini, O., Leonardi, M. (eds) Breast Cancer. Springer, Cham. https://doi.org/10.1007/978-3-319-48848-6_8

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  • DOI: https://doi.org/10.1007/978-3-319-48848-6_8

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