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Genetic Testing

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Hereditary Breast and Ovarian Cancer

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Abstract

Genetic testing for HBOC can be a life-determining event for clients. Therefore, it is very important when, to whom, and by which method the genetic testing is performed. Genetic testing has a variety of purposes, including HBOC diagnosis, companion diagnosis, relative diagnosis, carrier diagnosis, and confirmation of secondary findings. Who is the best test candidate depends on the purpose of the test. Various sizes of BRCA1/BRCA2 variants have been reported, from single nucleotide substitutions and small indels to large-sized structural abnormalities. The locus of variants is distributed not only in exons but also in splice sites and deep introns. There are various tests depending on the variant size, from the specific variant detection by Sanger sequencing to multi-gene panel using next-generation sequencing, and there are also several companion diagnostics to determine the indications for molecular targeted drugs. It also introduces the accuracy control required for clinical diagnosis and the limitations of interpretation of results. After reading this chapter, you will be able to choose the genetic testing that best suits your purpose.

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Author information

Authors and Affiliations

  1. Division of Genetic Diagnostics, Chiba Cancer Center, Chiba, Japan

    Sana Yokoi

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  1. Sana Yokoi
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Correspondence to Sana Yokoi .

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Editors and Affiliations

  1. Department of Breast Surgical Oncology, Showa University, School of Medicine, Tokyo, Japan

    Seigo Nakamura

  2. Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan

    Daisuke Aoki

  3. Department of Molecular Genetics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan

    Yoshio Miki

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Yokoi, S. (2021). Genetic Testing. In: Nakamura, S., Aoki, D., Miki, Y. (eds) Hereditary Breast and Ovarian Cancer . Springer, Singapore. https://doi.org/10.1007/978-981-16-4521-1_3

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  • DOI: https://doi.org/10.1007/978-981-16-4521-1_3

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