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Panel Testing

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Hereditary Breast and Ovarian Cancer

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Abstract

In order to provide optimal treatment options for each patient, genetic panel tests with genomic profiling, which can detect diverse genetic abnormalities found in tumors and provide medical interpretation, have been implemented in routine clinical practice. For standard treatment-resistant solid tumors, two panel tests were authorized in Japan. Although the primary outcome of these panel tests is to find a way for possible treatment options, in some cases secondary findings for germline mutation could be suggested or pointed out, in which percentage has been reported in range from 3.3 to 10.7%. In clinical practice, it is essential to refer cases that are considered to require genetic counseling based on the results of the expert panel to genetic specialists and genetic counselors as appropriate.

There are no insured genetic multigene panel tests for germline mutations yet in Japan. However, tests for germline mutations including less common syndromes will be used more frequently in clinical practice for cases of potential hereditary diseases. Alongside the process of developing management for BRCA1/2 pathogenic variant, the most frequent gene mutation associated with breast and ovarian cancer, the development of high-quality guidelines for comprehensive germline mutations is warranted in the near future.

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Authors and Affiliations

  1. Division of Breast and Endocrine Surgery, Department of Surgery, St. Marianna University School of Medicine, Kawasaki, Japan

    Yasuyuki Kojima

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  1. Yasuyuki Kojima
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Correspondence to Yasuyuki Kojima .

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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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Kojima, Y. (2021). Panel 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_13

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  • DOI: https://doi.org/10.1007/978-981-16-4521-1_13

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  • Publisher Name: Springer, Singapore

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  • Online ISBN: 978-981-16-4521-1

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