Journal of Hereditary Tumors
Online ISSN : 2435-6808
Clinical Experience
Association between phenotypes and genotypes in the secondary findings of comprehensive genomic profiling
Kaho KatoSyuhei SuzukiChiho SatoKei SugawaraGoro AmanoAkiko KonnoSeiji TsutsumiTamio Suzuki
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JOURNAL OPEN ACCESS

2023 Volume 22 Issue 3 Pages 80-84

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Abstract

 Our hospital has been designated as a cancer genomic medical center, and we have been conducting a comprehensive genomic profiling test (CGP) since 2019. In our prefecture, there are two other cooperative hospitals that provide CGPs as well. The primary purpose of a CGP is to detect variants and predict responses and the scale of resistance to certain drugs. However, CGPs also detects germline variants in cancer predisposition genes that are known as “secondary findings”.

 Between November 2019 and May 2021, 245 patients underwent CGPs at the three hospitals, and nine of them were found to have a germline variant in a cancer predisposition gene. Out of these, six variants were detected in association with cancer. In addition, seven patients were found to have a family history of cancer in first-, second-, or third-degree relatives. Seven patients fulfilled hereditary cancer testing criteria in NCCN guidelines 2022. It is important to inform all patients about the possibility of secondary findings during consultations prior to conducting a CGP. It is also important for the primary physician to refer the patient to the genetics department when necessary before the patient undergoes CGP.

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© 2023 The Japanese Society for Hereditary Tumors
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