| ID | 64117 |
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| Author |
Okazawa-Sakai, Mika
Department of Clinical Genomic Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Yamamoto, Yasuko
Department of Cancer Genomic Medicine, National Hospital Organization Shikoku Cancer Center
Futagawa, Mashu
Department of Clinical Genomic Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Okamura, Miki
Department of Hereditary Tumors, National Hospital Organization Shikoku Cancer Center
Miyawaki, Satoko
Department of Cancer Genomic Medicine, National Hospital Organization Shikoku Cancer Center
Nishina, Tomohiro
Department of Cancer Genomic Medicine, National Hospital Organization Shikoku Cancer Center
Takehara, Kazuhiro
Department of Gynecologic Oncology, National Hospital Organization Shikoku Cancer Center
Kozuki, Toshiyuki
Department of Clinical Research Center, National Hospital Organization Shikoku Cancer Center
Tomida, Shuta
Center for Comprehensive Genomic Medicine, Okayama University Hospital
Hyodo, Ichinosuke
Department of Cancer Genomic Medicine, National Hospital Organization Shikoku Cancer Center
Ohsumi, Shozo
Department of Hereditary Tumors, National Hospital Organization Shikoku Cancer Center
Hirasawa, Akira
Department of Clinical Genomic Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
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| Abstract | Patients found to have presumed germline pathogenic variants (PGPVs) during comprehensive genomic profiling (CGP) require genetic counseling (GC) referrals. We retrospectively investigated the outcomes of patients with PGPVs. Among 159 patients who underwent CGP, we recommended GC for the 16 patients with PGPVs (3 with [FG group] and 13 without [G Group] a family/personal history of hereditary cancer) as well as for the 8 patients with no PGPVs, but a history (F group); 2 (67%), 5 (38%), and 3 (38%) patients received GC in the FG, G, and F groups, respectively. Germline testing results were positive in 1 and 2 patients of the FG and G groups, respectively. Among the patients recommended for GC, 58% did not receive GC due to lack of interest, poor performance status, or death. CGP contributes to the identification of germline variants in patients without a history of hereditary cancer. However, the proportion of patients who undergo GC should be improved.
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| Keywords | comprehensive genomic profiling
hereditary cancer
germline findings
presumed germline pathogenic variant(s)
genetic counseling
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| Amo Type | Original Article
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| Publication Title |
Acta Medica Okayama
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| Published Date | 2022-12
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| Volume | volume76
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| Issue | issue6
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| Publisher | Okayama University Medical School
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| Start Page | 673
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| End Page | 678
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| ISSN | 0386-300X
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| NCID | AA00508441
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| Content Type |
Journal Article
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| language |
English
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| Copyright Holders | Copyright Ⓒ 2022 by Okayama University Medical School
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| File Version | publisher
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| Refereed |
True
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