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Genetic medicine in companion diagnostics of germline BRCA testing of Japanese pancreatic cancer patients

Journal of Human Genetics volume 68, pages 81–86 (2023)Cite this article

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Abstract

In 2021, Japan’s national health insurance made germline BRCA (g.BRCA) testing available to unresectable pancreatic cancer (PC) patients as a companion diagnostic (CD) of the PARP inhibitor. This study investigated the incidence of the g.BRCA variant (g.BRCAv.) and the status of the genetic medicine associated with its testing. A total of 110 PC patients underwent the testing, five of whom (4.5%) had a deleterious g.BRCA2v. (all truncations) but no g.BRCA1v. The turnaround time (TAT) to the doctors was 13 days, and to the patients, 17 days. A higher incidence of a BRCA-related family history and a shorter TAT were seen in the g.BRCAv. patients, but they were insignificant (p = 0.085 and p = 0.059, respectively). Genetic counseling was not performed for three g.BRCA2v. patients because two of them had no accessible relatives and one died of the cancer before the genetic report was completed. Two families underwent generic counseling and testing based on the patient’s genetic data. g.BRCAv. is recognized in a small fraction of PC cases, and the following genetic counseling is done more for the relatives than for the patients. TAT was constant and did not affect much on the genetic counseling, but the earlier testing is expected for patients with a deadly cancer.

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Acknowledgements

We thank all of nurses and genetic coordinators in Shizuoka Cancer Center.

Author information

Authors and Affiliations

  1. Division of Genetic Medicine Promotion, Shizuoka, Japan

    Hiroyuki Matsubayashi, Satomi Higashigawa, Yoshimi Kiyozumi, Rina Harada, Nobuhiro Kado, Seiichiro Nishimura & Hirofumi Yasui

  2. Division of Endoscopy, Shizuoka, Japan

    Hiroyuki Matsubayashi, Hirotoshi Ishiwatari, Junya Sato & Hiroyuki Ono

  3. Division of Gastrointestinal Oncology, Shizuoka, Japan

    Akiko Todaka, Takeshi Kawakami, Satoshi Hamauchi, Tomoya Yokota, Hirofumi Yasui & Kentaro Yamazaki

  4. Division of Gynecology, Shizuoka, Japan

    Nobuhiro Kado

  5. Division of Breast Surgery, Shizuoka, Japan

    Seiichiro Nishimura

  6. Division of Hepato-Biliary-Pancreatic Surgery, Shizuoka, Japan

    Teiichi Sugiura

  7. Division of Pathology, Shizuoka, Japan

    Keiko Sasaki

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  1. Hiroyuki Matsubayashi
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Correspondence to Hiroyuki Matsubayashi.

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Institutional Review Board of Shizuoka Cancer Center ethically approved this study (Institutional code no.: J2022-61).

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Matsubayashi, H., Todaka, A., Kawakami, T. et al. Genetic medicine in companion diagnostics of germline BRCA testing of Japanese pancreatic cancer patients. J Hum Genet 68, 81–86 (2023). https://doi.org/10.1038/s10038-022-01097-y

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