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A Japanese case of familial malignant melanoma with germline CDK4 variant incidentally diagnosed by cancer genome profiling

Journal of Human Genetics volume 68, pages 359–361 (2023)Cite this article

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Abstract

Familial malignant melanoma (FMM) is a hereditary tumor that is quite rare in Japan; to date, the germline CDK4 variant has scarcely been reported around the world. Thus, we report on a woman with FMM who developed salivary gland cancer, for which a germline pathogenic variant of CDK4 was incidentally identified through comprehensive genomic profiling. She had a history of multiple atypical nevi and a facial melanoma since her 30 s and multiple family histories of melanoma; however, none of her relatives were aware of its heredity. Genetic counseling and skin surveillance were performed. Precision medicine for cancer can discover this rare genetic syndrome and provides us with the opportunity to manage the health of patients and their relatives.

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Acknowledgements

The authors thank the staff at the Shizuoka Cancer Center Hospital for the clinical support and sample preparation.

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Authors and Affiliations

  1. Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Shizuoka, Japan

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

  2. Division of Pathology, Shizuoka Cancer Center, Shizuoka, Japan

    Keisuke Goto

  3. Division of Dermatology, Shizuoka Cancer Center, Shizuoka, Japan

    Shusuke Yoshikawa & Yoshio Kiyohara

  4. Division of Gastrointestinal Oncology, Shizuoka Cancer Center, Shizuoka, Japan

    Takahiro Tsushima

  5. Division of Nursing, Shizuoka Cancer Center, Shizuoka, Japan

    Kana Kunitomo & Naomi Fukuzaki

Authors
  1. Yoshimi Kiyozumi
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  2. Keisuke Goto
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  3. Shusuke Yoshikawa
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  4. Yoshio Kiyohara
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  5. Takahiro Tsushima
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  6. Nobuhiro Kado
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  7. Seiichiro Nishimura
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  8. Satomi Higashigawa
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  9. Rina Harada
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  10. Kana Kunitomo
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  11. Naomi Fukuzaki
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  12. Hiroyuki Matsubayashi
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Corresponding author

Correspondence to Hiroyuki Matsubayashi.

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Kiyozumi, Y., Goto, K., Yoshikawa, S. et al. A Japanese case of familial malignant melanoma with germline CDK4 variant incidentally diagnosed by cancer genome profiling. J Hum Genet 68, 359–361 (2023). https://doi.org/10.1038/s10038-022-01110-4

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  • DOI: https://doi.org/10.1038/s10038-022-01110-4

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