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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 - 1 May 2023

Kiyozumi Yoshimi, Goto Keisuke, Yoshikawa Shusuke, Kiyohara Yoshio, Tsushima Takahiro, Kado Nobuhiro, Nishimura Seiichiro, Higashigawa Satomi, Harada Rina, Kunitomo Kana, Fukuzaki Naomi, Matsubayashi Hiroyuki

Abstract excerpt

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...

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PMID: 36631500
DOI: 10.1038/s10038-022-01110-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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