# Clinical utility of comprehensive genomic profiling in 175 Japanese patients with advanced skin malignancies refractory to standard therapies

**Authors:** Yumi Kambayashi, Taku Fujimura, Hiroshi Kato, Soichiro Kado, Takeo Maekawa, Fumitaka Ono, Takamichi Ito, Megumi Aoki, Shigeto Matsushita, Azusa Miyashita, Satoshi Fukushima, Daiki Rokunohe, Emi Yamazaki, Manami Takahashi-Watanabe, Masayuki Asano, Yoshihide Asano

PMC · DOI: 10.1016/j.jdin.2026.01.012 · 2026-02-05

## Full-text entities

- **Genes:** PARP1 (poly(ADP-ribose) polymerase 1) [NCBI Gene 142] {aka ADPRT, ADPRT 1, ADPRT1, ARTD1, PARP, PARP-1}, MAP2K7 (mitogen-activated protein kinase kinase 7) [NCBI Gene 5609] {aka JNKK2, MAPKK7, MEK, MEK 7, MKK7, PRKMK7}, ERBB2 (erb-b2 receptor tyrosine kinase 2) [NCBI Gene 2064] {aka CD340, HER-2, HER-2/neu, HER2, MLN 19, MLN-19}, BRAF (B-Raf proto-oncogene, serine/threonine kinase) [NCBI Gene 673] {aka B-RAF1, B-raf, BRAF-1, BRAF1, NS7, RAFB1}, NUTM1 (NUT midline carcinoma family member 1) [NCBI Gene 256646] {aka C15orf55, FAM22H, NUT}, KIT (KIT proto-oncogene, receptor tyrosine kinase) [NCBI Gene 3815] {aka C-Kit, CD117, MASTC, PBT, SCFR}
- **Diseases:** PD (MESH:D010300), CGP (MESH:D001308), melanoma (MESH:D008545), stable disease (MESH:D060050), cancer (MESH:D009369), SD (MESH:D012735), nonmelanoma skin cancer (MESH:D012878), extramammary Paget disease (MESH:D010145), cutaneous squamous cell carcinoma (MESH:D002294), cutaneous sarcomas (MESH:D012509), Merkel cell carcinoma (MESH:D015266), DFSP (MESH:D018223), cutaneous malignancies (MESH:C562393), PR (MESH:D008151), Basal cell carcinoma (MESH:D002280)
- **Chemicals:** 5-FU (MESH:D005472), CGP (-), CDDP (MESH:D002945), CR (MESH:D002857), pembrolizumab (MESH:C582435), docetaxel (MESH:D000077143)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** p.V559D, p.I767M, p.P551R, p.W2626*, p.W1718C, p.K642E, p.D579del, p.N581S, p.V600R, p.Y578S

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12962143/full.md

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Source: https://tomesphere.com/paper/PMC12962143