Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome.
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ABSTRACT:
SUBMITTER: Nakase Y
PROVIDER: S-EPMC7674431 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Publications
Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome.
Nakase Yoji Y Hamada Atsuko A Kitamura Naoya N Hata Tsuyoshi T Toratani Shigeaki S Yamamoto Tetsuya T Okamoto Tetsuji T
Human genome variation 20201118 1
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant manner and is characterized by a combination of developmental abnormalities and a predisposition to tumor formation. Hedgehog receptor Patched 1 (PTCH1) has been identified as the mutated gene in NBCCS. We identified the PTCH1_c.3298_3299insAAG_p.1099_1100insE mutation in the transmembrane region, which comprises a sterol transporter whose abnormal function is reportedly related to ...[more]
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