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- W4254409274 abstract "Nevoid basal cell carcinoma (BCC) syndrome, also known as Gorlin syndrome (GS), is caused by aberrant activation of the hedgehog (Hh) sonic pathway. GS is due to mutations in the PTCH1 gene (transmembrane protein patched homolog 1) in the majority of cases observed. However, in rare cases mutations of the SUFU (suppressor of fused) gene and the PTCH2 gene (in very rare cases) are reported in patients suffering from GS. The most common feature of this syndrome is the development of BCCs during puberty, which are often more clinically aggressive than those seen in the general population. The PTCH1 (patched 1) gene codes for a transmembrane receptor are found in early stages of the so-called Hh signaling pathway. As with most genetic predispositions to cancer, the mode of transmission of GS is the autosomal dominant mode." @default.
- W4254409274 created "2022-05-12" @default.
- W4254409274 date "2021-04-20" @default.
- W4254409274 modified "2023-09-23" @default.
- W4254409274 title "Gorlin Syndrome" @default.
- W4254409274 doi "https://doi.org/10.1002/9781119818113.ch10" @default.
- W4254409274 hasPublicationYear "2021" @default.
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