Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients

Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma

“…The primers used in this study have been previously described. 15 PCR was carried out in a total reaction volume of 50 ml, containing 100 ng genomic DNA, 1 U Primer STAR HS DNA polymerase (TaKaRa, Ohtsu, Japan), 200 mM dNTPs and 0.2 mM of each primer. Amplification was carried out for 40 cycles of 98 1C for 10 s, 55 1C for 5 s and 72 1C for 60 s. Amplified products were purified using the MinElute PCR Purification Kit (Qiagen).…”

“…15,[17][18][19][20][21][22][23][24][25][26][27][28] Table 3 summarizes the spectrum of PTCH1 mutations and phenotypes of Japanese NBCCS patients. Overall 56 subjects who fulfilled the criteria for NBCCS were analyzed.…”

Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan

“…These patients are listed in Table 1. Some of them have been reported previously by us (9) and one patient reported by others (NS6) (10) is also included in the table, all of which are of Japanese origin. To our knowledge, this table includes all the patients with PTCH1 deletions in which the breakpoints have been identified at the nucleotide level.…”

Pediatric Medulloblastoma: The Role of Heterozygous Germ-Line Mutations in the NBN Gene

“…In the absence of Shh receptors, PTCH acts as an inhibitor of the expression and activity of a transmembrane protein called Smothened (SMO). Binding of Shh to the PTCH receptor causes, however, dissociation of PTCH from SMO, which then acts as a positive signal transducer on downstream pathways (Ellison 2002 ;Takahashi et al 2009 ) . Therefore, loss of function of PTCH is thought to be functionally similar to excessive Shh, pointing to PTCH as a tumor suppressor gene.…”