Frequency and features of TP 53 mutation in 30 C hinese patients with sporadic basal cell carcinoma

Summary Background Basal cell carcinoma ( BCC ) is a prevalent form of nonmelanoma skin cancer. Although numerous studies in white populations suggest that mutations in the TP 53 gene play an important role in the development of BCC , it is not clear whether this is also the case in E ast A sian populations such as in C hina. Aim To investigate the frequency and the features of TP 53 mutation in sporadic BCC in a C hinese population. Methods In total, 30 patients with sporadic BCC , who had previously taken part in a study on PTCH 1 mutations, were enrolled. BCC and control cells were obtained by laser‐capture microdissection, and DNA was amplified and sequenced for analysis of TP 53 mutations. Results In the 30 BCC samples, 6 TP 53 point mutations were found (frequency of 20%), and 4 of these 6 mutations had ultraviolet ( UV )‐specific alterations. Combining these results with those of the previous study on PTCH 1 mutations, we found that two patients with had three types of genetic alterations (each had two PTCH 1 mutations and one TP 53 point mutation). A further two patients each had one PTCH 1 mutation and one UV signature TP 53 mutation. In addition, the total number of UV ‐specific mutations of PTCH 1 and TP 53 accounted for 20% of the total patient group. Conclusions The incidence of TP 53 mutation in BCC in our C hinese subjects was lower than that reported for white populations. Many of the patients carried mutations of other genes in addition to of TP 53 . The majority of TP 53 mutations were UV ‐induced specific alterations. However, the results of the two studies on TP 53 and PTCH 1 indicated that the incidence of UV ‐specific mutations is much lower in C hinese than in white populations.