Louise C. Strong

TL;DR: Germ line p53 mutations have been detected in all five LFS families analyzed and can now be examined in additional families with LFS, and in other cancer patients and families with clinical features that might be attributed to the mutation.

TL;DR: A model is proposed whereby SNP309 serves as a rate-limiting event in carcinogenesis, and a single nucleotide polymorphism (SNP309) is found in the MDM2 promoter and is shown to increase the affinity of the transcriptional activator Sp1, resulting in higher levels ofMDM2 RNA and protein and the subsequent attenuation of the p53 pathway.

TL;DR: It is shown that the wild-type p53 allele is lost when fibroblasts from patients with the Li-Fraumeni syndrome are passaged in vitro, and p53 contributes to a metabolically regulated G1 check-point, and they provide a model for understanding how abnormal cell cycle progression leads to the genetic rearrangements involved in tumor progression.

TL;DR: In vivo validation for the gain-of-function properties of certain p53 missense mutations are provided and a mechanistic basis for these phenotypes is suggested.

TL;DR: It is concluded that both radiotherapy and chemotherapy with alkylating agents for childhood cancer increase the subsequent risk of bone cancer.