A novel dysfunctional germline P53 mutation identified in a family with Li-Fraumeni syndrome.

A novel dysfunctional germline P53 mutation identified in a family with Li-Fraumeni syndrome.

Am J Cancer Res. 2018;8(1):165-169

Authors: Ji M, Wang L, Shao Y, Cao W, Xu T, Chen S, Wang Z, He Q, Yang K

Abstract
Li-Fraumeni Syndrome (LFS), which is a rare dominantly inherited cancer predisposition syndrome, is associated with germline P53 mutations. Mutations of the tumor suppressor protein P53 are associated with more than 50% of human cancers; however, almost 30% of P53 mutations occur rarely and this has raised questions about their significance. It therefore appeared of particular interest that we identified a novel mutation in a patient suffering from breast cancer and fulfilling the diagnostic criteria of LFS. In this study, a patient with remarkable family history developed breast cancer and was diagnosed with LFS. By performing next-generation sequencing on the patient and subsequent verification by Sanger sequencing among other family members, a new germ-line P53 replication error, a trinucleotide repeat mutation in the coding region, was identified in two generations of this Li-Fraumeni family.

PMID: 29416929 [PubMed]

http://ift.tt/2skrEiB