Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark.

ABSTRACT:

Introduction

TP53 mutation carrier (Li-Fraumeni Syndrome, LFS) cohort studies often suffer from lack of extensive pedigree exploration.

Methods

We performed a nation-wide exploration of TP53 mutation carrier families identified through all clinical genetics departments in Denmark. Pedigrees were expanded and verified using unique national person identification, cancer, cause of death, pathology, and church registries.

Results

We identified 30 confirmed, six obligate and 14 assumed carriers in 15 families harboring 14 different mutations, including five novel and three de novo germline mutations. All but two (96%) developed cancer by age 54 years [mean debut age; 29.1 y., median 33.0 y., n = 26 (17F, 9M), range 1-54 y]]. Cancer was the primary cause of all deaths [aver

SUBMITTER: Stoltze U 

PROVIDER: S-EPMC5764253 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature