Ontology highlight
ABSTRACT:
SUBMITTER: Stoltze U
PROVIDER: S-EPMC5764253 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Stoltze Ulrik U Skytte Anne-Bine AB Roed Henriette H Hasle Henrik H Ejlertsen Bent B Overeem Hansen Thomas van TV Schmiegelow Kjeld K Gerdes Anne-Marie AM Wadt Karin K
PloS one 20180111 1
<h4>Introduction</h4>TP53 mutation carrier (Li-Fraumeni Syndrome, LFS) cohort studies often suffer from lack of extensive pedigree exploration.<h4>Methods</h4>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.<h4>Results</h4>We identified 30 confirmed, six obligate and 14 ...[more]