Ontology highlight
ABSTRACT:
SUBMITTER: Popp B
PROVIDER: S-EPMC7581509 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Popp Bernt B Erber Ramona R Kraus Cornelia C Vasileiou Georgia G Hoyer Juliane J Burghaus Stefanie S Hartmann Arndt A Beckmann Matthias W MW Reis André A Reis André A Agaimy Abbas A
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 20200701 11
Uterine leiomyomas (ULs) constitute a considerable health burden in the general female population. The fumarate hydratase (FH) deficient subtype is found in up to 1.6% and can occur in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. We sequenced 13 FH deficient ULs from a previous immunohistochemical screen using a targeted panel and identified biallelic FH variants in all. In eight, we found an FH point mutation (two truncating, six missense) with evidence for loss of the s ...[more]