Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants
B. Popp, R. Erber, C. Kraus, G. Vasileiou, J. Hoyer, S. Burghaus, A. Hartmann, M. W. Beckmann, A. Reis, A. Agaimy
The paper identifies biallelic somatic fumarase variants in FH-deficient uterine leiomyomas and estimates germline FH variant carrier frequency.
bioRxiv · Apr 19, 2020Pathology