PRJNA533711
Whole-exome Sequencing of Hereditary Leiomyomatosis Associated Renal Cell Carcinoma (HLRCC)
This study of 8 HLRCC patients using whole-exome sequencing, FISH and immunohistochemistry denoted that HLRCC had genetic characteristics distinct from major RCC subtypes, in terms of somatic mutations, microsatellite instability, tumor mutation burden, tumor neoantigen burden and chromosomal aberrations.