Publications by authors named "I Escandell"
Article Synopsis
- Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a rare genetic condition linked to mutations in the FH gene, with a prevalent mutation identified in a large cohort from Spain.
- The study confirmed that a common variant, FH c.1118A > G p.(Asn373Ser), likely originated from a single ancestor 12-26 generations ago, causing specific health issues such as uterine leiomyomatosis and renal cell cancer in affected individuals.
- In Alicante, Spain, this founder mutation is prevalent, and genetic testing for this specific mutation is suggested as a more efficient diagnostic method than full gene sequencing for those suspected of having HLRCC.
Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancers (RCCs). We aimed to describe the genetics, clinical features and potential genotype-phenotype associations in the largest cohort of fumarate hydratase enzyme mutation carriers known from Spain using a multicentre, retrospective study of individuals with a genetic or clinical diagnosis of HLRCC. We collected clinical information from medical records, analysed genetic variants and looked for genotype-phenotype associations.
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