National collaborative strategy to improve the identification and clinical management of Constitutional Mismatch Repair Deficiency (CMMRD) syndrome

CMMRD is a rare pediatric-onset cancer syndrome caused by biallelic mutations in the MMR genes. The severity of CMMRD is...

September 15, 2023

Validation of the clinical use of high-sensitivity microsatellite instability assessment in improving early diagnosis of endometrial cancer and establishing personalized gynecological follow-up strategies in Lynch syndrome

Current early detection and gynaecological follow-up strategies are not effective. Our group has identified a potential cancer progression biomarker in...

May 22, 2023

Underpining the effects of defective miRNA biogenesis in the formation of thyroid tumors

Germline pathogenic variants in DICER1 predispose to the development of multiple tumors during childhood. The most prevalent phenotype is multinodular...

May 15, 2023