Publications by authors named "MªLeonor Senent"
Am J Hematol
February 2025
Article Synopsis
- Fanconi anemia (FA) is a rare genetic disorder marked by varying symptoms and significant chromosome fragility, leading to severe health issues like cancer and bone marrow failure.
- The Spanish Registry of Patients with FA gathered data from 227 patients over 30 years, revealing an 86% cumulative cancer incidence by age 50, with outcomes differing based on chromosome fragility and specific gene mutations.
- Findings suggest that patients with mutations allowing some protein function (genetic hypomorphism) tend to have better health outcomes, indicating potential for new therapies that could enhance mutant FA protein function to improve patient prognosis.
