Study of low-frequency variants identified in hereditary cancer genes to recognise impact of constitutional mosaicism for patients’ management.
Project Study of low-frequency variants identified in hereditary cancer genes to recognise impact of constitutional mosaicism for patients’ management. Improvement of the current standard of routine constitutional analysis in patients suspected of having hereditary neoplastic syndrome. Correct and precise identification of patients carrying low-frequency constitutional variants, with optimization of laboratory processes to avoid inconclusive results.