| Abstrakt: |
A recent study from Aix-Marseille University in Marseille, France, explores the challenges in molecular diagnosis of multiple endocrine neoplasia (MEN), a group of rare genetic diseases characterized by the occurrence of multiple tumors in the endocrine system. The study discusses the strategies and difficulties of genetic screening for both classic and newly described MENs, including limitations in sequencing, problems in classifying variants, and the identification of new candidate genes. The researchers emphasize the importance of characterizing new candidate genes and their specific tumor risk in order to include patients in personalized medicine programs and provide accurate genetic counseling for families. [Extracted from the article] |
