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Challenges in molecular diagnosis of multiple endocrine neoplasia
Pauline Romanet1, Théo Charnay1, Nicolas Sahakian2
1Aix Marseille Univ, APHM, INSERM, MMG, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, BIOGENOPOLE, Marseille, France.
Abstract:
Multiple endocrine neoplasia (MEN) is a group of rare genetic diseases characterized by the occurrence of multiple tumors of the endocrine system in the same patient. The first MEN described was MEN1, followed by MEN2A, and MEN2B. The identification of the genes responsible for these syndromes led to the introduction of family genetic screening programs. More than twenty years later, not all cases of MENs have been resolved from a genetic point of view, and new clinicogenetic entities have been described. In this review, we will discuss the strategies and difficulties of genetic screening for classic and newly described MENs in a clinical setting, from limitations in sequencing, to problems in classifying variants, to the identification of new candidate genes. In the era of genomic medicine, characterization of new candidate genes and their specific tumor risk is essential for inclusion of patients in personalized medicine programs as well as to permit accurate genetic counseling to be proposed for families.
Insights
Genetic screening for Multiple Endocrine Neoplasia (MEN) syndromes faces challenges in identifying new genes and classifying variants. Accurate genetic diagnosis is crucial for personalized medicine and family counseling.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple Endocrine Neoplasia (MEN) comprises rare genetic disorders causing endocrine tumors.
- MEN1, MEN2A, and MEN2B are classic types, with genetic screening programs established after gene identification.
- Despite advances, genetic causes for some MEN cases remain unknown, and new clinicogenetic entities emerge.
Purpose of the Study:
- To review strategies and challenges in clinical genetic screening for MEN syndromes.
- To discuss limitations in sequencing, variant classification, and novel gene discovery.
- To highlight the importance of characterizing new candidate genes for personalized medicine and genetic counseling.
Main Methods:
- Review of existing literature on MEN genetic screening.
- Analysis of challenges in gene sequencing and variant interpretation.
- Discussion of emerging genetic entities and candidate gene identification.
Main Results:
- Genetic screening for MEN has evolved but still faces limitations.
- Variant classification and identification of novel candidate genes are ongoing challenges.
- Genomic medicine necessitates characterization of new genes for accurate risk assessment.
Conclusions:
- Effective genetic screening for MEN requires addressing current limitations in sequencing and variant classification.
- Identifying new candidate genes is essential for advancing personalized medicine in MEN.
- Accurate genetic counseling for families relies on comprehensive understanding of MEN genetics.
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