Genetic Drivers in Endocrine Disorders: From Rare Variants to Aggressive Malignancies
A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Genetics and Genomics".
Deadline for manuscript submissions: 30 April 2026 | Viewed by 7
Special Issue Editors
Interests: cancer research; medical genetics; endocrinology; molecular diagnostics
2. Department of Pathology, “Carol Davila” University of Medicine and Pharmacy, 022328 Bucharest, Romania
Interests: molecular pathology; immunohistochemistry; translational research
Special Issues, Collections and Topics in MDPI journals
Interests: molecular pathology; immunohistochemistry; translational research
Special Issue Information
Dear Colleagues,
Endocrine pathologies have an important and widely recognized genetic background. Certain germline variants contribute to a more aggressive clinical phenotype, but there are also syndromic conditions (for example, MEN1 syndrome) with an aggressive phenotype and negative germline testing for well-known gene drivers. In these cases, other factors, such as other rare germline variants in other genes previously with no links to that pathology, somatic mosaicism, or technical limitations in genetic testing, could explain the aggressive phenotype in mutation-negative or atypical cases.
Different types of genetic variations in germline or tumor tissues—including unclassified deep-intronic variants, uncertain significance variants (VUS), promoter alterations, and copy number variations—can contribute to an aggressive cancer phenotype by affecting gene dosage, function, and regulation. These changes can lead to altered protein levels or function, disrupting normal cellular processes and potentially promoting tumor growth and malignancy.
A comprehensive molecular characterization of endocrine carcinomas achieved by validated robust laboratory technologies or emergent ones using continuing evolving bioinformatics tools can identify novel genetic mutations as likely mechanisms driving tumor’s aggressiveness.
We encourage submissions of original research and review articles on new rare variants as drivers of aggressive phenotypes in endocrine tumors, syndromic or non-syndromic, as contributions to elucidating molecular mechanisms and pathophysiology in these pathologies for this Special Issue, entitled “Genetic Drivers in Endocrine Disorders: From Rare Variants to Aggressive Malignancies”.
Dr. Sorina Schipor
Dr. Mihai Constantin Ceausu
Dr. Mihai Publik
Guest Editors
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Keywords
- endocrine tumors
- rare variants
- somatic variants
- next-generation sequencing
- molecular pathology
- differentially expressed genes
- aggressive tumor phenotype
- novel genetic tests
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