Simultaneous Occurrence of Multiple Neoplasms in Children with Cancer Predisposition Syndromes: Collaborating with Abnormal Genes
Abstract
:1. Introduction
2. Materials and Methods
2.1. Study Population
2.2. Molecular Analysis
2.3. Cytological and Histological Analysis
2.4. Data Visualization
3. Results
3.1. Identification of Cases with Simultaneous/Metachronous Multiple Cancers in a Studied Cohort
3.2. Pathogenic Variants of the BRCA2 Gene—Case 1
3.3. Pathogenic Variant of the NF1 Gene—Case 2
3.4. Pathogenic Variant of the DICER1 Gene—Case 3
4. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Gene | Function | Mutation Consequences | Health Conditions Related to Genetic Changes |
---|---|---|---|
BRCA2 |
| Most pathogenic variants of the BRCA2 gene result in the production of an abnormally small and nonfunctional form of the BRCA2 protein from one copy of the gene in each cell. This leads to a reduced amount of available protein, which impairs efficient DNA repair. The accumulation of these defects can trigger uncontrolled cell growth and division, ultimately leading to carcinogenesis. |
|
NF1 |
| Many pathogenic variants of the NF1 gene lead to the production of an extremely short version of neurofibromin, which is unable to inhibit cell division. The presence of these variants may result in a constitutive activation of the signal transduction pathway, as the G proteins are constantly active due to the failure to degrade the attached GTP molecule. The loss of protein activity also increases susceptibility to harmful UV effects. |
|
DICER1 |
| DICER1 can be considered both a tumor suppressor gene, due to loss-of-function mutations, and an oncogene, due to gain-of-function mutations. It is believed to function as a haploinsufficient tumor suppressor gene, where the loss of one allele leads to tumor progression, but the loss of both alleles has an inhibitory effect on tumor development, implying that one intact allele is necessary for cell survival. |
|
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Telman, G.; Strauss, E.; Sosnowska-Sienkiewicz, P.; Halasz, M.; Januszkiewicz-Lewandowska, D. Simultaneous Occurrence of Multiple Neoplasms in Children with Cancer Predisposition Syndromes: Collaborating with Abnormal Genes. Genes 2023, 14, 1670. https://doi.org/10.3390/genes14091670
Telman G, Strauss E, Sosnowska-Sienkiewicz P, Halasz M, Januszkiewicz-Lewandowska D. Simultaneous Occurrence of Multiple Neoplasms in Children with Cancer Predisposition Syndromes: Collaborating with Abnormal Genes. Genes. 2023; 14(9):1670. https://doi.org/10.3390/genes14091670
Chicago/Turabian StyleTelman, Gabriela, Ewa Strauss, Patrycja Sosnowska-Sienkiewicz, Magdalena Halasz, and Danuta Januszkiewicz-Lewandowska. 2023. "Simultaneous Occurrence of Multiple Neoplasms in Children with Cancer Predisposition Syndromes: Collaborating with Abnormal Genes" Genes 14, no. 9: 1670. https://doi.org/10.3390/genes14091670