RET Copy Number Alteration in Medullary Thyroid Cancer Is a Rare Event Correlated with RET Somatic Mutations and High Allelic Frequency
Abstract
:1. Introduction
2. Materials and Methods
2.1. Study Group
2.2. Methods
3. Results
3.1. Analysis of the RET Copy Number
3.2. Correlation between RET Gene CNV and RET Somatic Mutation Profile
3.3. Correlation between RET Gene CNV and Variant Allele Frequency (VAF)
3.4. Correlation between Outcome and Ploidy Status
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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MLPA ASSAY n/tot (%) | PLOIDY CALL |
---|---|
DQ < 0.8 3/78 (3.8) | deleted |
0.8 ≤ DQ < 1.3 66/78 (84.6) | diploid |
DQ ≥ 1.3 9/78 (11.6) | amplified |
ION REPORTER n/tot (%) | PLOIDY CALL |
---|---|
CNV < 0.7 5/158 (3.2) | deleted |
0.7 < CNV < 1.4 137/158 (86.7) | diploid |
CNV > 1.4 16/158 (10.7) | amplified |
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Ramone, T.; Mulè, C.; Ciampi, R.; Bottici, V.; Cappagli, V.; Prete, A.; Matrone, A.; Piaggi, P.; Torregrossa, L.; Basolo, F.; et al. RET Copy Number Alteration in Medullary Thyroid Cancer Is a Rare Event Correlated with RET Somatic Mutations and High Allelic Frequency. Genes 2021, 12, 35. https://doi.org/10.3390/genes12010035
Ramone T, Mulè C, Ciampi R, Bottici V, Cappagli V, Prete A, Matrone A, Piaggi P, Torregrossa L, Basolo F, et al. RET Copy Number Alteration in Medullary Thyroid Cancer Is a Rare Event Correlated with RET Somatic Mutations and High Allelic Frequency. Genes. 2021; 12(1):35. https://doi.org/10.3390/genes12010035
Chicago/Turabian StyleRamone, Teresa, Chiara Mulè, Raffaele Ciampi, Valeria Bottici, Virginia Cappagli, Alessandro Prete, Antonio Matrone, Paolo Piaggi, Liborio Torregrossa, Fulvio Basolo, and et al. 2021. "RET Copy Number Alteration in Medullary Thyroid Cancer Is a Rare Event Correlated with RET Somatic Mutations and High Allelic Frequency" Genes 12, no. 1: 35. https://doi.org/10.3390/genes12010035
APA StyleRamone, T., Mulè, C., Ciampi, R., Bottici, V., Cappagli, V., Prete, A., Matrone, A., Piaggi, P., Torregrossa, L., Basolo, F., Elisei, R., & Romei, C. (2021). RET Copy Number Alteration in Medullary Thyroid Cancer Is a Rare Event Correlated with RET Somatic Mutations and High Allelic Frequency. Genes, 12(1), 35. https://doi.org/10.3390/genes12010035