Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico
Abstract
:1. Introduction
2. Materials and Methods
2.1. Patients’ Groups and Approval from the Ethics Committee
2.2. Algorithm Workflow
2.3. Proband Patients NGS Study
2.4. Genetic Counseling
2.5. Test for Relatives and DNA Extraction
2.6. DNA Sanger Sequencing for Relatives
2.7. Bioinformatics Analysis and Variant Annotation
3. Results
3.1. Patient Description
3.2. Germline Variants
3.3. HCS Frequency
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Cancer Distribution | n (%) |
---|---|
Breast (total) Breast (Unilateral) Breast (Bilateral) Breast (Bilateral) & Pancreas Breast & Pancreas Breast and Ovarian | 95 (78.51) 82 (86.31) 8 (8.42) 1 (1.05) 1 (1.95) 3 (3.15) |
Ovarian (total) Ovarian (unilateral) Ovarian, Kidney and Pseudomyxoma | 10 (8.26) 9 (90) 1 (10) |
Colon | 8 (6.61) |
Melanoma, Breast, and Cervical | 1 (0.82) |
Endometrial | 3 (2.47) |
Sarcoma (total) Sarcoma Sarcoma and Thyroid | 2 (1.65) 1 (50) 1 (50) |
Medulloblastoma and Kidney | 1 (0.82) |
Hemangioendothelioma | 1 (0.82) |
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Pérez-Ibave, D.C.; Garza-Rodríguez, M.L.; Noriega-Iriondo, M.F.; Flores-Moreno, S.M.; González-Geroniz, M.I.; Espinoza-Velazco, A.; Castruita-Ávila, A.L.; Alcorta-Núñez, F.; Zayas-Villanueva, O.A.; González-Guerrero, J.F.; et al. Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico. Genes 2023, 14, 341. https://doi.org/10.3390/genes14020341
Pérez-Ibave DC, Garza-Rodríguez ML, Noriega-Iriondo MF, Flores-Moreno SM, González-Geroniz MI, Espinoza-Velazco A, Castruita-Ávila AL, Alcorta-Núñez F, Zayas-Villanueva OA, González-Guerrero JF, et al. Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico. Genes. 2023; 14(2):341. https://doi.org/10.3390/genes14020341
Chicago/Turabian StylePérez-Ibave, Diana Cristina, María Lourdes Garza-Rodríguez, María Fernanda Noriega-Iriondo, Sonia María Flores-Moreno, Manuel Ismael González-Geroniz, Absalon Espinoza-Velazco, Ana Lilia Castruita-Ávila, Fernando Alcorta-Núñez, Omar Alejandro Zayas-Villanueva, Juan Francisco González-Guerrero, and et al. 2023. "Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico" Genes 14, no. 2: 341. https://doi.org/10.3390/genes14020341