Next Article in Journal
Assessment of MRI-Based Attenuation Correction for MRI-Only Radiotherapy Treatment Planning of the Brain
Previous Article in Journal
Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience
Article

Genetic Variants in the 3’UTR of BRCA1 and BRCA2 Genes and Their Putative Effects on the microRNA Mechanism in Hereditary Breast and Ovarian Cancer

1
Laboratory of Immunology and Virology, Collage of Biological Sciences, Universidad Autónoma de Nuevo Leon, San Nicolas de los Garza, Nuevo Leon 66451, Mexico
2
Molecular Medicine Laboratory, Human Medicine and HS Academic Unit, Universidad Autonoma de Zacatecas, Zacatecas, Zacatecas 98160, Mexico
3
University Center Against Cancer (CUCC), Hospital Universitario “Dr. José E. González”, Collage of Medicine, Universidad Autónoma de Nuevo Leon, Monterrey, Nuevo Leon 64460, Mexico
4
Faculty of Medicine, Universidad de Colima, Colima, Colima 28040, Mexico
5
Colima State Cancer Institute, Universidad de Colima, Colima, Colima 28040, Mexico
6
Laboratory of Molecular and Structural Physiology, Collage of Biological Sciences, Universidad Autonoma de Nuevo Leon, San Nicolas de los Garza, Nuevo Leon 66451, Mexico
7
Department of Genetics, Collage of Medicina, Universidad Autonoma de Nuevo Leon, Monterrey, Nuevo Leon 64460, Mexico
*
Authors to whom correspondence should be addressed.
These authors contributed equally to this work.
Diagnostics 2020, 10(5), 298; https://doi.org/10.3390/diagnostics10050298
Received: 26 February 2020 / Revised: 1 April 2020 / Accepted: 10 April 2020 / Published: 13 May 2020
(This article belongs to the Section Pathology and Molecular Diagnostics)
Hereditary breast and ovarian cancer (HBOC) syndrome is mainly caused by mutations in the BRCA1 and BRCA2 genes. The 3’UTR region allows for the binding of microRNAs, which are involved in genetic tune regulation. We aimed to identify allelic variants on 3’UTR miRNA-binding sites in the BRCA1 and BRCA2 genes in HBOC patients. Blood samples were obtained from 50 patients with HBOC and from 50 controls. The 3’UTR regions of BRCA1 and BRCA2 were amplified by PCR and sequenced to identify genetic variants using bioinformatics tools. We detected nine polymorphisms in 3’UTR, namely: four in BRCA1 (rs3092995 (C/G), rs8176318 (C/T), rs111791349 (G/A), and rs12516 (C/T)) and five in BRCA2 (rs15869 (A/C), rs7334543 (A/G), rs1157836 (A/G), and rs75353978 (TT/del TT)). A new variant in position c.*457 (A/C) on 3’UTR of BRCA2 was also identified. The following three variants increased the risk of HBOC in the study population: rs111791349-A, rs15869-C, and c.*457-C (odds ratio (OR) range 3.7–15.4; p < 0.05). Genetic variants into the 3’UTR of BRCA1 and BRCA2 increased the risk of HBOC between 3.7–15.4 times in the study population. The presence/absence of these polymorphisms may influence the loss/creation of miRNA binding sites, such as hsa-miR-1248 in BRCA1 3′UTR or the hsa-miR-548 family binding site in BRCA2. Our results add new evidence of miRNA participation in the pathogenesis of HBOC. View Full-Text
Keywords: hereditary breast and ovarian cancer; BRCA1; BRCA2; miRNA; polymorphism; 3’UTR region hereditary breast and ovarian cancer; BRCA1; BRCA2; miRNA; polymorphism; 3’UTR region
Show Figures

Figure 1

  • Supplementary File 1:

    PDF-Document (PDF, 34 KiB)

  • Externally hosted supplementary file 1
    Doi: 10.5281/zenodo.3687365
    Description: Tests for deviation from Hardy-Weinberg equilibrium and tests for association
MDPI and ACS Style

Sánchez-Chaparro, M.M.; Garza-Veloz, I.; Zayas-Villanueva, O.A.; Martinez-Fierro, M.L.; Delgado-Enciso, I.; Gomez-Govea, M.A.; Martínez-de-Villarreal, L.E.; Reséndez-Pérez, D.; Rodríguez-Sánchez, I.P. Genetic Variants in the 3’UTR of BRCA1 and BRCA2 Genes and Their Putative Effects on the microRNA Mechanism in Hereditary Breast and Ovarian Cancer. Diagnostics 2020, 10, 298. https://doi.org/10.3390/diagnostics10050298

AMA Style

Sánchez-Chaparro MM, Garza-Veloz I, Zayas-Villanueva OA, Martinez-Fierro ML, Delgado-Enciso I, Gomez-Govea MA, Martínez-de-Villarreal LE, Reséndez-Pérez D, Rodríguez-Sánchez IP. Genetic Variants in the 3’UTR of BRCA1 and BRCA2 Genes and Their Putative Effects on the microRNA Mechanism in Hereditary Breast and Ovarian Cancer. Diagnostics. 2020; 10(5):298. https://doi.org/10.3390/diagnostics10050298

Chicago/Turabian Style

Sánchez-Chaparro, María M., Idalia Garza-Veloz, Omar A. Zayas-Villanueva, Margarita L. Martinez-Fierro, Iván Delgado-Enciso, Mayra A. Gomez-Govea, Laura E. Martínez-de-Villarreal, Diana Reséndez-Pérez, and Iram P. Rodríguez-Sánchez. 2020. "Genetic Variants in the 3’UTR of BRCA1 and BRCA2 Genes and Their Putative Effects on the microRNA Mechanism in Hereditary Breast and Ovarian Cancer" Diagnostics 10, no. 5: 298. https://doi.org/10.3390/diagnostics10050298

Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop