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Article

Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina

1
Genotipificación, Departamento de Análisis Clínicos, Centro de Estudios Médicos e Investigaciones Clínicas, Ciudad Autónoma de Buenos Aires C1431FWO, Argentina
2
Instituto de Investigaciones Biomédicas, Facultad de Medicina, Universidad de Buenos Aires/Consejo Nacional de Investigaciones, Científicas y Técnicas, Ciudad Autónoma de Buenos Aires C1121ABG, Argentina
3
Departamento de Bioquímica Humana, Facultad de Medicina, Universidad de Buenos Aires, Ciudad Autónoma de Buenos Aires C1121ABG, Argentina
*
Author to whom correspondence should be addressed.
Academic Editors: Eladio A. Velasco, Maaike P. G. Vreeswijk and Miguel De la Hoya
Cancers 2021, 13(11), 2711; https://doi.org/10.3390/cancers13112711
Received: 7 May 2021 / Revised: 19 May 2021 / Accepted: 22 May 2021 / Published: 31 May 2021
(This article belongs to the Special Issue Genetic Variants Associated with Breast and Ovarian Cancer Risk)
Gene/s sequencing in hereditary breast/ovary cancer (HBOC) in routine diagnosis is challenged by the analysis of panels. The aim of this report is to describe a retrospective analysis of BRCA1/2 and non-BRCA gene sequencing in patients with breast/ovary cancer (BOC), including triple-negative breast cancer (TNBC). TNBC is associated to BRCA1/2 at a higher rate than the rest of the breast cancer types. The more prevalent pathogenic variants (PVs) in BRCA1/2 genes do not rule out the importance to panels of genes, although they are certainly far from shedding light on the gap of the 85% predicted linkage association of BOC with BRCA1/2 and are still not elucidated. This data is also of value in health programming for alerting risks in breast screening and knowledge of the regional spectrum of genetic variants.
Gene/s sequencing in hereditary breast/ovary cancer (HBOC) in routine diagnosis is challenged by the analysis of panels. We aim to report a retrospective analysis of BRCA1/2 and non-BRCA gene sequencing in patients with breast/ovary cancer (BOC), including triple-negative breast cancer (TNBC), in our population. In total 2155 BOC patients (1900 analyzed in BRCA1/2 and 255 by multigenic panels) gave 372 (17.2.6%) and 107 (24.1%) likely pathogenic/pathogenic variants (LPVs/PVs), including BRCA and non-BRCA genes, for the total and TNBC patients, respectively. When BOC was present in the same proband, a 51.3% rate was found for LPVs/PVs in BRCA1/2. Most of the LPVs/PVs in the panels were in BRCA1/2; non-BRCA gene LPVs/PVs were in CDH1, CHEK2, CDKN2A, MUTYH, NBN, RAD51D, and TP53. TNBC is associated with BRCA1/2 at a higher rate than the rest of the breast cancer types. The more prevalent PVs in BRCA1/2 genes (mostly in BRCA1) do not rule out the importance to panels of genes, although they are certainly far from shedding light on the gap of the 85% predicted linkage association of BOC with BRCA1/2 and are still not elucidated. View Full-Text
Keywords: triple-negative breast cancer; NGS of gene panels; genetic predisposition to breast cancer; germline genetic testing triple-negative breast cancer; NGS of gene panels; genetic predisposition to breast cancer; germline genetic testing
MDPI and ACS Style

Solano, A.R.; Mele, P.G.; Jalil, F.S.; Liria, N.C.; Podesta, E.J.; Gutiérrez, L.G. Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina. Cancers 2021, 13, 2711. https://doi.org/10.3390/cancers13112711

AMA Style

Solano AR, Mele PG, Jalil FS, Liria NC, Podesta EJ, Gutiérrez LG. Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina. Cancers. 2021; 13(11):2711. https://doi.org/10.3390/cancers13112711

Chicago/Turabian Style

Solano, Angela R., Pablo G. Mele, Fernanda S. Jalil, Natalia C. Liria, Ernesto J. Podesta, and Leandro G. Gutiérrez. 2021. "Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina" Cancers 13, no. 11: 2711. https://doi.org/10.3390/cancers13112711

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