Clinical characteristics of patients with Breast and / or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, Argentina
Introduction: Hereditary predisposition syndromes to cancer represent 5-10% of cancer cases, the most studied being HBOC produced by mutations in the BRCA1/2 genes. Objectives: To describe clinical, histopathological and PV characteristics in patients with HBOC in Córdoba, Argentina and compare it w...
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| Lenguaje: | Español |
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Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2022
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| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/34533 |
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I10-R327-article-34533 |
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Universidad Nacional de Córdoba |
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R-327 |
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Revista de la Facultad de Ciencias Médicas de Córdoba |
| language |
Español |
| format |
Artículo revista |
| topic |
genes brca1 genes brca2 breast neoplasms ovarian neoplasms genes brca1 genes brca2 neoplasias de la mama neoplasias ováricas genes brca1 genes brca2 neoplasias da mama neoplasias ovarianas |
| spellingShingle |
genes brca1 genes brca2 breast neoplasms ovarian neoplasms genes brca1 genes brca2 neoplasias de la mama neoplasias ováricas genes brca1 genes brca2 neoplasias da mama neoplasias ovarianas Martin, Claudia Alejandra Suárez Villasmil, Lourdes Sembaj, Adela Gomez Balangione, Fabian Zunino, Silvia Montes, Cecilia del Carmen Borello, Adriana Del Castillo, Andres Zeballos, Maximiliano Rossi, Norma Teresa Clinical characteristics of patients with Breast and / or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, Argentina |
| topic_facet |
genes brca1 genes brca2 breast neoplasms ovarian neoplasms genes brca1 genes brca2 neoplasias de la mama neoplasias ováricas genes brca1 genes brca2 neoplasias da mama neoplasias ovarianas |
| author |
Martin, Claudia Alejandra Suárez Villasmil, Lourdes Sembaj, Adela Gomez Balangione, Fabian Zunino, Silvia Montes, Cecilia del Carmen Borello, Adriana Del Castillo, Andres Zeballos, Maximiliano Rossi, Norma Teresa |
| author_facet |
Martin, Claudia Alejandra Suárez Villasmil, Lourdes Sembaj, Adela Gomez Balangione, Fabian Zunino, Silvia Montes, Cecilia del Carmen Borello, Adriana Del Castillo, Andres Zeballos, Maximiliano Rossi, Norma Teresa |
| author_sort |
Martin, Claudia Alejandra |
| title |
Clinical characteristics of patients with Breast and / or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, Argentina |
| title_short |
Clinical characteristics of patients with Breast and / or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, Argentina |
| title_full |
Clinical characteristics of patients with Breast and / or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, Argentina |
| title_fullStr |
Clinical characteristics of patients with Breast and / or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, Argentina |
| title_full_unstemmed |
Clinical characteristics of patients with Breast and / or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, Argentina |
| title_sort |
clinical characteristics of patients with breast and / or ovarian cancer with mutations in the brca1 and brca2 genes in córdoba, argentina |
| description |
Introduction: Hereditary predisposition syndromes to cancer represent 5-10% of cancer cases, the most studied being HBOC produced by mutations in the BRCA1/2 genes. Objectives: To describe clinical, histopathological and PV characteristics in patients with HBOC in Córdoba, Argentina and compare it with those without BRCA1/2 mutations. Methods: Cross-sectional, correlational and observational analysis of patients from Córdoba. The ANOVA, Student's t test contingency tables and Fisher exact test were used the significance level was α = 0.05. Results: 155 women with BC, OC and BC/OC were studied. 40 BRCA1 / 2 mutations were identified. No differences were found in the age of diagnosis between patients with and without BRCA1/2 mutations. A significant association was found between VP in BRCA1/2 and the type of cancer (p = 0.003); all cases with BC/OC presented mutations in BRCA1/2. No significant association was found between mutated/non-mutated and personal history, family background, and ER-PR-HER2. 23.1% and 38.1% of BC cases were TN in individuals with VP in BRCA 1 and 2, respectively. The prevalence of mutations was 25.8% and the prevalence of novel PV was 10.0%. Conclusions: Patients with BC-VP BRCA1/2 are associated with ductal histology, and younger age of presentation with VP BRCA1. We did not find significant differences in the age at diagnosis of BC between patients with BRCA1 and BRCA2 mutations, a higher proportion of BC TN is observed than in the general population. In our sample, the prevalence of BRCA1/2 mutations among patients who meet criteria for HBOC is 25.8%, with 10% new pathogenic variant. |
| publisher |
Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología |
| publishDate |
2022 |
| url |
https://revistas.unc.edu.ar/index.php/med/article/view/34533 |
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I10-R327-article-345332022-09-29T15:08:29Z Clinical characteristics of patients with Breast and / or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, Argentina Características clínicas de pacientes con Cáncer de Mama y / o Cáncer de Ovario con mutaciones en los genes BRCA1 y BRCA2 en Córdoba, Argentina Características clínicas de pacientes com câncer de mama e / ou câncer de ovário com mutações nos genes BRCA1 Martin, Claudia Alejandra Suárez Villasmil, Lourdes Sembaj, Adela Gomez Balangione, Fabian Zunino, Silvia Montes, Cecilia del Carmen Borello, Adriana Del Castillo, Andres Zeballos, Maximiliano Rossi, Norma Teresa genes brca1 genes brca2 breast neoplasms ovarian neoplasms genes brca1 genes brca2 neoplasias de la mama neoplasias ováricas genes brca1 genes brca2 neoplasias da mama neoplasias ovarianas Introduction: Hereditary predisposition syndromes to cancer represent 5-10% of cancer cases, the most studied being HBOC produced by mutations in the BRCA1/2 genes. Objectives: To describe clinical, histopathological and PV characteristics in patients with HBOC in Córdoba, Argentina and compare it with those without BRCA1/2 mutations. Methods: Cross-sectional, correlational and observational analysis of patients from Córdoba. The ANOVA, Student's t test contingency tables and Fisher exact test were used the significance level was α = 0.05. Results: 155 women with BC, OC and BC/OC were studied. 40 BRCA1 / 2 mutations were identified. No differences were found in the age of diagnosis between patients with and without BRCA1/2 mutations. A significant association was found between VP in BRCA1/2 and the type of cancer (p = 0.003); all cases with BC/OC presented mutations in BRCA1/2. No significant association was found between mutated/non-mutated and personal history, family background, and ER-PR-HER2. 23.1% and 38.1% of BC cases were TN in individuals with VP in BRCA 1 and 2, respectively. The prevalence of mutations was 25.8% and the prevalence of novel PV was 10.0%. Conclusions: Patients with BC-VP BRCA1/2 are associated with ductal histology, and younger age of presentation with VP BRCA1. We did not find significant differences in the age at diagnosis of BC between patients with BRCA1 and BRCA2 mutations, a higher proportion of BC TN is observed than in the general population. In our sample, the prevalence of BRCA1/2 mutations among patients who meet criteria for HBOC is 25.8%, with 10% new pathogenic variant. Introducción: Los síndromes de predisposición hereditaria al cáncer representan un 5-10% de los casos de cáncer, el más estudiado es HBOC producido por mutaciones en los genes BRCA1/2. Objetivos: Describir características clínicas, histopatológicas y VP en pacientes con HBOC en Córdoba, Argentina y compararla con aquellas sin mutaciones en BRCA1/2. Métodos: Análisis transversal, correlacional y observacional de pacientes de Córdoba. Se utilizó la prueba ANOVA, t de Student, tablas de contingencia y prueba exacta de Fisher, el nivel de significancia fue α=0,05. Resultados: Se estudiaron 155 mujeres con CM, CO y CM/CO. Se identificaron 40 mutaciones en BRCA1/2. No se encontraron diferencias en edad de diagnóstico entre pacientes con y sin mutaciones en BRCA1/2. Se encontró asociación significativa entre VP en BRCA1/2 y el tipo de cáncer (p=0,003); todos los casos con CM/CO presentaron mutaciones en BRCA1/2. No se encontró asociación significativa entre mutados/no mutados y AP, AF, RE-RP-HER2. El 23.1% y 38.1% de los casos de CM fueron TN en individuos con VP en BRCA 1 y 2 respectivamente. La prevalencia de mutaciones fue 25,8% y la prevalencia de VP noveles del 10,0%. Conclusiones: Las pacientes con CM-VP BRCA1/2 están asociadas con histología ductal, y menor edad de presentación con VP BRCA1. No encontramos diferencias significativas en edad de diagnóstico del CM entre pacientes con mutaciones BRCA1 y BRCA2, se observa una mayor proporción CM TN que en la población en general. En nuestra muestra, la prevalencia de mutaciones en BRCA1/2 entre los pacientes que reúnen criterios para HBOC es del 25,8%, con 10% de VP noveles. Introdução: As síndromes de predisposição hereditária ao câncer representam 5-10% dos casos de câncer, sendo o mais estudado o HBOC produzido por mutações nos genes BRCA1/2. Objetivos: Descrever as características clínicas, histopatológicas e de PV em pacientes com HBOC em Córdoba, Argentina e compará-las com aqueles sem mutações BRCA1/2. Métodos: Análise transversal, correlacional e observacional de pacientes cordobeses. Foram utilizados os testes ANOVA, t de Student tabelas de contingência e teste exato de Fisher; o nível de significância foi α = 0,05. Resultados: foram estudadas 155 mulheres com MC, CO e MC / CO. 40 mutações BRCA1 / 2 foram identificadas. Não foram encontradas diferenças na idade do diagnóstico entre os pacientes com e sem mutações BRCA1 / 2. Foi encontrada associação significativa entre VP em BRCA1 / 2 e o tipo de câncer (p = 0,003); todos os casos com CM / CO apresentaram mutações em BRCA1 / 2. Nenhuma associação significativa foi encontrada entre mutado / não mutado e AP, AF, RE-RP-HER2. 23,1% e 38,1% dos casos de BC foram TN em indivíduos com VP em BRCA 1 e 2, respectivamente. A prevalência de mutações foi de 25,8% e a prevalência de PV novo foi de 10,0%. Conclusões: Pacientes com CM-VP BRCA1/2 estão associados à histologia ductal e idade mais jovem de apresentação com VP BRCA1. Não encontramos diferenças significativas na idade ao diagnóstico de MC entre os pacientes com mutações BRCA1 e BRCA2, uma proporção maior de MC TN é observada do que na população em geral. Em nossa amostra, a prevalência de mutações BRCA1 / 2 entre pacientes que atendem aos critérios para HBOC é de 25,8%, com 10% de novos PV. Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2022-09-16 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion application/pdf text/html https://revistas.unc.edu.ar/index.php/med/article/view/34533 10.31053/1853.0605.v79.n3.34533 Revista de la Facultad de Ciencias Médicas de Córdoba.; Vol. 79 No. 3 (2022); 228-234 Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 79 Núm. 3 (2022); 228-234 Revista da Faculdade de Ciências Médicas de Córdoba; v. 79 n. 3 (2022); 228-234 1853-0605 0014-6722 10.31053/1853.0605.v79.n3 spa https://revistas.unc.edu.ar/index.php/med/article/view/34533/38756 https://revistas.unc.edu.ar/index.php/med/article/view/34533/38569 Derechos de autor 2022 Universidad Nacional de Córdoba http://creativecommons.org/licenses/by-nc/4.0 |