Double heterozygous mutation in RAD50 and ATM genes in a Peruvian family with five cancer types: a case report
Introduction: Cancer is the second leading cause of death worldwide, with 70% of cancer deaths occurring in low- or middle- income countries. To mitigate the mortality of this disease, it is recommended the evaluation of multiple high-penetrance genes. Methods: We used a multi-gene panel testing to...
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| Formato: | Artículo revista |
| Lenguaje: | Inglés |
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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/32795 |
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I10-R327-article-32795 |
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Universidad Nacional de Córdoba |
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I-10 |
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R-327 |
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Revista de la Facultad de Ciencias Médicas de Córdoba |
| language |
Inglés |
| format |
Artículo revista |
| topic |
breast neoplasms medical genetics genetic testing neoplasias de la mama genética médica pruebas genéticas neoplasias de mama genética médica testes genéticos |
| spellingShingle |
breast neoplasms medical genetics genetic testing neoplasias de la mama genética médica pruebas genéticas neoplasias de mama genética médica testes genéticos Sánchez Castro, Enrique Eduardo Ziegler-Rodriguez, Gonzalo Castro Mujica, María del Carmen Double heterozygous mutation in RAD50 and ATM genes in a Peruvian family with five cancer types: a case report |
| topic_facet |
breast neoplasms medical genetics genetic testing neoplasias de la mama genética médica pruebas genéticas neoplasias de mama genética médica testes genéticos |
| author |
Sánchez Castro, Enrique Eduardo Ziegler-Rodriguez, Gonzalo Castro Mujica, María del Carmen |
| author_facet |
Sánchez Castro, Enrique Eduardo Ziegler-Rodriguez, Gonzalo Castro Mujica, María del Carmen |
| author_sort |
Sánchez Castro, Enrique Eduardo |
| title |
Double heterozygous mutation in RAD50 and ATM genes in a Peruvian family with five cancer types: a case report |
| title_short |
Double heterozygous mutation in RAD50 and ATM genes in a Peruvian family with five cancer types: a case report |
| title_full |
Double heterozygous mutation in RAD50 and ATM genes in a Peruvian family with five cancer types: a case report |
| title_fullStr |
Double heterozygous mutation in RAD50 and ATM genes in a Peruvian family with five cancer types: a case report |
| title_full_unstemmed |
Double heterozygous mutation in RAD50 and ATM genes in a Peruvian family with five cancer types: a case report |
| title_sort |
double heterozygous mutation in rad50 and atm genes in a peruvian family with five cancer types: a case report |
| description |
Introduction: Cancer is the second leading cause of death worldwide, with 70% of cancer deaths occurring in low- or middle- income countries. To mitigate the mortality of this disease, it is recommended the evaluation of multiple high-penetrance genes.
Methods: We used a multi-gene panel testing to identify germline variants in a unique case of a breast cancer patient with a family history of five different neoplasm types. The patient, at the age of 50 years, was diagnosed with a high-grade cribriform ductal carcinoma in situ in her left breast.
Results: We identified two heterozygous mutations, one classified as pathogenic/likely pathogenic in RAD50 and the other classified as a variant of uncertain significance (VUS) in ATM.
Conclusion: In conclusion, the use of the multi-gene panel leads to the identification of a double heterozygous mutation in RAD50 and ATM in a breast cancer patient from a Peruvian family with several cancer types. This data helps our physician team and the patient to choose a treatment following the post-test genetic counseling. |
| 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/32795 |
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I10-R327-article-327952022-06-06T11:18:17Z Double heterozygous mutation in RAD50 and ATM genes in a Peruvian family with five cancer types: a case report Doble mutación heterocigota en genes RAD50 y ATM en una familia peruana con cinco tipos de cáncer: reporte de un caso Mutação dupla heterozigótica nos genes RAD50 e ATM em uma família peruana com cinco tipos de câncer: relato de caso Sánchez Castro, Enrique Eduardo Ziegler-Rodriguez, Gonzalo Castro Mujica, María del Carmen breast neoplasms medical genetics genetic testing neoplasias de la mama genética médica pruebas genéticas neoplasias de mama genética médica testes genéticos Introduction: Cancer is the second leading cause of death worldwide, with 70% of cancer deaths occurring in low- or middle- income countries. To mitigate the mortality of this disease, it is recommended the evaluation of multiple high-penetrance genes. Methods: We used a multi-gene panel testing to identify germline variants in a unique case of a breast cancer patient with a family history of five different neoplasm types. The patient, at the age of 50 years, was diagnosed with a high-grade cribriform ductal carcinoma in situ in her left breast. Results: We identified two heterozygous mutations, one classified as pathogenic/likely pathogenic in RAD50 and the other classified as a variant of uncertain significance (VUS) in ATM. Conclusion: In conclusion, the use of the multi-gene panel leads to the identification of a double heterozygous mutation in RAD50 and ATM in a breast cancer patient from a Peruvian family with several cancer types. This data helps our physician team and the patient to choose a treatment following the post-test genetic counseling. Introducción: El cáncer es la segunda causa principal de muerte en todo el mundo, y el 70% de las muertes por cáncer ocurren en países de ingresos bajos o medianos. Para mitigar la mortalidad de esta enfermedad, se recomienda la evaluación de múltiples genes de alta penetrancia. Métodos: Utilizamos una prueba de panel de múltiples genes para identificar variantes de la línea germinal en el caso de una paciente con cáncer de mama con antecedentes familiares de cinco tipos diferentes de neoplasias. La paciente, a la edad de 50 años, fue diagnosticada de carcinoma ductal cribiforme de alto grado in situ en su mama izquierda. Resultados: Identificamos dos mutaciones heterocigotas, una clasificada como patogénica / probablemente patogénica en RAD50 y la otra clasificada como variante de significado incierto (VUS) en ATM. Conclusión: En conclusión, el uso del panel multigénico condujo a la identificación de una doble mutación heterocigótica en RAD50 y ATM en una paciente con cáncer de mama de una familia peruana con varios tipos de cáncer. Estos datos ayudan a nuestro equipo médico y al paciente a elegir un tratamiento siguiendo el asesoramiento genético posterior a la prueba. Introdução: O câncer é a segunda principal causa de morte em todo o mundo e 70% das mortes por câncer ocorrem em países de baixa ou média renda. Para mitigar a mortalidade por esta doença, a avaliação de vários genes de alta penetrância é recomendada. Métodos: Usamos um teste de painel multigênico para identificar variantes da linha germinativa em uma paciente com câncer de mama com história familiar de cinco tipos diferentes de neoplasias. A paciente, com 50 anos de idade, foi diagnosticada com carcinoma ductal cribriforme de alto grau in situ em sua mama esquerda. Resultados: Identificamos duas mutações heterozigotas, uma classificada como patogênica / provavelmente patogênica em RAD50 e a outra classificada como variante de significância incerta (VUS) em ATM. Conclusão: Em conclusão, o uso do painel multigênico levou à identificação de uma mutação dupla heterozigótica em RAD50 e ATM em uma paciente com câncer de mama de uma família peruana com vários tipos de câncer. Esses dados auxiliam nossa equipe médica e o paciente na escolha do tratamento após o aconselhamento genético pós-teste. Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2022-03-07 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion application/pdf text/html https://revistas.unc.edu.ar/index.php/med/article/view/32795 10.31053/1853.0605.v79.n1.32795 Revista de la Facultad de Ciencias Médicas de Córdoba.; Vol. 79 No. 1 (2022); 53-56 Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 79 Núm. 1 (2022); 53-56 Revista da Faculdade de Ciências Médicas de Córdoba; v. 79 n. 1 (2022); 53-56 1853-0605 0014-6722 10.31053/1853.0605.v79.n1 eng https://revistas.unc.edu.ar/index.php/med/article/view/32795/37253 https://revistas.unc.edu.ar/index.php/med/article/view/32795/37051 Derechos de autor 2022 Universidad Nacional de Córdoba http://creativecommons.org/licenses/by-nc/4.0 |