Identificación de nuevos genes de susceptibilidad implicados en Cáncer de Mama familiar mediante técnicas de secuenciación masiva
Breast cancer (BC) is the second leading cancer-related death cause among women worldwide. Around 50% of the familial BC cases are reckoned to be inflicted by germline variants in known susceptibility genes, nevertheless, the other half is still of unknown genetic origin. With the raise of the Next-...
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| Formato: | tesis doctoral |
| Fecha de publicación: | 2024 |
| País: | España |
| Recursos: | Universidad Complutense de Madrid (UCM) |
| Repositorio: | Docta Complutense |
| Idioma: | español |
| OAI Identifier: | oai:docta.ucm.es:20.500.14352/110535 |
| Acesso em linha: | https://hdl.handle.net/20.500.14352/110535 |
| Access Level: | acceso abierto |
| Palavra-chave: | 611.69(043.2) Mamas Breast Cancer Ginecología y obstetricia Oncología 3201.08 Ginecología 3207.13 Oncología |
| Resumo: | Breast cancer (BC) is the second leading cancer-related death cause among women worldwide. Around 50% of the familial BC cases are reckoned to be inflicted by germline variants in known susceptibility genes, nevertheless, the other half is still of unknown genetic origin. With the raise of the Next-Generation Sequencing (NGS) technology the successful finding of the missing susceptibility genes is closer. Therefore, the major aim of this Thesis was to study a panel of 17 susceptibility candidate genes in hereditary BC through the sequencing of more than 2200 Spanish familial BC patients that had previously been tested negative for the known BC susceptibility genes (BRCAX) and uncover the most promising... |
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