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TP53 p.R337H Germline Variant among Women at Risk of Hereditary Breast Cancer in a Public Health System of Midwest Brazil.
Corrêa, Tatiana Strava; Asprino, Paula Fontes; de Oliveira, Eduarda Sabá Cordeiro; Leite, Ana Carolina Rathsam; Weis, Luiza; Achatz, Maria Isabel; de Oliveira, Claudiner Pereira; Sandoval, Renata Lazari; Barroso-Sousa, Romualdo.
Afiliación
  • Corrêa TS; Hospital Sírio-Libanês, Centro de Oncologia de Brasília, Brasília 71635-610, DF, Brazil.
  • Asprino PF; Instituto de Ensino e Pesquisa do Hospital Sírio Libanês, São Paulo 01308-060, SP, Brazil.
  • de Oliveira ESC; Instituto de Ensino e Pesquisa do Hospital Sírio Libanês, São Paulo 01308-060, SP, Brazil.
  • Leite ACR; Faculdade de Medicina, Universidade de Brasilia (UNB), Brasília 70910-900, DF, Brazil.
  • Weis L; Hospital Sírio-Libanês, Centro de Oncologia de Brasília, Brasília 71635-610, DF, Brazil.
  • Achatz MI; Instituto de Ensino e Pesquisa do Hospital Sírio Libanês, São Paulo 01308-060, SP, Brazil.
  • de Oliveira CP; Hospital Materno Infantil de Brasília (HMIB), Asa Sul 70203-900, DF, Brazil.
  • Sandoval RL; Instituto de Ensino e Pesquisa do Hospital Sírio Libanês, São Paulo 01308-060, SP, Brazil.
  • Barroso-Sousa R; Instituto Hospital de Base do Distrito Federal (IHB-DF), Brasília 70330-150, DF, Brazil.
Genes (Basel) ; 15(7)2024 Jul 16.
Article en En | MEDLINE | ID: mdl-39062707
ABSTRACT
Despite the high prevalence of TP53 pathogenic variants (PV) carriers in the South and Southeast regions of Brazil, germline genetic testing for hereditary breast cancer (HBC) is not available in the Brazilian public health system, and the prevalence of Li-Fraumeni syndrome (LFS) is not well established in other regions of Brazil. We assessed the occurrence of TP53 p.R337H carriers among women treated for breast cancer (BC) between January 2021 and January 2022 at public hospitals of Brasilia, DF, Brazil. A total of 180 patients who met at least one of the NCCN criteria for HBC underwent germline testing; 44.4% performed out-of-pocket germline multigene panel testing, and 55.6% were tested for the p.R337H variant by allelic discrimination PCR. The median age at BC diagnosis was 43.5 years, 93% had invasive ductal carcinoma, 50% had estrogen receptor-positive/HER2 negative tumors, and 41% and 11% were diagnosed respectively at stage III and IV. Two patients (1.11%) harbored the p.R337H variant, and cascade family testing identified 20 additional carriers. The TP53 p.R337H detection rate was lower than that reported in other studies from south/southeast Brazil. Nonetheless, identifying TP53 PV carriers through genetic testing in the Brazilian public health system could guide cancer treatment and prevention.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias de la Mama / Proteína p53 Supresora de Tumor / Mutación de Línea Germinal / Predisposición Genética a la Enfermedad Límite: Adult / Aged / Female / Humans / Middle aged País/Región como asunto: America do sul / Brasil Idioma: En Revista: Genes (Basel) Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias de la Mama / Proteína p53 Supresora de Tumor / Mutación de Línea Germinal / Predisposición Genética a la Enfermedad Límite: Adult / Aged / Female / Humans / Middle aged País/Región como asunto: America do sul / Brasil Idioma: En Revista: Genes (Basel) Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Suiza