Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation
Título del documento: Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation
Revista: Genetics and molecular biology
Base de datos: PERIÓDICA
Número de sistema: 000396121
ISSN: 1415-4757
Autores: 1
1
1
1
2
1
Instituciones: 1A.C. Camargo Cancer Center, Sao Paulo. Brasil
2A.C. Camargo Cancer Center, Departamento de Oncogenetica, Sao Paulo. Brasil
Año:
Periodo: Jun
Volumen: 39
Número: 2
Paginación: 199-202
País: Brasil
Idioma: Inglés
Tipo de documento: Artículo
Enfoque: Caso clínico
Resumen en inglés Germline TP53 mutations are associated with Li-Fraumeni syndrome (LFS), a disease that predisposes carriers to a wide variety of early onset tumors. In southern and southeastern Brazil, a high frequency of a germline TP53 mutation, p.R337H, was diagnosed in 0,3% of the population due to a founder effect. Carriers are at risk for developing cancer but the penetrance is lower than in typical DNA binding domain mutations. To date, only a few families were detected and diagnosis of carriers remains a challenge. Therefore, the inclusion of additional criteria to detect p.R337H carriers is necessary for the Brazilian population. We assessed the A.C. Camargo Cancer Center Oncogenetics Department database in search of common characteristics associated with p.R337H families that did not fulfill LFS/LFL clinical criteria. Among 42 p.R337H families, three did not meet any LFS/LFL criteria. All cases were young female patients with breast cancer diagnosed before age 45 and with no family history of LFS linked-cancers. Our results suggest that screening for the germline TP53 p.R337H mutation should be indicated, along with BRCA1 and BRCA2 genetic testing, for this group of patients, especially in the South and Southeast of Brazil
Disciplinas: Medicina,
Biología
Palabras clave: Diagnóstico,
Oncología,
Genética,
Cáncer,
Mama,
Síndrome de Li-Fraumeni,
Mutaciones
Keyword: Medicine,
Biology,
Diagnosis,
Oncology,
Genetics,
Breast,
Li-Fraumeni syndrome,
Cancer,
Mutations
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