Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation

AUTOR(ES)

Andrade, Kelvin C., Santiago, Karina M., Fortes, Fernanda P., Mambelli, Lisley I., Nóbrega, Amanda F., Achatz, Maria I.

FONTE

Genet. Mol. Biol.

DATA DE PUBLICAÇÃO

24/05/2016

RESUMO

Abstract 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.

Documentos Relacionados

• Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53
• Estresse oxidativo em indivíduos com síndrome de Li-Fraumeni-like e portadores da mutação germinativa TP53 p.R337H
• Why should surgery for early-onset strabismus be postponed?
• Espectro tumoral e alterações moleculares associadas à tumorigênese em portadores da mutação TP53 R337H
• Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer