The R337H mutation in TP53 and breast cancer in Brazil

We undertook this study to evaluate the frequency of the R337H mutation in breast cancer patients from Rio de Janeiro, Brazil. R337H mutation status was determined in 390 unselected breast cases and 324 controls identified from clinics in Rio de Janeiro, Brazil using a PCR-based assay.Two of the breast cancer cases (0.5%) and none of the controls carried the mutation. Both cases had an early age at diagnosis (< 40 years old) and a family history of breast and other cancers.These data suggest genetic screening of young onset breast cancer patients should include testing for the R337H mutation.Germline mutations in p53 are associated with Li-Fraumeni Syndrome which is characterized by childhood cancers and early onset breast cancer [1]. The spectrum of tumors includes soft tissue sarcomas, osteosarcomas, breast cancers and pediatric adrenal cortical carcinomas. It has been reported that the incidence of pediatric adrenal cortical carcinomas in southern Brazil is 10-15 times higher that the incidence in the United States [2]. Studies by Ribeiro et al. have shown that the majority of adrenal cortical carcinoma cases in southern Brazil are attributed to one specific germ-line point mutation in exon 10 at codon 337 (CGC → CAC) of TP53 resulting in an arginine-to-histidine amino acid substitution (R337H) [3].Initially, it was believed that this mutation did not confer an increased risk of developing additional cancers [4]; however, various groups have suggested that this mutation also increases the risk of breast cancer in women living in southern Brazil [5-8]. Given that Li-Fraumeni syndrome patients display higher than normal rates of breast cancer, we undertook this study to evaluate the frequency of the R337H mutation in a case-control study of breast cancer conducted in Rio de Janeiro, Brazil.The study was conducted in Rio de Janeiro, Brazil between February 2003 and September 2005. In Brazil, patients with breast cancer are treated for in both public and private sett