Abstract
BackgroundGermline mutations in p53 are associated with the Li-Fraumeni Syndrome which is characterized by childhood cancers, including pediatric adrenal cortical carcinomas and early onset breast cancer. The high incidence of adrenal cortical carcinomas in southern Brazil is mostly attributed to the R337H mutation in TP53. The relatively high population frequency of this mutation in southern Brazil, along with the clustering of early onset breast cancer in Li-Frameni families, suggests this mutation may also be a low-penetrance breast cancer susceptibility polymorphism.MethodsWe 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.ResultsTwo 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.ConclusionsThese data suggest genetic screening of young onset breast cancer patients should include testing for the R337H mutation.
Highlights
Germline mutations in p53 are associated with the Li-Fraumeni Syndrome which is characterized by childhood cancers, including pediatric adrenal cortical carcinomas and early onset breast cancer
Germline mutations in p53 are associated with Li-Fraumeni Syndrome which is characterized by childhood cancers and early onset breast cancer [1]
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]
Summary
Germline mutations in p53 are associated with Li-Fraumeni Syndrome which is characterized by childhood cancers and early onset breast cancer [1]. 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]. Germline mutations in p53 are associated with the Li-Fraumeni Syndrome which is characterized by childhood cancers, including pediatric adrenal cortical carcinomas and early onset breast cancer. The high incidence of adrenal cortical carcinomas in southern Brazil is mostly attributed to the R337H mutation in TP53. The relatively high population frequency of this mutation in southern Brazil, along with the clustering of early onset breast cancer in Li-Frameni families, suggests this mutation may be a low-penetrance breast cancer susceptibility polymorphism
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