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Hereditary Cancer in Clinical Practice
Published in: Hereditary Cancer in Clinical Practice 1/2012

Open Access 01-12-2012 | Research

The R337H mutation in TP53 and breast cancer in Brazil

Authors: Magda CB Gomes, Joanne Kotsopoulos, Gutemberg Leão de Almeida, Mauricio M Costa, Roberto Vieira, Firmino de AG Filho, Marcos B Pitombo, Paulo Roberto F Leal, Robert Royer, Phil Zhang, Steven A Narod

Published in: Hereditary Cancer in Clinical Practice | Issue 1/2012

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Abstract

Background

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 also be a low-penetrance breast cancer susceptibility polymorphism.

Methods

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.

Results

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.

Conclusions

These data suggest genetic screening of young onset breast cancer patients should include testing for the R337H mutation.
Appendix
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Metadata
Title
The R337H mutation in TP53 and breast cancer in Brazil
Authors
Magda CB Gomes
Joanne Kotsopoulos
Gutemberg Leão de Almeida
Mauricio M Costa
Roberto Vieira
Firmino de AG Filho
Marcos B Pitombo
Paulo Roberto F Leal
Robert Royer
Phil Zhang
Steven A Narod
Publication date
01-12-2012
Publisher
BioMed Central
Published in
Hereditary Cancer in Clinical Practice / Issue 1/2012
Electronic ISSN: 1897-4287
DOI
https://doi.org/10.1186/1897-4287-10-3

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