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Familial Cancer
Published in: Familial Cancer 4/2009

01-12-2009

The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30

Authors: Ophira M. Ginsburg, Mohammad R. Akbari, Zeba Aziz, Robert Young, Henry Lynch, Parviz Ghadirian, Andre Robidoux, Julian Londono, Gonzalo Vasquez, Magda Gomes, Mauricio Magalhaes Costa, Constantine Dimitrakakis, Gustavo Gutierrez, Robert Pilarski, Robert Royer, Steven A. Narod

Published in: Familial Cancer | Issue 4/2009

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Abstract

Germ-line mutations in the TP53 gene are rare, but predispose women to a range of cancer types, including early-onset breast cancer. Breast cancers in women from families with the Li-Fraumeni syndrome often occur before age 30. The prevalence of deleterious TP53 mutations in unselected women with early-onset breast cancer is not precisely known. If mutations were found to be sufficiently common, it might be prudent to offer genetic testing to affected women in this age group. We screened the entire TP53 gene in the germ-line DNA from 95 women of various ethnic groups who were diagnosed with breast cancer before age 30, and who had previously been found to be negative for BRCA1 and BRCA2 mutations. No TP53 mutation was found. This study does not support a policy that TP53 testing should be offered routinely to unselected women with early-onset breast cancer in the absence of a family history of cancer.
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Metadata
Title
The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30
Authors
Ophira M. Ginsburg
Mohammad R. Akbari
Zeba Aziz
Robert Young
Henry Lynch
Parviz Ghadirian
Andre Robidoux
Julian Londono
Gonzalo Vasquez
Magda Gomes
Mauricio Magalhaes Costa
Constantine Dimitrakakis
Gustavo Gutierrez
Robert Pilarski
Robert Royer
Steven A. Narod
Publication date
01-12-2009
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 4/2009
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-009-9287-z

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