Familial Cancer

, 8:563 | Cite as

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

  • 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. NarodEmail author


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.


Breast cancer p53 Li-Fraumeni Li-Fraumeni-like 


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Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • Ophira M. Ginsburg
    • 1
    • 2
  • Mohammad R. Akbari
    • 2
  • Zeba Aziz
    • 3
  • Robert Young
    • 4
  • Henry Lynch
    • 5
  • Parviz Ghadirian
    • 6
  • Andre Robidoux
    • 7
  • Julian Londono
    • 8
  • Gonzalo Vasquez
    • 8
  • Magda Gomes
    • 9
    • 10
  • Mauricio Magalhaes Costa
    • 11
  • Constantine Dimitrakakis
    • 12
  • Gustavo Gutierrez
    • 13
  • Robert Pilarski
    • 14
  • Robert Royer
    • 2
  • Steven A. Narod
    • 2
    Email author
  1. 1.Department of Medicine, Division of Medical OncologyUniversity of TorontoTorontoCanada
  2. 2.Women’s College Research InstituteUniversity of TorontoTorontoCanada
  3. 3.Department of Medical OncologyAllama Iqbal Medical CollegeLahorePakistan
  4. 4.Department of Obstetrics and GynecologyUniversity of South Carolina School of MedicineColumbiaUSA
  5. 5.Department of Preventive Medicine and Public HealthCreighton University School of MedicineOmahaUSA
  6. 6.Epidemiology Research Unit, Research CentreCentre hospitalier de l’Universite de Montreal (CHUM)-Hotel-DieuMontrealCanada
  7. 7.Department of SurgeryHotel-Dieu de Montreal, Universite de MontrealMontrealCanada
  8. 8.Department of Genetics, Faculty of MedicineUniversity of AntioquiaMedellinColombia
  9. 9.Department of OncologyClementino Fraga Filho University Hospital, Federal University of Rio de JaneiroRio de JaneiroBrazil
  10. 10.Antonio Pedro University Hospital, Fluminense Federal UniversityRio de JaneiroBrazil
  11. 11.Department of Obstetrics and GynecologyClementino Fraga Filho University Hospital, Federal University of Rio de JaneiroRio de JaneiroBrazil
  12. 12.Department of Gynecology and ObstetricsAlexandra Hospital, Athens Medical SchoolAthensGreece
  13. 13.School of BiologyUniversity of Costa RicaSan JoseCosta Rica
  14. 14.Clinical Cancer Genetics ProgramOhio State UniversityColumbusUSA

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