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Analysis of 1100delC mutation in CHEK2 gene in familial Breast Cancer patients

Grant number: 05/01330-8
Support type:Scholarships in Brazil - Scientific Initiation
Effective date (Start): July 01, 2005
Effective date (End): December 31, 2006
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal researcher:Carmen Sílvia Bertuzzo
Grantee:Frederico Leal
Home Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

Breast cancer is one of the most important feminine diseases, being responsible for a great number of annual deaths of women worldwide. Understanding the genetics of this illness may be very important to set up reliable strategies of diagnostic, prevention, and medical treatment. It is estimated that 5 to 10% of all breast cancer cases are due to hereditary factors, while the other ones fit in the group of sporadically formed breast cancer occurrences. It has been found that the BRCA genes may be related to the breast cancer genesis, but only a small fraction of familial breast cancer occurrences are due to polymorphisms of these genes. Thus, it is believed that polymorphisms of Chek2 may be responsible for a significant portion of the familial breast cancer cases not related to mutations in BRCA genes Chek2 is a tumor suppressor gene apparently associated with hereditary breast cancer and some other tumors. This project will make use of the “Polimerase Chain Reaction” (PCR) method to investigate the prevalence of Chek2 mutations in patients with familial breast cancer.

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