| Grant number: | 12/12306-4 |
| Support Opportunities: | Regular Research Grants |
| Start date: | October 01, 2012 |
| End date: | September 30, 2015 |
| Field of knowledge: | Health Sciences - Medicine - Medical Clinics |
| Principal Investigator: | Maria Aparecida Azevedo Koike Folgueira |
| Grantee: | Maria Aparecida Azevedo Koike Folgueira |
| Host Institution: | Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil |
| Associated researchers: | Carlos Alberto de Bragança Pereira ; Eduardo Carneiro de Lyra ; Fátima Solange Pasini ; Maria Lucia Hirata Katayama ; Maria Mitzi Brentani ; Roger Chammas ; Rosimeire Aparecida Roela |
Abstract
Although the incidence of breast cancer occurs predominantly in postmenopausal women, approximately 2-4% of cases of cancer is diagnosed in young patients under 36 years. Breast cancer in this group of patients is poorly understood and one of the predisposing factors may be germline mutations in BRCA1 and BRCA2 genes. Another hypothesis for the appearance of breast cancer at an early age are somatic mutations in breast tissue, however this factor in young patients has not been explored. At first, we will perform a meta-analysis to identify somatic mutations associated with breast carcinogenesis. Due to the large genotypic and phenotypic variations among specific subtypes of breast cancer, our proposal is to identify germline mutations and / or somatic associated with luminal tumors in young patients with breast cancer, through the wide exome sequencing. The main changes will be validated by Sanger sequencing of tumor samples embedded in paraffin from a larger number of patients. BRCA1 and BRCA2 genes full sequencing will also be performed. Thus, this study may contribute to a better understanding of breast cancer causes in young patients and may help identifying new molecular targets with potential therapeutic use. (AU)
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