Determination of somatic and germline mutations in young patients with breast cancer
| Grant number: | 11/09572-1 |
| Support type: | Scholarships in Brazil - Doctorate |
| Effective date (Start): | August 01, 2012 |
| Effective date (End): | March 31, 2015 |
| Field of knowledge: | Health Sciences - Medicine |
| Principal Investigator: | Maria Aparecida Azevedo Koike Folgueira |
| Grantee: | Giselly Encinas Zanetti |
| Home Institution: | Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil |
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. | |
| Articles published in Agência FAPESP about the scholarship:Nonhereditary mutations are the main cause of breast cancer in younger women | |