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Determination of Somatic and Germline Mutations in Young Patients with Breast Cancer

Grant number: 12/12306-4
Support type:Regular Research Grants
Duration: October 01, 2012 - September 30, 2015
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal researcher:Maria Aparecida Azevedo Koike Folgueira
Grantee:Maria Aparecida Azevedo Koike Folgueira
Home Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
Assoc. 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


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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Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
ENCINAS, GISELLY; MAISTRO, SIMONE; PASINI, FATIMA SOLANGE; HIRATA KATAYAMA, MARIA LUCIA; BRENTANI, MARIA MITZI; DE BOCK, GEERTRUIDA HENDRIKA; AZEVEDO KOIKE FOLGUEIRA, MARIA APARECIDA. Somatic mutations in breast and serous ovarian cancer young patients: a systematic review and meta-analysis. Revista da Associação Médica Brasileira, v. 61, n. 5, p. 474-483, SEP-OCT 2015. Web of Science Citations: 7.

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