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 - Medical Clinics
• Principal researcher: 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.

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)

NAGY, TAUANA RODRIGUES; MAISTRO, SIMONE; ENCINAS, GISELLY; HIRATA KATAYAMA, MARIA LUCIA; DE LIMA PEREIRA, GLAUCIA FERNANDA; GABURO-JUNIOR, NELSON; MOYSES FRANCO, LUCAS AUGUSTO; RIBEIRO CHAVES DE GOUVEA, ANA CAROLINA; ESTEVEZ DIZ, MARIA DEL PILAR; SENNA LEITE, LUIZ ANTONIO; et al. Germline and Somatic mutations in postmenopausal breast cancer patients. Clinics, v. 76, 2021. (12/12306-4, 11/09572-1)

MAISTRO, SIMONE; TEIXEIRA, NATALIA; ENCINAS, GISELLY; HIRATA KATAYAMA, MARIA LUCIA; TAVARES NIEWIADONSKI, VIVIAN DIONISIO; CABRAL, LARISSA GARCIA; RIBEIRO, ROBERTO MARQUES; GABURO JUNIOR, NELSON; RIBEIRO CHAVES DE GOUVEA, ANA CAROLINA; CARRARO, DIRCE MARIA; et al. Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil. BMC CANCER, v. 16, DEC 3 2016. (11/09572-1)

ENCINAS, GISELLY; MAISTRO, SIMONE; PASINI, FATIMA SOLANGE; HIRATA KATAYAMA, MARIA LUCIA; BRENTANI, MARIA MITZI; DE BOCK, GEERTRUIDA HENDRIKA; AZEVEDO KOIKE FOLGUEIRA, MARIA APARECIDA. Mutações somáticas em pacientes jovens com câncer de mama e epitelial de ovário: revisão e metanálise. Revista da Associação Médica Brasileira, v. 61, n. 5, p. 474-483, SEP-OCT 2015. (12/12306-4, 11/09572-1)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

ZANETTI, Giselly Encinas. Somatic and germline mutations in young patients with breast cancer. 2015. Doctoral Thesis - Universidade de São Paulo (USP). Faculdade de Medicina (FM/SBD) São Paulo.