Tumor subclonal reconstruction in breast cancer with brain metastasis

• Grant number: 22/11820-8
• Support Opportunities: Scholarships abroad - Research Internship - Doctorate
• Start date: February 15, 2023
• End date: August 14, 2023
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Márcia Maria Chiquitelli Marques Silveira
• Grantee: Muriele Bertagna Varuzza
• Supervisor: Paul C. Boutros
• Host Institution: Hospital do Câncer de Barretos. Fundação Pio XII (FP). Barretos , SP, Brazil
• Institution abroad: University of California, Los Angeles (UCLA), United States
• Associated to the scholarship: 20/07773-9 - Identification of the genetic-molecular profile of Breast Cancer with metastasis to the brain associated with a tumor progression model, BP.DR

Abstract

Breast neoplasms are the main cause of cancer mortality among women, corresponding to 25% of new cases each year. When diagnosed at an early stage, it has an overall five-year survival rate of up to 90%. However, in more advanced stages, survival is reduced to about 24%, with 90% of women in stage IV dying as a result of complications related to metastases. A common site of metastases from this neoplasm is the brain and the average life span after its onset, without a therapeutic approach, is 4 weeks. When treatment options are available, only 20% of patients survive more than 1 year. Considering that the brain is an unfavorable prognostic site, and the identification of the genetic-molecular profile in the primary tumor and in the metastatic site is a subject poorly described in the literature, we understand that to characterize the tumor subclonal structure of breast cancer with metastasis to the brain is extremely necessary. This study aims to identify the genetic-molecular profile of samples from the primary tumor and metastasis to the brain. As brain metastasis is clinically aggressive, the identification of this genetic profile may contribute to the elucidation of the genetic-molecular mechanisms associated with a model of tumor progression of breast cancer with brain metastasis, and it may be target of relevant clinical applications in the future, whether in screening patients or elucidating new therapeutic targets. (AU)