Correlation between clonal mosaicism and HR+/HER2- breast cancer

• Grant number: 23/12702-1
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: March 01, 2024
• End date: February 28, 2026
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Leandro Machado Colli
• Grantee: Lívia Luiza Pinaso
• Host Institution: Faculdade de Medicina de Ribeirão Preto (FMRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil
• Associated research grant: 20/10960-5 - Renal cancer genetic susceptibility, AP.JP

Abstract

Introduction: Breast cancer is currently the second cause of death in women in Brazil. Due to its relevance as a public health problem, identification of risk factors, including genetic alterations, may impact prevention, diagnosis and treatment of breast cancer. Among these, clonal mosaicism, defined as the presence of new cellular clones of somatic origin, has been studied in several tumors for its impact on overall survival. Few studies have evaluated clonal mosaicism in mixed populations, such as Brazil, and its impacts. Objective: Correlate clonal mosaicism with clinical and laboratory characteristics of women with RH+/HER2- breast cancer.Methodology: Array genotyping data (GSA, Illumina) from 1,000 women with breast cancer and 3,000 controls will be used to identify somatic mosaic, using the MochA software. Additionally, genetic ancestry and the presence of germline pathological variants will be evaluated. Clinical and laboratory data will be correlated with somatic mosaicism.Expected results: Understanding the effect of somatic mosaicism on HR+/HER2- breast cancer.