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Determination of the spectrum and frequency of germline mutations in Cancer predisposing genes in patients with Pancreatic Cancer

Grant number: 18/04712-9
Support type:Scholarships in Brazil - Doctorate (Direct)
Effective date (Start): June 01, 2018
Effective date (End): March 31, 2022
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Maria Aparecida Azevedo Koike Folgueira
Grantee:Lívia Munhoz Rodrigues
Home Institution: Instituto do Câncer do Estado de São Paulo Octavio Frias de Oliveira (ICESP). Coordenadoria de Serviços de Saúde (CSS). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil

Abstract

Pancreatic Cancer has the lowest survival rate in 5 years (8%) among all types of Cancer and is expected to become the second leading cause of Cancer death by 2030. In this scenario, we propose to evaluate the frequency and the spectrum of germline mutations in genes predisposing to Cancer in patients with Pancreatic Cancer; (ii) investigate lifestyle and family history; and (iii) develop a gene panel to identify the eligible population for imaging tests for early detection, since this is still the best alternative to achieve effective treatment and a significant increase in patient survival. In order to do so, we will recruit 200 patients diagnosed with pancreatic carcinoma under follow-up at the Cancer Institute of the State of São Paulo who will be invited to participate in the independent study of the disease stage, family history, age, sex or treatment performed or in realization. These patients will respond to a questionnaire about lifestyle habits and family history and will give a 15ml sample of blood for sequencing with a commercial panel of 94 genes involved in the predisposition and development of Cancer as well as genes whose mutation in Pancreatic Cancer have already been proven in literature. It is hoped to find changes to be deposited in public databases and that contribute to the understanding of the mechanisms of predisposition to this disease, to advance in early diagnoses and to the development of personalized treatments. (AU)