FROM ONCOLOGIST TO SURGEON - GENETICS IN COLORECTAL METASTASIS FOR SURGEONS

从肿瘤科医生到外科医生——结直肠癌转移的遗传学研究(面向外科医生)

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Abstract

Colorectal cancer (CRC) is a common disease, with incidence in Brazil of 45,630 new cases per 100,000 inhabitants between 2023-2025. Risk factors for CRC can be evaluated between environmental and hereditary and their mode of presentation are classified as sporadic, inherited and familial. Sporadic disease is characterized by the absence of a family history and accounts for approximately 70% of all colorectal cancers, being more common over 50 years of age, with dietary and environmental factors implicated in its pathogenesis. Sporadic disease is characterized by the absence of a family history and accounts for approximately 70% of all colorectal cancers, being more common over 50 years of age, with dietary and environmental factors implicated in its pathogenesis. The percentage of patients with a true hereditary genetic predisposition is less than 10%, and these are related to the presence or absence of colonic polyps as an important manifestation of the disease. Non-polyposis diseases are known as hereditary non-polypomatous colorectal cancer (HNPCC) or Lynch syndrome, and polyposis diseases are familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), and hamartomatous polyposis syndromes (e.g., Peutz-Jeghers, juvenile polyposis, phosphatase and tensin homologue - PTEN, Cowden syndrome). These diseases are linked to a high risk of developing cancer. With the development of treatments in metastatic disease and the use of targeted therapies and their biomarkers, it was possible to evaluate them within clinical studies both in the primary tumor and in the correspondence of metastases.

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