Silva Marília Polo Mingueti E, Sabbaga Jorge, Najman Henry Luiz, Nascimento Carlos David Carvalho, Cotta-Pereira Ricardo Lemos, Nicoluzzi João Eduardo Leal, Braghiroli Maria Ignez
D'Or Institute for Research and Education - São Paulo (SP), Brazil.
D'Or Institute for Research and Education - Rio de Janeiro (RJ), Brazil.
Arq Bras Cir Dig. 2025 Feb 10;37:e1869. doi: 10.1590/0102-6720202400075e1869. eCollection 2025.
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.
结直肠癌(CRC)是一种常见疾病,2023年至2025年间巴西每10万居民中的新发病例数为45630例。CRC的风险因素可在环境因素和遗传因素之间进行评估,其表现形式分为散发性、遗传性和家族性。散发性疾病的特征是没有家族病史,约占所有结直肠癌的70%,在50岁以上人群中更为常见,其发病机制与饮食和环境因素有关。散发性疾病的特征是没有家族病史,约占所有结直肠癌的70%,在50岁以上人群中更为常见,其发病机制与饮食和环境因素有关。真正具有遗传易感性的患者比例不到10%,这些与结肠息肉的存在与否有关,结肠息肉是该疾病的重要表现。非息肉病性疾病被称为遗传性非息肉病性结直肠癌(HNPCC)或林奇综合征,息肉病性疾病包括家族性腺瘤性息肉病(FAP)、MUTYH相关息肉病(MAP)和错构瘤性息肉病综合征(如黑斑息肉综合征、幼年性息肉病、磷酸酶和张力蛋白同源物-PTEN、考登综合征)。这些疾病与患癌高风险相关。随着转移性疾病治疗方法的发展以及靶向治疗及其生物标志物的应用,在临床研究中既可以在原发性肿瘤中也可以在转移灶中对它们进行评估。