From Oncologist to Surgeon - Genetics in Colorectal Metastasis for Surgeons - Review

Sep 23, 2026

Uploaded by Eliana

Colorectal cancer (CRC) is a common disease with high incidence in Brazil, reaching 45,630 new cases per 100,000 inhabitants between 2023–2025, and substantial annual burden internationally. Risk factors span environmental and hereditary components, with presentation grouped as sporadic, inherited, and familial. Sporadic CRC forms about 70% of cases, especially after age 50, driven by dietary and environmental influences, while true hereditary predisposition is under 10% and may relate to colonic polyps. Hereditary non-polyposis disease includes HNPCC/Lynch syndrome, and polyposis disorders include FAP, MAP, and hamartomatous syndromes; these conditions confer a high cancer risk. Advances in metastatic treatment and targeted therapies with biomarkers enable evaluation in primary tumors and in the correspondence of metastases.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages4

Reading Time10 min

AccessFree to download

Introduction

Risk factors: sporadic, inherited, familial

Hereditary syndromes and polyposis disorders

Targeted therapies and biomarkers in metastatic disease

| | ABCD Arq Bras Cir Dig
2024;37:e1869
[https://doi.org/10.1590/0102-6720202400075e1869](https://doi.org/10.1590/0102-6720202400075e1869) | Review Article | | --- | --- | --- | | FROM ONCOLOGIST TO SURGEON-GENETICS IN COLORECTAL METASTASIS FOR SURGEONS
DE ONCOLOGISTA A CIRURGIÃO-GENÉTICA NA METÁSTASE COLORRETAL PARA CIRURGIÕES
Marília Polo Mingueti e SILVA1,2,3, Jorge SABBAGA1,2,3, Henry Luiz NAJMAN1,
Carlos David Carvalho NASCIMENTO3, Ricardo Lemos COTTA-PEREIRA2, João Eduardo Leal NICOLUZZI4, Maria Ignez BRAGHIROLI1,2,3 and International Hepato-Pancreato-Biliary Association.
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 asan 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., PeutzJeghers, 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.
HEADINGS: Colorectal Cancer. Genetics. Neoplasms Metastasis. | | | RESUMO – O câncer colorretal (CCR) é uma doença comum, com incidência no Brasil de 45.630 novos casos por 100.000 habitantes entre 2023–2025. Os fatores derisco para CCR podem ser avaliados entre ambientais e hereditários e seu modo de apresentação são classificados como esporádicos, hereditários e familiares. A doença esporádica é caracterizada pela ausência de histórico familiar e representa aproximadamente 70% de todos os cânceres colorretais, sendo maiscomum acima de 50 anos de idade, com fatores dietéticos e ambientais implicados em sua patogênese. A porcentagem de pacientes com uma verdadeira predisposição genética hereditária é menor que 10%, e estes estão relacionados à presença ou ausência de pólipos colônicos como uma manifestaçãoimportante da doença. Doenças não polipóticas são conhecidas como câncer colorretal hereditário não polipomatoso (HNPCC) ou síndrome de Lynch, edoenças polipóticas são polipose adenomatosa familiar (FAP), polipose associada a MUTYH (MAP) e síndromes de polipose hamartomatosa (Peutz-Jeghers, polipose juvenil, fosfatase e homólogo de tensina – PTEN, síndrome de Cowden) . Essas doenças estão ligadas a um alto risco de desenvolver câncer. Com odesenvolvimento de tratamentos em doenças metastáticas e o uso de terapias direcionadas e seus biomarcadores, foi possível avaliá-los em estudos clínicostanto no tumor primário quanto na correspondência de metástases. DESCRITORES: Cancer Coloretal. Genética. Metástase Neoplásica. [instagram.com/revistaabcd/](instagram.com/revistaabcd/) twitter.com/revista_abcd facebook.com/Revista-ABCD-109005301640367 linkedin.com/company/revista-abcd From 1D’Or Institute for Research and Educati

FAQs

What are the main categories of colorectal cancer risk factors and presentation?

Risk factors include environmental and hereditary influences. Presentation is classified as sporadic, inherited, and familial.

How common is sporadic colorectal cancer, and what characterizes it?

Sporadic disease accounts for about 70% of colorectal cancers and is defined by the absence of a family history, occurring more often after age 50 with dietary and environmental factors involved.

Which hereditary conditions are discussed, and how are they grouped?

Non-polyposis hereditary disease includes HNPCC (Lynch syndrome). Polyposis diseases include FAP, MAP, and hamartomatous polyposis syndromes such as Peutz-Jeghers, juvenile polyposis, PTEN, and Cowden syndrome.

Sep 23, 2026

Uploaded by Eliana