# FROM ONCOLOGIST TO SURGEON - GENETICS IN COLORECTAL METASTASIS FOR SURGEONS

**Authors:** Marília Polo Mingueti e SILVA, Jorge SABBAGA, Henry Luiz NAJMAN, Carlos David Carvalho NASCIMENTO, Ricardo Lemos COTTA-PEREIRA, João Eduardo Leal NICOLUZZI, Maria Ignez BRAGHIROLI

PMC · DOI: 10.1590/0102-6720202400075e1869 · Arquivos Brasileiros de Cirurgia Digestiva : ABCD · 2025-02-10

## TL;DR

This paper discusses the role of genetics in colorectal cancer, focusing on hereditary factors and their implications for surgeons.

## Contribution

The paper provides an overview of genetic predispositions in colorectal cancer for surgeons, emphasizing hereditary conditions.

## Key findings

- Sporadic colorectal cancer accounts for 70% of cases and is more common in those over 50.
- Hereditary non-polypomatous colorectal cancer (Lynch syndrome) and polyposis diseases are linked to high cancer risk.
- Targeted therapies and biomarkers are being evaluated in clinical studies for metastatic disease.

## 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.

## Linked entities

- **Diseases:** colorectal cancer (MONDO:0005575), Lynch syndrome (MONDO:0005835), familial adenomatous polyposis (MONDO:0021055), MUTYH-associated polyposis (MONDO:0012041), juvenile polyposis (MONDO:0017380), Cowden syndrome (MONDO:0016063)

## Full-text entities

- **Genes:** PTEN (phosphatase and tensin homolog) [NCBI Gene 5728] {aka 10q23del, BZS, CWS1, DEC, GLM2, MHAM}
- **Diseases:** Lynch syndrome (MESH:D003123), CRC (MESH:D015179), Non-polyposis diseases (MESH:D044483), Sporadic disease (MESH:D020821), FROM ONCOLOGIST (OMIM:309120), metastases (MESH:D009362), Peutz-Jeghers (MESH:D010580), colonic polyps (MESH:D003111), Cowden syndrome (MESH:D006223), metastatic disease (MESH:D000092182), FAP (MESH:D011125), cancer (MESH:D009369), SURGEON - GENETICS (MESH:D030342), juvenile polyposis (MESH:C537702)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC11810113/full.md

## References

21 references — full list in the complete paper: https://tomesphere.com/paper/PMC11810113/full.md

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Source: https://tomesphere.com/paper/PMC11810113