# NÃO RARA NA EUROPA: Câncer colorretal

> Página oficial: https://raras.org/doenca/nao-rara-na-europa-cancer-colorretal
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 466667 — https://www.orpha.net/en/disease/detail/466667
- **OMIM**: OMIM:114500 — https://omim.org/entry/114500

## Descrição clínica

Neoplasia maligna primária ou metastática que afeta o cólon ou o reto. Exemplos representativos incluem carcinoma, linfoma e sarcoma.

## Epidemiologia e herança


## Sinais e sintomas (117 fenótipos HPO)

- **Neoplasia uterina** — HPO: HP:0010784
- **Herança autossômica dominante** — HPO: HP:0000006
- **HP:0001442** — HPO: HP:0001442
- **Carcinoma de células escamosas do canal anal** — HPO: HP:0030438
- **Prolapso retal** — HPO: HP:0002035
- **Fadiga crônica** — HPO: HP:0012432
- **Úlcera cutânea** — HPO: HP:0200042
- **Adenocarcinoma do canal anal** — HPO: HP:0030439
- **Sangramento intestinal** — HPO: HP:0002584
- **Neoplasia do pulmão** — HPO: HP:0100526
- **Estenose anal** — HPO: HP:0002025
- **Papiloma** — HPO: HP:0012740
- **Ausência de ruídos hidroaéreos** — HPO: HP:0030145
- **Urgência intestinal** — HPO: HP:0012701
- **Palpitações** — HPO: HP:0001962
- **Diarreia sanguinolenta** — HPO: HP:0025085
- **Tenesmo** — HPO: HP:0012702
- **Concentração elevada de transaminase hepática circulante** — HPO: HP:0002910
- **Hematoquezia** — HPO: HP:0002573
- **Melena** — HPO: HP:0002249
- **Tumor carcinoide pulmonar atípico** — HPO: HP:0030446
- **Sons intestinais hipoativos** — HPO: HP:0030144
- **Morfologia anormal da cúspide da valva pulmonar** — HPO: HP:0031566
- **Telangiectasia facial** — HPO: HP:0007380
- **Regurgitação tricúspide** — HPO: HP:0005180
- **Aumento da serotonina sérica** — HPO: HP:0003144
- **Anorexia** — HPO: HP:0002039
- **Hipotensão** — HPO: HP:0002615
- **Tumor carcinoide** — HPO: HP:0100570
- **Broncoconstrição** — HPO: HP:4000007
- **Neoplasia do fígado** — HPO: HP:0002896
- **Neoplasia da pele** — HPO: HP:0008069
- **Neoplasia de glândula salivar** — HPO: HP:0100684
- **Polipose intestinal** — HPO: HP:0200008
- **Neoplasia hematológica** — HPO: HP:0004377
- **Hepatomegalia** — HPO: HP:0002240
- **Diarreia prolongada** — HPO: HP:0004385
- **Insuficiência ventricular direita** — HPO: HP:0001708
- **Linfadenopatia crônica não infecciosa** — HPO: HP:0002730
- **Neoplasia do estômago** — HPO: HP:0006753
- _...e mais 77 sintomas. Ver https://raras.org/doenca/nao-rara-na-europa-cancer-colorretal._

## Genes associados (45)

- **EPCAM** — Epithelial cell adhesion molecule [Disease-causing germline mutation(s) in]
  - Função: May act as a physical homophilic interaction molecule between intestinal epithelial cells (IECs) and intraepithelial lymphocytes (IELs) at the mucosal epithelium for providing immunological barrier as
- **AURKA** — Aurora kinase A [Candidate gene tested in]
  - Função: Mitotic serine/threonine kinase that contributes to the regulation of cell cycle progression (PubMed:11039908, PubMed:12390251, PubMed:17125279, PubMed:17360485, PubMed:18615013, PubMed:26246606). Ass
- **PLA2G2A** — Phospholipase A2, membrane associated [Candidate gene tested in]
  - Função: Secretory calcium-dependent phospholipase A2 that primarily targets extracellular phospholipids with implications in host antimicrobial defense, inflammatory response and tissue regeneration (PubMed:1
- **TP53** — Cellular tumor antigen p53 [Candidate gene tested in]
  - Função: Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775
- **TLR2** — Toll-like receptor 2 [Candidate gene tested in]
  - Função: Cooperates with LY96 to mediate the innate immune response to bacterial lipoproteins and other microbial cell wall components. Cooperates with TLR1 or TLR6 to mediate the innate immune response to bac
- **CCND1** — G1/S-specific cyclin-D1 [Candidate gene tested in]
  - Função: Regulatory component of the cyclin D1-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S tran
- **KRAS** — GTPase KRas [Candidate gene tested in]
  - Função: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:20949621, PubMed:39809765). Plays an important role in the regulation of cell proliferation (PubMed:22711838, PubMed:23698361).
- **PMS1** — PMS1 protein homolog 1 [Candidate gene tested in]
  - Função: Probably involved in the repair of mismatches in DNA
- **POLE** — DNA polymerase epsilon catalytic subunit A [Candidate gene tested in]
  - Função: Catalytic component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in chromosomal DNA replication (By similarity). Required during synthesis of the leading DNA strands at the re
- **POLD1** — DNA polymerase delta catalytic subunit [Candidate gene tested in]
  - Função: As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including
- **CHEK2** — Serine/threonine-protein kinase Chk2 [Candidate gene tested in]
  - Função: Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also ne
- **RPS20** — Small ribosomal subunit protein uS10 [Candidate gene tested in]
  - Função: Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399)
- **SEMA4A** — Semaphorin-4A [Candidate gene tested in]
  - Função: Cell surface receptor for PLXNB1, PLXNB2, PLXNB3 and PLXND1 that plays an important role in cell-cell signaling (By similarity). Regulates glutamatergic and GABAergic synapse development (By similarit
- **BMPR1A** — Bone morphogenetic protein receptor type-1A [Candidate gene tested in]
  - Função: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autopho
- **BRCA2** — Breast cancer type 2 susceptibility protein [Candidate gene tested in]
  - Função: Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by

## Medicamentos em desenvolvimento (9)

- BEVACIZUMAB — Fase Phase 4 (Vascular endothelial growth factor A inhibitor)
- AFLIBERCEPT — Fase Phase 4 (Vascular endothelial growth factor A inhibitor)
- TIPIRACIL HYDROCHLORIDE — Fase Phase 4 (Thymidine phosphorylase inhibitor)
- CETUXIMAB — Fase Phase 4 (Epidermal growth factor receptor erbB1 inhibitor)
- PANITUMUMAB — Fase Phase 4 (Epidermal growth factor receptor erbB1 inhibitor)
- TUCATINIB — Fase Phase 4 (Receptor protein-tyrosine kinase erbB-2 inhibitor)
- REGORAFENIB — Fase Phase 4 (Fibroblast growth factor receptor 1 inhibitor)
- FRUQUINTINIB — Fase Phase 4 (Vascular endothelial growth factor receptor inhibitor)
- CAPECITABINE — Fase Phase 4 (Thymidylate synthase inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0005575

## Doenças relacionadas (por similaridade fenotípica)

- [Câncer colorretal hereditário sem polipose](https://raras.org/doenca/cancer-colorretal-hereditario-sem-polipose) — ORPHA:443909 — 72 sintomas em comum
- [Síndrome Lynch](https://raras.org/doenca/sindrome-lynch) — ORPHA:144 — 62 sintomas em comum
- [Câncer colorretal familiar, tipo X](https://raras.org/doenca/cancer-colorretal-familiar-tipo-x) — ORPHA:440437 — 53 sintomas em comum
- [Tumor endócrino enteropancreático](https://raras.org/doenca/tumor-endocrino-enteropancreatico) — ORPHA:100092 — 44 sintomas em comum
- [Carcinoma do canal anal](https://raras.org/doenca/424013) — ORPHA:424013 — 40 sintomas em comum
- [Tumor epitelial do canal anal](https://raras.org/doenca/424010) — ORPHA:424010 — 39 sintomas em comum
- [Tumor endócrino retal](https://raras.org/doenca/tumor-endocrino-retal) — ORPHA:100081 — 25 sintomas em comum
- [Tumor pancreático endócrino](https://raras.org/doenca/tumor-pancreatico-endocrino) — ORPHA:97253 — 25 sintomas em comum
- [Tumor endócrino do cólon](https://raras.org/doenca/tumor-endocrino-do-colon) — ORPHA:100080 — 25 sintomas em comum
- [Neoplasia neuroendócrina do pâncreas](https://raras.org/doenca/506052) — ORPHA:506052 — 25 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — NÃO RARA NA EUROPA: Câncer colorretal. Disponível em: https://raras.org/doenca/nao-rara-na-europa-cancer-colorretal
**Formato HTML**: https://raras.org/doenca/nao-rara-na-europa-cancer-colorretal
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=466667