# Síndrome Lynch

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

## Identificadores

- **ORPHA**: 144 — https://www.orpha.net/en/disease/detail/144
- **CID-10**: C18.2
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Forma rara de cancro do cólon hereditário não polipóide (HNPCC) caracterizada pela predisposição para uma grande variedade de cancros, incluindo neoplasias do trato digestivo, trato urinário, endométrio, ovário, cérebro e próstata, bem como tumores cutâneos sebáceos. Os tumores associados à SL são tipicamente caracterizados pela presença de instabilidade de microssatélites (MSI) e perda de expressão de proteínas mis match repair (MMR) no tecido tumoral.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant

## Sinais e sintomas (64 fenótipos HPO)

- **Neoplasia renal** — HPO: HP:0009726 (Ocasional (29-5%))
- **Polipose colônica adenomatosa** — HPO: HP:0005227
- **Carcinoma colorretal não poliposo hereditário** — HPO: HP:0006716
- **Carcinoma laríngeo** — HPO: HP:0012118 (Ocasional (29-5%))
- **Neoplasia do sistema esquelético** — HPO: HP:0010622 (Ocasional (29-5%))
- **Fadiga** — HPO: HP:0012378 (Muito frequente (99-80%))
- **Carcinoma basocelular** — HPO: HP:0002671 (Ocasional (29-5%))
- **Glioblastoma multiforme** — HPO: HP:0012174 (Muito frequente (99-80%))
- **Constipação** — HPO: HP:0002019 (Muito frequente (99-80%))
- **Hemorragia gastrointestinal** — HPO: HP:0002239 (Muito frequente (99-80%))
- **Transtorno do déficit de atenção com hiperatividade** — HPO: HP:0007018 (Frequente (79-30%))
- **Deficiência visual** — HPO: HP:0000505 (Ocasional (29-5%))
- **Hipertonia** — HPO: HP:0001276 (Frequente (79-30%))
- **Câncer de cólon** — HPO: HP:0003003 (Frequente (79-30%))
- **Perda de peso** — HPO: HP:0001824 (Muito frequente (99-80%))
- **Neoplasia de glândula salivar** — HPO: HP:0100684 (Ocasional (29-5%))
- **Aumento da pressão intracraniana** — HPO: HP:0002516 (Frequente (79-30%))
- **Parestesia** — HPO: HP:0003401 (Ocasional (29-5%))
- **Sinal piramidal anormal** — HPO: HP:0007256 (Ocasional (29-5%))
- **Comportamento atípico** — HPO: HP:0000708 (Frequente (79-30%))
- **Má absorção** — HPO: HP:0002024 (Muito frequente (99-80%))
- **Neoplasia do pâncreas** — HPO: HP:0002894 (Ocasional (29-5%))
- **Comprometimento da memória** — HPO: HP:0002354 (Ocasional (29-5%))
- **Disartria** — HPO: HP:0001260 (Ocasional (29-5%))
- **Morte no início da idade adulta** — HPO: HP:0100613
- **Náusea e vômito** — HPO: HP:0002017 (Frequente (79-30%))
- **Adenoma sebáceo** — HPO: HP:0009720 (Muito frequente (99-80%))
- **Neoplasia ovariana** — HPO: HP:0100615 (Ocasional (29-5%))
- **Depressão** — HPO: HP:0000716 (Frequente (79-30%))
- **Neoplasia do reto** — HPO: HP:0100743 (Frequente (79-30%))
- **Convulsão** — HPO: HP:0001250 (Frequente (79-30%))
- **Neoplasia do fígado** — HPO: HP:0002896 (Ocasional (29-5%))
- **Defeito do campo visual** — HPO: HP:0001123 (Ocasional (29-5%))
- **Neuroblastoma** — HPO: HP:0003006 (Ocasional (29-5%))
- **Neoplasia benigna do sistema nervoso central** — HPO: HP:0100835 (Ocasional (29-5%))
- **Hipotonia** — HPO: HP:0001252 (Frequente (79-30%))
- **Morte na infância** — HPO: HP:0001522
- **Neoplasia hematológica** — HPO: HP:0004377 (Ocasional (29-5%))
- **Adenocarcinoma pancreático** — HPO: HP:0006725 (Ocasional (29-5%))
- **Carcinoma de mama** — HPO: HP:0003002 (Ocasional (29-5%))
- _...e mais 24 sintomas. Ver https://raras.org/doenca/sindrome-lynch._

## Genes associados (9)

- **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
- **MSH2** — DNA mismatch repair protein Msh2 [Disease-causing germline mutation(s) in]
  - Função: Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismat
- **KRAS** — GTPase KRas [Biomarker 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).
- **TGFBR2** — TGF-beta receptor type-2 [Candidate gene tested in]
  - Função: Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transdu
- **PMS2** — Mismatch repair endonuclease PMS2 [Disease-causing germline mutation(s) in]
  - Função: Component of the post-replicative DNA mismatch repair system (MMR) (PubMed:30653781, PubMed:35189042). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) o
- **MLH1** — DNA mismatch repair protein Mlh1 [Disease-causing germline mutation(s) in]
  - Função: Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding t
- **PMS1** — PMS1 protein homolog 1 [Candidate gene tested in]
  - Função: Probably involved in the repair of mismatches in DNA
- **PIK3CA** — Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform [Biomarker tested in]
  - Função: Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396, PubMed:
- **MSH6** — DNA mismatch repair protein Msh6 [Disease-causing germline mutation(s) in]
  - Função: Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha be

## Ensaios clínicos ativos (32)

- **NCT07163403** [RECRUITING]: First in Human Pilot Study to Assess the Safety and Efficacy of Dendritic Cells Loaded With Frameshift Derived Neopeptides for the Prevention of Cancer in of Lynch Syndrome Carriers — https://clinicaltrials.gov/study/NCT07163403
- **NCT07472686** [RECRUITING]: Small Bowel Capsule Endoscopy in Lynch Syndrome — https://clinicaltrials.gov/study/NCT07472686
- **NCT07450612** [RECRUITING]: Liquid Biopsy and Machine Learning for Early Colorectal Cancer, Adenomas, Lynch Cancers, and Residual Disease Detection — https://clinicaltrials.gov/study/NCT07450612
- **NCT07220239** [RECRUITING]: Menstrual Cup for Early Endometrial Cancer Detection in Lynch Syndrome — https://clinicaltrials.gov/study/NCT07220239
- **NCT03050268** [RECRUITING]: Familial Investigations of Childhood Cancer Predisposition — https://clinicaltrials.gov/study/NCT03050268
- **NCT04494945** [RECRUITING]: Identifying and Caring for Individuals With Inherited Cancer Syndrome — https://clinicaltrials.gov/study/NCT04494945
- **NCT02012699** [RECRUITING]: Integrated Cancer Repository for Cancer Research — https://clinicaltrials.gov/study/NCT02012699
- **NCT07219537** [RECRUITING]: A Study for Imaging the Lower Gastrointestinal Tract Using a Retro-TCE Capsule — https://clinicaltrials.gov/study/NCT07219537
- **NCT03702309** [RECRUITING]: Liquid Biopsy Evaluation and Repository Development at Princess Margaret — https://clinicaltrials.gov/study/NCT03702309
- **NCT06218433** [RECRUITING]: Urothelial Cancer Screening in Individuals With Lynch Syndrome Using a Urine Tumor DNA Panel (LS-URO Study) — https://clinicaltrials.gov/study/NCT06218433

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- [Câncer colorretal hereditário sem polipose](https://raras.org/doenca/cancer-colorretal-hereditario-sem-polipose) — ORPHA:443909 — 62 sintomas em comum
- [NÃO RARA NA EUROPA: Câncer colorretal](https://raras.org/doenca/nao-rara-na-europa-cancer-colorretal) — ORPHA:466667 — 62 sintomas em comum
- [Câncer colorretal familiar, tipo X](https://raras.org/doenca/cancer-colorretal-familiar-tipo-x) — ORPHA:440437 — 48 sintomas em comum
- [Síndrome distonia-plus](https://raras.org/doenca/sindrome-distonia-plus) — ORPHA:98203 — 16 sintomas em comum
- [Tumor endócrino enteropancreático](https://raras.org/doenca/tumor-endocrino-enteropancreatico) — ORPHA:100092 — 16 sintomas em comum
- [Doença de Behçet](https://raras.org/doenca/doenca-de-behcet) — ORPHA:117 — 16 sintomas em comum
- [Síndrome neurológico paraneoplásico](https://raras.org/doenca/sindrome-neurologico-paraneoplasico) — ORPHA:36388 — 16 sintomas em comum
- [Porfiria hepática](https://raras.org/doenca/porfiria-hepatica) — ORPHA:659694 — 15 sintomas em comum
- [Neoplasia neuroendócrina do pâncreas](https://raras.org/doenca/506052) — ORPHA:506052 — 14 sintomas em comum
- [Lipofuscinose ceroide neuronal](https://raras.org/doenca/lipofuscinose-ceroide-neuronal) — ORPHA:216 — 14 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 — Síndrome Lynch. Disponível em: https://raras.org/doenca/sindrome-lynch
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