# Carcinoma pancreático familiar

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

## Identificadores

- **ORPHA**: 1333 — https://www.orpha.net/en/disease/detail/1333
- **CID-10**: C25
- **OMIM**: OMIM:260350 — https://omim.org/entry/260350

## Descrição clínica

O carcinoma pancreático familiar é definido pela presença de cancro pancreático (PC) em dois ou mais parentes de primeiro grau.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 1 000 000
- **Padrão de herança**: Autosomal dominant, Multigenic/multifactorial

## Sinais e sintomas (29 fenótipos HPO)

- **Diarreia intermitente** — HPO: HP:0002254 (Ocasional (29-5%))
- **Icterícia** — HPO: HP:0000952 (Frequente (79-30%))
- **Perda de peso** — HPO: HP:0001824 (Muito frequente (99-80%))
- **Obstrução intestinal funcional** — HPO: HP:0005249 (Frequente (79-30%))
- **Dor abdominal** — HPO: HP:0002027 (Muito frequente (99-80%))
- **Colestase extra-hepática** — HPO: HP:0012334 (Frequente (79-30%))
- **Diabetes mellitus** — HPO: HP:0000819 (Ocasional (29-5%))
- **Pseudo-obstrução intestinal** — HPO: HP:0004389 (Frequente (79-30%))
- **Fadiga crônica** — HPO: HP:0012432 (Muito frequente (99-80%))
- **Carcinoma ovariano** — HPO: HP:0025318 (Ocasional (29-5%))
- **Melanoma** — HPO: HP:0002861 (Ocasional (29-5%))
- **Carcinoma de mama** — HPO: HP:0003002 (Ocasional (29-5%))
- **Hepatoesplenomegalia** — HPO: HP:0001433 (Ocasional (29-5%))
- **Abscesso peritoneal** — HPO: HP:0100592 (Ocasional (29-5%))
- **Insuficiência pancreática exócrina** — HPO: HP:0001738 (Muito frequente (99-80%))
- **Concentração elevada de transaminase hepática circulante** — HPO: HP:0002910 (Ocasional (29-5%))
- **Linfadenopatia** — HPO: HP:0002716 (Frequente (79-30%))
- **Adenocarcinoma pancreático** — HPO: HP:0006725
- **Dor nas costas** — HPO: HP:0003418 (Muito frequente (99-80%))
- **Anorexia** — HPO: HP:0002039 (Muito frequente (99-80%))
- **Neoplasia do fígado** — HPO: HP:0002896 (Ocasional (29-5%))
- **Apetite pobre** — HPO: HP:0004396 (Muito frequente (99-80%))
- **Náusea e vômito** — HPO: HP:0002017 (Ocasional (29-5%))
- **Câncer de cólon** — HPO: HP:0003003 (Ocasional (29-5%))
- **Neoplasia do pâncreas** — HPO: HP:0002894
- **Aumento do nível de L-fucose na urina** — HPO: HP:0410067
- **Herança autossômica dominante** — HPO: HP:0000006
- **HP:0001442** — HPO: HP:0001442
- **Início na idade adulta** — HPO: HP:0003581

## Genes associados (11)

- **PALB2** — Partner and localizer of BRCA2 [Major susceptibility factor in]
  - Função: Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks (PubMed:16793542, PubMed:19369211, PubMed:19423707, PubMed:22941656, PubMed:
- **BRCA2** — Breast cancer type 2 susceptibility protein [Major susceptibility factor 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
- **RABL3** — Rab-like protein 3 [Disease-causing germline mutation(s) in]
  - Função: Small GTPase required for KRAS signaling regulation and modulation of cell proliferation (PubMed:31406347). Regulator of KRAS prenylation, and probably prenylation of other small GTPases (PubMed:31406
- **TP53** — Cellular tumor antigen p53 [Major susceptibility factor 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
- **SMAD4** — SMAD family member 4 [Major susceptibility factor in]
  - Função: In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 rele
- **CDKN2A** — Cyclin-dependent kinase inhibitor 2A [Major susceptibility factor in]
  - Função: Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblas
- **KRAS** — GTPase KRas [Major susceptibility factor 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).
- **BRCA1** — Breast cancer type 1 susceptibility protein [Major susceptibility factor in]
  - Função: E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage (Pub
- **PALLD** — Palladin [Major susceptibility factor in]
  - Função: Cytoskeletal protein required for organization of normal actin cytoskeleton. Roles in establishing cell morphology, motility, cell adhesion and cell-extracellular matrix interactions in a variety of c
- **ACVR1B** — Activin receptor type-1B [Disease-causing germline mutation(s) in]
  - Função: Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface t
- **STK11** — Serine/threonine-protein kinase STK11 [Disease-causing germline mutation(s) in]
  - Função: Tumor suppressor serine/threonine-protein kinase that controls the activity of AMP-activated protein kinase (AMPK) family members, thereby playing a role in various processes such as cell metabolism,

## Ensaios clínicos ativos (7)

- **NCT04104230** [RECRUITING]: Quebec Pancreas Cancer Study — https://clinicaltrials.gov/study/NCT04104230
- **NCT04743479** [RECRUITING]: Artificial Intelligence-based Early Screening of Pancreatic Cancer and High Risk Tracing (ESPRIT-AI) — https://clinicaltrials.gov/study/NCT04743479
- **NCT04095195** [RECRUITING]: Registry of Subjects at Risk of Pancreatic Cancer — https://clinicaltrials.gov/study/NCT04095195
- **NCT00835133** [ACTIVE_NOT_RECRUITING]: Collecting Blood and Tissue Samples From Family Members of Patients With Pancreatic Diseases, Pancreatic Cancer, and Melanoma — https://clinicaltrials.gov/study/NCT00835133
- **NCT04247503** [ACTIVE_NOT_RECRUITING]: Cohort Study of Pancreatic Cancer Risk — https://clinicaltrials.gov/study/NCT04247503
- **NCT02206360** [ACTIVE_NOT_RECRUITING]: Pancreatic Cancer Early Detection Program — https://clinicaltrials.gov/study/NCT02206360
- **NCT06760741** [NOT_YET_RECRUITING]: PREVENPANC Project: a Spanish Multicenter Study for Pancreatic Cancer Prevention — https://clinicaltrials.gov/study/NCT06760741
- **NCT02070705** [TERMINATED]: DCE MRI in Patients With Pancreatic Cancer — https://clinicaltrials.gov/study/NCT02070705
- **NCT02560896** [COMPLETED]: Understanding Genetic Incidental Findings in Your Family (UNIFY Study) — https://clinicaltrials.gov/study/NCT02560896
- **NCT05305001** [COMPLETED]: Germline Mutations Associated With Hereditary Pancreatic Cancer in Unselected Patients With Pancreatic Cancer in Mexico — https://clinicaltrials.gov/study/NCT05305001

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- [Tumor endócrino enteropancreático](https://raras.org/doenca/tumor-endocrino-enteropancreatico) — ORPHA:100092 — 14 sintomas em comum
- [NÃO RARA NA EUROPA: Câncer colorretal](https://raras.org/doenca/nao-rara-na-europa-cancer-colorretal) — ORPHA:466667 — 14 sintomas em comum
- [Carcinoma do fígado e trato biliar intra-hepático](https://raras.org/doenca/424936) — ORPHA:424936 — 10 sintomas em comum
- [Tumor pancreático endócrino](https://raras.org/doenca/tumor-pancreatico-endocrino) — ORPHA:97253 — 9 sintomas em comum
- [VIPoma](https://raras.org/doenca/vipoma) — ORPHA:97282 — 9 sintomas em comum
- [Síndrome neurológico paraneoplásico](https://raras.org/doenca/sindrome-neurologico-paraneoplasico) — ORPHA:36388 — 9 sintomas em comum
- [Neoplasia neuroendócrina do pâncreas](https://raras.org/doenca/506052) — ORPHA:506052 — 9 sintomas em comum
- [Sarcoma de tecidos moles](https://raras.org/doenca/sarcoma-de-tecidos-moles) — ORPHA:3394 — 9 sintomas em comum
- [Febre Q](https://raras.org/doenca/781) — ORPHA:781 — 8 sintomas em comum
- [Tumor relacionado com vírus Epstein-Barr](https://raras.org/doenca/tumor-relacionado-com-virus-epstein-barr) — ORPHA:289638 — 8 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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