# Melanoma familiar

> Página oficial: https://raras.org/doenca/melanoma-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**: 618 — https://www.orpha.net/en/disease/detail/618
- **CID-10**: C43.5
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

O melanoma familiar (FM) é uma forma hereditária rara de melanoma caracterizada pelo desenvolvimento de melanoma confirmado histologicamente em dois parentes de primeiro grau ou mais parentes em uma família afetada.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant, Multigenic/multifactorial

## Sinais e sintomas (12 fenótipos HPO)

- **Pele seca** — HPO: HP:0000958 (Frequente (79-30%))
- **Sardas** — HPO: HP:0001480 (Frequente (79-30%))
- **Neoplasia da mama** — HPO: HP:0100013 (Ocasional (29-5%))
- **Anormalidade do cabelo** — HPO: HP:0001595 (Frequente (79-30%))
- **Retinopatia** — HPO: HP:0000488 (Ocasional (29-5%))
- **Neoplasia do pâncreas** — HPO: HP:0002894 (Ocasional (29-5%))
- **Melanoma** — HPO: HP:0002861 (Muito frequente (99-80%))
- **Neoplasia do estômago** — HPO: HP:0006753 (Ocasional (29-5%))
- **Anormalidade da função motora extrapiramidal** — HPO: HP:0002071 (Ocasional (29-5%))
- **Nevo** — HPO: HP:0003764 (Muito frequente (99-80%))
- **Anormalidade do sistema linfático** — HPO: HP:0100763 (Frequente (79-30%))
- **Melanoma uveal** — HPO: HP:0007716

## Genes associados (11)

- **BAP1** — Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 [Major susceptibility factor in]
  - Função: Plays a role in coupling actin fibers to cell junctions in endothelial cells, via its interaction with AMOTL2 and CDH5 (By similarity). May regulate acid-induced ASIC3 currents by modulating its expre
- **CDKN2B** — Cyclin-dependent kinase 4 inhibitor B [Candidate gene tested in]
  - Função: Interacts strongly with CDK4 and CDK6. Potent inhibitor. Potential effector of TGF-beta induced cell cycle arrest
- **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
- **ACD** — Adrenocortical dysplasia protein homolog [Major susceptibility factor in]
  - Função: Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomera
- **MC1R** — Melanocyte-stimulating hormone receptor [Major susceptibility factor in]
  - Função: G protein-coupled receptor that binds melanocyte-stimulating hormones (alpha, beta, and gamma-MSH) and adrenocorticotropic hormone/ACTH, which are peptide products of the POMC precursor protein (PubMe
- **MITF** — Microphthalmia-associated transcription factor [Major susceptibility factor in]
  - Função: Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Bi
- **TERT** — Telomerase reverse transcriptase [Major susceptibility factor in]
  - Função: Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somati
- **POT1** — Protection of telomeres protein 1 [Major susceptibility factor in]
  - Função: Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which
- **TERF2IP** — Telomeric repeat-binding factor 2-interacting protein 1 [Major susceptibility factor in]
  - Função: Acts both as a regulator of telomere function and as a transcription regulator. Involved in the regulation of telomere length and protection as a component of the shelterin complex (telosome). In cont
- **CDK4** — Cyclin-dependent kinase 4 [Major susceptibility factor in]
  - Função: Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transi
- **MGMT** — Methylated-DNA--protein-cysteine methyltransferase [Major susceptibility factor in]
  - Função: Involved in the cellular defense against the biological effects of O6-methylguanine (O6-MeG) and O4-methylthymine (O4-MeT) in DNA. Repairs the methylated nucleobase in DNA by stoichiometrically transf

## Ensaios clínicos ativos (2)

- **NCT06767332** [RECRUITING]: EMDR for Fear of Cancer Recurrence in Patients with Familial Melanoma: a Waiting List Control Trial — https://clinicaltrials.gov/study/NCT06767332
- **NCT07005297** [NOT_YET_RECRUITING]: Clinical Genetics Branch Eligibility Screening Survey — https://clinicaltrials.gov/study/NCT07005297
- **NCT00339404** [COMPLETED]: Genetic Analysis of Familial Melanoma — https://clinicaltrials.gov/study/NCT00339404

## Doenças relacionadas (por similaridade fenotípica)

- [NÃO RARA NA EUROPA: Melanoma](https://raras.org/doenca/nao-rara-na-europa-melanoma) — ORPHA:411533 — 12 sintomas em comum
- [Complexo de Carney](https://raras.org/doenca/complexo-de-carney) — ORPHA:1359 — 5 sintomas em comum
- [Complexo xeroderma pigmentoso/síndrome de Cockayne](https://raras.org/doenca/complexo-xeroderma-pigmentososindrome-de-cockayne) — ORPHA:220295 — 4 sintomas em comum
- [Xeroderma pigmentoso](https://raras.org/doenca/xeroderma-pigmentoso) — ORPHA:910 — 4 sintomas em comum
- [Síndrome de microcefalia-linfedema-coriorretinopatia](https://raras.org/doenca/sindrome-de-microcefalia-linfedema-coriorretinopatia) — ORPHA:2526 — 3 sintomas em comum
- [Albinismo oculocutâneo](https://raras.org/doenca/albinismo-oculocutaneo) — ORPHA:55 — 3 sintomas em comum
- [Síndrome Sjögren-Larsson](https://raras.org/doenca/sindrome-sjogren-larsson) — ORPHA:816 — 3 sintomas em comum
- [Síndrome Noonan com lentigos múltiplos](https://raras.org/doenca/sindrome-noonan-com-lentigos-multiplos) — ORPHA:500 — 3 sintomas em comum
- [Disqueratose congênita](https://raras.org/doenca/disqueratose-congenita) — ORPHA:1775 — 3 sintomas em comum
- [Hipertricose](https://raras.org/doenca/hipertricose) — ORPHA:79365 — 3 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 — Melanoma familiar. Disponível em: https://raras.org/doenca/melanoma-familiar
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