# Síndrome de câncer de mama e/ou ovário hereditário

> Página oficial: https://raras.org/doenca/sindrome-de-cancer-de-mama-eou-ovario-hereditario
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-08

## Identificadores

- **ORPHA**: 145 — https://www.orpha.net/en/disease/detail/145
- **CID-10**: C50.9
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Patologia genética caracterizada por suscetibilidade hereditária para cancro da mama e/ou do ovário. Pode ser definida utilizando critérios de história familiar ou através da identificação de variantes patogénicas germinativas (VPGs) em genes clinicamente validados para CMOH. No entanto, a base genética de cerca de metade dos casos de CMOH clínico é atualmente desconhecida ou inexplicada por variantes em gene único e aproximadamente metade dos indivíduos que têm VPs em genes de CMOH não têm antecedentes familiares sugestivos.

## Epidemiologia e herança

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

## Sinais e sintomas (7 fenótipos HPO)

- **Anormalidade da tuba uterina** — HPO: HP:0011027 (Muito frequente (99-80%))
- **Neoplasia ovariana** — HPO: HP:0100615 (Muito frequente (99-80%))
- **Neoplasia do pâncreas** — HPO: HP:0002894 (Ocasional (29-5%))
- **Carcinoma de mama** — HPO: HP:0003002 (Frequente (79-30%))
- **Carcinoma peritoneal primário** — HPO: HP:0030406 (Muito frequente (99-80%))
- **Melanoma** — HPO: HP:0002861 (Ocasional (29-5%))
- **Câncer de próstata** — HPO: HP:0012125 (Ocasional (29-5%))

## Genes associados (15)

- **MRE11** — Double-strand break repair protein MRE11 [Candidate gene tested in]
  - Função: Core component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:11741547, PubMed:14657032, P
- **BRCA2** — Breast cancer type 2 susceptibility protein [Disease-causing germline mutation(s) (loss of function) 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
- **BRCA1** — Breast cancer type 1 susceptibility protein [Disease-causing germline mutation(s) (loss of function) 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
- **PALB2** — Partner and localizer of BRCA2 [Candidate gene tested 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:
- **RAD51C** — DNA repair protein RAD51 homolog 3 [Disease-causing germline mutation(s) in]
  - Função: Essential for the homologous recombination (HR) pathway of DNA repair. Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or ind
- **BARD1** — BRCA1-associated RING domain protein 1 [Candidate gene tested in]
  - Função: E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA dam
- **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
- **RAD51** — DNA repair protein RAD51 homolog 1 [Candidate gene tested in]
  - Função: Plays an important role in homologous strand exchange, a key step in DNA repair through homologous recombination (HR) (PubMed:12205100, PubMed:18417535, PubMed:20231364, PubMed:20348101, PubMed:223253
- **NBN** — Nibrin [Candidate gene tested in]
  - Função: Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:10888888, PubMed:15616588, PubMed
- **RAD50** — DNA repair protein RAD50 [Candidate gene tested in]
  - Função: Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:15064416, PubMed:21757780, PubMed
- **PTEN** — Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN [Candidate gene tested in]
  - Função: Dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins (PubMed:9187108, PubMed:9256433, PubMed:9616126). Also functions as a lipid phosphatase
- **RAD51D** — DNA repair protein RAD51 homolog 4 [Disease-causing germline mutation(s) in]
  - Função: Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Bind to single-stranded DNA (ssDNA) and ha
- **BRIP1** — Fanconi anemia group J protein [Candidate gene tested in]
  - Função: DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of chromosomal stability (PubMed:11301010, PubMed:14983014, PubMed:16116421, PubMed:16153896, PubMed:17596542, PubMed:36608669)
- **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
- **ATM** — Serine-protein kinase ATM [Major susceptibility factor in]
  - Função: Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a

## Ensaios clínicos ativos (5)

- **NCT02194387** [ACTIVE_NOT_RECRUITING]: Energy Balance Interventions in Increasing Physical Activity in Breast Cancer Gene Positive Patients, Lynch Syndrome-Positive Patients, CLL Survivors or High-Risk Family Members — https://clinicaltrials.gov/study/NCT02194387
- **NCT02653105** [ACTIVE_NOT_RECRUITING]: Women at Risk of Breast Cancer and OLFM4 — https://clinicaltrials.gov/study/NCT02653105
- **NCT07039552** [RECRUITING]: Development and Validation of an Ovarian Cancer Risk Prediction Model for Family Members of Ovarian Cancer Probands — https://clinicaltrials.gov/study/NCT07039552
- **NCT00673335** [COMPLETED]: Letrozole in Preventing Breast Cancer in Postmenopausal Women With a BRCA1 or BRCA2 Mutation — https://clinicaltrials.gov/study/NCT00673335
- **NCT03329950** [COMPLETED]: A Study of CDX-1140 (CD40) as Monotherapy or in Combination in Patients With Advanced Malignancies — https://clinicaltrials.gov/study/NCT03329950

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome neurológico paraneoplásico](https://raras.org/doenca/sindrome-neurologico-paraneoplasico) — ORPHA:36388 — 5 sintomas em comum
- [Síndrome Li-Fraumeni](https://raras.org/doenca/sindrome-li-fraumeni) — ORPHA:524 — 5 sintomas em comum
- [Síndrome com polipose hiperplástica](https://raras.org/doenca/sindrome-com-polipose-hiperplastica) — ORPHA:157798 — 4 sintomas em comum
- [Carcinoma pancreático familiar](https://raras.org/doenca/carcinoma-pancreatico-familiar) — ORPHA:1333 — 3 sintomas em comum
- [Síndrome Werner](https://raras.org/doenca/sindrome-werner) — ORPHA:902 — 3 sintomas em comum
- [Câncer colorretal hereditário sem polipose](https://raras.org/doenca/cancer-colorretal-hereditario-sem-polipose) — ORPHA:443909 — 3 sintomas em comum
- [Tumor tireoidiano raro](https://raras.org/doenca/tumor-tireoidiano-raro) — ORPHA:100087 — 3 sintomas em comum
- [Carcinoma da tireoide raro](https://raras.org/doenca/carcinoma-da-tireoide-raro) — ORPHA:100088 — 3 sintomas em comum
- [NÃO RARA NA EUROPA: Câncer colorretal](https://raras.org/doenca/nao-rara-na-europa-cancer-colorretal) — ORPHA:466667 — 3 sintomas em comum
- [Carcinoma da tireoide não-medular familiar](https://raras.org/doenca/carcinoma-da-tireoide-nao-medular-familiar) — ORPHA:319494 — 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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