Breast-ovarian cancer, familial, susceptibility to, 5

Summary

Individuals with mutation in the PALB2 gene have an increased risk of developing breast or, to a lesser degree, ovarian cancer. In addition, PALB2 variants increase susceptibility to several other cancers, e.g., male breast cancer and pancreatic cancer (PNCA3; 613348) (Rahman et al., 2007; Norquist et al., 2018; Yang et al., 2020). For a discussion of genetic heterogeneity of breast-ovarian cancer susceptibility, see BROVCA1 (604370). For general discussions of breast cancer and ovarian cancer, see 114480 and 167000, respectively. Reviews Hamdan and Nowak (2023) reviewed the structure and function of the PALB2 gene, and its role in disease, including Fanconi anemia (FANCN; 610832), pancreatic cancer (PNCA3; 613348), and breast and ovarian cancer. [from OMIM]

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

PALB2
Also known as: BROVCA5, FANCN, PNCA3, PALB2
Summary: partner and localizer of BRCA2

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the breast
- Breast carcinoma
  Breast carcinoma
  - MedGen UID: 146260
  - Concept ID: C0678222
  - Finding: Neoplastic Process
  Abnormality of the breast
  See: Feature record | Search on this feature

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