[Breast cancer susceptibility genes]
Orland Díez1, Sara Gutiérrez-Enríquez, Teresa Ramón y Cajal
1Servicio de Genética, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Odiez@santpau.es
Medicina Clinica
|March 11, 2006
Summary
Hereditary breast cancer (BC) involves gene mutations, with BRCA1/BRCA2 accounting for less than half of predispositions. Other genes like ATM and CHEK2 may also contribute to BC susceptibility, alongside lifestyle factors.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Context:
- Hereditary breast cancer (BC) accounts for 5% of all cases, often with autosomal dominant transmission.
- BRCA1 and BRCA2 mutations explain less than 50% of hereditary breast/ovarian cancer predispositions.
- A significant portion of hereditary BC families lack identified BRCA1/BRCA2 mutations, suggesting other genetic factors.
Purpose:
- To review identified breast cancer (BC) susceptibility genes.
- To highlight the role of genes beyond BRCA1/BRCA2 in hereditary BC.
- To discuss the potential contribution of ATM and CHEK2 genes to BC risk.
Summary:
- Germline mutations in BRCA1/BRCA2 are key in hereditary breast cancer (BC), but do not explain all familial cases.
- ATM gene mutations are linked to BC predisposition, with heterozygotes potentially causing up to 5% of BC cases due to population frequency.
- The CHEK2 gene 1100delC mutation is identified as a low-penetrance allele associated with BC susceptibility.
Impact:
- Identifies potential genetic targets for BC risk assessment beyond BRCA1/BRCA2.
- Emphasizes the complex genetic architecture of hereditary breast cancer.
- Provides a foundation for further research into novel BC susceptibility genes and their interaction with environmental factors.
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