Only 5% of breast cancers are linked to BRCA1/2 mutations, while the role of tumor suppressor gene methylation in familial cases remains unclear.
A study examined CpG island promoter methylation in 109 high-risk women, revealing that methylation frequency increased with age, but specific methylation events were not age-related.
Women without BRCA1/2 mutations showed significantly higher levels of methylation compared to those with mutations, indicating a potential link between methylation of tumor suppressor genes and non-BRCA1/2 familial breast cancer.
The study investigates the role of p16(INK4a) in cell cycle regulation and its absence in human mammary epithelial cells, which may lead to increased risk of breast cancer through various dysfunctions and DNA methylation changes.
Researchers tested for hypermethylation of the INK4a/ARF promoter in breast tissue samples from 86 asymptomatic women at high risk for breast cancer, alongside evaluating correlation with other methylation markers.
Results showed that INK4a/ARF promoter hypermethylation occurs in early stages of neoplasia and normal cells, indicating a potential indicator of broader methylation issues in breast cancer risk, rather than being solely an age-related change.