Breast cancer susceptibility genes
Jan Lubinski1, Marcin Korzen, Bohdan Gorski
1Pomeranian Medical University, Department of Genetics and Pathology, International Hereditary Cancer Center, Szczecin, Poland.
Summary
Genetic factors significantly influence cancer development in Poland. Studies reveal high genetic homogeneity for BRCA1 mutations and other cancer risk genes, suggesting a strong constitutional basis for all malignancies.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- In 1999, three specific BRCA1 mutations were identified as responsible for nearly 90% of germline mutations in Poland.
- This led to the establishment of large-scale, cost-effective genetic testing for BRCA1 mutations, identifying thousands of carriers.
Purpose of the Study:
- To investigate the hypothesis of genetic homogeneity in Poland for other cancer-related genes beyond BRCA1.
- To explore the genetic underpinnings of various cancers, hypothesizing a significant constitutional background for malignancy.
Main Methods:
- Large-scale genetic testing for specific BRCA1 mutations (5382insC, C61G, 4153delA).
- Analysis of genetic homogeneity for other genes associated with moderate/low breast cancer risk (e.g., BRCA2, CHEK2, CDKN2A, XPD, CYP1B1).
- Development of a marker panel for breast cancer risk assessment.
Main Results:
- Identified high genetic homogeneity for BRCA1 and other cancer risk genes in the Polish population.
- Established a panel of markers covering 92% of consecutive breast cancer cases in Poland.
- Demonstrated that genetic components play a role in all cancers, including late-onset breast cancer.
Conclusions:
- The Polish population exhibits significant genetic homogeneity for cancer predisposition genes.
- A substantial proportion of cancers, including breast cancer, have a strong genetic (constitutional) background.
- Genetic factors are implicated in the etiology of all types of cancer, warranting further investigation across different malignancies.
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