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BRCA2 mutation in Icelandic prostate cancer patients
S Sigurdsson1, S Thorlacius, J Tomasson
1Molecular and Cell Biology Research Laboratory, Icelandic Cancer Society, Reykjavik.
Journal of Molecular Medicine (Berlin, Germany)
|December 31, 1997
Summary
A specific BRCA2 gene mutation is linked to increased prostate cancer risk in Iceland. This mutation is associated with advanced disease and poor prognosis in affected individuals.
Area of Science:
- Oncology
- Genetics
- Epidemiology
Background:
- Molecular genetic analysis is crucial for identifying prostate cancer markers.
- The BRCA2 gene is linked to breast cancer; a founder mutation exists in Iceland.
- Prostate cancer clusters in Icelandic BRCA2 families suggest increased risk for carriers.
Purpose of the Study:
- Investigate the BRCA2 founder mutation in Icelandic prostate cancer patients.
- Determine the mutation's prevalence in unselected prostate cancer cases.
- Assess the mutation's role as a prognostic marker for prostate cancer.
Main Methods:
- Analyzed prostate cancer cases from 16 BRCA2-positive breast cancer families.
- Examined samples from unselected Icelandic prostate cancer patients.
- Calculated prostate cancer risk ratios for relatives of BRCA2 probands.
Main Results:
- Prostate cancer risk was elevated in relatives of BRCA2 probands (RR 4.6 for first-degree, 2.5 for second-degree).
- 8 of 12 (66.7%) prostate cancer cases in BRCA2 families carried the mutation; all had advanced disease and died from it.
- The BRCA2 mutation was found in 3.1% of unselected prostate cancer cases, also associated with advanced disease.
Conclusions:
- The specific Icelandic BRCA2 founder mutation is present in a subset of prostate cancer patients.
- This mutation serves as a marker for aggressive prostate cancer and poor prognosis.
- Genetic screening for this mutation may aid in identifying high-risk individuals for early intervention.