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Germline BLM mutations and metastatic prostate cancer
Elisa M Ledet1, Emmanuel S Antonarakis2, William B Isaacs3
1Tulane Cancer Center, New Orleans, Louisiana.
The Prostate
|December 10, 2019
Summary
Heterozygous BLM mutations are more common in metastatic prostate cancer patients than in the general population, suggesting a potential link to cancer risk. Some BLM carriers also showed BRCA2 mutations in their tumors.
Area of Science:
- Genetics
- Oncology
Background:
- Biallelic loss-of-function mutations in the BLM gene cause Bloom syndrome, a disorder linked to growth issues, photosensitivity, and cancer susceptibility.
- The cancer risk associated with heterozygous BLM mutations is debated, though evidence suggests impaired BLM function may increase chromosomal instability.
Purpose of the Study:
- To investigate the prevalence of heterozygous BLM mutations in patients with metastatic prostate cancer.
- To explore the potential association between BLM mutations and prostate cancer risk.
Main Methods:
- Germline genetic testing was performed on 796 metastatic prostate cancer patients.
- BLM mutation carriers had their tumor tissue analyzed for somatic alterations.
- Control data were obtained from the Genome Aggregation Database (gnomAD).
Main Results:
- Heterozygous BLM mutations were found in 0.63% of metastatic prostate cancer patients, a significantly higher prevalence (RR=3.4) than in controls (0.18%).
- All identified BLM mutations were loss-of-function truncating variants.
- Three out of five BLM mutation carriers exhibited bi-allelic BRCA2 inactivation in their tumors.
Conclusions:
- Truncating BLM germline mutations are more frequent in advanced prostate cancer patients compared to control populations.
- While no biallelic BLM loss was observed, a notable proportion of BLM heterozygotes presented with pathogenic BRCA2 mutations in their tumors.
