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Gene. 2013 Dec 15;532(2):173-6. doi: 10.1016/j.gene.2013.09.079. Epub 2013 Oct 2.

A common nonsense mutation of the BLM gene and prostate cancer risk and survival.

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Chair of Urology, Poznan University of Medical Sciences, Poznan, Poland.



Germline mutations of BRCA2 and NBS1 genes cause inherited recessive chromosomal instability syndromes and predispose to prostate cancer of poor prognosis. Mutations of the BLM gene cause another chromosomal instability clinical syndrome, called Bloom syndrome. Recently, a recurrent truncating mutation of BLM (Q548X) has been associated with a 6-fold increased risk of breast cancer in Russia, Belarus and Ukraine, but its role in prostate cancer etiology and survival has not been investigated yet.


To establish whether the Q548X allele of the BLM gene is present in Poland, and whether this allele predisposes to poor prognosis prostate cancer, we genotyped 3337 men with prostate cancer and 2604 controls.


Q548X was detected in 13 of 3337 (0.4%) men with prostate cancer compared to 15 of 2604 (0.6%) controls (OR=0.7; 95% CI 0.3-1.4). A positive family history of any cancer in a first- or second-degree relative was seen only in 4 of the 13 (30%) mutation positive families, compared to 49% (1485/3001) of the non-carrier families (p=0.3). The mean follow-up was 49months. Survival was similar among carriers of Q548X and non-carriers (HR=1.1; p=0.9). The 5-year survival for men with a BLM mutation was 83%, compared to 72% for mutation-negative cases.


BLM Q548X is a common founder mutation in Poland. We found no evidence that this mutation predisposes one to prostate cancer or affect prostate cancer survival. However, based on the observed 0.6% population frequency of the Q548X allele, we estimate that one in 100,000 children should be affected by Bloom syndrome in Poland.


BLM; BLM gene; BRCA1; BRCA1 interacting protein 1 (BRCA1 interacting protein C-terminal helicase 1); BRCA2; BRIP1; Bloom syndrome; Bloom syndrome gene; CHEK2; CI; DNA; HOXB13; HR; NBS1; OR; PSA; Prostate cancer; Q548X mutation; breast cancer susceptibility gene 1; breast cancer susceptibility gene 2; c.1642C>T; checkpoint kinase 2; confidence interval; deoxyribonucleic acid; hazard ratio; homeobox B13; nanogram per milliliter; ng/ml; nibrin (NBN) gene; odds ratio; prostate specific antigen

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