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

Gene

Volumn 532, Issue 2, 2013, Pages 173-176

  Antczak, Andrzej ^a   Kluźniak, Wojciech ^b   Wokołorczyk, Dominika ^b   Kashyap, Aniruddh ^b   Jakubowska, Anna ^b   Gronwald, Jacek ^b   Huzarski, Tomasz ^b   Byrski, Tomasz ^b   Deogonekbniak, Tadeusz ^b   Masojć, Bartłomiej ^b   Górski, Bohdan ^b   Gromowski, Tomasz ^b   Nagorna, Agnieszka ^b   Gołaogonekb, Adam ^b   Sikorski, Andrzej ^b   Słojewski, Marcin ^b   Gliniewicz, Bartłomiej ^b,c   Borkowski, Tomasz ^d   Borkowski, Andrzej ^d   Przybyła, Jacek ^e   Sosnowski, Marek ^e   Małkiewicz, Bartosz ^f   Zdrojowy, Romuald ^f   Sikorska Radek, Paulina ^g   Matych, Józef ^g   Wilkosz, Jacek ^e   Rózański, Waldemar ^e   Kiś, Jacek ^h   Bar, Krzysztof ^h   Domagała, Paweł ^b   Stawicka, Małgorzata ⁱ   Milecki, Piotr ^j   Akbari, Mohammad R ^k   Narod, Steven A ^k   Lubiński, Jan ^b   Cybulski, Cezary ^b   more..

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b POMERANIAN MEDICAL UNIVERSITY   (Poland)

^c Maria Sk odowska Curie Hospital   (Poland)

^d MEDICAL UNIVERSITY OF WARSAW   (Poland)

^e MEDICAL UNIVERSITY OF LODZ   (Poland)

^f WROCLAW MEDICAL UNIVERSITY   (Poland)

^g Regional Hospital   (Poland)

^h University of Lublin   (Poland)

ⁱ NZOZ Center for Medical Genetics   (Poland)

^j GREATER POLAND CANCER CENTRE   (Poland)

^k UNIVERSITY OF TORONTO   (Canada)

more..

Author keywords

BLM gene; Bloom syndrome; C.1642C>T; Prostate cancer; Q548X mutation

Indexed keywords

BLOOM SYNDROME HELICASE;

ADULT; AGED; ALLELE; ARTICLE; BLOOM SYNDROME; CANCER PROGNOSIS; CANCER RISK; CANCER SURVIVAL; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; FAMILY ASSESSMENT; FAMILY HISTORY; FIRST DEGREE RELATIVE; FOLLOW UP; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC RISK; GENOTYPE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; POLAND; PRIORITY JOURNAL; PROSTATE CANCER; SECOND DEGREE RELATIVE; SURVIVAL TIME;

BLM; BLM GENE; BLOOM SYNDROME; BLOOM SYNDROME GENE; BRCA1; BRCA1 INTERACTING PROTEIN 1 (BRCA1 INTERACTING PROTEIN C-TERMINAL HELICASE 1); BRCA2; BREAST CANCER SUSCEPTIBILITY GENE 1; BREAST CANCER SUSCEPTIBILITY GENE 2; BRIP1; C.1642C>T; CHECKPOINT KINASE 2; CHEK2; CI; CONFIDENCE INTERVAL; DEOXYRIBONUCLEIC ACID; DNA; HAZARD RATIO; HOMEOBOX B13; HOXB13; HR; NANOGRAM PER MILLILITER; NBS1; NG/ML; NIBRIN (NBN) GENE; ODDS RATIO; OR; PROSTATE CANCER; PROSTATE SPECIFIC ANTIGEN; PSA; Q548X MUTATION;

ADULT; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; PROSTATIC NEOPLASMS; RECQ HELICASES; RISK FACTORS; SURVIVAL ANALYSIS; YOUNG ADULT;

EID: 84886750929     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.09.079     Document Type: Article

References (26)

1. Castro E., et al. Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. J. Clin. Oncol. 2013, 31:1748-1757.
2. Chu W.K., Hickson I.D. RecQ helicases: multifunctional genome caretakers. Nat. Rev. Cancer 2009, 9:644-654.
3. Cybulski C., et al. NBS1 is a prostate cancer susceptibility gene. Cancer Res. 2004, 64:1215-1219.
4. Cybulski C., et al. An inherited NBN mutation is associated with poor prognosis prostate cancer. Br. J. Cancer 2013, 108:461-468.
5. Dong X., et al. Mutations in CHEK2 associated with prostate cancer risk. Am. J. Hum. Genet. 2003, 72:270-280.
6. Eeles R.A., et al. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nat. Genet. 2013, 45:385-391.
7. Ellis N.A., et al. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 1995, 83:655-666.
8. Ewing C.M., et al. Germline mutations in HOXB13 and prostate-cancer risk. N. Engl. J. Med. 2012, 366:141-149.
9. Fares F., Badarneh K., Abosaleh M., Harari-Shaham A., Diukman R., David M. Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?. Prenat. Diagn. 2008, 28:236-241.
10. Futaki M., Liu J.M. Chromosomal breakage syndromes and the BRCA1 genome surveillance complex. Trends Mol. Med. 2001, 7:560-565.
11. German J., Sanz M.M., Ciocci S., Ye T.Z., Ellis N.A. Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. Hum. Mutat. 2007, 28:743-753.
12. Goss K.H., et al. Enhanced tumor formation in mice heterozygous for Blm mutation. Science 2002, 297:2051-2053.
13. Gronwald J., et al. Population screening for cancer family syndromes in the West Pomeranian region of Poland. Hered. Cancer Clin. Pract. 2006, 4:56.
14. Gruber S.B., et al. BLM heterozygosity and the risk of colorectal cancer. Science 2002, 297:2013.
15. Kluźniak W., et al. The G84E mutation in the HOXB13 gene is associated with an increased risk of prostate cancer in Poland. Prostate 2013, 73:542-548.
16. Kote-Jarai Z., et al. A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer. Br. J. Cancer 2009, 100:426-430.
17. Kote-Jarai Z., et al. BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients. Br. J. Cancer 2011, 105:1230-1234.
18. Leongamornlert D., et al. Germline BRCA1 mutations increase prostate cancer risk. Br. J. Cancer 2012, 106:1697-1701.
19. Prokofyeva D., et al. Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. Breast Cancer Res. Treat. 2013, 137:533-539.
20. Ralf C., Hickson I.D., Wu L. The Bloom's syndrome helicase can promote the regression of a model replication fork. J. Biol. Chem. 2006, 281:22839-22846.
21. Seppälä E.H., et al. CHEK2 variants associate with hereditary prostate cancer. Br. J. Cancer 2003, 89:1966-1970.
22. Sokolenko A.P., et al. High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia. Int. J. Cancer 2012, 130:2867-2873.
23. Tikoo S., Sengupta S. Time to bloom. Genome Integr. 2010, 1:14.
24. Walsh T., King M.C. Ten genes for inherited breast cancer. Cancer Cell 2007, 11:103-105.
25. Willems A.J., et al. Loss of heterozygosity at the BRCA2 locus detected by multiplex ligation-dependent probe amplification is common in prostate cancers from men with a germline BRCA2 mutation. Clin. Cancer Res. 2008, 14:2953-2961.
26. Wu L., Hickson I.D. The Bloom's syndrome helicase suppresses crossing over during homologous recombination. Nature 2003, 426:870-874.