An inherited NBN mutation is associated with poor prognosis prostate cancer

To establish the contribution of eight founder alleles in three DNA damage repair genes (BRCA1, CHEK2 and NBS1) to prostate cancer in Poland, and to measure the impact of these variants on survival among patients. Three thousand seven hundred fifty men with prostate cancer and 3956 cancer-free contr...

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Bibliographic Details
Published in:British journal of cancer 2013-02, Vol.108 (2), p.461-468
Main Authors: CYBULSKI, C, WOKOLORCZYK, D, GOLAB, A, GLINIEWICZ, B, SIKORSKI, A, SWITALA, J, BORKOWSKI, T, BORKOWSKI, A, ANTCZAK, A, WOJNAR, L, PRZYBYLA, J, SOSNOWSKI, M, KLUZNIAK, W, MALKIEWICZ, B, ZDROJOWY, R, SIKORSKA-RADEK, P, MATYCH, J, WILKOSZ, J, ROZANSKI, W, KIS, J, BAR, K, BRYNIARSKI, P, PARADYSZ, A, JAKUBOWSKA, A, JERSAK, K, NIEMIROWICZ, J, SLUPSKI, P, JARZEMSKI, P, SKRZYPCZYK, M, DOBRUCH, J, DOMAGALA, P, NAROD, S. A, LUBINSKI, J, GORSKI, B, GRONWALD, J, HUZARSKI, T, KASHYAP, A, BYRSKI, T, DEBNIAK, T
Format: Article
Language:English
Subjects:
Adult
Age
Aged
Aged, 80 and over
Biological and medical sciences
Biomarkers, Tumor - genetics
BRCA1 Protein - genetics
Cell Cycle Proteins - genetics
Checkpoint Kinase 2
DNA damage
Family medical history
Genes, BRCA1
Genetic Predisposition to Disease
Genetics & Genomics
Genotype
Humans
Kaplan-Meier Estimate
Male
Medical prognosis
Medical research
Medical sciences
Middle Aged
Mutation
Nephrology. Urinary tract diseases
Nuclear Proteins - genetics
Oncology
Polymorphism
Prognosis
Prostate cancer
Prostatic Neoplasms - genetics
Prostatic Neoplasms - mortality
Protein-Serine-Threonine Kinases - genetics
Tumors
Tumors of the urinary system
Urinary tract. Prostate gland
Urology
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Summary:To establish the contribution of eight founder alleles in three DNA damage repair genes (BRCA1, CHEK2 and NBS1) to prostate cancer in Poland, and to measure the impact of these variants on survival among patients. Three thousand seven hundred fifty men with prostate cancer and 3956 cancer-free controls were genotyped for three founder alleles in BRCA1 (5382insC, 4153delA, C61G), four alleles in CHEK2 (1100delC, IVS2+1G>A, del5395, I157T), and one allele in NBS1 (657del5). The NBS1 mutation was detected in 53 of 3750 unselected cases compared with 23 of 3956 (0.6%) controls (odds ratio (OR)=2.5; P=0.0003). A CHEK2 mutation was seen in 383 (10.2%) unselected cases and in 228 (5.8%) controls (OR=1.9; P
ISSN:0007-0920
1532-1827
DOI:10.1038/bjc.2012.486