ABSTRACT
BACKGROUND: 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. METHODS: 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). RESULTS: 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<0.0001). Mutation of BRCA1 (three mutations combined) was not associated with the risk of prostate cancer (OR=0.9; P=0.8). In a subgroup analysis, the 4153delA mutation was associated with early-onset (age ≤ 60 years) prostate cancer (OR=20.3, P=0.004). The mean follow-up was 54 months. Mortality was significantly worse for carriers of a NBS1 mutation than for non-carriers (HR=1.85; P=0.008). The 5-year survival for men with an NBS1 mutation was 49%, compared with 72% for mutation-negative cases. CONCLUSION: A mutation in NBS1 predisposes to aggressive prostate cancer. These data are relevant to the prospect of adapting personalised medicine to prostate cancer prevention and treatment.
Subject(s)
Cell Cycle Proteins/genetics , Nuclear Proteins/genetics , Prostatic Neoplasms/genetics , Prostatic Neoplasms/mortality , Adult , Aged , Aged, 80 and over , BRCA1 Protein/genetics , Biomarkers, Tumor/genetics , Checkpoint Kinase 2 , Genes, BRCA1 , Genetic Predisposition to Disease , Genotype , Humans , Kaplan-Meier Estimate , Male , Middle Aged , Mutation , Prognosis , Protein Serine-Threonine Kinases/geneticsABSTRACT
The relationships between urolithiasis, ureterolithiasis and blood groups have been analysed. The examinations of 1451 women and 1611 men confirmed the occurrence of statistical relationships of blood groups A, AB and 0 and those diseases. They did not occur in blood group B. Urolithiasis incidence rate was similar in men and women. The highest morbidity rate fell on the fourth decade of life in women and on the fifth decade in men.
Subject(s)
ABO Blood-Group System , Urinary Calculi/blood , Adolescent , Adult , Age Factors , Aged , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Poland , Risk , Sex Factors , Urinary Calculi/epidemiologyABSTRACT
The study involved 126 patients with cholelithiasis. Set of biochemical, radiological, endoscopic, and ultrasound examinations was carried out in these patients. Potential coincidence of clinical symptoms and causes of so-called postcholecystectomy syndrome was the purpose of a 1-year follow-up studies. The significance of the results are discussed.