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Cezary Cybulski,
Bohdan Górski,
Jacek Gronwald,
Tomasz Huzarski,
Tomasz Byrski,
Tadeusz Debniak,
Anna Jakubowska,
Dominika Wokołorczyk,
Bartłomiej Gliniewicz,
Andrzej Sikorski, [......],
Krzysztof Bar, Robert Klijer,
Zdrojowy Romuald,
Bartosz Małkiewicz,
Andrzej Borkowski,
Tomasz Borkowski,
Marek Szwiec,
Michal Posmyk,
Steven A Narod,
Jan Lubiński
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ABSTRACT: Evidence to date that BRCA1 mutation carriers are at an increased risk of prostate cancer is mixed - both positive and negative studies have been published. To establish whether or not inherited variation in BRCA1 influences prostate cancer risk we genotyped 1793 men with prostate cancer in Poland and 4570 controls for three founder mutations (C61G, 4153delA and 5382insC). A BRCA1 mutation was present in 0.45% of the cases and 0.48% of the controls (odds ratio=0.9; P=1.0). The odds ratios varied substantially by mutation. The 5382insC mutation is the most common of the three founder mutations. It was detected only in one case (0.06%), whereas it was seen in 0.37% of controls (P=0.06). In contrast, the 4153delA was more common in prostate cancer cases (0.22%) than in controls (0.04%) (odds ratio=5.1; 95% confidence interval: 0.9-27.9; P=0.1). The C61G mutation was also found in excess in cases (0.17%) compared with controls (0.07%) (odds ratio=2.6; 95% confidence interval: 0.5-12.7; P=0.5). Eight men with prostate cancer carried a mutation. Only one of these carried the 5382insC mutation, compared with 17 of 22 individuals with mutations in the control population (P=0.003). These data suggest that the 5382insC mutation is unlikely to be pathogenic for prostate cancer in the Polish population. The presence of one of the other alleles was associated with an increased risk for prostate cancer (odds ratio=3.6; 95% confidence interval: 1.1-11.3; P=0.045); in particular for familial prostate cancer (odds ratio=12; 95% confidence interval: 2.9-51; P=0.0004). We consider that the risk of prostate cancer in BRCA1 carriers varies with the position of the mutation.
European Journal of Cancer Prevention 03/2008; 17(1):62-6. · 2.13 Impact Factor
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Cezary Cybulski,
Dominika Wokolorczyk,
Tomasz Huzarski,
Tomasz Byrski,
Jacek Gronwald,
Bohdan Górski,
Tadeusz Debniak,
Bartlomiej Masojc,
Anna Jakubowska,
Bartlomiej Gliniewicz, [......],
Marek Sosnowski,
Paulina Sikorska-Radek,
Krzysztof Bar, Robert Klijer,
Romuald Zdrojowy,
Bartosz Malkiewicz,
Andrzej Borkowski,
Tomasz Borkowski,
Steven Narod,
Jan Lubinski
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ABSTRACT: INTRODUCTION: Germline mutations in CHEK2 have been associated with a range of cancer types. Recently, a large deletion of exons 9 and 10 of CHEK2 was identified in several unrelated breast cancer patients of Czech or Slovak origin. The geographical and ethnic extent of this founder allele has not yet been determined. SUBJECTS: We assayed for the presence of this deletion, and of three other CHEK2 founder mutations, in 1864 prostate cancer patients and 5496 controls from Poland. RESULTS: The deletion was detected in 24 of 5496 (0.4%) controls from the general population, and is the most common CHEK2 truncating founder allele in Poland. The deletion was identified in 15 of 1864 (0.8%) men with unselected prostate cancer (OR = 1.9; 95%CI 0.97 - 3.5; p = 0.09) and in 4 of 249 men with familial prostate cancer (OR = 3.7; 95%CI 1.3 - 10.8; p = 0.03). These odds ratios were similar to those associated with the other truncating mutations (IVS2+1G>A, 1100delC). CONCLUSION: A large deletion of exons 9 and 10 of CHEK2 confers an increased risk of prostate cancer in Polish men. We expect that the del5395 founder deletion might be present in other Slavic populations, including Ukraine, Belarus, Russia, Baltic and Balkan countries. It will be of interest to see to what extend this deletion is responsible for the burden of prostate cancer in other populations.
Journal of Medical Genetics 10/2006; · 6.36 Impact Factor
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ABSTRACT: Authors present a case of 50-year-old man with penoscrotal hypospadias in whom using one-stage techniques repair urethra was reconstructed with good functional and cosmetic effect.
Wiadomości lekarskie (Warsaw, Poland: 1960) 02/2005; 58(5-6):335-7.
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ABSTRACT: To identify the difficulties in diagnosing bladder outlet obstruction in women.
53 women with a mean age of 37.2 (range 16-70) with chronic lower urinary tract symptoms and no neurogenic or organic diseases were examined. The prevalent symptoms were frequency (96%), urgency (92%) and nocturia (75%), and the mean duration of symptoms was 3.8 years. After pressure-flow studies and voiding cystourethrography were conducted, patients either underwent bladder neck or urethral incisions based on their diagnosis. These patients were subsequently subjected to follow-up uroflow studies.
Abnormal uroflow curves were observed in 19 of 53 women. In 10 of them (52.6%), bladder outlet obstruction based on pressure-flow results was confirmed. Voiding cystourethrography results from these 19 women confirmed that 17 patients had bladder neck obstruction, while the remaining 2 had urethral obstruction. 16 of 19 were treated endoscopically, with 14 patients undergoing bladder neck incisions through the 5- and 7-o'clock positions and 2 patients having a distal urethral incision through the 12-o'clock position. In all of these 16 cases, there were both a statistical increase in the maximum flow rate (Qmax) as well as an improvement in the flow curves. Symptomatic improvement was observed in 12 of the 16 women subjected to surgical intervention.
Bladder outlet obstruction exists in women with lower urinary tract symptoms. Pressure-flow studies and voiding cystourethrography are reliable modalities for confirming bladder outlet obstruction. Bladder outlet obstruction can be functionally or structurally caused.
Urologia Internationalis 02/2004; 73(1):6-10. · 0.99 Impact Factor
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ABSTRACT: The effectiveness of neodymium laser therapy was presented in the treatment of urogenital condyloma acuminata in 55 patients (51 men and 4 women). The patients were followed up 14 days, 4 weeks, 3 months and 6 months after the laser treatment. The main localization of condyloma acuminata was foreskin and glans penis. The cure rate after the 1st session of treatment was 76%, 8.5% of patients required 3 sessions of the laser therapy. After 6 months 7 patients discontinued the follow-up, 89.6% (43 patients) were cured, 2 had the scars of foreskin and 3 suffered from recurrences. Neodymium laser treatment of urogenital condyloma is a safe treatment and no major side effects were encountered.
Wiadomości lekarskie (Warsaw, Poland: 1960) 02/2003; 56(5-6):209-13.
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ABSTRACT: We describe a case of a 50-year-old man with lesions localized in the region of urethral meatus and on the epithelium of the foreskin. The lesions were observed as the white spots with flat or somewhat depressed surface, locally similar to leukoplakia, lichen sclerosus atrophicus or cicatrix, without any subjective symptoms. Cystoscopy, micturition urography and biopsy were performed by urologist. The diagnosis of lichen planus Wilsoni was made based on the biopsy examination. We obtained great improvement of lesions through the applied local therapy
Annales Universitatis Mariae Curie-Skłodowska. Sectio D: Medicina 02/2003; 58(2):314-9.
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ABSTRACT: There we presented three cases of ureteral injury after gynecological operations. In two cases partial ureteral obstruction was treated by creating percutaneous renal fistula. In the latter case, in spite of conservative treatment (double J catheter), a uretero-vaginal fistula was detected.
Ginekologia polska 02/2002; 73(1):50-5. · 0.41 Impact Factor
