https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:24833 A, del5395, I157T), NBS1 (657del5) and PALB2 (509-510delGA, 172-175delTTGT). A statistically significant association between the 657del5 mutation and an increased risk of pancreatic cancer was observed for NBS1 gene. The Slavic NBS1 gene mutation (657delACAAA) was detected in 8 of 383 (2.09%) unselected cases compared with 22 of 4,000 (0.55%) controls (OR: 3.80, p = 0.002). The PALB2 509_510delGA and 172-175delTTGT mutations combined were seen in 2 (0.52%) unselected cases of PaCa and in 8 (0.20%) of 4,000 controls (OR: 2.61, p = 0.49). For BRCA1, the three mutations combined were detected in 4 of 383 (1.04%) PaCa patients and in 17 of 4,000 (0.42%) controls (OR: 2.46, p = 0.20). CHEK2 mutations were not associated with the risk of pancreatic cancer (OR: 1.11, p = 0.72). The founder mutation in NBS1 (657del5) was associated with an increased risk of PaCa in heterozygous carriers, indicating that this mutation appears to predispose to cancer of the pancreas. By identifying pancreatic cancer risk groups, founder mutation testing in Poland should be considered for people at risk for PaCa.]]> Wed 24 Nov 2021 15:53:13 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:49893 A and I157T. Predictors of survival were determined among CHEK2 pathogenic variant carriers using the Cox proportional hazards model. The median follow-up was 17.5 years. Covariates included age (≤60; >61 years), sex (female; male), clinical characteristics (stage: TNM, grade, histopathological type), smoking status (non-smoking; smoking) and cancer family history (negative; positive). Results: We found no impact of CHEK2 mutations on bladder or kidney cancer survival. However, we observed a possible increased survival in the subgroup of patients with stage T1 bladder cancer with CHEK2 mutations but this did not meet statistical significance (HR = 0.14; 95% CI 0.02–1.04; p = 0.055). Moreover, we observed that the missense mutations were more frequent in the low grade invasive bladder cancer patient group (OR = 7.9; 95% CI 1.50–42.1; p = 0.04) and in patients with bladder cancer with stage Ta (OR = 2.4; 95% CI 1.30–4.55; p = 0.006). The different results where missense mutations occurs less often we observed among patients with high grade invasive bladder cancer (OR = 0.12; 95% CI 0.02–0.66; p = 0.04) and those with stage T1 disease (OR = 0.2; 95% CI 0.07–0.76; p = 0.01). Our investigations revealed that any mutation in CHEK2 occurs more often among patients with stage Ta bladder cancer (OR = 2.0; 95% CI 1.19–3.47; p = 0.01) and less often in patients with stage T1 disease (OR = 0.31; 95% CI 0.12–0.78; p = 0.01). In the kidney cancer patients, truncating mutations were present more often in the group with clear cell carcinoma GII (OR = 8.0; 95% CI 0.95–67.7; p = 0.05). The 10-year survival for all CHEK2 mutation carriers with bladder cancer was 33% and for non-carriers 11% (p = 0.15). The 10-year survival for CHEK2 mutation carriers with kidney cancer 34% and for non-carriers 20% (p = 0.5). Conclusion: CHEK2 mutations were not associated with any change in bladder or kidney cancer survival regardless of their age, sex, smoking status and family history. We observed a potentially protective effect of CHEK2 mutations on survival for patients with stage T1 bladder cancer. CHEK2 missense mutations were more common among patients with low grade invasive bladder cancer and in patients with stage Ta diease. The frequencies of the I157T CHEK2 pathogenic variant were less in patients with high grade invasive bladder cancer and those with stage T1 disease. Among patients with bladder cancer with stage Ta disease, the OR for any mutation in CHEK2 was 2.0 but for those with stage T1 disease, the OR was 0.3. We observed truncating CHEK2 mutations were associated with kidney cancer patients with GII clear cell carcinoma.]]> Wed 14 Jun 2023 17:10:17 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:27053 Wed 11 Apr 2018 16:37:42 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:4866 Wed 11 Apr 2018 16:25:23 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:27601 Wed 11 Apr 2018 15:11:09 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:28485 Wed 11 Apr 2018 14:12:51 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:14831 Wed 11 Apr 2018 13:24:36 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:13891 Wed 11 Apr 2018 12:00:00 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:7834 Wed 11 Apr 2018 10:13:30 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:16770 Wed 11 Apr 2018 10:04:45 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:23842 Wed 09 Mar 2022 16:01:18 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:38900 POT1, ACD, and TERF2IP mutations among Polish melanoma patients. A cohort of 60 patients from melanoma-prone families, 1500 unselected cases and 1500 controls were genotyped. Methodology included Sanger sequencing, in-silico software predilection, and TaqMan assays. We identified three nonsynonymous variants: POT1 c.903 G>T; TERF2IP c.970 A>G; and ACD c.1544 T>C and a splice site variant ACD c.645 G>A. The c.903 G>T was predicted to be pathogenic according to PolyPhen-2, benign according to Mutation Taster, PROVEAN, AGVGD, and SIFT. The c.645 G>A was defined as disease caused by Mutation Taster and Human Splicing Finder and as variant of unknown significance by ClinVar. The other detected variants were described as benign. The c.903 G>T variant was present in two unselected cases and one control [P = 0.57, odds ratio (OR) = 2.00]; the c.645 G>A variant was not detected among the unselected cases and the controls; the c.970 A>G variant was present in 110 cases and 133 controls (P = 0.14, OR = 0.81); the c.1544 T>C variant was present in 687 cases and 642 controls (P = 0.11, OR = 1.07). We found no loss of heterozygosity of the c.903 G>T, c.970 A>G, and c.645 G>A variants. C.645 G>A variant had no effect on splicing or expression. The changes in POT1 c.903 G>T and ACD c.645 G>A can be classified as rare variants of unknown significance, the other variants appear to be polymorphisms. Germline mutations in POT1, ACD, and TERF2IP are infrequent among Polish melanoma patients.]]> Tue 01 Mar 2022 16:02:13 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:30577 Thu 24 Mar 2022 11:32:23 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:8123 Sat 24 Mar 2018 08:40:02 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:7576 Sat 24 Mar 2018 08:37:24 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20712 Sat 24 Mar 2018 08:06:21 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:19105 Sat 24 Mar 2018 07:55:58 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:38391 Mon 29 Jan 2024 18:44:32 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:48683 1.97–7.77 µg/L) compared to quartile I (0.23–0.57 µg/L, reference). This study revealed that low blood cadmium levels <1.47 µg/L are probably associated with improved overall survival in treated patients with stage IA disease.]]> Mon 27 Mar 2023 14:53:43 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:55448 0.71 µg/L) had a significantly increased risk of cancer compared to those with low levels (<0.19 µg/L) (HR 3.42, p < 0.001), particularly among non-smokers (HR 3.74, p = 0.003), individuals aged < 60 years (HR 2.79, p = 0.017), and ≥60 (HR 4.63, p = 0.004). The influence of smoking on cancer risk based on Cd levels was not significant in this study. Blood Cd levels may influence cancer risk in men, emphasizing the importance of minimizing Cd exposure to reduce risk. Confirmation of these results in other populations is essential for effective preventive measures against Cd-related cancers.]]> Mon 03 Jun 2024 08:36:29 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:51497 A (p.P.A148T) and survival of patients with bladder or kidney cancer remains controversial. Materials and Methods: We compared the allele frequencies of NOD2 c.3020insC and CDKN2A p.A148T allele in 706 patients with bladder cancer, 410 cases with kidney cancer against two control groups. The Cox proportional hazards model was used to determine whether there were any survival differences between carriers of the NOD2 c.3020insC or the CDKN2A p.A148T variant. Results: Among the three patient subgroups: patients under 60 years of age, non-smokers and a third with histological features of low grade noninvasive papillary bladder cancer, we observed that the c.3020insC allele had a nominal statistically significant effect on survival. We also observed that the NOD2 c.3020insC variant was more frequent in patients with bladder cancer aged between 51 and 60 years. There was some nominal evidence that the CDKN2A p.A148T polymorphism reduced survival in the subgroup of bladder cancer patients under 60 years of age. We observed that in kidney cancer patients, the incidence of the NOD2 variant appeared to be lower in the group aged between 60 and 70 years, however, this was not statistically significant. In addition, in patients with histological features of grade III chromophobic kidney cancer, the c.3020insC allele also appeared to be overrepresented but this too was not statistically significant. Conclusion: We have shown that the NOD2 c.3020insC allele and the CDKN2A p.A148T polymorphism does not play a role in the survival of patients with bladder cancer.]]> Fri 08 Sep 2023 11:56:10 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:49791 Fri 02 Jun 2023 17:14:07 AEST ]]>