https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Lipid and metabolite deregulation in BRCA1 and BRCA2 genetic mutations: response https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:24236 Wed 16 Nov 2016 14:36:47 AEDT ]]> Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:27356  G variant (rs152451) was significantly enriched in cases and may represent a low-penetrance polymorphism (p = 0.002; OR 1.24 (95 % CI 1.09–1.47). Conclusions: Our findings support truncating variants in PALB2 as high-penetrance breast cancer susceptibility alleles, and suggest that a common missense variant may also lead to a low level of increased breast cancer risk.]]> Wed 11 Apr 2018 17:01:50 AEST ]]> Ovarian cancer risk in Polish BRCA1 mutation carriers is not associated with the prohibitin 3' untranslated region polymorphism https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:4382 G, 4154delA) including 127 ovarian cases and 127 unaffected controls who had both breasts and ovaries intact. Controls were matched to cases by year of birth and BRCA1 mutation. Genotyping analysis was performed using PCR-based restriction fragment length polymorphism analysis. Odds ratios (OR) were calculated using conditional and penalized univariable and multivariable logistic regression. Results: A comparison of the genotype frequencies between cases and controls revealed no association of the PHB 3'UTR _CT+TT genotypes with ovarian cancer risk (ORadj 1.34; 95% CI, 0.59–3.11). Conclusion: Our data suggest that the PHB 3'UTR polymorphism does not modify ovarian cancer risk in women carrying one of the three Polish BRCA1 founder mutations.]]> Wed 11 Apr 2018 14:48:22 AEST ]]> Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:19379 Wed 11 Apr 2018 14:19:24 AEST ]]> The potential role of miRNAs in therapy of breast and ovarian cancers associated with BRCA1 mutation https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:30577 Wed 11 Apr 2018 13:01:52 AEST ]]> A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:13893 Wed 11 Apr 2018 10:36:53 AEST ]]> BRCA1-associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:9541 Sat 24 Mar 2018 08:35:48 AEDT ]]> Genetic markers in breast cancer - how far have we come from BRCA1? https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:13892 Sat 24 Mar 2018 08:19:33 AEDT ]]> First recurrent large genomic rearrangement in the BRCA1 gene found in Poland https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:21290 BRCA1 gene increases the risk of the person developing breast and/or ovarian cancer. The prevalence and spectrum of large genomic rearrangements (LGRs) varies considerably among different tested populations. In our previous study we described three LGRs in BRCA1 (exons 13-19, exon 17 and exon 22) in Polish families at high risk of breast and ovarian cancer. In this study we analyzed a group of 550 unselected women with ovarian cancer for the three previously identified LGRs. We used a rapid, single-step and closed-tube method: high-resolution melting analysis (HRMA). In this group of unrelated patients diagnosed with ovarian cancer we found three cases with the same deletions of exon 22. This is the first recurrent large deletion in BRCA1 found in Poland. We conclude that screening for the exon 22 deletion in BRCA1 should be included in the Polish BRCA1 genetic testing panel and possibly extended into other Slavic populations.]]> Sat 24 Mar 2018 07:54:36 AEDT ]]> cDNA analysis of the BRCA1 unclassified variant c.5194-12G > A (letter) https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:23714 Sat 24 Mar 2018 07:16:58 AEDT ]]> Response to lipid and metabolite deregulation in BRCA1 and BRCA2 genetic mutations (letter) https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:25019 Sat 24 Mar 2018 07:10:41 AEDT ]]>