https://nova.newcastle.edu.au/vital/access/manager/Index ${session.getAttribute("locale")} 5 Hereditary non polyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds https://nova.newcastle.edu.au/vital/access/manager/Repository/uon:1099 Wed 11 Apr 2018 09:53:41 AEST ]]> When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans https://nova.newcastle.edu.au/vital/access/manager/Repository/uon:27793 BRCA1 there has only ever been described two bi-allelic mutation carriers, one of whom was subsequently shown to be a mono-allelic carrier. The second patient diagnosed with two BRCA1 mutations appears to be accurate but there remain some questions about the missense variant identified in that patient. In this report we have identified a woman who is a bi-allelic mutation carrier of BRCA1 and provide an explanation as to why this patient has a phenotype very similar to that of any mono-allelic mutation carrier. The splice variant identified in this patient appears to be associated with the up-regulation of a BRCA1 splice variant that rescues the lethality of being a double mutant. The consequences of the findings of this report may have implications for mutation interpretation and that could serve as a model for not only BRCA1 but also for other autosomal dominant disorders that are considered as being embryonically lethal.]]> Wed 06 Apr 2022 13:57:28 AEST ]]> Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer https://nova.newcastle.edu.au/vital/access/manager/Repository/uon:27801 Wed 04 Apr 2018 17:04:59 AEST ]]> Blood-based detection of RAS mutations to guide anti-EGFR therapy in colorectal cancer patients: concordance of results from circulating tumor DNA and tissue-based RAS testing https://nova.newcastle.edu.au/vital/access/manager/Repository/uon:33516 Tue 03 Sep 2019 18:26:36 AEST ]]> Direct integrin αvβ6-ERK binding: implications for tumour growth https://nova.newcastle.edu.au/vital/access/manager/Repository/uon:1506 Sat 24 Mar 2018 08:30:54 AEDT ]]> Phenotype-genotype correlations in a series of Wolfram syndrome families https://nova.newcastle.edu.au/vital/access/manager/Repository/uon:1443 Sat 24 Mar 2018 08:28:07 AEDT ]]> Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations https://nova.newcastle.edu.au/vital/access/manager/Repository/uon:1747 Sat 24 Mar 2018 08:27:24 AEDT ]]> Cell cycle-related genes as modifiers of age of onset of colorectal cancer in Lynch syndrome: a large-scale study in non-Hispanic white patients https://nova.newcastle.edu.au/vital/access/manager/Repository/uon:19920 Sat 24 Mar 2018 08:03:46 AEDT ]]> IGF1 is a modifier of disease risk in hereditary non-polyposis colorectal cancer https://nova.newcastle.edu.au/vital/access/manager/Repository/uon:5435 Sat 24 Mar 2018 07:48:14 AEDT ]]>