/manager/Index ${session.getAttribute("locale")} 5 MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer /manager/Repository/uon:10386 Wed 11 Apr 2018 17:00:11 AEST ]]> Deletion mutations in an Australian series of HNPCC patients /manager/Repository/uon:458 Wed 11 Apr 2018 15:11:16 AEST ]]> Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families /manager/Repository/uon:30018 Wed 11 Apr 2018 14:26:41 AEST ]]> Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations /manager/Repository/uon:24811 Wed 11 Apr 2018 12:39:06 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 /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 11 Apr 2018 12:28:33 AEST ]]> Hereditary non polyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds /manager/Repository/uon:1099 Wed 11 Apr 2018 09:53:41 AEST ]]> Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome /manager/Repository/uon:14315 Sat 24 Mar 2018 08:24:40 AEDT ]]> Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers /manager/Repository/uon:23143 Sat 24 Mar 2018 07:10:33 AEDT ]]>