https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:14804 Wed 11 Apr 2018 14:46:12 AEST ]]> Expanding the genetic basis of copy number variation in familial breast cancer https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:16788 55 years of age). Results: CNV analysis revealed the presence of 275 unique rearrangements that were not present in the control population suggestive of their involvement in BC risk. Several CNVs were found that have been previously reported as BC susceptibility genes. This included CNVs in RPA3, NBN (NBS1), MRE11A and CYP19A1 in five unrelated fBC patients suggesting that these genes are involved in BC initiation and/or progression. Of special interest was the identification of WWOX and FHIT rearrangements in three unrelated fBC patients. Conclusions: This study has identified a number of CNVs that potentially contribute to BC initiation and/or progression. The identification of CNVs that are associated with known tumour suppressor genes is of special interest that warrants further larger studies to understand their precise role in fBC.]]> Wed 11 Apr 2018 14:30:00 AEST ]]> Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:30006 Wed 11 Apr 2018 14:06:50 AEST ]]> Copy number variation in hereditary non-polyposis colorectal cancer https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:14417 Wed 11 Apr 2018 11:44:21 AEST ]]>