Search Results - "Meldrum, Cliff J."

Correction: 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 by Wong-Brown, Michelle, McPhillips, Mary, Gleeson, Margaret, Spigelman, Allan D, Meldrum, Cliff J, Dooley, Susan, Scott, Rodney J

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Phenotype-Genotype Correlations in a Series of Wolfram Syndrome Families by Smith, Casey J A, Crock, Patricia A, King, Bruce R, Meldrum, Cliff J, Scott, Rodney J

“…Phenotype-Genotype Correlations in a Series of Wolfram Syndrome Families Casey J.A. Smith , BSC 1 , Patricia A. Crock , MD 1 , Bruce R. King , MD 1 , Cliff J…”
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Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer by Wong-Brown, Michelle W., Meldrum, Cliff J., Carpenter, Jane E., Clarke, Christine L., Narod, Steven A., Jakubowska, Anna, Rudnicka, Helena, Lubinski, Jan, Scott, Rodney J.

“…Triple-negative breast cancers (TNBC) lack expression of oestrogen, progesterone and HER2 receptors. The gene expression profiles of TNBCs are similar to those…”
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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 by Schmiegel, Wolff, Scott, Rodney J., Dooley, Susan, Lewis, Wendy, Meldrum, Cliff J., Pockney, Peter, Draganic, Brian, Smith, Steve, Hewitt, Chelsee, Philimore, Hazel, Lucas, Amanda, Shi, Elva, Namdarian, Kateh, Chan, Timmy, Acosta, Danilo, Ping‐Chang, Su, Tannapfel, Andrea, Reinacher‐Schick, Anke, Uhl, Waldemar, Teschendorf, Christian, Wolters, Heiner, Stern, Josef, Viebahn, Richard, Friess, Helmut, Janssen, Klaus‐Peter, Nitsche, Ulrich, Slotta‐Huspenina, Julia, Pohl, Michael, Vangala, Deepak, Baraniskin, Alexander, Dockhorn‐Dworniczak, Barbara, Hegewisch‐Becker, Susanne, Ronga, Philippe, Edelstein, Daniel L., Jones, Frederick S., Hahn, Stephan, Fox, Stephen B.

“…An accurate blood‐based RAS mutation assay to determine eligibility of metastatic colorectal cancer (mCRC) patients for anti‐EGFR therapy would benefit…”
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Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data by Easteal, Simon, Arkell, Ruth M., Balboa, Renzo F., Bellingham, Shayne A., Brown, Alex D., Calma, Tom, Cook, Matthew C., Davis, Megan, Dawkins, Hugh J.S., Dinger, Marcel E., Dobbie, Michael S., Farlow, Ashley, Gwynne, Kylie G., Hermes, Azure, Hoy, Wendy E., Jenkins, Misty R., Jiang, Simon H., Kaplan, Warren, Leslie, Stephen, Llamas, Bastien, Mann, Graham J., McMorran, Brendan J., McWhirter, Rebekah E., Meldrum, Cliff J., Nagaraj, Shivashankar H., Newman, Saul J., Nunn, Jack S., Ormond-Parker, Lyndon, Orr, Neil J., Paliwal, Devashi, Patel, Hardip R., Pearson, Glenn, Pratt, Greg R., Rambaldini, Boe, Russell, Lynette W., Savarirayan, Ravi, Silcocks, Matthew, Skinner, John C., Souilmi, Yassine, Vinuesa, Carola G., Baynam, Gareth

“…Expanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The…”
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Missense mutations in cancer predisposing genes: can we make sense of them? by Scott, Rodney J, Meldrum, Cliff J

“…In the analysis of genes associated with predispositions to malignancy the causative status of mutations can be made relatively easily where it is obvious that…”
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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 by Chen, Jinyun, Pande, Mala, Huang, Yu-Jing, Wei, Chongjuan, Amos, Christopher I, Talseth-Palmer, Bente A, Meldrum, Cliff J, Chen, Wei V, Gorlov, Ivan P, Lynch, Patrick M, Scott, Rodney J, Frazier, Marsha L

“…Heterogeneity in age of onset of colorectal cancer in individuals with mutations in DNA mismatch repair genes (Lynch syndrome) suggests the influence of other…”
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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 by Wong-Brown, Michelle, McPhillips, Mary, Gleeson, Margaret, Spigelman, Allan D, Meldrum, Cliff J, Dooley, Susan, Scott, Rodney J

“…Since the identification of BRCA1 there has only ever been described two bi-allelic mutation carriers, one of whom was subsequently shown to be a mono-allelic…”
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IGF1 is a modifier of disease risk in hereditary non‐polyposis colorectal cancer by Reeves, Stuart G., Rich, Dominique, Meldrum, Cliff J., Colyvas, Kim, Kurzawski, Grzegorz, Suchy, Janina, Lubinski, Jan, Scott, Rodney J.

“…Patients diagnosed with HNPCC harbouring a confirmed germline mutation in DNA mismatch repair (MMR) genes have an 80% lifetime risk of developing an epithelial…”
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Frequency of the Common MYH Mutations (G382D and Y165C) in MMR Mutation Positive and Negative HNPCC Patients by Ashton, Katie A, Meldrum, Cliff J, McPhillips, Mary L, Kairupan, Carla F, Scott, Rodney J

“…Recently mutations in the MYH gene have been associated with a milder form of adenomatous polyposis which is characterized by a variable level of colonic…”
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Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds by Scott, Rodney J., McPhillips, Mary, Meldrum, Cliff J., Fitzgerald, Patrick E., Adams, Kirsten, Spigelman, Allan D., du Sart, Desiree, Tucker, Kathy, Kirk, Judy

“…Hereditary nonpolyposis colorectal cancer (HNPCC) describes the condition of a disparate group of families that have in common a predisposition to colorectal…”
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The Association of the COMT V158M Polymorphism with Endometrial/Ovarian Cancer in HNPCC Families Adhering to the Amsterdam Criteria by Ashton, Katie A, Meldrum, Cliff J, McPhillips, Mary L, Suchy, Janina, Kurzawski, Grzegorz, Lubinski, Jan, Scott, Rodney J

“…Catechol-O-methyltransferase (COMT) is vital for the conjugation of catechol estrogens that are produced during oestrogen metabolism. The efficiency of this…”
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Deletion Mutations in an Australian Series of HNPCC Patients by McPhillips, Mary, Meldrum, Cliff J, Creegan, Rhona, Edkins, Edward, Scott, Rodney J

“…Hereditary non polyposis colorectal cancer (HNPCC) is characterized by the presence of early onset colorectal cancer and other epithelial malignancies. The…”
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Direct integrin αvβ6-ERK binding: implications for tumour growth by AHMED, Nuzhat, JUN NIU, DORAHY, Douglas J, XINHUA GU, ANDREWS, Sarah, MELDRUM, Cliff J, SCOTT, Rodney J, BAKER, Mark S, MACREADIE, Ian G, AGREZ, Michael V

“…Blockade of the mitogen-activated protein (MAP) kinase pathway suppresses growth of colon cancer in vivo. Here we demonstrate a direct link between the…”
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Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations by Kairupan, Carla F., Meldrum, Cliff J., Crooks, Renee, Milward, Elizabeth A., Spigelman, Allan D., Burgess, Bronwyn, Groombridge, Claire, Kirk, Judy, Tucker, Kathy, Ward, Robyn, Williams, Rachel, Scott, Rodney J.

“…The MYH gene has recently been shown to be associated with a recessive form of colorectal adenomatous polyposis. Two common mutations in the MYH gene have been…”
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A Comparison Between Denaturing Gradient Gel Electrophoresis and Denaturing High Performance Liquid Chromatography in Detecting Mutations in Genes Associated with Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and the Identification of 9 New Mutations Previously Unidentified by DGGE by Meldrum, Cliff J, McPhillips, Mary, Crooks, Renee, Thomas, Lesley, Edkins, Ted, Creegan, Rohanna, Miller, Ewan, Agrez, Michael, Scott, Rodney J

“…Denaturing high performance liquid chromatography is a relatively new method by which heteroduplex structures formed during the PCR amplification of…”
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BRCA2 mutations in a population‐based series of patients with ocular melanoma by Scott, Rodney J., Vajdic, Claire M., Armstrong, Bruce K., Ainsworth, Christopher J., Meldrum, Cliff J., Aitken, Joanne F., Kricker, Anne

“…We studied the BRCA2 gene for germline mutations in 71 of 99 patients (72%) with ocular melanoma who were diagnosed consecutively in Australia in 1997 and…”
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Correction: When is a mutation not a mutation: the case of the c.594-2AC splice variant in a woman harbouring another BRCA1 mutation in trans by Wong-Brown, Michelle, McPhillips, Mary, Gleeson, Margaret, Spigelman, Allan D, Meldrum, Cliff J, Dooley, Susan, Scott, Rodney J

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Germline Missense Changes in the APC Gene and Their Relationship to Disease by Scott, Rodney J, Crooks, Renee, Rose, Lindy, Attia, John, Thakkinstian, Ammarin, Thomas, Lesley, Spigelman, Allan D, Meldrum, Cliff J

“…Familial adenomatous polyposis (FAP) is characterized by the presence of hundreds to thousands of adenomas that carpet the entire colon and rectum. Nonsense…”
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When is a mutation not a mutation: the case of the c.594-2AC splice variant in a woman harbouring another BRCA1 mutation in trans by Wong-Brown, Michelle, McPhillips, Mary, Gleeson, Margaret, Spigelman, Allan D, Meldrum, Cliff J, Dooley, Susan, Scott, Rodney J

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