Search Results - "Wiggins, George A.R."

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup by Walker, Logan C., Hoya, Miguel de la, Wiggins, George A.R., Lindy, Amanda, Vincent, Lisa M., Parsons, Michael T., Canson, Daffodil M., Bis-Brewer, Dana, Cass, Ashley, Tchourbanov, Alexander, Zimmermann, Heather, Byrne, Alicia B., Pesaran, Tina, Karam, Rachid, Harrison, Steven M., Spurdle, Amanda B., Biesecker, Leslie G., Harrison, Steven M., Tayoun, Ahmad A., Berg, Jonathan S., Brenner, Steven E., Cutting, Garry R., Ellard, Sian, Greenblatt, Marc S., Kang, Peter, Karbassi, Izabela, Karchin, Rachel, Mester, Jessica, O’Donnell-Luria, Anne, Pesaran, Tina, Plon, Sharon E., Rehm, Heidi L., Strande, Natasha T., Tavtigian, Sean V., Topper, Scott

“…The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) framework for classifying variants uses six evidence…”
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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel by Parsons, Michael T, de la Hoya, Miguel, Richardson, Marcy E, Tudini, Emma, Anderson, Michael, Berkofsky-Fessler, Windy, Caputo, Sandrine M, Chan, Raymond C, Cline, Melissa S, Feng, Bing-Jian, Fortuno, Cristina, Gomez-Garcia, Encarna, Hadler, Johanna, Hiraki, Susan, Holdren, Megan, Houdayer, Claude, Hruska, Kathleen, James, Paul, Karam, Rachid, Leong, Huei San, Martins, Alexandra, Mensenkamp, Arjen R, Monteiro, Alvaro N, Nathan, Vaishnavi, O'Connor, Robert, Pedersen, Inge Sokilde, Pesaran, Tina, Radice, Paolo, Schmidt, Gunnar, Southey, Melissa, Tavtigian, Sean, Thompson, Bryony A, Toland, Amanda E, Turnbull, Clare, Vogel, Maartje J, Weyandt, Jamie, Wiggins, George A R, Zec, Lauren, Couch, Fergus J, Walker, Logan C, Vreeswijk, Maaike P G, Goldgar, David E, Spurdle, Amanda B

“…The ENIGMA research consortium develops and applies methods to determine clinical significance of variants in hereditary breast and ovarian cancer genes. An…”
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E-cadherin loss alters cytoskeletal organization and adhesion in non-malignant breast cells but is insufficient to induce an epithelial-mesenchymal transition by Chen, Augustine, Beetham, Henry, Black, Michael A, Priya, Rashmi, Telford, Bryony J, Guest, Joanne, Wiggins, George A R, Godwin, Tanis D, Yap, Alpha S, Guilford, Parry J

“…E-cadherin is an adherens junction protein that forms homophilic intercellular contacts in epithelial cells while also interacting with the intracellular…”
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Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events by de Jong, Lucy C, Cree, Simone, Lattimore, Vanessa, Wiggins, George A R, Spurdle, Amanda B, Miller, Allison, Kennedy, Martin A, Walker, Logan C

“…Laboratory assays evaluating the effect of DNA sequence variants on BRCA1 mRNA splicing may contribute to classification by providing molecular evidence…”
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Increased gene expression variability in BRCA1-associated and basal-like breast tumours by Wiggins, George A. R., Black, Michael A., Dunbier, Anita, Morley-Bunker, Arthur E., Pearson, John F., Walker, Logan C.

“…Purpose Inherited variants in the cancer susceptibility genes, BRCA1 and BRCA2 account for up to 5% of breast cancers. Multiple gene expression studies have…”
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Variable expression quantitative trait loci analysis of breast cancer risk variants by Wiggins, George A. R., Black, Michael A., Dunbier, Anita, Merriman, Tony R., Pearson, John F., Walker, Logan C.

“…Genome wide association studies (GWAS) have identified more than 180 variants associated with breast cancer risk, however the underlying functional mechanisms…”
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Genome-Wide Gene Expression Analyses of BRCA1- and BRCA2-Associated Breast and Ovarian Tumours by Wiggins, George A. R., Walker, Logan C., Pearson, John F.

“…Germline pathogenic variants in BRCA1 and BRCA2 increase cumulative lifetime risk up to 75% for breast cancer and 76% for ovarian cancer. Genetic testing for…”
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Ascorbate content of clinical glioma tissues is related to tumour grade and to global levels of 5-hydroxymethyl cytosine by Crake, Rebekah L. I., Burgess, Eleanor R., Wiggins, George A. R., Magon, Nicholas J., Das, Andrew B., Vissers, Margreet C. M., Morrin, Helen R., Royds, Janice A., Slatter, Tania L., Robinson, Bridget A., Phillips, Elisabeth, Dachs, Gabi U.

“…Gliomas are incurable brain cancers with poor prognosis, with epigenetic dysregulation being a distinctive feature. 5-hydroxymethylcytosine (5-hmC), an…”
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Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry by Walker, Logan C, Pearson, John F, Wiggins, George A R, Giles, Graham G, Hopper, John L, Southey, Melissa C

“…Women with breast cancer who have multiple affected relatives are more likely to have inherited genetic risk factors for the disease. All the currently known…”
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RNAscope compatibility with image analysis platforms for the quantification of tissue-based colorectal cancer biomarkers in archival formalin-fixed paraffin-embedded tissue by Morley-Bunker, Arthur E., Wiggins, George A.R., Currie, Margaret J., Morrin, Helen R., Whitehead, Martin R., Eglinton, Tim, Pearson, John, Walker, Logan C.

“…•RNA in situ expression quantification reliably achieved with image analysis methods.•Image analysis methods perform at similar levels to…”
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Increased Ascorbate Content of Glioblastoma Is Associated With a Suppressed Hypoxic Response and Improved Patient Survival by Burgess, Eleanor R, Crake, Rebekah L I, Phillips, Elisabeth, Morrin, Helen R, Royds, Janice A, Slatter, Tania L, Wiggins, George A R, Vissers, Margreet C M, Robinson, Bridget A, Dachs, Gabi U

“…Glioblastoma multiforme is a challenging disease with limited treatment options and poor survival. Glioblastoma tumours are characterised by hypoxia that…”
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Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers by Walker, Logan C, Marquart, Louise, Pearson, John F, Wiggins, George A R, O'Mara, Tracy A, Parsons, Michael T, Barrowdale, Daniel, McGuffog, Lesley, Dennis, Joe, Benitez, Javier, Slavin, Thomas P, Radice, Paolo, Frost, Debra, Godwin, Andrew K, Meindl, Alfons, Schmutzler, Rita Katharina, Isaacs, Claudine, Peshkin, Beth N, Caldes, Trinidad, Hogervorst, Frans Bl, Lazaro, Conxi, Jakubowska, Anna, Montagna, Marco, Chen, Xiaoqing, Offit, Kenneth, Hulick, Peter J, Andrulis, Irene L, Lindblom, Annika, Nussbaum, Robert L, Nathanson, Katherine L, Chenevix-Trench, Georgia, Antoniou, Antonis C, Couch, Fergus J, Spurdle, Amanda B

“…Genome-wide studies of patients carrying pathogenic variants (mutations) in BRCA1 or BRCA2 have reported strong associations between single-nucleotide…”
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Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification by Walker, Logan C, Lattimore, Vanessa Lilian, Kvist, Anders, Kleiblova, Petra, Zemankova, Petra, de Jong, Lucy, Wiggins, George A R, Hakkaart, Christopher, Cree, Simone L, Behar, Raquel, Houdayer, Claude, Parsons, Michael T, Kennedy, Martin A, Spurdle, Amanda B, de la Hoya, Miguel

“…Case-control analyses have shown variants to be associated with up to >2-fold increase in risk of breast cancer, and potentially greater risk of triple…”
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Differential Expression of BARD1 Isoforms in Melanoma by McDougall, Lorissa I, Powell, Ryan M, Ratajska, Magdalena, Lynch-Sutherland, Chi F, Hossain, Sultana Mehbuba, Wiggins, George A R, Harazin-Lechowska, Agnieszka, Cybulska-Stopa, Bożena, Motwani, Jyoti, Macaulay, Erin C, Reid, Glen, Walker, Logan C, Ryś, Janusz, Eccles, Michael R

“…Melanoma comprises <5% of cutaneous malignancies, yet it causes a significant proportion of skin cancer-related deaths worldwide. While new therapies for…”
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The Role of Constitutional Copy Number Variants in Breast Cancer by Walker, Logan C, Wiggins, George A R, Pearson, John F

“…Constitutional copy number variants (CNVs) include inherited and de novo deviations from a diploid state at a defined genomic region. These variants contribute…”
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