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468 results on '"Young, Joanne P."'

1. Germline Variants and Advanced Colorectal Adenomas: Adenoma Prevention with Celecoxib Trial Genome-wide Association Study

Author

Wang, Jiping, Carvajal-Carmona, Luis G, Chu, Jen-Hwa, Zauber, Ann G, Collaborators, APC Trial, Kubo, Michikai, Matsuda, Koichi, Dunlop, Malcolm, Houlston, Richard S, Sieber, Oliver, Lipton, Lara, Gibbs, Peter, Martin, Nicholas G, Montgomery, Grant W, Young, Joanne, Baird, Paul N, Ratain, Mark J, Nakamura, Yusuke, Weiss, Scott T, Tomlinson, Ian, and Bertagnolli, Monica M

Subjects
Clinical Research, Genetics, Digestive Diseases, Cancer, Clinical Trials and Supportive Activities, Prevention, Colo-Rectal Cancer, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Adenoma, Anticarcinogenic Agents, Case-Control Studies, Celecoxib, Colorectal Neoplasms, Female, Gene-Environment Interaction, Genetic Predisposition to Disease, Genome-Wide Association Study, Germ-Line Mutation, Humans, Linkage Disequilibrium, Male, Neoplasm Recurrence, Local, Polymorphism, Single Nucleotide, Prospective Studies, Pyrazoles, Randomized Controlled Trials as Topic, Sulfonamides, APC Trial Collaborators, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

PurposeIdentification of single-nucleotide polymorphisms (SNP) associated with development of advanced colorectal adenomas.Experimental designDiscovery phase: 1,406 Caucasian patients (139 advanced adenoma cases and 1,267 controls) from the Adenoma Prevention with Celecoxib (APC) trial were included in a genome-wide association study (GWAS) to identify variants associated with postpolypectomy disease recurrence. Genome-wide significance was defined as false discovery rate less than 0.05, unadjusted P = 7.4 × 10(-7). Validation phase: results were further evaluated using 4,175 familial colorectal adenoma cases and 5,036 controls from patients of European ancestry [COloRectal Gene Identification consortium (CORGI), Scotland, Australia, and VQ58].ResultsOur study identified eight SNPs associated with advanced-adenoma risk in the APC trial (rs2837156, rs7278863, rs2837237, rs2837241, rs2837254, rs741864 at 21q22.2, and rs1381392 and rs17651822 at 3p24.1, at P < 10(-7) level with OR > 2). Five variants in strong pairwise linkage disequilibrium (rs7278863, rs2837237, rs741864, rs741864, and rs2837241; r(2) = 0.8-1) are in or near the coding region for the tight junction adhesion protein, IGSF5. An additional variant associated with advanced adenomas, rs1535989 [minor allele frequency, 0.11; OR, 2.09; 95% confidence interval (CI), 1.50-2.91], also predicted colorectal cancer development in a validation analysis (P = 0.019) using a series of adenoma cases or colorectal cancer (CORGI study) and 3 sets of colorectal cancer cases and controls (Scotland, VQ58, and Australia; N = 9,211).ConclusionsOur results suggest that common polymorphisms contribute to the risk of developing advanced adenomas and might also contribute to the risk of developing colorectal cancer. The variant at rs1535989 may identify patients whose risk for neoplasia warrants increased colonoscopic surveillance.

Published
2013

3. Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13

Author

Spain, Sarah L, Carvajal-Carmona, Luis G, Howarth, Kimberley M, Jones, Angela M, Su, Zhan, Cazier, Jean-Baptiste, Williams, Jennet, Aaltonen, Lauri A, Pharoah, Paul, Kerr, David J, Cheadle, Jeremy, Li, Li, Casey, Graham, Vodicka, Pavel, Sieber, Oliver, Lipton, Lara, Gibbs, Peter, Martin, Nicholas G, Montgomery, Grant W, Young, Joanne, Baird, Paul N, Morreau, Hans, van Wezel, Tom, Ruiz-Ponte, Clara, Fernandez-Rozadilla, Ceres, Carracedo, Angel, Castells, Antoni, Castellvi-Bel, Sergi, Dunlop, Malcolm, Houlston, Richard S, and Tomlinson, Ian PM

Subjects
Genetics, Colo-Rectal Cancer, Aging, Digestive Diseases, Human Genome, Biotechnology, Cancer, Aetiology, 2.1 Biological and endogenous factors, Chromosome Mapping, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 12, Colorectal Neoplasms, Computational Biology, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotyping Techniques, Haplotypes, Humans, Logistic Models, Polymorphism, Single Nucleotide, Software, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

In genome-wide association studies (GWASs) of colorectal cancer, we have identified two genomic regions in which pairs of tagging-single nucleotide polymorphisms (tagSNPs) are associated with disease; these comprise chromosomes 1q41 (rs6691170, rs6687758) and 12q13.13 (rs7163702, rs11169552). We investigated these regions further, aiming to determine whether they contain more than one independent association signal and/or to identify the SNPs most strongly associated with disease. Genotyping of additional sample sets at the original tagSNPs showed that, for both regions, the two tagSNPs were unlikely to identify a single haplotype on which the functional variation lay. Conversely, one of the pair of SNPs did not fully capture the association signal in each region. We therefore undertook more detailed analyses, using imputation, logistic regression, genealogical analysis using the GENECLUSTER program and haplotype analysis. In the 1q41 region, the SNP rs11118883 emerged as a strong candidate based on all these analyses, sufficient to account for the signals at both rs6691170 and rs6687758. rs11118883 lies within a region with strong evidence of transcriptional regulatory activity and has been associated with expression of PDGFRB mRNA. For 12q13.13, a complex situation was found: SNP rs7972465 showed stronger association than either rs11169552 or rs7136702, and GENECLUSTER found no good evidence for a two-SNP model. However, logistic regression and haplotype analyses supported a two-SNP model, in which a signal at the SNP rs706793 was added to that at rs11169552. Post-GWAS fine-mapping studies are challenging, but the use of multiple tools can assist in identifying candidate functional variants in at least some cases.

Published
2012

4. Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer.

Author

Tomlinson, Ian PM, Carvajal-Carmona, Luis G, Dobbins, Sara E, Tenesa, Albert, Jones, Angela M, Howarth, Kimberley, Palles, Claire, Broderick, Peter, Jaeger, Emma EM, Farrington, Susan, Lewis, Annabelle, Prendergast, James GD, Pittman, Alan M, Theodoratou, Evropi, Olver, Bianca, Walker, Marion, Penegar, Steven, Barclay, Ella, Whiffin, Nicola, Martin, Lynn, Ballereau, Stephane, Lloyd, Amy, Gorman, Maggie, Lubbe, Steven, COGENT Consortium, CORGI Collaborators, EPICOLON Consortium, Howie, Bryan, Marchini, Jonathan, Ruiz-Ponte, Clara, Fernandez-Rozadilla, Ceres, Castells, Antoni, Carracedo, Angel, Castellvi-Bel, Sergi, Duggan, David, Conti, David, Cazier, Jean-Baptiste, Campbell, Harry, Sieber, Oliver, Lipton, Lara, Gibbs, Peter, Martin, Nicholas G, Montgomery, Grant W, Young, Joanne, Baird, Paul N, Gallinger, Steven, Newcomb, Polly, Hopper, John, Jenkins, Mark A, Aaltonen, Lauri A, Kerr, David J, Cheadle, Jeremy, Pharoah, Paul, Casey, Graham, Houlston, Richard S, and Dunlop, Malcolm G

Subjects
COGENT Consortium, CORGI Collaborators, EPICOLON Consortium, Humans, Colorectal Neoplasms, Genetic Predisposition to Disease, Intercellular Signaling Peptides and Proteins, Case-Control Studies, Signal Transduction, Gene Frequency, Quantitative Trait, Heritable, Polymorphism, Single Nucleotide, Aged, Middle Aged, Male, Genetic Variation, Genome-Wide Association Study, Bone Morphogenetic Protein 2, Bone Morphogenetic Protein 4, Polymorphism, Single Nucleotide, Quantitative Trait, Heritable, Genetics, Developmental Biology
Abstract

Genome-wide association studies (GWAS) have identified 14 tagging single nucleotide polymorphisms (tagSNPs) that are associated with the risk of colorectal cancer (CRC), and several of these tagSNPs are near bone morphogenetic protein (BMP) pathway loci. The penalty of multiple testing implicit in GWAS increases the attraction of complementary approaches for disease gene discovery, including candidate gene- or pathway-based analyses. The strongest candidate loci for additional predisposition SNPs are arguably those already known both to have functional relevance and to be involved in disease risk. To investigate this proposition, we searched for novel CRC susceptibility variants close to the BMP pathway genes GREM1 (15q13.3), BMP4 (14q22.2), and BMP2 (20p12.3) using sample sets totalling 24,910 CRC cases and 26,275 controls. We identified new, independent CRC predisposition SNPs close to BMP4 (rs1957636, P = 3.93×10(-10)) and BMP2 (rs4813802, P = 4.65×10(-11)). Near GREM1, we found using fine-mapping that the previously-identified association between tagSNP rs4779584 and CRC actually resulted from two independent signals represented by rs16969681 (P = 5.33×10(-8)) and rs11632715 (P = 2.30×10(-10)). As low-penetrance predisposition variants become harder to identify-owing to small effect sizes and/or low risk allele frequencies-approaches based on informed candidate gene selection may become increasingly attractive. Our data emphasise that genetic fine-mapping studies can deconvolute associations that have arisen owing to independent correlation of a tagSNP with more than one functional SNP, thus explaining some of the apparently missing heritability of common diseases.

Published
2011

5. Supplemental Table 1 from Association of the Colorectal CpG Island Methylator Phenotype with Molecular Features, Risk Factors, and Family History

Author

Weisenberger, Daniel J., primary, Levine, A. Joan, primary, Long, Tiffany I., primary, Buchanan, Daniel D., primary, Walters, Rhiannon, primary, Clendenning, Mark, primary, Rosty, Christophe, primary, Joshi, Amit D., primary, Stern, Mariana C., primary, Le Marchand, Loic, primary, Lindor, Noralane M., primary, Daftary, Darshana, primary, Gallinger, Steven, primary, Selander, Teresa, primary, Bapat, Bharati, primary, Newcomb, Polly A., primary, Campbell, Peter T., primary, Casey, Graham, primary, Ahnen, Dennis J., primary, Baron, John A., primary, Haile, Robert W., primary, Hopper, John L., primary, Young, Joanne P., primary, Laird, Peter W., primary, and Siegmund, Kimberly D., primary

Published
2023
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6. Supplementary Data from Lynch Syndrome–Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry

Author

Walsh, Michael D., primary, Buchanan, Daniel D., primary, Cummings, Margaret C., primary, Pearson, Sally-Ann, primary, Arnold, Sven T., primary, Clendenning, Mark, primary, Walters, Rhiannon, primary, McKeone, Diane M., primary, Spurdle, Amanda B., primary, Hopper, John L., primary, Jenkins, Mark A., primary, Phillips, Kerry D., primary, Suthers, Graeme K., primary, George, Jill, primary, Goldblatt, Jack, primary, Muir, Amanda, primary, Tucker, Kathy, primary, Pelzer, Elise, primary, Gattas, Michael R., primary, Woodall, Sonja, primary, Parry, Susan, primary, Macrae, Finlay A., primary, Haile, Robert W., primary, Baron, John A., primary, Potter, John D., primary, Le Marchand, Loic, primary, Bapat, Bharati, primary, Thibodeau, Stephen N., primary, Lindor, Noralane M., primary, McGuckin, Michael A., primary, and Young, Joanne P., primary

Published
2023
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7. Data from Lynch Syndrome–Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry

Author

Walsh, Michael D., primary, Buchanan, Daniel D., primary, Cummings, Margaret C., primary, Pearson, Sally-Ann, primary, Arnold, Sven T., primary, Clendenning, Mark, primary, Walters, Rhiannon, primary, McKeone, Diane M., primary, Spurdle, Amanda B., primary, Hopper, John L., primary, Jenkins, Mark A., primary, Phillips, Kerry D., primary, Suthers, Graeme K., primary, George, Jill, primary, Goldblatt, Jack, primary, Muir, Amanda, primary, Tucker, Kathy, primary, Pelzer, Elise, primary, Gattas, Michael R., primary, Woodall, Sonja, primary, Parry, Susan, primary, Macrae, Finlay A., primary, Haile, Robert W., primary, Baron, John A., primary, Potter, John D., primary, Le Marchand, Loic, primary, Bapat, Bharati, primary, Thibodeau, Stephen N., primary, Lindor, Noralane M., primary, McGuckin, Michael A., primary, and Young, Joanne P., primary

Published
2023
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10. Expression of MUC2, MUC5AC, MUC5B, and MUC6 mucins in colorectal cancers and their association with the CpG island methylator phenotype

Author

Walsh, Michael D, Clendenning, Mark, Williamson, Elizabeth, Pearson, Sally-Ann, Walters, Rhiannon J, Nagler, Belinda, Packenas, David, Win, Aung K, Hopper, John L, Jenkins, Mark A, Haydon, Andrew M, Rosty, Christophe, English, Dallas R, Giles, Graham G, McGuckin, Michael A, Young, Joanne P, and Buchanan, Daniel D

Published
2013
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11. Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene

Author

Win, Aung Ko, Reece, Jeanette C., Buchanan, Daniel D., Clendenning, Mark, Young, Joanne P., Cleary, Sean P., Kim, Hyeja, Cotterchio, Michelle, Dowty, James G., MacInnis, Robert J., Tucker, Katherine M., Winship, Ingrid M., Macrae, Finlay A., Burnett, Terrilea, Le Marchand, Loïc, Casey, Graham, Haile, Robert W., Newcomb, Polly A., Thibodeau, Stephen N., Lindor, Noralane M., Hopper, John L., Gallinger, Steven, and Jenkins, Mark A.

Published
2015
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12. Young-Onset Gastrointestinal Adenocarcinoma Incidence and Survival Trends in the Northern Territory, Australia, with Emphasis on Indigenous Peoples

Author

Shepherdson, Mia, primary, Leemaqz, Shalem, additional, Singh, Gurmeet, additional, Ryder, Courtney, additional, Ullah, Shahid, additional, Canuto, Karla, additional, Young, Joanne P., additional, Price, Timothy J., additional, McKinnon, Ross A., additional, Pandol, Stephen J., additional, Roberts, Claire T., additional, and Barreto, Savio George, additional

Published
2022
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14. Colorectal carcinomas with KRAS mutation are associated with distinctive morphological and molecular features

Author

Rosty, Christophe, Young, Joanne P, Walsh, Michael D, Clendenning, Mark, Walters, Rhiannon J, Pearson, Sally, Pavluk, Erika, Nagler, Belinda, Pakenas, David, Jass, Jeremy R, Jenkins, Mark A, Win, Aung Ko, Southey, Melissa C, Parry, Susan, Hopper, John L, Giles, Graham G, Williamson, Elizabeth, English, Dallas R, and Buchanan, Daniel D

Published
2013
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17. Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry

Author

Walsh, Michael D, Buchanan, Daniel D, Pearson, Sally-Ann, Clendenning, Mark, Jenkins, Mark A, Win, Aung Ko, Walters, Rhiannon J, Spring, Kevin J, Nagler, Belinda, Pavluk, Erika, Arnold, Sven T, Goldblatt, Jack, George, Jill, Suthers, Graeme K, Phillips, Kerry, Hopper, John L, Jass, Jeremy R, Baron, John A, Ahnen, Dennis J, Thibodeau, Stephen N, Lindor, Noralane, Parry, Susan, Walker, Neal I, Rosty, Christophe, and Young, Joanne P

Published
2012
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18. High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry

Author

Rosty, Christophe, Walsh, Michael D., Lindor, Noralane M., Thibodeau, Stephen N., Mundt, Erin, Gallinger, Steven, Aronson, Melyssa, Pollett, Aaron, Baron, John A., Pearson, Sally, Clendenning, Mark, Walters, Rhiannon J., Nagler, Belinda N., Crawford, William J., Young, Joanne P., Winship, Ingrid, Win, Aung Ko, Hopper, John L., Jenkins, Mark A., and Buchanan, Daniel D.

Published
2014
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19. A System of Building Franchises.

Author

Young, JoAnne

Abstract

Edmonton (Alberta) Public Schools have a comparatively flat organization, with no bureaucratic layering between the superintendent and 200 principals, who are allocated extensive budgeting and purchasing responsibilities. Some functions remain centralized. Central services provides leadership training and screens all teachers. The superintendent establishes district priorities (MLH)

Published
2001

20. Aspirin, Ibuprofen, and the Risk for Colorectal Cancer in Lynch Syndrome

Author

Ait Ouakrim, Driss, Dashti, Seyedeh Ghazaleh, Chau, Rowena, Buchanan, Daniel D., Clendenning, Mark, Rosty, Christophe, Winship, Ingrid M., Young, Joanne P., Giles, Graham G., Leggett, Barbara, Macrae, Finlay A., Ahnen, Dennis J., Casey, Graham, Gallinger, Steven, Haile, Robert W., Le Marchand, Loïc, Thibodeau, Stephen N., Lindor, Noralane M., Newcomb, Polly A., Potter, John D., Baron, John A., Hopper, John L., Jenkins, Mark A., and Win, Aung Ko

Published
2015
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22. Survey of germline variants in cancer‐associated genes in young adults with colorectal cancer

Author

Mikaeel, Reger R., primary, Young, Joanne P., additional, Li, Yun, additional, Smith, Eric, additional, Horsnell, Mehgan, additional, Uylaki, Wendy, additional, Tapia Rico, Gonzalo, additional, Poplawski, Nicola K., additional, Hardingham, Jennifer E., additional, Tomita, Yoko, additional, Townsend, Amanda R., additional, Feng, Jinghua, additional, Zibat, Arne, additional, Kaulfuß, Silke, additional, Müller, Christian, additional, Yigit, Gökhan, additional, Wollnik, Bernd, additional, and Price, Timothy J., additional

Published
2021
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24. Lynch syndrome and cervical cancer

Author

Antill, Yoland C., Dowty, James G., Win, Aung Ko, Thompson, Tina, Walsh, Michael D., Cummings, Margaret C., Gallinger, Steven, Lindor, Noralane M., Le Marchand, Loïc, Hopper, John L., Newcomb, Polly A., Haile, Robert W., Church, James, Tucker, Katherine M., Buchanan, Daniel D., Young, Joanne P., Winship, Ingrid M., and Jenkins, Mark A.

Published
2015
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25. Faculty Collaboration and Academic Librarians.

Author

Young, JoAnne

Abstract

Considers four principal topics from the perspective of faculty/librarian relations: (1) the library's enhanced capacity to identify and acquire information; (2) the librarian's role in the teaching/learning process; (3) library staffing as it affects services and collections; and (4) a well-planned library building that includes librarian/faculty collaboration. (AEF)

Published
1995

26. RNF43pathogenic Germline variant in a family with colorectal cancer

Author

Mikaeel, Reger R., primary, Young, Joanne P., additional, Li, Yun, additional, Poplawski, Nicola K., additional, Smith, Eric, additional, Horsnell, Mehgan, additional, Uylaki, Wendy, additional, Tomita, Yoko, additional, Townsend, Amanda R., additional, Feng, Jinghua, additional, Zibat, Arne, additional, Kaulfuß, Silke, additional, Müller, Christian, additional, Yigit, Gökhan, additional, Wollnik, Bernd, additional, Scott, Hamish, additional, Rawlings, Lesley, additional, Henry, Denae, additional, Vakulin, Cassandra, additional, Dubowsky, Andrew, additional, and Price, Timothy J., additional

Published
2021
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27. Female Hormonal Factors and the Risk of Endometrial Cancer in Lynch Syndrome

Author

Dashti, Seyedeh Ghazaleh, Chau, Rowena, Ouakrim, Driss Ait, Buchanan, Daniel D., Clendenning, Mark, Young, Joanne P., Winship, Ingrid M., Arnold, Julie, Ahnen, Dennis J., Haile, Robert W., Casey, Graham, Gallinger, Steven, Thibodeau, Stephen N., Lindor, Noralane M., Le Marchand, Loïc, Newcomb, Polly A., Potter, John D., Baron, John A., Hopper, John L., Jenkins, Mark A., and Win, Aung Ko

Published
2015
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29. Role of tumour molecular and pathology features to estimate colorectal cancer risk for first-degree relatives

Author

Win, Aung Ko, Buchanan, Daniel D, Rosty, Christophe, MacInnis, Robert J, Dowty, James G, Dite, Gillian S, Giles, Graham G, Southey, Melissa C, Young, Joanne P, Clendenning, Mark, Walsh, Michael D, Walters, Rhiannon J, Boussioutas, Alex, Smyrk, Thomas C, Thibodeau, Stephen N, Baron, John A, Potter, John D, Newcomb, Polly A, Le Marchand, Loïc, Haile, Robert W, Gallinger, Steven, Lindor, Noralane M, Hopper, John L, Ahnen, Dennis J, and Jenkins, Mark A

Published
2015
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31. Risk of Metachronous Colon Cancer Following Surgery for Rectal Cancer in Mismatch Repair Gene Mutation Carriers

Author

Win, Aung Ko, Parry, Susan, Parry, Bryan, Kalady, Matthew F., Macrae, Finlay A., Ahnen, Dennis J., Young, Graeme P., Lipton, Lara, Winship, Ingrid, Boussioutas, Alex, Young, Joanne P., Buchanan, Daniel D., Arnold, Julie, Le Marchand, Loïc, Newcomb, Polly A., Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Hopper, John L., and Jenkins, Mark A.

Published
2013
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32. Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)

Author

Roberts, Aedan, Nancarrow, Derek, Clendenning, Mark, Buchanan, Daniel D., Jenkins, Mark A., Duggan, David, Taverna, Darin, McKeone, Diane, Walters, Rhiannon, Walsh, Michael D., Young, Bruce W., Jass, Jeremy R., Rosty, Christophe, Gattas, Michael, Pelzer, Elise, Hopper, John L., Goldblatt, Jack, George, Jill, Suthers, Graeme K., Phillips, Kerry, Parry, Susan, Woodall, Sonja, Arnold, Julie, Tucker, Kathy, Muir, Amanda, Drini, Musa, Macrae, Finlay, Newcomb, Polly, Potter, John D., Pavluk, Erika, Lindblom, Annika, and Young, Joanne P.

Published
2011
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34. Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study

Author

Buchanan, Daniel D., Sweet, Kevin, Drini, Musa, Jenkins, Mark A., Win, Aung Ko, Gattas, Michael, Walsh, Michael D., Clendenning, Mark, McKeone, Diane, Walters, Rhiannon, Roberts, Aedan, Young, Alasdair, Hampel, Heather, Hopper, John L., Goldblatt, Jack, George, Jill, Suthers, Graeme K., Phillips, Kerry, Young, Graeme P., Chow, Elizabeth, Parry, Susan, Woodall, Sonja, Tucker, Kathy, Muir, Amanda, Field, Michael, Greening, Sian, Gallinger, Steven, Green, Jane, Woods, Michael O., Spaetgens, Renee, de la Chapelle, Albert, Macrae, Finlay, Walker, Neal I., Jass, Jeremy R., and Young, Joanne P.

Published
2010
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35. Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis

Author

Walsh, Michael D., Buchanan, Daniel D., Walters, Rhiannon, Roberts, Aedan, Arnold, Sven, McKeone, Diane, Clendenning, Mark, Ruszkiewicz, Andrew R., Jenkins, Mark A., Hopper, John L., Goldblatt, Jack, George, Jillian, Suthers, Graeme K., Phillips, Kerry, Young, Graeme P., Macrae, Finlay, Drini, Musa, Woods, Michael O., Parry, Susan, Jass, Jeremy R., and Young, Joanne P.

Published
2009
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43. Appendiceal neoplasm incidence and mortality rates are on the rise in Australia

Author

Mikaeel, Reger R., primary, Young, Joanne P., additional, Hardingham, Jennifer E., additional, Tapia Rico, Gonzalo, additional, Hewett, Peter J., additional, Symonds, Erin L., additional, Edwards, Suzanne, additional, Smith, Eric, additional, Tomita, Yoko, additional, Uylaki, Wendy, additional, Horsnell, Mehgan, additional, and Price, Timothy J., additional

Published
2020
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44. Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer

Author

Casey, Graham, Steelman, Scott, Aronson, Melyssa, Hopper, John L., Haile, Robert, Lindor, Noralene M., Buzin, Carolyn H., Gallinger, Steven, Diep, Anh, Papadopoulos, Nickolas, Sommer, Steve S., Barker, Melissa A., Bapat, Bharati, Thibodeau, Stephen N., Collins, Christine E., Young, Joanne P., Salem, Michael, Moskow, John, Butz, Malinda, Jass, Jeremy R., and Seminara, Daniela

Subjects
Gene mutations -- Evaluation, Colorectal cancer -- Genetic aspects, Genetic research
Abstract

A multicenter study was conducted to evaluate the potential of conversion analysis compared with DNA sequencing alone to detect heterogeneous germline mutations in MLH1, MSH2, and MSH6 in colorectal cancer patients. The data confirmed the heterogeneity of mismatch repair mutations and revealed that many mutations in colorectal cancer cases would be missed using conventional genomic DNA sequencing alone.

Published
2005

46. Cancer Risks for MLH1 and MSH2 Mutation Carriers

Author

Dowty, James G., Win, Aung K., Buchanan, Daniel D., Lindor, Noralane M., Macrae, Finlay A., Clendenning, Mark, Antill, Yoland C., Thibodeau, Stephen N., Casey, Graham, Gallinger, Steve, Marchand, Loic Le, Newcomb, Polly A., Haile, Robert W., Young, Graeme P., James, Paul A., Giles, Graham G., Gunawardena, Shanaka R., Leggett, Barbara A., Gattas, Michael, Boussioutas, Alex, Ahnen, Dennis J., Baron, John A., Parry, Susan, Goldblatt, Jack, Young, Joanne P., Hopper, John L., and Jenkins, Mark A.

Published
2013
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47. Risks of Colorectal and Other Cancers After Endometrial Cancer for Women With Lynch Syndrome

Author

Win, Aung Ko, Lindor, Noralane M., Winship, Ingrid, Tucker, Katherine M., Buchanan, Daniel D., Young, Joanne P., Rosty, Christophe, Leggett, Barbara, Giles, Graham G., Goldblatt, Jack, Macrae, Finlay A., Parry, Susan, Kalady, Matthew F., Baron, John A., Ahnen, Dennis J., Marchand, Loic Le, Gallinger, Steven, Haile, Robert W., Newcomb, Polly A., Hopper, John L., and Jenkins, Mark A.

Published
2013
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48. A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

Author

Thompson, Bryony A., Goldgar, David E., Paterson, Carol, Clendenning, Mark, Walters, Rhiannon, Arnold, Sven, Parsons, Michael T., Michael D., Walsh, Gallinger, Steven, Haile, Robert W., Hopper, John L., Jenkins, Mark A., LeMarchand, Loic, Lindor, Noralane M., Newcomb, Polly A., Thibodeau, Stephen N., Young, Joanne P., Buchanan, Daniel D., Tavtigian, Sean V., and Spurdle, Amanda B.

Published
2013
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50. RNF43 pathogenic Germline variant in a family with colorectal cancer.

Author

Mikaeel, Reger R., Young, Joanne P., Li, Yun, Poplawski, Nicola K., Smith, Eric, Horsnell, Mehgan, Uylaki, Wendy, Tomita, Yoko, Townsend, Amanda R., Feng, Jinghua, Zibat, Arne, Kaulfuß, Silke, Müller, Christian, Yigit, Gökhan, Wollnik, Bernd, Scott, Hamish, Rawlings, Lesley, Henry, Denae, Vakulin, Cassandra, and Dubowsky, Andrew

Subjects
*COLORECTAL cancer, *GERM cells, *TUMOR suppressor genes, *PROTEIN synthesis, *PROGRESSION-free survival
Abstract

The role of RNF43 as a cause of an inherited predisposition to colorectal cancer (CRC) is yet to be fully explored. This report presents our findings of two individuals with CRC from a single family carrying a likely‐pathogenic inherited germline variant in RNF43. The proband (III:1) and the proband's mother (II:2) were diagnosed with mismatch repair proficient CRCs at the age of 50 years and 65 years, respectively. Both patients had BRAFV600E mutated colon tumours, indicating that the CRCs arose in sessile serrated lesions. The germline variant RNF43:c.375+1G>A was identified in both patients. RNA studies showed that this variant resulted in an aberrantly spliced transcript, which was predicted to encode RNF43:p.Ala126Ilefs*50 resulting in premature termination of protein synthesis and was classified as a likely‐pathogenic variant. Our report adds further evidence to the hereditary role of RNF43 as a tumour suppressor gene in colorectal tumorigenesis and supports the inclusion of RNF43 as a gene of interest in the investigation of CRC predispositions outside the setting of serrated polyposis. [ABSTRACT FROM AUTHOR]

Published
2022
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