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The association of telomere length with colorectal cancer differs by the age of cancer onset.

Clinical and translational gastroenterology

Boardman LA, Litzelman K, Seo S, Johnson RA, Vanderboom RJ, Kimmel GW, Cunningham JM, Gangnon RE, Engelman CD, Riegert-Johnson DL, Potter J, Haile R, Buchanan D, Jenkins MA, Rider DN, Thibodeau SN, Petersen GM, Skinner HG.
PMID: 24598784
Clin Transl Gastroenterol. 2014 Mar 06;5:e52. doi: 10.1038/ctg.2014.3.

OBJECTIVES: Telomeres are nucleoprotein structures that cap the end of chromosomes and shorten with sequential cell divisions in normal aging. Short telomeres are also implicated in the incidence of many cancers, but the evidence is not conclusive for colorectal...

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Boardman LA, Litzelman K, Seo S, et al. The association of telomere length with colorectal cancer differs by the age of cancer onset. Clin Transl Gastroenterol. 2014;5:e52doi: 10.1038/ctg.2014.3.
Boardman, L. A., Litzelman, K., Seo, S., Johnson, R. A., Vanderboom, R. J., Kimmel, G. W., Cunningham, J. M., Gangnon, R. E., Engelman, C. D., Riegert-Johnson, D. L., Potter, J., Haile, R., Buchanan, D., Jenkins, M. A., Rider, D. N., Thibodeau, S. N., Petersen, G. M., & Skinner, H. G. (2014). The association of telomere length with colorectal cancer differs by the age of cancer onset. Clinical and translational gastroenterology, 5e52. https://doi.org/10.1038/ctg.2014.3
Boardman, Lisa A, et al. "The association of telomere length with colorectal cancer differs by the age of cancer onset." Clinical and translational gastroenterology vol. 5 (2014): e52. doi: https://doi.org/10.1038/ctg.2014.3
Boardman LA, Litzelman K, Seo S, Johnson RA, Vanderboom RJ, Kimmel GW, Cunningham JM, Gangnon RE, Engelman CD, Riegert-Johnson DL, Potter J, Haile R, Buchanan D, Jenkins MA, Rider DN, Thibodeau SN, Petersen GM, Skinner HG. The association of telomere length with colorectal cancer differs by the age of cancer onset. Clin Transl Gastroenterol. 2014 Mar 06;5:e52. doi: 10.1038/ctg.2014.3. PMID: 24598784; PMCID: PMC3972691.
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Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

Oncotarget

Raskin L, Guo Y, Du L, Clendenning M, Rosty C, Lindor NM, Gruber SB, Buchanan DD.
PMID: 29212164
Oncotarget. 2017 Jun 21;8(55):93450-93463. doi: 10.18632/oncotarget.18596. eCollection 2017 Nov 07.

The underlying genetic cause of colorectal cancer (CRC) can be identified for 5-10% of all cases, while at least 20% of CRC cases are thought to be due to inherited genetic factors. Screening for highly penetrant mutations in genes...

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Raskin L, Guo Y, Du L, et al. Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort. Oncotarget. 2017;8(55):93450-93463doi: 10.18632/oncotarget.18596.
Raskin, L., Guo, Y., Du, L., Clendenning, M., Rosty, C., Lindor, N. M., Gruber, S. B., & Buchanan, D. D. (2017). Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort. Oncotarget, 8(55), 93450-93463. https://doi.org/10.18632/oncotarget.18596
Raskin, Leon, et al. "Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort." Oncotarget vol. 8,55 (2017): 93450-93463. doi: https://doi.org/10.18632/oncotarget.18596
Raskin L, Guo Y, Du L, Clendenning M, Rosty C, Lindor NM, Gruber SB, Buchanan DD. Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort. Oncotarget. 2017 Jun 21;8(55):93450-93463. doi: 10.18632/oncotarget.18596. eCollection 2017 Nov 07. PMID: 29212164; PMCID: PMC5706810.
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Exploratory Genome-Wide Interaction Analysis of Nonsteroidal Anti-inflammatory Drugs and Predicted Gene Expression on Colorectal Cancer Risk.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology

Wang X, Su YR, Petersen PS, Bien S, Schmit SL, Drew DA, Albanes D, Berndt SI, Brenner H, Campbell PT, Casey G, Chang-Claude J, Gallinger SJ, Gruber SB, Haile RW, Harrison TA, Hoffmeister M, Jacobs EJ, Jenkins MA, Joshi AD, Li L, Lin Y, Lindor NM, Marchand LL, Martin V, Milne R, Maclnnis R, Moreno V, Nan H, Newcomb PA, Potter JD, Rennert G, Rennert H, Slattery ML, Thibodeau SN, Weinstein SJ, Woods MO, Chan AT, White E, Hsu L, Peters U.
PMID: 32651213
Cancer Epidemiol Biomarkers Prev. 2020 Sep;29(9):1800-1808. doi: 10.1158/1055-9965.EPI-19-1018. Epub 2020 Jul 10.

BACKGROUND: Regular use of nonsteroidal anti-inflammatory drugs (NSAID) is associated with lower risk of colorectal cancer. Genome-wide interaction analysis on single variants (G × E) has identified several SNPs that may interact with NSAIDs to confer colorectal cancer risk,...

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Wang X, Su YR, Petersen PS, et al. Exploratory Genome-Wide Interaction Analysis of Nonsteroidal Anti-inflammatory Drugs and Predicted Gene Expression on Colorectal Cancer Risk. Cancer Epidemiol Biomarkers Prev. 2020;29(9):1800-1808doi: 10.1158/1055-9965.EPI-19-1018.
Wang, X., Su, Y. R., Petersen, P. S., Bien, S., Schmit, S. L., Drew, D. A., Albanes, D., Berndt, S. I., Brenner, H., Campbell, P. T., Casey, G., Chang-Claude, J., Gallinger, S. J., Gruber, S. B., Haile, R. W., Harrison, T. A., Hoffmeister, M., Jacobs, E. J., Jenkins, M. A., Joshi, A. D., Li, L., Lin, Y., Lindor, N. M., Marchand, L. L., Martin, V., Milne, R., Maclnnis, R., Moreno, V., Nan, H., Newcomb, P. A., Potter, J. D., Rennert, G., Rennert, H., Slattery, M. L., Thibodeau, S. N., Weinstein, S. J., Woods, M. O., Chan, A. T., White, E., Hsu, L., & Peters, U. (2020). Exploratory Genome-Wide Interaction Analysis of Nonsteroidal Anti-inflammatory Drugs and Predicted Gene Expression on Colorectal Cancer Risk. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 29(9), 1800-1808. https://doi.org/10.1158/1055-9965.EPI-19-1018
Wang, Xiaoliang, et al. "Exploratory Genome-Wide Interaction Analysis of Nonsteroidal Anti-inflammatory Drugs and Predicted Gene Expression on Colorectal Cancer Risk." Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology vol. 29,9 (2020): 1800-1808. doi: https://doi.org/10.1158/1055-9965.EPI-19-1018
Wang X, Su YR, Petersen PS, Bien S, Schmit SL, Drew DA, Albanes D, Berndt SI, Brenner H, Campbell PT, Casey G, Chang-Claude J, Gallinger SJ, Gruber SB, Haile RW, Harrison TA, Hoffmeister M, Jacobs EJ, Jenkins MA, Joshi AD, Li L, Lin Y, Lindor NM, Marchand LL, Martin V, Milne R, Maclnnis R, Moreno V, Nan H, Newcomb PA, Potter JD, Rennert G, Rennert H, Slattery ML, Thibodeau SN, Weinstein SJ, Woods MO, Chan AT, White E, Hsu L, Peters U. Exploratory Genome-Wide Interaction Analysis of Nonsteroidal Anti-inflammatory Drugs and Predicted Gene Expression on Colorectal Cancer Risk. Cancer Epidemiol Biomarkers Prev. 2020 Sep;29(9):1800-1808. doi: 10.1158/1055-9965.EPI-19-1018. Epub 2020 Jul 10. PMID: 32651213; PMCID: PMC7556991.
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Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome.

The Journal of molecular diagnostics : JMD

Pope BJ, Clendenning M, Rosty C, Mahmood K, Georgeson P, Joo JE, Walker R, Hutchinson RA, Jayasekara H, Joseland S, Como J, Preston S, Spurdle AB, Macrae FA, Win AK, Hopper JL, Jenkins MA, Winship IM, Buchanan DD.
PMID: 33383211
J Mol Diagn. 2021 Mar;23(3):358-371. doi: 10.1016/j.jmoldx.2020.12.003. Epub 2020 Dec 29.

Patients in whom mismatch repair (MMR)-deficient cancer develops in the absence of pathogenic variants of germline MMR genes or somatic hypermethylation of the MLH1 gene promoter are classified as having suspected Lynch syndrome (SLS). Germline whole-genome sequencing (WGS) and...

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Pope BJ, Clendenning M, Rosty C, et al. Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome. J Mol Diagn. 2020;23(3):358-371doi: 10.1016/j.jmoldx.2020.12.003.
Pope, B. J., Clendenning, M., Rosty, C., Mahmood, K., Georgeson, P., Joo, J. E., Walker, R., Hutchinson, R. A., Jayasekara, H., Joseland, S., Como, J., Preston, S., Spurdle, A. B., Macrae, F. A., Win, A. K., Hopper, J. L., Jenkins, M. A., Winship, I. M., & Buchanan, D. D. (2021). Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome. The Journal of molecular diagnostics : JMD, 23(3), 358-371. https://doi.org/10.1016/j.jmoldx.2020.12.003
Pope, Bernard J, et al. "Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome." The Journal of molecular diagnostics : JMD vol. 23,3 (2021): 358-371. doi: https://doi.org/10.1016/j.jmoldx.2020.12.003
Pope BJ, Clendenning M, Rosty C, Mahmood K, Georgeson P, Joo JE, Walker R, Hutchinson RA, Jayasekara H, Joseland S, Como J, Preston S, Spurdle AB, Macrae FA, Win AK, Hopper JL, Jenkins MA, Winship IM, Buchanan DD. Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome. J Mol Diagn. 2021 Mar;23(3):358-371. doi: 10.1016/j.jmoldx.2020.12.003. Epub 2020 Dec 29. PMID: 33383211; PMCID: PMC7927277.
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How does genetic risk information for Lynch syndrome translate to risk management behaviours?.

Hereditary cancer in clinical practice

Steel E, Robbins A, Jenkins M, Flander L, Gaff C, Keogh L.
PMID: 28070225
Hered Cancer Clin Pract. 2017 Jan 05;15:1. doi: 10.1186/s13053-016-0061-6. eCollection 2017.

BACKGROUND: There is limited research on why some individuals who have undergone predictive genetic testing for Lynch syndrome do not adhere to screening recommendations. This study aimed to explore qualitatively how Lynch syndrome non-carriers and carriers translate genetic risk...

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Steel E, Robbins A, Jenkins M, et al. How does genetic risk information for Lynch syndrome translate to risk management behaviours?. Hered Cancer Clin Pract. 2017;15:1doi: 10.1186/s13053-016-0061-6.
Steel, E., Robbins, A., Jenkins, M., Flander, L., Gaff, C., & Keogh, L. (2017). How does genetic risk information for Lynch syndrome translate to risk management behaviours?. Hereditary cancer in clinical practice, 151. https://doi.org/10.1186/s13053-016-0061-6
Steel, Emma, et al. "How does genetic risk information for Lynch syndrome translate to risk management behaviours?." Hereditary cancer in clinical practice vol. 15 (2017): 1. doi: https://doi.org/10.1186/s13053-016-0061-6
Steel E, Robbins A, Jenkins M, Flander L, Gaff C, Keogh L. How does genetic risk information for Lynch syndrome translate to risk management behaviours?. Hered Cancer Clin Pract. 2017 Jan 05;15:1. doi: 10.1186/s13053-016-0061-6. eCollection 2017. PMID: 28070225; PMCID: PMC5217251.
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Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular genetics & genomic medicine

DeRycke MS, Gunawardena S, Balcom JR, Pickart AM, Waltman LA, French AJ, McDonnell S, Riska SM, Fogarty ZC, Larson MC, Middha S, Eckloff BW, Asmann YW, Ferber MJ, Haile RW, Gallinger S, Clendenning M, Rosty C, Win AK, Buchanan DD, Hopper JL, Newcomb PA, Le Marchand L, Goode EL, Lindor NM, Thibodeau SN.
PMID: 28944238
Mol Genet Genomic Med. 2017 Jul 23;5(5):553-569. doi: 10.1002/mgg3.317. eCollection 2017 Sep.

BACKGROUND: Mutations in several genes predispose to colorectal cancer. Genetic testing for hereditary colorectal cancer syndromes was previously limited to single gene tests; thus, only a very limited number of genes were tested, and rarely those infrequently mutated in...

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DeRycke MS, Gunawardena S, Balcom JR, et al. Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. Mol Genet Genomic Med. 2017;5(5):553-569doi: 10.1002/mgg3.317.
DeRycke, M. S., Gunawardena, S., Balcom, J. R., Pickart, A. M., Waltman, L. A., French, A. J., McDonnell, S., Riska, S. M., Fogarty, Z. C., Larson, M. C., Middha, S., Eckloff, B. W., Asmann, Y. W., Ferber, M. J., Haile, R. W., Gallinger, S., Clendenning, M., Rosty, C., Win, A. K., Buchanan, D. D., Hopper, J. L., Newcomb, P. A., Le Marchand, L., Goode, E. L., Lindor, N. M., & Thibodeau, S. N. (2017). Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. Molecular genetics & genomic medicine, 5(5), 553-569. https://doi.org/10.1002/mgg3.317
DeRycke, Melissa S, et al. "Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes." Molecular genetics & genomic medicine vol. 5,5 (2017): 553-569. doi: https://doi.org/10.1002/mgg3.317
DeRycke MS, Gunawardena S, Balcom JR, Pickart AM, Waltman LA, French AJ, McDonnell S, Riska SM, Fogarty ZC, Larson MC, Middha S, Eckloff BW, Asmann YW, Ferber MJ, Haile RW, Gallinger S, Clendenning M, Rosty C, Win AK, Buchanan DD, Hopper JL, Newcomb PA, Le Marchand L, Goode EL, Lindor NM, Thibodeau SN. Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. Mol Genet Genomic Med. 2017 Jul 23;5(5):553-569. doi: 10.1002/mgg3.317. eCollection 2017 Sep. PMID: 28944238; PMCID: PMC5606870.
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Genomic Characterization of Upper-Tract Urothelial Carcinoma in Patients With Lynch Syndrome.

JCO precision oncology

Donahu TF, Bagrodia A, Audenet F, Donoghue MTA, Cha EK, Sfakianos JP, Sperling D, Al-Ahmadie H, Clendenning M, Rosty C, Buchanan DD, Jenkins M, Hopper J, Winship I, Templeton AS, Walsh MF, Stadler ZK, Iyer G, Taylor B, Coleman J, Lindor NM, Solit DB, Bochner BH.
PMID: 30854504
JCO Precis Oncol. 2018;2018. doi: 10.1200/PO.17.00143.

PURPOSE: Patients with Lynch syndrome (LS) have a significantly increased risk of developing upper-tract urothelial carcinoma (UTUC). Here, we sought to identify differences in the patterns of mutational changes in LS-associated versus sporadic UTUCs.PATIENTS AND METHODS: We performed targeted...

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Donahu TF, Bagrodia A, Audenet F, et al. Genomic Characterization of Upper-Tract Urothelial Carcinoma in Patients With Lynch Syndrome. JCO Precis Oncol. 2018;2018doi: 10.1200/PO.17.00143.
Donahu, T. F., Bagrodia, A., Audenet, F., Donoghue, M. T. A., Cha, E. K., Sfakianos, J. P., Sperling, D., Al-Ahmadie, H., Clendenning, M., Rosty, C., Buchanan, D. D., Jenkins, M., Hopper, J., Winship, I., Templeton, A. S., Walsh, M. F., Stadler, Z. K., Iyer, G., Taylor, B., Coleman, J., Lindor, N. M., Solit, D. B., & Bochner, B. H. (2018). Genomic Characterization of Upper-Tract Urothelial Carcinoma in Patients With Lynch Syndrome. JCO precision oncology, 2018. https://doi.org/10.1200/PO.17.00143
Donahu, Timothy F, et al. "Genomic Characterization of Upper-Tract Urothelial Carcinoma in Patients With Lynch Syndrome." JCO precision oncology vol. 2018 (2018). doi: https://doi.org/10.1200/PO.17.00143
Donahu TF, Bagrodia A, Audenet F, Donoghue MTA, Cha EK, Sfakianos JP, Sperling D, Al-Ahmadie H, Clendenning M, Rosty C, Buchanan DD, Jenkins M, Hopper J, Winship I, Templeton AS, Walsh MF, Stadler ZK, Iyer G, Taylor B, Coleman J, Lindor NM, Solit DB, Bochner BH. Genomic Characterization of Upper-Tract Urothelial Carcinoma in Patients With Lynch Syndrome. JCO Precis Oncol. 2018;2018. doi: 10.1200/PO.17.00143. PMID: 30854504; PMCID: PMC6404976.
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Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.

Gut

Georgeson P, Pope BJ, Rosty C, Clendenning M, Mahmood K, Joo JE, Walker R, Hutchinson RA, Preston S, Como J, Joseland S, Win AK, Macrae FA, Hopper JL, Mouradov D, Gibbs P, Sieber OM, O'Sullivan DE, Brenner DR, Gallinger S, Jenkins MA, Winship IM, Buchanan DD.
PMID: 33414168
Gut. 2021 Nov;70(11):2138-2149. doi: 10.1136/gutjnl-2019-320462. Epub 2021 Jan 07.

OBJECTIVE: Germline pathogenic variants (PVs) in the DNA mismatch repair (MMR) genes and in the base excision repair gene DESIGN: Whole-exome sequencing of formalin-fixed paraffin-embedded (FFPE) CRC tissue was performed on 33 MMR germline PV carriers, 12 biallelic RESULTS:...

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Georgeson P, Pope BJ, Rosty C, et al. Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers. Gut. 2021;70(11):2138-2149doi: 10.1136/gutjnl-2019-320462.
Georgeson, P., Pope, B. J., Rosty, C., Clendenning, M., Mahmood, K., Joo, J. E., Walker, R., Hutchinson, R. A., Preston, S., Como, J., Joseland, S., Win, A. K., Macrae, F. A., Hopper, J. L., Mouradov, D., Gibbs, P., Sieber, O. M., O'Sullivan, D. E., Brenner, D. R., Gallinger, S., Jenkins, M. A., Winship, I. M., & Buchanan, D. D. (2021). Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers. Gut, 70(11), 2138-2149. https://doi.org/10.1136/gutjnl-2019-320462
Georgeson, Peter, et al. "Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers." Gut vol. 70,11 (2021): 2138-2149. doi: https://doi.org/10.1136/gutjnl-2019-320462
Georgeson P, Pope BJ, Rosty C, Clendenning M, Mahmood K, Joo JE, Walker R, Hutchinson RA, Preston S, Como J, Joseland S, Win AK, Macrae FA, Hopper JL, Mouradov D, Gibbs P, Sieber OM, O'Sullivan DE, Brenner DR, Gallinger S, Jenkins MA, Winship IM, Buchanan DD. Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers. Gut. 2021 Nov;70(11):2138-2149. doi: 10.1136/gutjnl-2019-320462. Epub 2021 Jan 07. PMID: 33414168; PMCID: PMC8260632.
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Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome.

The Journal of molecular diagnostics : JMD

Pope BJ, Clendenning M, Rosty C, Mahmood K, Georgeson P, Joo JE, Walker R, Hutchinson RA, Jayasekara H, Joseland S, Como J, Preston S, Spurdle AB, Macrae FA, Win AK, Hopper JL, Jenkins MA, Winship IM, Buchanan DD.
PMID: 33383211
J Mol Diagn. 2021 Mar;23(3):358-371. doi: 10.1016/j.jmoldx.2020.12.003. Epub 2020 Dec 29.

Patients in whom mismatch repair (MMR)-deficient cancer develops in the absence of pathogenic variants of germline MMR genes or somatic hypermethylation of the MLH1 gene promoter are classified as having suspected Lynch syndrome (SLS). Germline whole-genome sequencing (WGS) and...

Cite
Pope BJ, Clendenning M, Rosty C, et al. Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome. J Mol Diagn. 2020;23(3):358-371doi: 10.1016/j.jmoldx.2020.12.003.
Pope, B. J., Clendenning, M., Rosty, C., Mahmood, K., Georgeson, P., Joo, J. E., Walker, R., Hutchinson, R. A., Jayasekara, H., Joseland, S., Como, J., Preston, S., Spurdle, A. B., Macrae, F. A., Win, A. K., Hopper, J. L., Jenkins, M. A., Winship, I. M., & Buchanan, D. D. (2021). Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome. The Journal of molecular diagnostics : JMD, 23(3), 358-371. https://doi.org/10.1016/j.jmoldx.2020.12.003
Pope, Bernard J, et al. "Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome." The Journal of molecular diagnostics : JMD vol. 23,3 (2021): 358-371. doi: https://doi.org/10.1016/j.jmoldx.2020.12.003
Pope BJ, Clendenning M, Rosty C, Mahmood K, Georgeson P, Joo JE, Walker R, Hutchinson RA, Jayasekara H, Joseland S, Como J, Preston S, Spurdle AB, Macrae FA, Win AK, Hopper JL, Jenkins MA, Winship IM, Buchanan DD. Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome. J Mol Diagn. 2021 Mar;23(3):358-371. doi: 10.1016/j.jmoldx.2020.12.003. Epub 2020 Dec 29. PMID: 33383211; PMCID: PMC7927277.
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How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry.

Journal of community genetics

Keogh LA, Fisher D, Sheinfeld Gorin S, Schully SD, Lowery JT, Ahnen DJ, Maskiell JA, Lindor NM, Hopper JL, Burnett T, Holter S, Arnold JL, Gallinger S, Laurino M, Esplen MJ, Sinicrope PS.
PMID: 23703702
J Community Genet. 2014 Apr;5(2):99-108. doi: 10.1007/s12687-013-0148-y. Epub 2013 May 24.

There is consensus internationally that research participants should be offered the opportunity to receive clinically relevant genetic information identified through research, but there is little empirical peer-reviewed work documenting this process. We report the experience of conducting genetic research...

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Keogh LA, Fisher D, Sheinfeld Gorin S, et al. How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry. J Community Genet. 2013;5(2):99-108doi: 10.1007/s12687-013-0148-y.
Keogh, L. A., Fisher, D., Sheinfeld Gorin, S., Schully, S. D., Lowery, J. T., Ahnen, D. J., Maskiell, J. A., Lindor, N. M., Hopper, J. L., Burnett, T., Holter, S., Arnold, J. L., Gallinger, S., Laurino, M., Esplen, M. J., Sinicrope, P. S. (2014). How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry. Journal of community genetics, 5(2), 99-108. https://doi.org/10.1007/s12687-013-0148-y
Keogh, Louise A, et al. "How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry." Journal of community genetics vol. 5,2 (2014): 99-108. doi: https://doi.org/10.1007/s12687-013-0148-y
Keogh LA, Fisher D, Sheinfeld Gorin S, Schully SD, Lowery JT, Ahnen DJ, Maskiell JA, Lindor NM, Hopper JL, Burnett T, Holter S, Arnold JL, Gallinger S, Laurino M, Esplen MJ, Sinicrope PS. How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry. J Community Genet. 2014 Apr;5(2):99-108. doi: 10.1007/s12687-013-0148-y. Epub 2013 May 24. PMID: 23703702; PMCID: PMC3955463.
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Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome.

Genes & cancer

Win AK, Clendenning M, Crawford W, Rosty C, Preston SG, Southey MC, Parry S, Giles GG, Macrae FA, Winship IM, Baron JA, Hopper JL, Jenkins MA, Buchanan DD.
PMID: 26807197
Genes Cancer. 2015 Nov;6(11):445-51. doi: 10.18632/genesandcancer.85.

Lynch syndrome is an inherited cancer-predisposing disorder caused by germline mutations in the DNA mismatch repair (MMR) genes but there is a high degree of variability in cancer risk observed among carriers, suggesting the existence of modifying factors. Our...

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Win AK, Clendenning M, Crawford W, et al. Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome. Genes Cancer. 2015;6(11):445-51doi: 10.18632/genesandcancer.85.
Win, A. K., Clendenning, M., Crawford, W., Rosty, C., Preston, S. G., Southey, M. C., Parry, S., Giles, G. G., Macrae, F. A., Winship, I. M., Baron, J. A., Hopper, J. L., Jenkins, M. A., & Buchanan, D. D. (2015). Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome. Genes & cancer, 6(11), 445-51. https://doi.org/10.18632/genesandcancer.85
Win, Aung Ko, et al. "Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome." Genes & cancer vol. 6,11 (2015): 445-51. doi: https://doi.org/10.18632/genesandcancer.85
Win AK, Clendenning M, Crawford W, Rosty C, Preston SG, Southey MC, Parry S, Giles GG, Macrae FA, Winship IM, Baron JA, Hopper JL, Jenkins MA, Buchanan DD. Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome. Genes Cancer. 2015 Nov;6(11):445-51. doi: 10.18632/genesandcancer.85. PMID: 26807197; PMCID: PMC4701223.
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Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.

Gut

Georgeson P, Pope BJ, Rosty C, Clendenning M, Mahmood K, Joo JE, Walker R, Hutchinson RA, Preston S, Como J, Joseland S, Win AK, Macrae FA, Hopper JL, Mouradov D, Gibbs P, Sieber OM, O'Sullivan DE, Brenner DR, Gallinger S, Jenkins MA, Winship IM, Buchanan DD.
PMID: 33414168
Gut. 2021 Nov;70(11):2138-2149. doi: 10.1136/gutjnl-2019-320462. Epub 2021 Jan 07.

OBJECTIVE: Germline pathogenic variants (PVs) in the DNA mismatch repair (MMR) genes and in the base excision repair gene DESIGN: Whole-exome sequencing of formalin-fixed paraffin-embedded (FFPE) CRC tissue was performed on 33 MMR germline PV carriers, 12 biallelic RESULTS:...

Cite
Georgeson P, Pope BJ, Rosty C, et al. Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers. Gut. 2021;70(11):2138-2149doi: 10.1136/gutjnl-2019-320462.
Georgeson, P., Pope, B. J., Rosty, C., Clendenning, M., Mahmood, K., Joo, J. E., Walker, R., Hutchinson, R. A., Preston, S., Como, J., Joseland, S., Win, A. K., Macrae, F. A., Hopper, J. L., Mouradov, D., Gibbs, P., Sieber, O. M., O'Sullivan, D. E., Brenner, D. R., Gallinger, S., Jenkins, M. A., Winship, I. M., & Buchanan, D. D. (2021). Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers. Gut, 70(11), 2138-2149. https://doi.org/10.1136/gutjnl-2019-320462
Georgeson, Peter, et al. "Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers." Gut vol. 70,11 (2021): 2138-2149. doi: https://doi.org/10.1136/gutjnl-2019-320462
Georgeson P, Pope BJ, Rosty C, Clendenning M, Mahmood K, Joo JE, Walker R, Hutchinson RA, Preston S, Como J, Joseland S, Win AK, Macrae FA, Hopper JL, Mouradov D, Gibbs P, Sieber OM, O'Sullivan DE, Brenner DR, Gallinger S, Jenkins MA, Winship IM, Buchanan DD. Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers. Gut. 2021 Nov;70(11):2138-2149. doi: 10.1136/gutjnl-2019-320462. Epub 2021 Jan 07. PMID: 33414168; PMCID: PMC8260632.
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