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1.

Intratumoral presence of the genotoxic gut bacteria pks⁺ E. coli, Enterotoxigenic Bacteroides fragilis, and Fusobacterium nucleatum and their association with clinicopathological and molecular features of colorectal cancer.

Joo, Jihoon E; Chu, Yen Lin; Georgeson, Peter; Walker, Romy; Mahmood, Khalid; Clendenning, Mark; Meyers, Aaron L; Como, Julia; Joseland, Sharelle; Preston, Susan G; Diepenhorst, Natalie; Toner, Julie; Ingle, Danielle J; Sherry, Norelle L; Metz, Andrew; Lynch, Brigid M; Milne, Roger L; Southey, Melissa C; Hopper, John L; Win, Aung Ko; Macrae, Finlay A; Winship, Ingrid M; Rosty, Christophe; Jenkins, Mark A; Buchanan, Daniel D.

Br J Cancer; 130(5): 728-740, 2024 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-38200234

2.

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.

Walker, Romy; Mahmood, Khalid; Joo, Jihoon E; Clendenning, Mark; Georgeson, Peter; Como, Julia; Joseland, Sharelle; Preston, Susan G; Antill, Yoland; Austin, Rachel; Boussioutas, Alex; Bowman, Michelle; Burke, Jo; Campbell, Ainsley; Daneshvar, Simin; Edwards, Emma; Gleeson, Margaret; Goodwin, Annabel; Harris, Marion T; Henderson, Alex; Higgins, Megan; Hopper, John L; Hutchinson, Ryan A; Ip, Emilia; Isbister, Joanne; Kasem, Kais; Marfan, Helen; Milnes, Di; Ng, Annabelle; Nichols, Cassandra; O'Connell, Shona; Pachter, Nicholas; Pope, Bernard J; Poplawski, Nicola; Ragunathan, Abiramy; Smyth, Courtney; Spigelman, Allan; Storey, Kirsty; Susman, Rachel; Taylor, Jessica A; Warwick, Linda; Wilding, Mathilda; Williams, Rachel; Win, Aung K; Walsh, Michael D; Macrae, Finlay A; Jenkins, Mark A; Rosty, Christophe; Winship, Ingrid M; Buchanan, Daniel D.

J Transl Med; 21(1): 282, 2023 04 26.

Artículo en Inglés | MEDLINE | ID: mdl-37101184

3.

Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.

Georgeson, Peter; Pope, Bernard J; Rosty, Christophe; Clendenning, Mark; Mahmood, Khalid; Joo, Jihoon E; Walker, Romy; Hutchinson, Ryan A; Preston, Susan; Como, Julia; Joseland, Sharelle; Win, Aung Ko; Macrae, Finlay A; Hopper, John L; Mouradov, Dmitri; Gibbs, Peter; Sieber, Oliver M; O'Sullivan, Dylan E; Brenner, Darren R; Gallinger, Steve; Jenkins, Mark A; Winship, Ingrid M; Buchanan, Daniel D.

Gut; 70(11): 2138-2149, 2021 11.

Artículo en Inglés | MEDLINE | ID: mdl-33414168

4.

Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts.

Buchanan, Daniel D; Clendenning, Mark; Rosty, Christophe; Eriksen, Stine V; Walsh, Michael D; Walters, Rhiannon J; Thibodeau, Stephen N; Stewart, Jenna; Preston, Susan; Win, Aung Ko; Flander, Louisa; Ouakrim, Driss Ait; Macrae, Finlay A; Boussioutas, Alex; Winship, Ingrid M; Giles, Graham G; Hopper, John L; Southey, Melissa C; English, Dallas; Jenkins, Mark A.

J Gastroenterol Hepatol; 32(2): 427-438, 2017 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-27273229

5.

Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.

Chan, James M; Clendenning, Mark; Joseland, Sharelle; Georgeson, Peter; Mahmood, Khalid; Joo, Jihoon E; Walker, Romy; Como, Julia; Preston, Susan; Chai, Shuyi Marci; Chu, Yen Lin; Meyers, Aaron L; Pope, Bernard J; Duggan, David; Fink, J Lynn; Macrae, Finlay A; Rosty, Christophe; Winship, Ingrid M; Jenkins, Mark A; Buchanan, Daniel D.

Fam Cancer; 23(1): 9-21, 2024 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-38063999

6.

A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report.

Walker, Romy; Clendenning, Mark; Joo, Jihoon E; Xue, Jessie; Mahmood, Khalid; Georgeson, Peter; Como, Julia; Joseland, Sharelle; Preston, Susan G; Chan, James M; Jenkins, Mark A; Rosty, Christophe; Macrae, Finlay A; Di Palma, Stephanie; Campbell, Ainsley; Winship, Ingrid M; Buchanan, Daniel D.

Fam Cancer; 22(4): 423-428, 2023 10.

Artículo en Inglés | MEDLINE | ID: mdl-37318702

7.

Evaluating Multiple Next-Generation Sequencing-Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status.

Walker, Romy; Georgeson, Peter; Mahmood, Khalid; Joo, Jihoon E; Makalic, Enes; Clendenning, Mark; Como, Julia; Preston, Susan; Joseland, Sharelle; Pope, Bernard J; Hutchinson, Ryan A; Kasem, Kais; Walsh, Michael D; Macrae, Finlay A; Win, Aung K; Hopper, John L; Mouradov, Dmitri; Gibbs, Peter; Sieber, Oliver M; O'Sullivan, Dylan E; Brenner, Darren R; Gallinger, Steven; Jenkins, Mark A; Rosty, Christophe; Winship, Ingrid M; Buchanan, Daniel D.

J Mol Diagn; 25(2): 94-109, 2023 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-36396080

8.

Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers.

Joo, Jihoon E; Mahmood, Khalid; Walker, Romy; Georgeson, Peter; Candiloro, Ida; Clendenning, Mark; Como, Julia; Joseland, Sharelle; Preston, Susan; Graversen, Lise; Wilding, Mathilda; Field, Michael; Lemon, Michelle; Wakeling, Janette; Marfan, Helen; Susman, Rachel; Isbister, Joanne; Edwards, Emma; Bowman, Michelle; Kirk, Judy; Ip, Emilia; McKay, Lynne; Antill, Yoland; Hopper, John L; Boussioutas, Alex; Macrae, Finlay A; Dobrovic, Alexander; Jenkins, Mark A; Rosty, Christophe; Winship, Ingrid M; Buchanan, Daniel D.

Clin Epigenetics; 15(1): 95, 2023 06 03.

Artículo en Inglés | MEDLINE | ID: mdl-37270516

9.

DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.

Walker, Romy; Mahmood, Khalid; Como, Julia; Clendenning, Mark; Joo, Jihoon E; Georgeson, Peter; Joseland, Sharelle; Preston, Susan G; Pope, Bernard J; Chan, James M; Austin, Rachel; Bojadzieva, Jasmina; Campbell, Ainsley; Edwards, Emma; Gleeson, Margaret; Goodwin, Annabel; Harris, Marion T; Ip, Emilia; Kirk, Judy; Mansour, Julia; Mar Fan, Helen; Nichols, Cassandra; Pachter, Nicholas; Ragunathan, Abiramy; Spigelman, Allan; Susman, Rachel; Christie, Michael; Jenkins, Mark A; Pai, Rish K; Rosty, Christophe; Macrae, Finlay A; Winship, Ingrid M; Buchanan, Daniel D.

Cancers (Basel); 15(20)2023 Oct 10.

Artículo en Inglés | MEDLINE | ID: mdl-37894291

10.

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.

Walker, Romy; Mahmood, Khalid; Joo, Jihoon E; Clendenning, Mark; Georgeson, Peter; Como, Julia; Joseland, Sharelle; Preston, Susan G; Antill, Yoland; Austin, Rachel; Boussioutas, Alex; Bowman, Michelle; Burke, Jo; Campbell, Ainsley; Daneshvar, Simin; Edwards, Emma; Gleeson, Margaret; Goodwin, Annabel; Harris, Marion T; Henderson, Alex; Higgins, Megan; Hopper, John L; Hutchinson, Ryan A; Ip, Emilia; Isbister, Joanne; Kasem, Kais; Marfan, Helen; Milnes, Di; Ng, Annabelle; Nichols, Cassandra; O'Connell, Shona; Pachter, Nicholas; Pope, Bernard J; Poplawski, Nicola; Ragunathan, Abiramy; Smyth, Courtney; Spigelman, Allan; Storey, Kirsty; Susman, Rachel; Taylor, Jessica A; Warwick, Linda; Wilding, Mathilda; Williams, Rachel; Win, Aung K; Walsh, Michael D; Macrae, Finlay A; Jenkins, Mark A; Rosty, Christophe; Winship, Ingrid M; Buchanan, Daniel D.

medRxiv; 2023 Mar 01.

Artículo en Inglés | MEDLINE | ID: mdl-36909643

11.

Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.

Chan, James M; Clendenning, Mark; Joseland, Sharelle; Georgeson, Peter; Mahmood, Khalid; Walker, Romy; Como, Julia; Joo, Jihoon E; Preston, Susan; Hutchinson, Ryan A; Pope, Bernard J; Metz, Andrew; Beard, Catherine; Purvis, Rebecca; Arnold, Julie; Vijay, Varnika; Konycheva, Galina; Atkinson, Nathan; Parry, Susan; Jenkins, Mark A; Macrae, Finlay A; Rosty, Christophe; Winship, Ingrid M; Buchanan, Daniel D.

Fam Cancer; 21(4): 399-413, 2022 10.

Artículo en Inglés | MEDLINE | ID: mdl-34817745

12.

Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome.

Pope, Bernard J; Clendenning, Mark; Rosty, Christophe; Mahmood, Khalid; Georgeson, Peter; Joo, Jihoon E; Walker, Romy; Hutchinson, Ryan A; Jayasekara, Harindra; Joseland, Sharelle; Como, Julia; Preston, Susan; Spurdle, Amanda B; Macrae, Finlay A; Win, Aung K; Hopper, John L; Jenkins, Mark A; Winship, Ingrid M; Buchanan, Daniel D.

J Mol Diagn; 23(3): 358-371, 2021 03.

Artículo en Inglés | MEDLINE | ID: mdl-33383211

13.

DNA Methylation Signatures and the Contribution of Age-Associated Methylomic Drift to Carcinogenesis in Early-Onset Colorectal Cancer.

Joo, Jihoon E; Clendenning, Mark; Wong, Ee Ming; Rosty, Christophe; Mahmood, Khalid; Georgeson, Peter; Winship, Ingrid M; Preston, Susan G; Win, Aung Ko; Dugué, Pierre-Antoine; Jayasekara, Harindra; English, Dallas; Macrae, Finlay A; Hopper, John L; Jenkins, Mark A; Milne, Roger L; Giles, Graham G; Southey, Melissa C; Buchanan, Daniel D.

Cancers (Basel); 13(11)2021 May 25.

Artículo en Inglés | MEDLINE | ID: mdl-34070516

14.

Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas.

Clendenning, Mark; Huang, Alvin; Jayasekara, Harindra; Lorans, Marie; Preston, Susan; O'Callaghan, Neil; Pope, Bernard J; Macrae, Finlay A; Winship, Ingrid M; Milne, Roger L; Giles, Graham G; English, Dallas R; Hopper, John L; Win, Aung K; Jenkins, Mark A; Southey, Melissa C; Rosty, Christophe; Buchanan, Daniel D.

Fam Cancer; 17(1): 91-100, 2018 01.

Artículo en Inglés | MEDLINE | ID: mdl-28616688

15.

Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome.

Win, Aung Ko; Clendenning, Mark; Crawford, William; Rosty, Christophe; Preston, Susan G; Southey, Melissa C; Parry, Susan; Giles, Graham G; Macrae, Finlay A; Winship, Ingrid M; Baron, John A; Hopper, John L; Jenkins, Mark A; Buchanan, Daniel D.

Genes Cancer; 6(11-12): 445-51, 2015 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-26807197

16.

Straight talk: new approaches in healthcare. The digital hospital comes of age.

Fisher, James E; Bands, James; Bowlen, Neal; Holbrook-Preston, Susan.

Mod Healthc; 32(43): 59-62, 2002 Oct 28.

Artículo en Inglés | MEDLINE | ID: mdl-12436782

17.

How to talk an elderly patient off the road.

Preston, Susan Harrington.

Med Econ; 79(10): 45-6, 49, 2002 May 24.

Artículo en Inglés | MEDLINE | ID: mdl-12066325

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Intratumoral presence of the genotoxic gut bacteria pks⁺ E. coli, Enterotoxigenic Bacteroides fragilis, and Fusobacterium nucleatum and their association with clinicopathological and molecular features of colorectal cancer.

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.

Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.

Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts.

Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.

A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report.

Evaluating Multiple Next-Generation Sequencing-Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status.

Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers.

DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.

Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.

Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome.

DNA Methylation Signatures and the Contribution of Age-Associated Methylomic Drift to Carcinogenesis in Early-Onset Colorectal Cancer.

Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas.

Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome.

Straight talk: new approaches in healthcare. The digital hospital comes of age.

How to talk an elderly patient off the road.