Dr Peter Georgeson
I am a postdoctoral cancer researcher based at The University of Melbourne in Associate Professor Dan Buchanan's Colorectal Oncogenomics Group.
I have an ongoing interest in cancer genomics, statistical methods, and machine learning. My current research focuses on the application of tumour mutational signatures to understanding and detecting the underlying aetiology driving different sub-types of colorectal cancer.
Research Interests: mutational signatures, colorectal cancer, statistical learning, genomics, bioinformatics.
✉️ peter.georgeson AT unimelb.edu.au
Publications
Genomic characterization of colorectal tumors: insights into significantly mutated genes, pathways, and survival outcomes. Harrison, Tabitha A.; Zaidi, Syed H.; Yin, Hang; Steinfelder, Robert S.; Qu, Conghui; Aglago, Elom K.; Berndt, Sonja I.; Boardman, Lisa A.; Brenner, Hermann; Buchanan, Daniel D.; Campbell, Peter T.; Cao, Yin; Chan, Andrew T.; Chanock, Stephen J.; Doheny, Kimberly F.; Drew, David A.; Figueiredo, Jane C.; French, Amy J.; Gallinger, Steven; Georgeson, Peter; Giannakis, Marios; Goode, Ellen L.; Gruber, Stephen B.; Gsur, Andrea; Gunter, Marc J.; Harlid, Sophia; Hoffmeister, Michael; Huang, Wen-Yi; Hullar, Meredith AJ.; Huyghe, Jeroen R.; Jenkins, Mark A.; Lin, Yi; Moreno, Victor; Murphy, Neil; Newcomb, Polly A.; Newton, Christina C.; Nowak, Jonathan A.; Obón-Santacana, Mireia; Ogino, Shuji; Shelford, Tameka; Song, Mingyang; Thomas, Claire E.; Toland, Amanda E.; Ugai, Tomotaka; Um, Caroline Y.; Van Guelpen, Bethany; Trinh, Quang M.; Sun, Wei; Hudson, Thomas J.; Hsu, Li; Peters, Ulrike; Phipps, Amanda I.BMC Cancer. 2025.
Germline MLH1 c.-42 C > T is a likely pathogenic variant predisposing to a reduced-penetrance/modified Lynch syndrome phenotype featuring MLH1-methylated cancers. Buchanan, Daniel D.; Alvarez, Rocio; Mahmood, Khalid; Clendenning, Mark; Georgeson, Peter; Walker, Romy; Como, Julia; Preston, Susan G.; Joseland, Sharelle; Mohammadsaeedi, Kimia; Aguirre, Francesca; Zhou, Lisa; Hazelett, Dennis J.; Jenkins, Mark A.; Rosty, Christophe; Winship, Ingrid M.; Macrae, Finlay A.; Dwarte, Tanya M.; Nixon, Dawn; Hitchins, Megan P.; Joo, Jihoon E.Familial Cancer. 2026.
Causes of DNA mismatch repair deficiency in sebaceous skin lesions demonstrating loss of MLH1 protein expression: constitutional over somatic MLH1 promoter methylation. Joo, Jihoon E.; Mahmood, Khalid; Clendenning, Mark; Walker, Romy; Georgeson, Peter; Como, Julia; Jenkins, Mark A.; Walsh, Michael D.; Winship, Ingrid M.; Buchanan, Daniel D.Familial Cancer. 2025.
Physical activity and molecular subtypes of colorectal cancer: a pooled observational analysis and Mendelian randomization study. Chalitsios, Christos V; Markozannes, Georgios; Aglago, Elom K; Berndt, Sonja I; Buchanan, Daniel D; Campbell, Peter T; Cao, Yin; Chan, Andrew T; Dimou, Niki; Drew, David A; French, Amy J; Georgeson, Peter; Giannakis, Marios; Gruber, Stephen B; Gunter, Marc J; Harrison, Tabitha A; Hoffmeister, Michael; Hsu, Li; Huang, Wen-Yi; Hullar, Meredith A J; Huyghe, Jeroen R; Lynch, Brigid M; Moreno, Victor; Murphy, Neil; Newton, Christina C; Nowak, Jonathan A; Obón-Santacana, Mireia; Ogino, Shuji; Qu, Conghui; Schmit, Stephanie L; Steinfelder, Robert S; Sun, Wei; Thomas, Claire E; Toland, Amanda E; Trinh, Quang M; Ugai, Tomotaka; Um, Caroline Y; Guelpen, Bethany Van; Zaidi, Syed H; Schoen, Robert E; Woods, Michael O; Brenner, Hermann; Andreson, Laura; Pellatt, Andrew J; Peters, Ulrike; Phipps, Amanda I; Tsilidis, Konstantinos KJNCI Cancer Spectrum. 2025.
The Germline and Somatic Origins of Prostate Cancer Heterogeneity. Yamaguchi, Takafumi N.; Houlahan, Kathleen E.; Zhu, Helen; Kurganovs, Natalie; Livingstone, Julie; Fox, Natalie S.; Yuan, Jiapei; Sietsma Penington, Jocelyn; Jung, Chol-Hee; Schwarz, Tommer; Jaratlerdsiri, Weerachai; van Riet, Job; Georgeson, Peter; Mangiola, Stefano; Taraszka, Kodi; Lesurf, Robert; Jiang, Jue; Chow, Ken; Heisler, Lawrence E.; Shiah, Yu-Jia; Ramanand, Susmita G.; Clarkson, Michael J.; Nguyen, Anne; Espiritu, Shadrielle Melijah G.; Stuchbery, Ryan; Jovelin, Richard; Huang, Vincent; Bell, Connor; O’Connor, Edward; McCoy, Patrick J.; Lalansingh, Christopher M.; Cmero, Marek; Salcedo, Adriana; Chan, Eva K.F.; Liu, Lydia Y.; Stricker, Phillip D.; Bhandari, Vinayak; Bornman, Riana M.S.; Sendorek, Dorota H.S.; Lonie, Andrew; Prokopec, Stephenie D.; Fraser, Michael; Peters, Justin S.; Foucal, Adrien; Mutambirwa, Shingai B.A.; Mcintosh, Lachlan; Orain, Michèle; Wakefield, Matthew; Picard, Valérie; Park, Daniel J.; Hovington, Hélène; Kerger, Michael; Bergeron, Alain; Sabelnykova, Veronica; Seo, Ji-Heui; Pomerantz, Mark M.; Zaitlen, Noah; Waszak, Sebastian M.; Gusev, Alexander; Lacombe, Louis; Fradet, Yves; Ryan, Andrew; Kishan, Amar U.; Lolkema, Martijn P.; Weischenfeldt, Joachim; Têtu, Bernard; Costello, Anthony J.; Hayes, Vanessa M.; Hung, Rayjean J.; He, Housheng H.; McPherson, John D.; Pasaniuc, Bogdan; van der Kwast, Theodorus; Papenfuss, Anthony T.; Freedman, Matthew L.; Pope, Bernard J.; Bristow, Robert G.; Mani, Ram S.; Corcoran, Niall M.; Reimand, Jüri; Hovens, Christopher M.; Boutros, Paul C.Cancer Discovery. 2025.
The germline POLD1 c.1420 C > A (p.Leu474Ile) variant segregates with endometrial cancer, colorectal cancer and colonic polyps demonstrating hypermutation and defective POLD1 mutational signatures. Buchanan, Daniel D.; Georgeson, Peter; Walker, Romy; Joo, Jihoon E.; Clendenning, Mark; Como, Julia; O’Keeffe, Ryan; Prisc, Alysha; Chu, Yen Lin; Jenkins, Mark A.; Rosty, Christophe; Winship, Ingrid M.; Macrae, Finlay A.; Ip, Emilia; Harris, Rebecca; Goodwin, Annabel; Mahmood, KhalidFamilial Cancer. 2025.
Intratumoural pks Escherichia coli is associated with risk of metachronous colorectal cancer and adenoma development in people with Lynch syndrome. Chu, Yen Lin; Georgeson, Peter; Clendenning, Mark; Mahmood, Khalid; Walker, Romy; Como, Julia; Joseland, Sharelle; Preston, Susan G.; Rice, Toni; Lynch, Brigid M.; Milne, Roger L.; Southey, Melissa C.; Giles, Graham G.; Phipps, Amanda I.; Hopper, John L.; Win, Aung K.; Rosty, Christophe; Macrae, Finlay A.; Winship, Ingrid; Jenkins, Mark A.; Buchanan, Daniel D.; Joo, Jihoon E.eBioMedicine. 2025.
Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications. Walker, Romy; Joo, Jihoon E.; Mahmood, Khalid; Clendenning, Mark; Como, Julia; Preston, Susan G.; Joseland, Sharelle; Pope, Bernard J.; Medeiros, Ana B.D.; Murillo, Brenely V.; Pachter, Nicholas; Sweet, Kevin; Spigelman, Allan D.; Groves, Alexandra; Gleeson, Margaret; Bernatowicz, Krzysztof; Poplawski, Nicola; Andrews, Lesley; Healey, Emma; Gallinger, Steven; Grant, Robert C.; Win, Aung K.; Hopper, John L.; Jenkins, Mark A.; Torrezan, Giovana T.; Rosty, Christophe; Macrae, Finlay A.; Winship, Ingrid M.; Buchanan, Daniel D.; Georgeson, PeterTranslational Oncology. 2025.
Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies. Chalitsios, Christos V.; Markozannes, Georgios; Papagiannopoulos, Christos; Aglago, Elom K.; Berndt, Sonja I.; Buchanan, Daniel D.; Campbell, Peter T.; Cao, Yin; Chan, Andrew T.; Dimou, Niki; Drew, David A.; French, Amy J.; Georgeson, Peter; Giannakis, Marios; Gruber, Stephen B.; Gunter, Marc J.; Harrison, Tabitha A.; Hoffmeister, Michael; Hsu, Li; Huang, Wen-Yi; Hullar, Meredith A.J.; Huyghe, Jeroen R.; Lynch, Brigid M.; Moreno, Victor; Newton, Christina C.; Nowak, Jonathan A.; Obón-Santacana, Mireia; Ogino, Shuji; Qu, Conghui; Schmit, Stephanie L.; Steinfelder, Robert S.; Sun, Wei; Thomas, Claire E.; Toland, Amanda E.; Trinh, Quang M.; Ugai, Tomotaka; Um, Caroline Y.; Van Guelpen, Bethany; Zaidi, Syed H.; Murphy, Neil; Peters, Ulrike; Phipps, Amanda I.; Tsilidis, Konstantinos K.Cancer Epidemiology, Biomarkers & Prevention. 2025.
DNA Mismatch Repair Gene Mosaicism Is Rare in People With Mismatch Repair-Deficient Cancers. Walker, Romy; Joo, Jihoon E.; Mahmood, Khalid; Georgeson, Peter; Clendenning, Mark; Joseland, Sharelle; Como, Julia; Preston, Susan G.; Stoss, Sarah; Rosty, Christophe; Pope, Bernard J.; Macrae, Finlay A.; Win, Aung K.; Hopper, John L.; Jenkins, Mark A.; Potter, John D.; Samadder, N. Jewel; Walsh, Michael D.; Winship, Ingrid M.; Buchanan, Daniel D.Gastroenterology. 2025.
Body size and risk of colorectal cancer molecular defined subtypes and pathways: Mendelian randomization analyses. Papadimitriou, Nikos; Qu, Conghui; Harrison, Tabitha A.; Bever, Alaina M.; Martin, Richard M.; Tsilidis, Konstantinos K.; Newcomb, Polly A.; Thibodeau, Stephen N.; Newton, Christina C.; Um, Caroline Y.; Obón-Santacana, Mireia; Moreno, Victor; Brenner, Hermann; Mandic, Marko; Chang-Claude, Jenny; Hoffmeister, Michael; Pellatt, Andrew J.; Schoen, Robert E.; Harlid, Sophia; Ogino, Shuji; Ugai, Tomotaka; Buchanan, Daniel D.; Lynch, Brigid M.; Gruber, Stephen B.; Cao, Yin; Hsu, Li; Huyghe, Jeroen R.; Lin, Yi; Steinfelder, Robert S.; Sun, Wei; Van Guelpen, Bethany; Zaidi, Syed H.; Toland, Amanda E.; Berndt, Sonja I.; Huang, Wen-Yi; Aglago, Elom K.; Drew, David A.; French, Amy J.; Georgeson, Peter; Giannakis, Marios; Hullar, Meredith; Nowak, Johnathan A.; Thomas, Claire E.; Le Marchand, Loic; Cheng, Iona; Gallinger, Steven; Jenkins, Mark A.; Gunter, Marc J.; Campbell, Peter T.; Peters, Ulrike; Song, Mingyang; Phipps, Amanda I.; Murphy, NeileBioMedicine. 2024.
Epidemiologic Factors in Relation to Colorectal Cancer Risk and Survival by Genotoxic Colibactin Mutational Signature. Thomas, Claire E.; Georgeson, Peter; Qu, Conghui; Steinfelder, Robert S.; Buchanan, Daniel D.; Song, Mingyang; Harrison, Tabitha A.; Um, Caroline Y.; Hullar, Meredith A.; Jenkins, Mark A.; Van Guelpen, Bethany; Lynch, Brigid M.; Melaku, Yohannes Adama; Huyghe, Jeroen R.; Aglago, Elom K.; Berndt, Sonja I.; Boardman, Lisa A.; Campbell, Peter T.; Cao, Yin; Chan, Andrew T.; Drew, David A.; Figueiredo, Jane C.; French, Amy J.; Giannakis, Marios; Goode, Ellen L.; Gruber, Stephen B.; Gsur, Andrea; Gunter, Marc J.; Hoffmeister, Michael; Hsu, Li; Huang, Wen-Yi; Moreno, Victor; Murphy, Neil; Newcomb, Polly A.; Newton, Christina C.; Nowak, Jonathan A.; Obón-Santacana, Mireia; Ogino, Shuji; Sun, Wei; Toland, Amanda E.; Trinh, Quang M.; Ugai, Tomotaka; Zaidi, Syed H.; Peters, Ulrike; Phipps, Amanda I.Cancer Epidemiology, Biomarkers & Prevention. 2024.
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.Familial Cancer. 2023.
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.British Journal of Cancer. 2024.
Folate intake and colorectal cancer risk according to genetic subtypes defined by targeted tumor sequencing. Aglago, Elom K; Qu, Conghui; Harlid, Sophia; Phipps, Amanda I; Steinfelder, Robert S; Ogino, Shuji; Thomas, Claire E; Hsu, Li; Toland, Amanda E; Brenner, Hermann; Berndt, Sonja I; Buchanan, Daniel D; Campbell, Peter T; Cao, Yin; Chan, Andrew T; Drew, David A; Figueiredo, Jane C; French, Amy J; Gallinger, Steven; Georgeson, Peter; Giannakis, Marios; Goode, Ellen L; Gruber, Stephen B; Gunter, Marc J; Harrison, Tabitha A; Hoffmeister, Michael; Huang, Wen-Yi; Hullar, Meredith AJ; Huyghe, Jeroen R; Jenkins, Mark A; Lynch, Brigid M; Moreno, Victor; Murphy, Neil; Newton, Christina C; Nowak, Jonathan A; Obón-Santacana, Mireia; Sun, Wei; Ugai, Tomotaka; Um, Caroline Y; Zaidi, Syed H; Tsilidis, Konstantinos K; van Guelpen, Bethany; Peters, UlrikeThe American Journal of Clinical Nutrition. 2024.
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.; Palma, Stephanie Di; Campbell, Ainsley; Winship, Ingrid M.; Buchanan, Daniel D.. 2023.
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.. 2023.
Body mass index and molecular subtypes of colorectal cancer. Murphy, Neil; Newton, Christina C; Song, Mingyang; Papadimitriou, Nikos; Hoffmeister, Michael; Phipps, Amanda I; Harrison, Tabitha A; Newcomb, Polly A; Aglago, Elom K; Berndt, Sonja I; Brenner, Hermann; Buchanan, Daniel D; Cao, Yin; Chan, Andrew T; Chen, Xuechen; Cheng, Iona; Chang-Claude, Jenny; Dimou, Niki; Drew, David; Farris, Alton B; French, Amy J; Gallinger, Steven; Georgeson, Peter; Giannakis, Marios; Giles, Graham G; Gruber, Stephen B; Harlid, Sophia; Hsu, Li; Huang, Wen-Yi; Jenkins, Mark A; Laskar, Ruhina S; Le Marchand, Loic; Limburg, Paul; Lin, Yi; Mandic, Marko; Nowak, Johnathan A; Obón-Santacana, Mereia; Ogino, Shuji; Qu, Conghui; Sakoda, Lori C; Schoen, Robert E; Southey, Melissa C; Stadler, Zsofia K; Steinfelder, Robert S; Sun, Wei; Thibodeau, Stephen N; Toland, Amanda E; Trinh, Quang M; Tsilidis, Kostas K; Ugai, Tomotaka; Van Guelpen, Bethany; Wang, Xiaoliang; Woods, Michael O; Zaidi, Syed H; Gunter, Marc J; Peters, Ulrike; Campbell, Peter TJNCI: Journal of the National Cancer Institute. 2022.
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. 2023.
Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes. Mahmood, Khalid; Thomas, Minta; Qu, Conghui; Wang, Xiaoliang; Huyghe, Jeroen R.; Joo, Jihoon E.; Georgeson, Peter; Arndt, Volker; Berndt, Sonja I.; Bézieau, Stéphane; Bien, Stephanie A.; Bishop, D. Timothy; Brenner, Hermann; Brezina, Stefanie; Burnett-Hartman, Andrea; Campbell, Peter T.; Casey, Graham; Castellví-Bel, Sergi; Chan, Andrew T.; Chang-Claude, Jenny; Chen, Xuechen; Conti, David V.; Cremolini, Chiara; Diergaarde, Brenda; Figueiredo, Jane C.; FitzGerald, Liesel M.; Gago-Dominguez, Manuela; Gallinger, Steven; Giles, Graham G.; Gsu, Andrea; Gunter, Marc J.; Hampe, Jochen; Hampel, Heather; Harrison, Tabitha A.; Hoffmeister, Michael; Keku, Temitope O.; Kundaje, Anshul; Le Marchand, Loic; Lenz, Heinz-Josef; Li, Christopher I.; Li, Li; Lin, Yi; Lindblom, Annika; Moreno, Victor; Murphy, Neil; Newcomb, Polly A.; Newton, Christina C.; Obón-Santacana, Mireia; Ogino, Shuji; Pai, Rish K.; Palmer, Julie R.; Pearlman, Rachel; Pharoah, Paul D.P.; Phipps, Amanda I.; Platz, Elizabeth A.; Potter, John D.; Rennert, Gad; Sakoda, Lori C.; Schafmayer, Clemens; Schmit, Stephanie L.; Schoen, Robert E.; Slattery, Martha L.; Stadler, Zsofia K.; Steinfelder, Robert S.; Thibodeau, Stephen N.; Ulrich, Cornelia M.; Um, Caroline Y.; van Duijnhoven, Franzel J.B.; Van Guelpen, Bethany; Visvanathan, Kala; Vodicka, Pavel; Vodickova, Ludmila; Vymetalkova, Veronika; Weinstein, Stephanie J.; White, Emily; Winship, Ingrid M.; Wolk, Alicja; Gruber, Stephen B.; Jenkins, Mark A.; Hsu, Li; Buchanan, Daniel D.; Peters, UlrikeGastroenterology. 2023.
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.The Journal of Molecular Diagnostics. 2023.
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.Clinical Epigenetics. 2023.
Oncomicrobial Community Profiling Identifies Clinicomolecular and Prognostic Subtypes of Colorectal Cancer. Mouradov, Dmitri; Greenfield, Paul; Li, Shan; In, Eun-Jung; Storey, Claire; Sakthianandeswaren, Anuratha; Georgeson, Peter; Buchanan, Daniel D.; Ward, Robyn L.; Hawkins, Nicholas J.; Skinner, Iain; Jones, Ian T.; Gibbs, Peter; Ma, Chenkai; Liew, Yi Jin; Fung, Kim Y.C.; Sieber, Oliver M.Gastroenterology. 2023.
Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival. Georgeson, Peter; Steinfelder, Robert S.; Harrison, Tabitha A.; Pope, Bernard J.; Zaidi, Syed H.; Qu, Conghui; Lin, Yi; Joo, Jihoon E.; Mahmood, Khalid; Clendenning, Mark; Walker, Romy; Aglago, Elom K; Berndt, Sonja I.; Brenner, Hermann; Campbell, Peter T.; Cao, Yin; Chan, Andrew T.; Chang-Claude, Jenny; Dimou, Niki; Doheny, Kimberly F.; Drew, David A.; Figueiredo, Jane C.; French, Amy J.; Gallinger, Steven; Giannakis, Marios; Giles, Graham G.; Goode, Ellen L; Gruber, Stephen B; Gsur, Andrea; Gunter, Marc J.; Harlid, Sophia; Hoffmeister, Michael; Hsu, Li; Huang, Wen-Yi; Huyghe, Jeroen R; Manson, JoAnn E.; Moreno, Victor; Murphy, Neil; Nassir, Rami; Newton, Christina C.; Nowak, Jonathan A.; Obón-Santacana, Mireia; Ogino, Shuji; Pai, Rish K.; Papadimitrou, Nikos; Potter, John D.; Schoen, Robert E.; Song, Mingyang; Sun, Wei; Toland, Amanda E.; Trinh, Quang M.; Tsilidis, Kostas; Ugai, Tomotaka; Um, Caroline Y; Macrae, Finlay A.; Rosty, Christophe; Hudson, Thomas J.; Winship, Ingrid M.; Phipps, Amanda I.; Jenkins, Mark A.; Peters, Ulrike; Buchanan, Daniel D.. 2023.
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures. Georgeson, Peter; Harrison, Tabitha A.; Pope, Bernard J.; Zaidi, Syed H.; Qu, Conghui; Steinfelder, Robert S.; Lin, Yi; Joo, Jihoon E.; Mahmood, Khalid; Clendenning, Mark; Walker, Romy; Amitay, Efrat L.; Berndt, Sonja I.; Brenner, Hermann; Campbell, Peter T.; Cao, Yin; Chan, Andrew T.; Chang-Claude, Jenny; Doheny, Kimberly F.; Drew, David A.; Figueiredo, Jane C.; French, Amy J.; Gallinger, Steven; Giannakis, Marios; Giles, Graham G.; Gsur, Andrea; Gunter, Marc J.; Hoffmeister, Michael; Hsu, Li; Huang, Wen-Yi; Limburg, Paul; Manson, JoAnn E.; Moreno, Victor; Nassir, Rami; Nowak, Jonathan A.; Obón-Santacana, Mireia; Ogino, Shuji; Phipps, Amanda I.; Potter, John D.; Schoen, Robert E.; Sun, Wei; Toland, Amanda E.; Trinh, Quang M.; Ugai, Tomotaka; Macrae, Finlay A.; Rosty, Christophe; Hudson, Thomas J.; Jenkins, Mark A.; Thibodeau, Stephen N.; Winship, Ingrid M.; Peters, Ulrike; Buchanan, Daniel D.Nature Communications. 2022.
Long-read assembly and comparative evidence-based reanalysis of Cryptosporidium genome sequences reveal expanded transporter repertoire and duplication of entire chromosome ends including subtelomeric regions. Baptista, Rodrigo P.; Li, Yiran; Sateriale, Adam; Sanders, Mandy J.; Brooks, Karen L.; Tracey, Alan; Ansell, Brendan R.E.; Jex, Aaron R.; Cooper, Garrett W.; Smith, Ethan D.; Xiao, Rui; Dumaine, Jennifer E.; Georgeson, Peter; Pope, Bernard J.; Berriman, Matthew; Striepen, Boris; Cotton, James A.; Kissinger, Jessica C.Genome Research. 2021.
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. 2021.
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 DGut. 2021.
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.The Journal of Molecular Diagnostics. 2021.
MSH2-deficient prostate tumours have a distinct immune response and clinical outcome compared to MSH2-deficient colorectal or endometrial cancer. McCoy, Patrick; Mangiola, Stefano; Macintyre, Geoff; Hutchinson, Ryan; Tran, Ben; Pope, Bernard; Georgeson, Peter; Hong, Matthew K. H.; Kurganovs, Natalie; Lunke, Sebastian; Clarkson, Michael J.; Cmero, Marek; Kerger, Michael; Stuchbery, Ryan; Chow, Ken; Haviv, Izhak; Ryan, Andrew; Costello, Anthony J.; Corcoran, Niall M.; Hovens, Christopher M.Prostate Cancer and Prostatic Diseases. 2021.
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.Familial Cancer. 2021.
Germline and Tumor Whole Genome 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.. 2020.
Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival. Zaidi, Syed H.; Harrison, Tabitha A.; Phipps, Amanda I.; Steinfelder, Robert; Trinh, Quang M.; Qu, Conghui; Banbury, Barbara L.; Georgeson, Peter; Grasso, Catherine S.; Giannakis, Marios; Adams, Jeremy B.; Alwers, Elizabeth; Amitay, Efrat L.; Barfield, Richard T.; Berndt, Sonja I.; Borozan, Ivan; Brenner, Hermann; Brezina, Stefanie; Buchanan, Daniel D.; Cao, Yin; Chan, Andrew T.; Chang-Claude, Jenny; Connolly, Charles M.; Drew, David A.; Farris, Alton Brad; Figueiredo, Jane C.; French, Amy J.; Fuchs, Charles S.; Garraway, Levi A.; Gruber, Steve; Guinter, Mark A.; Hamilton, Stanley R.; Harlid, Sophia; Heisler, Lawrence E.; Hidaka, Akihisa; Hopper, John L.; Huang, Wen-Yi; Huyghe, Jeroen R.; Jenkins, Mark A.; Krzyzanowski, Paul M.; Lemire, Mathieu; Lin, Yi; Luo, Xuemei; Mardis, Elaine R.; McPherson, John D.; Miller, Jessica K.; Moreno, Victor; Mu, Xinmeng Jasmine; Nishihara, Reiko; Papadopoulos, Nickolas; Pasternack, Danielle; Quist, Michael J.; Rafikova, Adilya; Reid, Emma E. G.; Shinbrot, Eve; Shirts, Brian H.; Stein, Lincoln D.; Teney, Cherie D.; Timms, Lee; Um, Caroline Y.; Van Guelpen, Bethany; Van Tassel, Megan; Wang, Xiaolong; Wheeler, David A.; Yung, Christina K.; Hsu, Li; Ogino, Shuji; Gsur, Andrea; Newcomb, Polly A.; Gallinger, Steven; Hoffmeister, Michael; Campbell, Peter T.; Thibodeau, Stephen N.; Sun, Wei; Hudson, Thomas J.; Peters, UlrikeNature Communications. 2020.
Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer. Elsayed, Fadwa A.; Grolleman, Judith E.; Ragunathan, Abiramy; Boot, Arnoud; Stojovska, Marija Staninova; Mahmood, Khalid; Clendenning, Mark; de Miranda, Noel; Dymerska, Dagmara; Egmond, Demi van; Gallinger, Steven; Georgeson, Peter; Hoogerbrugge, Nicoline; Hopper, John L.; Jansen, Erik A.M.; Jenkins, Mark A.; Joo, Jihoon E.; Kuiper, Roland P.; Ligtenberg, Marjolijn J.L.; Lubinski, Jan; Macrae, Finlay A.; Morreau, Hans; Newcomb, Polly; Nielsen, Maartje; Palles, Claire; Park, Daniel J.; Pope, Bernard J.; Rosty, Christophe; Ruiz Ponte, Clara; Schackert, Hans K.; Sijmons, Rolf H.; Tomlinson, Ian P.; Tops, Carli M.J.; Vreede, Lilian; Walker, Romy; Win, Aung K.; Buchanan, Daniel D.; van Wezel, Tom; de Voer, Richarda M.Gastroenterology. 2020.
Bionitio: demonstrating and facilitating best practices for bioinformatics command-line software. Georgeson, Peter; Syme, Anna; Sloggett, Clare; Chung, Jessica; Dashnow, Harriet; Milton, Michael; Lonsdale, Andrew; Powell, David; Seemann, Torsten; Pope, BernardGigaScience. 2019.
Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome. Georgeson, Peter; Walsh, Michael D.; Clendenning, Mark; Daneshvar, Simin; Pope, Bernard J.; Mahmood, Khalid; Joo, Jihoon E.; Jayasekara, Harindra; Jenkins, Mark A.; Winship, Ingrid M.; Buchanan, Daniel D.Molecular Genetics & Genomic Medicine. 2019.
Annotation of the Giardia proteome through structure-based homology and machine learning. Ansell, Brendan R E; Pope, Bernard J; Georgeson, Peter; Emery-Corbin, Samantha J; Jex, Aaron RGigaScience. 2018.
sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data. Jung, Chol-Hee; Park, Daniel J.; Georgeson, Peter; Mahmood, Khalid; Milne, Roger L.; Southey, Melissa C.; Pope, Bernard J.International Journal of Molecular Sciences. 2018.
Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics. Mahmood, Khalid; Jung, Chol-hee; Philip, Gayle; Georgeson, Peter; Chung, Jessica; Pope, Bernard J.; Park, Daniel J.Human Genomics. 2017.
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. Tan, Tiong Yang; Dillon, Oliver James; Stark, Zornitza; Schofield, Deborah; Alam, Khurshid; Shrestha, Rupendra; Chong, Belinda; Phelan, Dean; Brett, Gemma R.; Creed, Emma; Jarmolowicz, Anna; Yap, Patrick; Walsh, Maie; Downie, Lilian; Amor, David J.; Savarirayan, Ravi; McGillivray, George; Yeung, Alison; Peters, Heidi; Robertson, Susan J.; Robinson, Aaron J.; Macciocca, Ivan; Sadedin, Simon; Bell, Katrina; Oshlack, Alicia; Georgeson, Peter; Thorne, Natalie; Gaff, Clara; White, Susan M.JAMA Pediatrics. 2017.
An Emerging Female Phenotype with Loss‐of‐Function Mutations in the Aristaless‐ Related Homeodomain Transcription Factor ARX. Mattiske, Tessa; Moey, Ching; Vissers, Lisenka E.; Thorne, Natalie; Georgeson, Peter; Bakshi, Madhura; Shoubridge, CherylHuman Mutation. 2017.
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy. Walsh, Maie; Bell, Katrina M.; Chong, Belinda; Creed, Emma; Brett, Gemma R.; Pope, Kate; Thorne, Natalie P.; Sadedin, Simon; Georgeson, Peter; Phelan, Dean G.; Day, Timothy; Taylor, Jessica A.; Sexton, Adrienne; Lockhart, Paul J.; Kiers, Lynette; Fahey, Michael; Macciocca, Ivan; Gaff, Clara L.; Oshlack, Alicia; Yiu, Eppie M.; James, Paul A.; Stark, Zornitza; Ryan, Monique M.Annals of Clinical and Translational Neurology. 2017.
Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells. Pope, Bernard J.; Mahmood, Khalid; Jung, Chol-hee; Georgeson, Peter; Park, Daniel J.Genomics Data. 2017.
UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing. Park, Daniel J.; Li, Roger; Lau, Edmund; Georgeson, Peter; Nguyen-Dumont, Tú; Pope, Bernard J.BMC Bioinformatics. 2016.
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Stark, Zornitza; Tan, Tiong Y.; Chong, Belinda; Brett, Gemma R.; Yap, Patrick; Walsh, Maie; Yeung, Alison; Peters, Heidi; Mordaunt, Dylan; Cowie, Shannon; Amor, David J.; Savarirayan, Ravi; McGillivray, George; Downie, Lilian; Ekert, Paul G.; Theda, Christiane; James, Paul A.; Yaplito-Lee, Joy; Ryan, Monique M.; Leventer, Richard J.; Creed, Emma; Macciocca, Ivan; Bell, Katrina M.; Oshlack, Alicia; Sadedin, Simon; Georgeson, Peter; Anderson, Charlotte; Thorne, Natalie; Gaff, Clara; White, Susan M.Genetics in Medicine. 2016.
Presentations
- Mutational signature profiling of multiple colorectal polyps from unexplained polyposis cases identifies novel aetiologies
International Society for Gastrointestinal Hereditary Tumours (Singapore) (March, 2026). Poster presentation. - Novel insights from the investigation of experimental mutational signatures in early-onset colorectal cancer and colonic polyps
AACR Special Conference in Cancer Research: The Rise in Early Onset Cancers – Knowledge Gaps and Research Opportunities (Montreal, Canada) (December, 2025). Poster presentation. - Characterizing the clinicopathological, genomic and spatial transcriptomic features of colibactin-induced colorectal cancers
AACR Special Conference in Cancer Research: The Rise in Early Onset Cancers – Knowledge Gaps and Research Opportunities (Montreal, Canada) (December, 2025). Poster presentation. - Somatic Mutational Signatures in Premalignant Colorectal Polyps Reveal Inherited Syndromes and Unexplained Aetiologies
Familial Aspects of Cancer Research and Practice (Kingscliff, Australia) (August, 2025). Accepted oral presentation. - Tumour mutational signatures for diagnosis and variant classification of hereditary colorectal cancer syndromes
Royal Melbourne Hospital Medical Grand Rounds (Melbourne, Australia) (April, 2025). Invited speaker. - Using tumour mutational signatures for diagnosing and variant classification of hereditary colorectal cancer syndromes
Colon Cancer Family Registry Cohort - Scientific Symposium (Hawaii, USA) (October, 2024). Invited speaker. - Improving hereditary colorectal cancer classification through mutational signature profiling
Human Genetics Society of Australasia (September, 2024). Invited speaker. - Improving hereditary CRC gene variant classification through tumour profiling
Familial Aspects of Cancer Research and Practice (Kingscliff, Australia) (August, 2024). Invited speaker. - Evidence of the accuracy of the KRAS c.34G>T p.G12C somatic mutation as a biomarker of germline biallelic MUTYH pathogenic variant carrier status
Familial Aspects of Cancer Research and Practice (Kingscliff, Australia) (August, 2024). Accepted oral presentation. - The exome-wide genomic profile of Lynch syndrome-related colorectal cancers differs by affected gene: implications for determining pathways of tumourigenesis
International Society for Gastrointestinal Hereditary Tumours (Barcelona, Spain) (June, 2024). Accepted oral presentation. - Genomic profiling of non-cancerous bowel tumours to improve prediction of progression to bowel cancer
Cure Cancer Lunch and Learn Series (2024). Public Seminar. - Genomic profiling of non-cancerous bowel tumours to improve prediction of progression to bowel cancer
Cure Cancer Research Symposium (2024). Invited oral presentation. - Genomic profiling of colorectal adenomas to identify inherited colorectal cancer and polyposis syndrome carriers
Familial Aspects of Cancer Research and Practice (Kingscliff, Australia) (2023). Accepted oral presentation. - Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures
International Society for Gastrointestinal Hereditary Tumours (New Jersey, USA) (2022). Accepted oral presentation. - The utility of base-excision repair tumor mutational signatures for identifying biallelic MUTYH carriers and classifying germline variants of uncertain clinical significance using colorectal cancer panel-sequenced genomic data
European Hereditary Tumour Group (EHTG) (2021). Accepted oral presentation. - Evaluating the clinical applicability of tumour mutational signatures in colorectal cancer
University of Melbourne Cancer Center Research (UMCCR) (2021). Seminar. - The utility of base-excision repair tumor mutational signatures for identifying biallelic MUTYH carriers and classifying germline variants of uncertain clinical significance using colorectal cancer panel-sequenced genomic data
Familial Aspects of Cancer Research and Practice (Kingscliff, Australia) (2021). Accepted oral presentation. - Identifying MUTYH-associated polyposis using panel-sequenced genomic data
The Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) Tumour Working Group (2020). Oral presentation. - Evaluating tumour mutational signatures for classification of mismatch repair deficiency and identification of Lynch Syndrome and MLH1 methylated subtypes
International Society for Gastrointestinal Hereditary Tumours (Auckland, New Zealand) (2019). Accepted oral presentation. - The Clinical Utility of Tumour Mutational Signatures for Identifying Hereditary Colorectal Cancer and Polyposis syndromes
Familial Aspects of Cancer Research and Practice (Kingscliff, Australia) (2019). Accepted oral presentation. - Evaluating the clinical applicability of somatic mutational signatures
University of Melbourne Cancer Center Research (UMCCR) (2018). Seminar. - Identifying and characterising high resolution mutational signatures from DNA mismatch repair deficient tumours
Australian Bioinformatics and Computational Biology Society (Melbourne, Australia) (2018). Accepted oral presentation.
Funding
- Cancer Council Grants-in-aid (2025-2027) - $359,850
Preventing bowel cancer caused by gut bacteria - NHMRC Investigator Grant (2024-2028) - $662,040
Clinical application of tumour mutational signatures for precision prevention of colorectal cancer - Cure Cancer Research Grant (2024) - $100,000
Genomic profiling of non-cancerous bowel tumours to improve prediction of progression to bowel cancer - The University of Melbourne - Travel Funding (2024) - $4,646
Early Career Academic Conference Support Scheme - Cancer Council Victoria Research Grant (2023) - $81,030
Linking gut bacteria to the development of colorectal cancer using multi-omic profiling
Supervision
- Elizabeth (Yen Lin) Chu (2023 onwards)
PhD student, The University of Melbourne. co-supervised with A/Prof Dan Buchanan and Dr Eric Joo - Daniel Vo (2023)
Medical student, The University of Melbourne. Co-supervised with A/Prof Dan Buchanan
Teaching
- Guest Lecturer (Semester 1, 2019):
Diagnostic Genomics at Melbourne Dental School, The University of Melbourne - Tutor (Semester 1, 2019):
Master of Business Analytics at The University of Melbourne (54 students) - Instructor (October, 2018; June, 2018; March, 2018; September, 2017):
Introduction to Unix at Melbourne Bioinformatics (68 students) - Instructor (June, 2018; March, 2018):
Introduction to High Performance Computing at Melbourne Bioinformatics (21 students) - Subject Co-ordinator (Semester 2, 2017):
Algorithms for Functional Genomics at The University of Melbourne (44 students) - Guest lecturer (Semester 1, 2017):
Master of Business Analytics at The University of Melbourne (45 students)
Projects
dovex
An online tool facilitating online data visualization and exploration
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Misc
Take Two!
Take a break from research and try out this fun and fast Scrabble-related word game.
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