Germline TERT promoter mutations are rare in familial melanoma

Autor: Harland, M., Petljak, M., Robles-Espinoza, C.D., Ding, Z.H., Gruis, N.A., Doorn, R. van, Pooley, K.A., Dunning, A.M., Aoude, L.G., Wadt, K.A.W., Gerdes, A.M., Brown, K.M., Hayward, N.K., Newton-Bishop, J.A., Adams, D.J., Bishop, D.T.

Publikováno v: Familial Cancer, 15(1), 139-144

Germline CDKN2A mutations occur in 40 % of 3-or-more case melanoma families while mutations of CDK4, BAP1, and genes involved in telomere function (ACD, TERF2IP, POT1), have also been implicated in melanomagenesis. Mutation of the promoter of the tel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ac654d3c11c7e6702954e00d49392802
https://eprints.whiterose.ac.uk/90120/3/art%3A10.1007%2Fs10689-015-9841-9.pdf

Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy.

Autor: Brosda S; Frazer Institute, The University of Queensland, 37 Kent Street, Woolloongabba, QLD, 4102, Australia. s.brosda@uq.edu.au., Aoude LG; Frazer Institute, The University of Queensland, 37 Kent Street, Woolloongabba, QLD, 4102, Australia., Bonazzi VF; Frazer Institute, The University of Queensland, 37 Kent Street, Woolloongabba, QLD, 4102, Australia., Patel K; Frazer Institute, The University of Queensland, 37 Kent Street, Woolloongabba, QLD, 4102, Australia., Lonie JM; Frazer Institute, The University of Queensland, 37 Kent Street, Woolloongabba, QLD, 4102, Australia., Belle CJ; Frazer Institute, The University of Queensland, 37 Kent Street, Woolloongabba, QLD, 4102, Australia., Newell F; QIMR Berghofer Medical Research Institute, Herston, QLD, 4006, Australia., Koufariotis LT; QIMR Berghofer Medical Research Institute, Herston, QLD, 4006, Australia., Addala V; QIMR Berghofer Medical Research Institute, Herston, QLD, 4006, Australia., Naeini MM; QIMR Berghofer Medical Research Institute, Herston, QLD, 4006, Australia.; Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia.; Faculty of Medicine, St Vincent's Clinical School, University of New South Wales, Sydney, NSW, 2052, Australia., Pearson JV; QIMR Berghofer Medical Research Institute, Herston, QLD, 4006, Australia., Krause L; Frazer Institute, The University of Queensland, 37 Kent Street, Woolloongabba, QLD, 4102, Australia.; Microba Life Sciences, Brisbane, QLD, 4000, Australia., Waddell N; QIMR Berghofer Medical Research Institute, Herston, QLD, 4006, Australia., Barbour AP; Frazer Institute, The University of Queensland, 37 Kent Street, Woolloongabba, QLD, 4102, Australia.; Princess Alexandra Hospital, Woolloongabba, QLD, 4102, Australia.

Publikováno v: Genome medicine [Genome Med] 2024 Jul 17; Vol. 16 (1), pp. 90. Date of Electronic Publication: 2024 Jul 17.

The oesophageal adenocarcinoma tumour immune microenvironment dictates outcomes with different modalities of neoadjuvant therapy - results from the AGITG DOCTOR trial and the cancer evolution biobank.

Autor: Lonie JM; Surgical Oncology Group, Frazer Institute, The University of Queensland, Brisbane, QLD, Australia., Brosda S; Surgical Oncology Group, Frazer Institute, The University of Queensland, Brisbane, QLD, Australia., Bonazzi VF; Surgical Oncology Group, Frazer Institute, The University of Queensland, Brisbane, QLD, Australia., Aoude LG; Surgical Oncology Group, Frazer Institute, The University of Queensland, Brisbane, QLD, Australia., Patel K; Surgical Oncology Group, Frazer Institute, The University of Queensland, Brisbane, QLD, Australia., Brown I; Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.; Envoi Specialist Pathologists, Brisbane, QLD, Australia.; Department of Pathology, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia., Sharma S; Medlab Pathology, Sydney, NSW, Australia.; Medical Genomics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Lampe G; Department of Anatomical Pathology, Central Laboratory Pathology Queensland, Brisbane, QLD, Australia., Addala V; Medical Genomics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Koufariotis LT; Medical Genomics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Wood S; Medical Genomics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Waddell N; Medical Genomics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Dolcetti R; Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.; Translational and Clinical Immunotherapy, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia.; Department of Microbiology and Immunology, The University of Melbourne, Melbourne, VIC, Australia., Barbour AP; Surgical Oncology Group, Frazer Institute, The University of Queensland, Brisbane, QLD, Australia.; Department of Surgery, Princess Alexandra Hospital, Brisbane, QLD, Australia.

Publikováno v: Frontiers in immunology [Front Immunol] 2023 Oct 12; Vol. 14, pp. 1220129. Date of Electronic Publication: 2023 Oct 12 (Print Publication: 2023).

GOLM1 : expanding our understanding of melanoma susceptibility.

Autor: Maas EJ; Dermatology Research Centre, University of Queensland Frazer Institute, Brisbane, Queensland, Australia., Wallingford CK; Dermatology Research Centre, University of Queensland Frazer Institute, Brisbane, Queensland, Australia., DeBortoli E; Dermatology Research Centre, University of Queensland Frazer Institute, Brisbane, Queensland, Australia., Smit DJ; Dermatology Research Centre, University of Queensland Frazer Institute, Brisbane, Queensland, Australia., Betz-Stablein B; Dermatology Research Centre, University of Queensland Frazer Institute, Brisbane, Queensland, Australia., Aoude LG; Surgical Oncology Group, University of Queensland Frazer Institute, Brisbane, Queensland, Australia., Stark MS; Department of Dermatology, Princess Alexandra Hospital, Woolloongabba, Queensland, Australia., Sturm RA; Dermatology Research Centre, University of Queensland Frazer Institute, Brisbane, Queensland, Australia., Soyer HP; Dermatology Research Centre, University of Queensland Frazer Institute, Brisbane, Queensland, Australia.; Department of Dermatology, Princess Alexandra Hospital, Woolloongabba, Queensland, Australia., McInerney-Leo AM; Dermatology Research Centre, University of Queensland Frazer Institute, Brisbane, Queensland, Australia a.mcinerney@uq.edu.au.

Publikováno v: Journal of medical genetics [J Med Genet] 2023 Sep; Vol. 60 (9), pp. 835-837. Date of Electronic Publication: 2023 Jul 24.

Multi-omic features of oesophageal adenocarcinoma in patients treated with preoperative neoadjuvant therapy.

Autor: M Naeini M; QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia., Newell F; QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia., Aoude LG; Frazer Institute, The University of Queensland, Woolloongabba, QLD, 4102, Australia., Bonazzi VF; Frazer Institute, The University of Queensland, Woolloongabba, QLD, 4102, Australia., Patel K; Frazer Institute, The University of Queensland, Woolloongabba, QLD, 4102, Australia., Lampe G; Princess Alexandra Hospital, Woolloongabba, QLD, 4102, Australia., Koufariotis LT; QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia., Lakis V; QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia., Addala V; QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia., Kondrashova O; QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia., Johnston RL; QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia., Sharma S; QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, 4006, Australia.; Anatomical Pathology, Australian Clinical Labs, 2153, Sydney, Australia., Brosda S; Frazer Institute, The University of Queensland, Woolloongabba, QLD, 4102, Australia., Holmes O; QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia., Leonard C; QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia., Wood S; QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia., Xu Q; QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia., Thomas J; Princess Alexandra Hospital, Woolloongabba, QLD, 4102, Australia.; Mater Research Institute, Mater Misericordiae, South Brisbane, QLD, 4101, Australia., Walpole E; Princess Alexandra Hospital, Woolloongabba, QLD, 4102, Australia., Tao Mai G; Princess Alexandra Hospital, Woolloongabba, QLD, 4102, Australia., Ackland SP; Department of Medical Oncology, Calvary Mater Newcastle, Waratah, NSW, 2298, Australia., Martin J; Department of Radiation Oncology, Calvary Mater Newcastle, Waratah, NSW, 2298, Australia., Burge M; Royal Brisbane and Women's Hospital, Herston, QLD, 4029, Australia., Finch R; Royal Brisbane and Women's Hospital, Herston, QLD, 4029, Australia., Karapetis CS; Flinders University Department of Medical Oncology, Flinders Medical Centre, Adelaide, SA, 5042, Australia., Shannon J; Nepean Cancer Care Centre, Nepean Hospital, Sydney, NSW, 2747, Australia., Nott L; Department of Medical Oncology, Royal Hobart Hospital, Hobart, TAS, Australia., Bohmer R; Department of General Surgery, Royal Hobart Hospital, Hobart, TAS, Australia., Wilson K; NHMRC Clinical Trials Centre, University of Sydney, Sydney, NSW, 2006, Australia., Barnes E; NHMRC Clinical Trials Centre, University of Sydney, Sydney, NSW, 2006, Australia., Zalcberg JR; Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, VIC, 3004, Australia., Mark Smithers B; Princess Alexandra Hospital, Woolloongabba, QLD, 4102, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, 4006, Australia., Simes J; NHMRC Clinical Trials Centre, University of Sydney, Sydney, NSW, 2006, Australia., Price T; Medical Oncology Unit, The Queen Elizabeth Hospital and University of Adelaide, Adelaide, SA, 5011, Australia., Gebski V; NHMRC Clinical Trials Centre, University of Sydney, Sydney, NSW, 2006, Australia., Nones K; QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia., Watson DI; Flinders University Discipline of Surgery, Flinders Medical Centre, Adelaide, SA, 5042, Australia., Pearson JV; QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia., Barbour AP; Frazer Institute, The University of Queensland, Woolloongabba, QLD, 4102, Australia. a.barbour@uq.edu.au.; Princess Alexandra Hospital, Woolloongabba, QLD, 4102, Australia. a.barbour@uq.edu.au., Waddell N; QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia. nic.waddell@qimrberghofer.edu.au.

Publikováno v: Nature communications [Nat Commun] 2023 May 31; Vol. 14 (1), pp. 3155. Date of Electronic Publication: 2023 May 31.