Garvan Institute of Medical Research

Rare germline variants in childhood cancer patients suspected of genetic predisposition to cancer

Sylvester, D. E.; Chen, Y.; Grima, N.; Saletta, F.; Padhye, B.; Bennetts, B.; Wright, D.; Krivanek, M.; Graf, N.; Zhou, L.; Catchpoole, D.; Kirk, J.; Latchoumanin, O.; Qiao, L.; Ballinger, M.; Thomas, D.; Jamieson, R.; Dalla-Pozza, L.; Byrne, J. A.

Genes Chromosomes Cancer 61 (2) :81-93, 2022 10.1002/gcc.23006

Fear of cancer recurrence in patients undergoing germline genome sequencing

Bartley, N.; Davies, G.; Butow, P.; Napier, C. E.; Schlub, T.; Ballinger, M. L.; Thomas, D. M.; Juraskova, I.; Meiser, B.; Best, M. C.

SUPPORTIVE CARE IN CANCER 2021 10.1007/s00520-021-06311-9

Novel RET Fusion RET-SEPTIN9 Predicts Response to Selective RET Inhibition With Selpercatinib in Malignant Pheochromocytoma

Mweempwa, A.; Xu, H.; Vissers, J. H. A.; Tothill, R. W.; Pattison, A. D.; Fellowes, A. P.; Thomas, D. M.; Richardson, G.; Hicks, R. J.; Grimmond, S. M.; Fox, S. B.; Luen, S. J.; Desai, J.; Solomon, B. J.

JCO Precision Oncology 5 :1160-1165, 2021 10.1200/PO.21.00127

Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer

Singhal, D.; Hahn, C. N.; Feurstein, S.; Wee, L. Y. A.; Moma, L.; Kutyna, M. M.; Chhetri, R.; Eshraghi, L.; Schreiber, A. W.; Feng, J.; Wang, P. P.; Babic, M.; Parker, W. T.; Gao, S.; Moore, S.; Das, S.; Thomas, D.; Pattnaik, S.; Brown, A. L.; D'Andrea, R. J.; Poplawski, N. K.; Thomas, D.; Scott, H. S.; Godley, L. A.; Hiwase, D. K.

LEUKEMIA 2021 10.1038/s41375-021-01246-w

Longitudinal patterns in fear of cancer progression in patients with rare, advanced cancers undergoing comprehensive tumour genomic profiling

Butow, P.; Muller, F.; Napier, C. E.; Bartley, N.; Ballinger, M. L.; Biesecker, B.; Juraskova, I.; Meiser, B.; Schlub, T. E.; Thomas, D. M.; Goldstein, D.; Best, M. C.; Members of the PiGeOn, Project

PSYCHO-ONCOLOGY 2021 10.1002/pon.5764

Germline PALB2 Variants and PARP Inhibitors in Endometrial Cancer

Cilento, M. A.; Poplawski, N. K.; Paramasivam, S.; Thomas, D. M.; Kichenadasse, G.

Journal of the National Comprehensive Cancer Network 19 (11) :1212-1217, 2021 10.6004/jnccn.2021.7067

The experiences and needs of Australian medical oncologists in integrating comprehensive genomic profiling into clinical care: a nation-wide survey

Thavaneswaran, S.; Ballinger, M.; Butow, P.; Meiser, B.; Goldstein, D.; Lin, F.; Napier, C.; Thomas, D.; Best, M.

Oncotarget 12 (21) :2169-2176, 2021 10.18632/oncotarget.28076

Ultra-rare sarcomas: A consensus paper from the Connective Tissue Oncology Society community of experts on the incidence threshold and the list of entities

Stacchiotti, S.; Frezza, A. M.; Blay, J. Y.; Baldini, E. H.; Bonvalot, S.; Bovee, Jvmg; Callegaro, D.; Casali, P. G.; Chiang, R. C.; Demetri, G. D.; Demicco, E. G.; Desai, J.; Eriksson, M.; Gelderblom, H.; George, S.; Gounder, M. M.; Gronchi, A.; Gupta, A.; Haas, R. L.; Hayes-Jardon, A.; Hohenberger, P.; Jones, K. B.; Jones, R. L.; Kasper, B.; Kawai, A.; Kirsch, D. G.; Kleinerman, E. S.; Le Cesne, A.; Lim, J.; Chirlaque Lopez, M. D.; Maestro, R.; Marcos-Gragera, R.; Martin Broto, J.; Matsuda, T.; Mir, O.; Patel, S. R.; Raut, C. P.; Razak, A. R. A.; Reed, D. R.; Rutkowski, P.; Sanfilippo, R. G.; Sbaraglia, M.; Schaefer, I. M.; Strauss, D. C.; Sundby Hall, K.; Tap, W. D.; Thomas, D. M.; van der Graaf, W. T. A.; van Houdt, W. J.; Visser, O.; von Mehren, M.; Wagner, A. J.; Wilky, B. A.; Won, Y. J.; Fletcher, C. D. M.; Dei Tos, A. P.; Trama, A.

CANCER 127 (16) :2934-2942, 2021 10.1002/cncr.33618

Criteria-based curation of a therapy-focused compendium to support treatment recommendations in precision oncology

Lin, F. P.; Thavaneswaran, S.; Grady, J. P.; Ballinger, M.; Kansara, M.; Oakes, S. R.; Desai, J.; Lee, C. K.; Simes, J.; Thomas, D. M.

NPJ Precision Oncology 5 (1) :58, 2021 10.1038/s41698-021-00194-z

Influence of lived experience on risk perception among women who received a breast cancer polygenic risk score: 'Another piece of the pie'

Willis, A. M.; Smith, S. K.; Meiser, B.; James, P. A.; Ballinger, M. L.; Thomas, D. M.; Yanes, T.; Young, M. A.

Journal of Genetic Counseling 30 (3) :849-860, 2021 10.1002/jgc4.1384

Family communication about genomic sequencing: A qualitative study with cancer patients and relatives

Smit, A. K.; Bartley, N.; Best, M. C.; Napier, C. E.; Butow, P.; Newson, A. J.; Tucker, K.; Ballinger, M. L.; Thomas, D. M.; Jacobs, C.; Meiser, B.; Goldstein, D.; Savard, J.; Juraskova, I.; PiGeOn authorship, group

PATIENT EDUCATION AND COUNSELING 104 (5) :944-952, 2021 10.1016/j.pec.2020.10.022

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

Gong, B.; Li, D.; Kusko, R.; Novoradovskaya, N.; Zhang, Y.; Wang, S.; Pabon-Pena, C.; Zhang, Z.; Lai, K.; Cai, W.; LoCoco, J. S.; Lader, E.; Richmond, T. A.; Mittal, V. K.; Liu, L. C.; Johann, D. J., Jr.; Willey, J. C.; Bushel, P. R.; Yu, Y.; Xu, C.; Chen, G.; Burgess, D.; Cawley, S.; Giorda, K.; Haseley, N.; Qiu, F.; Wilkins, K.; Arib, H.; Attwooll, C.; Babson, K.; Bao, L.; Bao, W.; Lucas, A. B.; Best, H.; Bhandari, A.; Bisgin, H.; Blackburn, J.; Blomquist, T. M.; Boardman, L.; Burgher, B.; Butler, D. J.; Chang, C. J.; Chaubey, A.; Chen, T.; Chierici, M.; Chin, C. R.; Close, D.; Conroy, J.; Coleman, J. C.; Craig, D. J.; Crawford, E.; Del Pozo, A.; Deveson, I. W.; Duncan, D.; Eterovic, A. K.; Fan, X.; Foox, J.; Furlanello, C.; Ghosal, A.; Glenn, S.; Guan, M.; Haag, C.; Hang, X.; Happe, S.; Hennigan, B.; Hipp, J.; Hong, H.; Horvath, K.; Hu, J.; Hung, L. Y.; Jarosz, M.; Kerkhof, J.; Kipp, B.; Kreil, D. P.; Labaj, P.; Lapunzina, P.; Li, P.; Li, Q. Z.; Li, W.; Li, Z.; Liang, Y.; Liu, S.; Liu, Z.; Ma, C.; Marella, N.; Martin-Arenas, R.; Megherbi, D. B.; Meng, Q.; Mieczkowski, P. A.; Morrison, T.; Muzny, D.; Ning, B.; Parsons, B. L.; Paweletz, C. P.; Pirooznia, M.; Qu, W.; Raymond, A.; Rindler, P.; Ringler, R.; Sadikovic, B.; Scherer, A.; Schulze, E.; Sebra, R.; Shaknovich, R.; Shi, Q.; Shi, T.; Silla-Castro, J. C.; Smith, M.; Lopez, M. S.; Song, P.; Stetson, D.; Strahl, M.; Stuart, A.; Supplee, J.; Szankasi, P.; Tan, H.; Tang, L. Y.; Tao, Y.; Thakkar, S.; Thierry-Mieg, D.; Thierry-Mieg, J.; Thodima, V. J.; Thomas, D.; Tichy, B.; Tom, N.; Garcia, E. V.; Verma, S.; Walker, K.; Wang, C.; Wang, J.; Wang, Y.; Wen, Z.; Wirta, V.; Wu, L.; Xiao, C.; Xiao, W.; Xu, S.; Yang, M.; Ying, J.; Yip, S. H.; Zhang, G.; Zhang, S.; Zhao, M.; Zheng, Y.; Zhou, X.; Mason, C. E.; Mercer, T.; Tong, W.; Shi, L.; Jones, W.; Xu, J.

GENOME BIOLOGY 22 (1) :109, 2021 10.1186/s13059-021-02315-0

PD-1 blockade using pembrolizumab in adolescent and young adult patients with advanced bone and soft tissue sarcoma

Scheinberg, T.; Lomax, A.; Tattersall, M.; Thomas, D.; McCowage, G.; Sullivan, M.; Karim, R.; Luk, P. P.; Mahar, A.; Bonar, F.; Bhadri, V. A.

Cancer Reports 13 :e1327, 2021 10.1002/cnr2.1327

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

Minoche, A. E.; Lundie, B.; Peters, G. B.; Ohnesorg, T.; Pinese, M.; Thomas, D. M.; Zankl, A.; Roscioli, T.; Schonrock, N.; Kummerfeld, S.; Burnett, L.; Dinger, M. E.; Cowley, M. J.

Genome Medicine 13 (1) :32, 2021 10.1186/s13073-021-00841-x

Germline RET variants underlie a subset of paediatric osteosarcoma

Kovac, M.; Woolley, C.; Ribi, S.; Blattmann, C.; Roth, E.; Morini, M.; Kovacova, M.; Ameline, B.; Kulozik, A.; Bielack, S.; Hartmann, W.; Ballinger, M. L.; Thomas, D. M.; Tomlinson, I.; Nathrath, M.; Heinimann, K.; Baumhoer, D.

JOURNAL OF MEDICAL GENETICS 58 (1) :20-24, 2021 10.1136/jmedgenet-2019-106734

Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer

Wong, M.; Mayoh, C.; Lau, L. M. S.; Khuong-Quang, D. A.; Pinese, M.; Kumar, A.; Barahona, P.; Wilkie, E. E.; Sullivan, P.; Bowen-James, R.; Syed, M.; Martincorena, I.; Abascal, F.; Sherstyuk, A.; Bolanos, N. A.; Baber, J.; Priestley, P.; Dolman, M. E. M.; Fleuren, E. D. G.; Gauthier, M. E.; Mould, E. V. A.; Gayevskiy, V.; Gifford, A. J.; Grebert-Wade, D.; Strong, P. A.; Manouvrier, E.; Warby, M.; Thomas, D. M.; Kirk, J.; Tucker, K.; O'Brien, T.; Alvaro, F.; McCowage, G. B.; Dalla-Pozza, L.; Gottardo, N. G.; Tapp, H.; Wood, P.; Khaw, S. L.; Hansford, J. R.; Moore, A. S.; Norris, M. D.; Trahair, T. N.; Lock, R. B.; Tyrrell, V.; Haber, M.; Marshall, G. M.; Ziegler, D. S.; Ekert, P. G.; Cowley, M. J.

NATURE MEDICINE 26 (11) :1742-1753, 2020 10.1038/s41591-020-1072-4