Cancer Genetics & Genomics Program

Cancer is fundamentally a polygenic disorder, imparted by germline and somatic mutations.

With advances in DNA sequencing and other genomic technologies, it is feasible to obtain high-dimensional genomic information about an individual patient’s tumours and relate this to clinical outcome. The Cancer Genetics & Genomics Program applies genomic technologies to large patient cohorts, with a particular focus on breast, ovarian and prostate cancer. Familial (kConFab, ViP) and population-based (Lifepool) breast and ovarian (Australian Ovarian Cancer Study) cancer cohorts are embedded in the program. They greatly enhance the research program due to the large number of patient samples with rich clinical information and associated biospecimens. More recently the program has established CASCADE, a unique rapid autopsy study that provides an enabling platform for a variety of solid and haematological malignancies. Sophisticated genomic, functional genetic and bioinformatic capabilities also highly enable the program.

Program head

Prof David Bowtell
Prof Ian Campbell

Research labs

Key collaborative papers

Alsop K, Thorne H, Sandhu S, Hamilton A, Mintoff C, Christie E, Spruyt O, Williams S, McNally O, Mileshkin L, Ananda S, Hallo J, Loi S, Scott C, Savas P, Devereux L, O'Brien P, Gunawardena S, Hampson C, Strachan K, Jaravaza RD, Francis V, Young G, Ranson D, Samaranayake R, Stevens D, Boyle S, Fedele C, Topp M, Ho G, Teo ZL, Taylor RA, Papargiris MM, Lawrence MG, Wang H, Risbridger GP, Haynes NM, Medon M, Johnstone RW, Vidacs E, Arnau GM, Vergara IA, Papenfuss AT, McArthur G, Waring P, Carvosso S, Angel C, Gyorki D, Solomon B, Mitchell G, Shanley S, Francis PA, Dawson SJ, Haffenden A, Tidball E, Volchek M, Pyman J, Madadin M, Leditschke J, Cordner S, Melbourne Melanoma Project, Australian Ovarian Cancer Study Group (AOCS), Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Shackleton M, Bowtell DD (2016). A community-based model of rapid autopsy in end-stage cancer patients. Nat Biotechnol. 34(10):1010-14.

Hunter SM, Anglesio MS, Ryland GL, Sharma R, Chiew YE, Rowley SM, Doyle MA, Li J, Gilks CB, Moss P, Allan PE, Stephens AN, Huntsman DG, deFazio A, Bowtell DD, Australian Ovarian Cancer Study Group, Gorringe KL, Campbell IG (2015). Molecular profiling of low grade serous ovarian tumours identifies novel candidate driver genesOncotarget. 6(35):37663-77.

Patch AM, Christie EL, Etemadmoghadam D, Garsed DW, George J, Fereday S, Nones K, Cowin P, Alsop K, Bailey PJ, Kassahn KS, Newell F, Quinn MC, Kazakoff S, Quek K, Wilhelm-Benartzi C, Curry E, Leong HS, Australian Ovarian Cancer Study Group, Hamilton A, Mileshkin L, Au-Yeung G, Kennedy C, Hung J, Chiew YE, Harnett P, Friedlander M, Quinn M, Pyman J, Cordner S, O'Brien P, Leditschke J, Young G, Strachan K, Waring P, Azar W, Mitchell C, Traficante N, Hendley J, Thorne H, Shackleton M, Miller DK, Arnau GM, Tothill RW, Holloway TP, Semple T, Harliwong I, Nourse C, Nourbakhsh E, Manning S, Idrisoglu S, Bruxner TJ, Christ AN, Poudel B, Holmes O, Anderson M, Leonard C, Lonie A, Hall N, Wood S, Taylor DF, Xu Q, Fink JL, Waddell N, Drapkin R, Stronach E, Gabra H, Brown R, Jewell A, Nagaraj SH, Markham E, Wilson PJ, Ellul J, McNally O, Doyle MA, Vedururu R, Stewart C, Lengyel E, Pearson JV, Waddell N, deFazio A, Grimmond SM, Bowtell DD (2015). Whole-genome characterization of chemoresistant ovarian cancerNature. 521(7553):489-94.