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Home  Research  Cancer Genetics

Cancer Genetics

Georgia Chenevix-Trench Staff
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Lab Head: Dr Georgia Chenevix-Trench
Inherited predisposition to breast and ovarian cancer is caused in part by mutations in the BRCA1 and BRCA2 genes, but only about one third of families with a strong family history of breast cancer carry mutations in these genes. We are looking for other genes which might predispose to breast or ovarian cancer, using families from the Australasian consortium of familial breast cancer, kConFab (http://www.kconfab.org), to identify high-penetrance genes and case-control studies to identify low-penetrance genes. Furthermore, BRCA1/2 mutations show incomplete penetrance and variable expression. In collaboration with the international Consortium for Investigators of Modifiers of BRCA1/2 (CIMBA), we are studying BRCA1/2 mutation carriers in order to identify genes that modify the expression of BRCA1/2. .

Projects in the Laboratory

Low penetrance breast and ovarian cancer susceptibility genes, and modifier genes for BRCA1 and BRCA2
As members of the Breast Cancer Association Consortium (BCAC), the Consortium for Investigators of Modifiers of BRCA1/2 (CIMBA), and the Ovarian Cancer Association Consortium (OCAC). Using high-throughput genotyping of single nucleotide polymorphisms, mainly in candidate genes, we have been very successful recently in finding validated low-risk and modifying genes and are now moving towards genes identified through Genome Wide Association Studies.

Identification of new breast cancer predisposition genes
The laboratory is making use of an excellent resource that have been collected in Australia for the study of breast cancer genetics, namely the Kathleen Cuningham Foundation Consortium for Familial Breast Cancer (kConFaB - (http://www.kconfab.org)). kConFab is a cohort study of multiple case breast cancer families from whom extensive genetic, clinical and epidemiological data are available, as well as biological specimens. Collection is complete on more than 1100 families but mutations in BRCA1 and BRCA2 have only been identified in about 35% so a major focus of the laboratory is to look for additional breast cancer susceptibility genes. In particular, we are investigating the ATM gene, and other known and novel genes whose products interact with ATM and BRCA1/2,. In collaboration with Dr Kumkum Khanna (QIMR) we have identified highly penetrant, dominant negative ATM mutations in breast cancer families (Chenevix-Trench et al., 2002; Thompson et al., 2005) and further work is underway to determine the frequency and penetrance of ATM mutations in familial breast cancer.

An ATM knock-in mouse model
We have made a knock in mouse for the breast cancer-associated mutation in ATM, 7271T>G. The homozygotes display features consistent with a mild form of ataxia telangiectasia. We are currently monitoring cohorts of female heterozygotes and homozygotes for the development of mammary, and other, cancers.

Genomic characterization of familial breast tumours
We are currently characterizing a panel of BRCA1, BRCA2 and BRCAx tumours by mRNA and miR expression, copy number and methylation profiling. The main aims of this project are 1) to look for subypes of BRCAx tumours, and see whether they run in families, as a prelude to linkage analysis of homogeneous groups of BRCAx families and 2) to identify novel methylation targets. We predict that this work will provide novel biomarkers to test as early diagnostic markers for breast cancer.

Evaluation of the ABC breast cancer cluster
In collaboration with Drs Sunil Lakhani (UQ), Beth Newman (QUT) and Glenn Francis (PAH), we are starting to investigate the molecular features of the cluster of breast tumours that have arisen in women working at the Australian Broadcasting Corporation studio in Toowong, Brisbane.

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Staff

Labhead: Dr Georgia Chenevix-Trench
Research Officers: Jeremy Arnold
Jonathan Beesley
Nic Waddell
Sharon Johnatty
Project Manager: Sue Healey
Data Manager: Helene Holland
Research Assistants: Anna Marsh
Xiaoqing Chen
Graduate Students: Nicci Wayte
Julie Johnson

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Funding

National Health and Medical Research Council of Australia Program and Project Grants
National Breast Cancer Foundation
Department of Defense (USA)
Susan G Komen Foundation (USA)
National Institutes of Health (USA)
Cancer Research UK

Collaborators

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Key Publications

Mote, P., Leary, J., Avery, K., Sandelin, K., Chenevix-Trench, G., kConFaB, Kirk, J. and Clarke, C. Germline mutations in BRCA1 or BRCA2 in the normal breast are associated with altered expression of estrogen responsive proteins and predominance of progesterone receptor A. Genes, Chromosomes and Cancer 39: 236-248 (2004)

Flanagan, J., Healey, S., Young, J., Whitehall, V., Trott, D., Newbold, R. and Chenevix-Trench, G. Mapping of a candidate colorectal cancer tumour suppressor gene to a 900 kilobase region on the short arm of chromosome 8. Genes, Chromosomes and Cancer 40: 247-260 (2004)

The CHEK2 Breast Cancer Consortium. CHEK2*1100delC and Susceptibility to Breast Cancer: A Collaborative Analysis Involving 10,860 Breast Cancer Cases and 9,065 Controls from 10 Studies. American Journal of Human Genetics 74:1175-1182 (2004)

Berchuck, A., Shildkraut, J., Wenham, R.M., Calingaert, B., Ali, S., Henriott, A., Halabi, S., Rodgriguez, G.C., Gertig, D., Purdie, D,M., Keleman, L., Spurdle, A.B., Marks, J. and Chenevix-Trench, G. Progesterone receptor +331A polymorphism is associated with a reduced risk of endometrioid and clear cell ovarian cancers. Cancer Epidemiology, Biomarkers and Prevention 13:2141-7 (2004)

Campbell, I.G., Choong, D., Chenevix-Trench, G. and kConFab. No germline mutations in the histone acetyltransferase gene EP300 in BRCA1 and BRCA2 negative breast cancer families with breast cancer and gastric, pancreatic or colorectal cancer. Breast Cancer Research 6:R366-71 (2004)

Stephens P, Hunter C, Bignell G, Edkins S, Davies H, Teague J, Stevens C, O'Meara S, Smith R, Parker A, Barthorpe A, Blow M, Brackenbury L, Butler A, Clarke O, Cole J, Dicks E, Dike A, Drozd A, Edwards K, Forbes S, Foster R, Gray K, Greenman C, Halliday K, Hills K, Kosmidou V, Lugg R, Menzies A, Perry J, Petty R, Raine K, Ratford L, Shepherd R, Small A, Stephens Y, Tofts C, Varian J, West S, Widaa S, Yates A, Brasseur F, Cooper CS, Flanagan AM, Knowles M, Leung SY, Louis DN, Looijenga LH, Malkowicz B, Pierotti MA, Teh B, Chenevix-Trench G, Weber BL, Yuen ST, Harris G, Goldstraw P, Nicholson AG, Futreal PA, Wooster R, Stratton MR. Lung cancer: intragenic ERBB2 kinase mutations in tumours. Nature 431:525-6 (2004)

Spurdle, A.B., Antoniou, A., Duffy., D., Pandeya, N., Keleman, L., Chen, X., Peock, S., Cook, M., Smith, P.L., Purdie, D., Newman, B., Dite, G., Apicella, C., Southey, M., Giles, G.G., Hopper, J., kConFab, EMBRACE, Chenevix-Trench, G. and Easton, D. The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Research 7:R176-R183 (2004)

Webb, P.M., Hopper, J.L., Newman, B., Chen, X., Kelemen, L., McCredie, M.R.E., Southey, M. Giles, G.G., Chenevix-Trench, G. and Spurdle, A.B. Double strand break repair gene polymorphisms and risk of breast or ovarian cancer. Cancer Epidemiology, Biomarkers and Prevention 14:319-23 (2005)

Phelan, C.M., Dapic, V., Tice, B., Favis, R., Kwan, E., Barany, F., Manoukian, S., Radice, P., van der Luijt, R., van Nesselrooif, B.P.M., Chenevix-Trench, G., kConFab, Caldes, T., de a Hoya, M., Lindquist, S., Tavtigian, S., Goldgar, D., Borg, A., Narod, S., Monteiro, A.N.A. Classification of BRCA1 missense variants of unknown clinical significance. Journal of Medical Genetics 42:138-146 (2005)

Chenevix-Trench, G., Sinilnikova, O.M., Suthers, G., Pandeya, N., Mazoyer, S., Sambrook, J.F., Goldup, S., Goldgar, D.E., Lynch, H.T., Lenoir, G.M., Cheetham, G. and kConFab Ratio of male to female births in the offspring of BRCA1 and BRCA2 carriers. Familial Cancer 4: 73-75 (2005)

Kelemen, L., Spurdle, A.B., Purdie, D.M., Gertig, D. and Chenevix-Trench, G. RAD52 Y415X truncation polymorphism and epithelial ovarian cancer risk in Australian women. Cancer Letters 218:191-7 (2005)

Jekimovs, C., Chen, X., Arnold, J., Gatei, M., Richard, D.J., kConFab Investigators, Spurdle, A.B., Khanna, K.K. and Chenevix-Trench, G. Low frequency of CHEK2 1100delC in multiple-case breast cancer families from Australia: functional analysis in heterozygous individuals. British Journal of Cancer 92:784-790 (2005)

Chang, J-H., Gertig, D.M., Dite, G.S., Jenkins, M.A., Milne, R.L., Southey, M.C., McCredie, M.R.E., Giles, G.G., Chenevix-Trench., G., Hopper, J.L., Spurdle, A.B. CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study. Breast Cancer Research 7; R513-R521 (2005)

Tesoriero, A.A., Wong. E.M., Jenkins, M., Hopper, J.L. kConFab, Brown, M., Chenevix-Trench, G., Spurdle, A.B. and Southey, M.C. Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple case breast cancer families. Human Mutation 26:495 (2005)

Kelemen, L., James, M., Spurdle, A.B., Campbell, I., Chang-Claude, J., Peel, D., Anton-Culver, H., Berchuck, A., Schildkraut, J., Whittemore, A., McGuire, V., DiCioccio, R.A., Duffy, D. and Chenevix-Trench, G. BRAF polymorphisms and risk of ovarian cancer of low malignant potential. Gynecologic Oncology 97: 807-812 (2005)

Thompson, D., Marsh, A., Chen, X., Antoniou, A., Jenkins, M., Wayne, T., Tesoriero, A., Milne, R., Spurdle, A.B., Thorstenson, Y., Southey, M., Giles, G.G., kConFab Investigators, Khanna, K.K., Sambrook, J.F., Oefner, P., Goldgar, D., Hopper, J., Easton, D. and Chenevix-Trench, G. Two ATM variants and breast cancer risk. Human Mutation 25:594-595 (2005)

Arnold, J.M., Huggard, P.R., Cummings, M.C., Ramm, G.A., Chenevix-Trench, G. Reduced expression of chemokine (C-C motif) ligand-2 (CCL2) in ovarian adenocarcinoma British Journal of Cancer 92:2024-31 (2005)

Finnis, M., Dayan, S., Hobson, L., Chenevix-Trench, G., Friend, K., Ried, K., Venter, D., Woollatt, E., Baker, E. and Richards, R.I. Common chromosomal fragile site FRA16D mutation in cancer cells. Human Molecular Genetics 14:1341-9 (2005)

Kuschel, B., Chenevix-Trench, G., Spurdle, A.B., Chen, X., Hopper, J.L., Giles, G.G. McCredie M, Chang-Claude, J., Gregory, C.S., Day, N.E., Easton, D.F., Ponder, B.A.J, Dunning, A.M. and Pharoah, P.D.P. Common polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not associated with breast cancer risk. Cancer Epidemiology, Biomarkers and Prevention 14:1828-31 (2005)

Marsh, A., Wicking, C., Wainwright, B. and Chenevix-Trench, G. Denaturing High Performance Liquid Chromatography analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. Human Mutation 26:283 (2005)

Hopper, J.L., Hayes, V.M., Spurdle, A.M., Chenevix-Trench, G., Jenkins, M.A., Milne, R.L., Dite, G.S., Tesoriero, A., McCredie, M.R.E., Giles, G.G. and Southey, M.C. A protein-truncating mutation in CYP17A1 in three sisters with early-onset breast cancer. Human Mutation 26:298-302 (2005)

Pettigrew, C., Wayte, N., Lovelock, P.K., Chenevix-Trench, G., Spurdle, A.B., and Brown, M.A. Approximately sixty percent of evolutionarily-conserved predicted exonic splice enhancers in BRCA1 are affected by breast cancer associated sequence changes. Breast Cancer Research 7:R929-R939 (DOI 10.1186/bcr1324) (2005)

Lewis, A.G.V., Flanagan, J., Marsh, A., Pupo, G., Mann, G., Spurdle, A.B., kConFab, Lindeman, G.J., Visvader, J.E., Brown, M. and Chenevix-Trench, G. Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and STN in familial breast cancer. Breast Cancer Research 7(6):R1005-R1016 (2005)

Arnold, J.M., Chong, D.Y.H., Lai, J., Campbell, I.G., and Chenevix-Trench, G. Mutation and expression analysis of LZTS1 in ovarian cancer. Cancer Letters 233: 151-157 (2006)

Lovelock, P., Healey, S., Au, W., Sum, E., Tesoriero, A., Wong, E.M., Hinson, S., Brinkworth, R., Bekessy, A., Diez, O., Izatt, L., Solomon, E., Jenkins, M., Renard, H., Hopper, J., Waring, P. kConFab, Tavtigian, S., Goldgar, D., Lindeman, G., Visvader, J., Couch, F., Henderson, B., Southey, M., Chenevix-Trench*, G., Spurdle, A., Brown, M. Genetic, functional and histopathological evaluation of two C-terminal BRCA1 missense variants. Journal of Medical Genetics (*corresponding author) 43:74-83 (2006)

Spurdle, A.B., Antoniou, A.C., Kelemen, L., Holland, H., Peock, S., Cook, M.R., Smith, P.L., Green, M.H., Simard, J., Plourde, M., Southey, M., Godwin, A., Beck, J., Miron, A., Daly, M., Santella, R., Hopper, J., John, E.M., Andrulis, I., Durocher, F., Struewing, J.P., ABCFS, AJBCS, BCFR, INHERIT, kConFaB, EMBRACE Study Collaborators, Easton, D.F. and Chenevix-Trench., G. The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiology Biomarkers and Prevention 15:76-9 (2006)

Chenevix-Trench, G., Healey, S., Lakhani, S., Waring, P., Cummings, M., Brinkworth, R., Deffenbaugh, A., Burbidge, L.A., Pruss, D., Judkins, T., Scholl, T., Bekessy, A., Marsh, A. Lovelock, P. Wong, M., Tesoriero, A., Renard, H., Southey, M., Hopper, J.L., Yannoukakos, K., Couch, F., Brown, M., kConFab Investigators, Easton, D., Tavtigian, S.V., Jenkins, M., Goldgar, D. and Spurdle, A.B. Genetic and histopathological evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Research 66:2019-2027 (2006)

Mann, G.J., Thorne, H., Balleine, R.L., Butow, P.N., Clarke, C.L., Edkins, E., Evans, G.M., Fereday, S., Haan, E., Gattas, M., Giles, G.G., Goldblatt, J., Hopper, J.L., Kirk, J., Leary, J.A., Lindeman, G., Niedermayr, E., Phillips, K.A., Picken, S., Pupo, G.M., Saunders, C., Scott, C.L., Spurdle, A.B., Suthers, G., Tucker, K., Chenevix-Trench, G. for The Kathleen Cuningham Consortium for Research in Familial Breast Cancer. Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource. Breast Cancer Research 8: R12 (2006)

Smith, P., McGuffog, L., Easton, D.F., Mann, G.M., Pupo, G., Newman, B., Chenevix-Trench, G., kConFab Investigators, Szabo, C., Southey, M., Renard, H., Odefrey, F., Lynch, H., Stoppa-Lyonnet, D., Couch, F., Hopper, J.L., Buys, S., Andrulis, I., Senie, R., BCFS, BRCAX Collaborators group, Goldgar, D.E., Oldenburg, R., Kroeze-Jansema, K., Kraan, J., Meijers-Heijboer, H., Klijn, J.G.M., van Asperen, C., van Leeuwen, I., Vasen, H.F.A., Cornelisse, C.J., Devilee, P., Baskcomb, L., Seal, S., Barfoot, R., Mangion, J., Hall, A., Edkins, S., Rapley, E., Wooster, R., Chang-Claude, J., Eccles, D., Evans, D.G.R., Futreal, P.A., Nathanson, K.L., Weber, B., the Breast Cancer Susceptibility Collaboration (UK), Rahman, N. Stratton, M.R. A genome wide linkage search for breast cancer susceptibility genes. Genes, Chromosomes and Cancer 45: 646-655 (2006)

Bernstein, J.L., Teraoka, S., Southey, M.C., Jenkins, M.A., Andrulis, I.L., Knight, J.A., John, E.M., West, D., Lapinski, R., Wolitzer, A., Whittemore, A.S., West, D., Seminara, D., Olson, E.R., Spurdle, A.B., Chenevix-Trench, G., Giles, G.G., Hopper, J.L., Concannon, P. Population-based estimates of breast cancer risks associated with the ATM gene variants 7271T>G and IVS10-6T>G from the Breast Cancer Family Registry. Human Mutation 27: 1122-1128 (2006)

The Breast Cancer Association Consortium. Commonly studied SNPs and breast cancer: negative results from 10,000 - 30,000 cases and controls from the Breast Cancer Association Consortium. Journal of the National Cancer Institute 98: 1382-1396 (2006)

Lose, F., Chenevix-Trench, G., kConFab, Mann, G., Pupo, G. and Spurdle, A.B. Variation in the RAD51 gene and familial breast cancer. Breast Cancer Research 8:R26 (2006)

Waddell, N., Jonnalagadda, J., Marsh, A., Grist, S., Jenkins, M., Hobson, K., Taylor, M., Lindeman, G., Tavtigian, S.V., Suthers, G., Goldgar, D., Oefner, P.J., kConFab Investigators, Taylor, D., Grimmond, S., Khanna, K., and Chenevix-Trench, G. Characterisation of the breast-cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling. Genes, Chromosomes and Cancer 45:1169-81 (2006)

Lovelock, P.K., Wong, E.M., Sprung, C., Marsh, A., Hobson, K., French, J., Southey, M., kConFab Investigators, Sculley, T., Pandeya, N., Brown, M.A, Chenevix-Trench, G., Spurdle, A.B. and McKay, M. Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell line phenotypic variability. Breast Cancer Treatment and Research Oct 25; [Epub ahead of print] (2006)

Nagle, C.M., Chenevix-Trench, G., Spurdle, A.B., Webb, P.M. The role of glutathione-S-transferase polymorphisms in ovarian cancer survival. European Journal of Cancer 43:283-90 (2007)

Gayther, S.A., Song, H., Ramus, S.J., Krüger Kjaer, S., Whittemore, A., Quaye, L., Tyre, J., Shadforth, D., Hogdall, E., Hogdall, C., Blaeker, J., DiCioccio, R., McGuire, V., Webb, P.M., Beesley, J., The Australian Ovarian Cancer Study Group, Green, A.C., Whiteman, D.C., The Australian Cancer Study (Ovarian Cancer), Goodman, M.T., Lurie, G., Carney, M.E., Modugno, F., Ness, R.B., Edwards, R.P., Moysich, K.B., Goode, E.L., Couch, F.J., Cunningham, J.M., Sellers, T.A., Wu, A.H., Pike, M.C., Iversen, E.S., Marks, J.R., Garcia-Closas, M., Brinton, L., Lissowska, J., Peplonska, B., Easton, D.F., Jacobs, I., Ponder, B.A.J., Schildkraut, J., Pearce, C.L., Chenevix-Trench, G., Berchuck A.and Pharoah, P.D.P. on behalf of the Ovarian Cancer Association Consortium. Tagging Single Nucleotide Polymorphisms in Cell Cycle Control Genes and Susceptibility to Invasive Epithelial Ovarian Cancer. Cancer Research 67: 3027-3035 (2007)

Cox, A., Dunning, A.M., Garcia-Closas, M., Balasubramanian, S., Reed, W.W.R., Pooley, K.A., Scollen, S., Ponder, B.A.J., Chanock, S., Lissowska, J., Brinton, L., Southey, M.C., Hopper, J.L., McCredie, M.R.E., Giles, G.G., Fletcher, O., Johnson, N., dos Santos Silva, I., Gibson, L., Bojesen, S.E., Nordestgaard, B.G., Axelsson, C.K., Torres, D., Hamann, U., Justenhoven, C., Brauch, H., Chang-Claude, J., Kropp, S., Risch, A., Wang-Gohrke, S., Schurmann, P., Bogdanova, N., Dörk, T., Fagerholm, R., Aaltonen, K., Blomqvist, C., Nevanlinna, H., Seal, S., Renwick, A., Stratton, M.R., Rahmeen, N., Sangrajrang, S., Hughes, D., Odefrey, F., Brennan, P., Spurdle, A.B., Chenevix-Trench, G., Beesley, J., The Katherine Cuningham Foundation Consortium for Research into Familial Breast Cancer, Mannermaa, A., Hartikainen, J., Kataja, V., Kosma, V-M., Couch, F.J., Olson, J., Goode, E., Broeks, A., Schmidt, M.K., Hogervorst, F.B.L., Van't Veer, L.J., Kang, D., Yoo, K-Y., Noh, D-Y., Ahn, S-H., Wedren, S., Hall, P., Low, Y-L., Jiu, J., Milne, R.L., Ribas, G., Gonzalez-Neira, A., Benitez, J., Sigurdson, A.J., Stredrick, D.L., Alexander, B.H., Struewing, J.P., Pharoah, P.P., and Easton, D.F. on behalf of the Breast Cancer Association Consortium. A common coding variant in CASP8 is associated with breast cancer risk. Nature Genetics 39:352-8 (2007)

Nagle, C.M., Chenevix-Trench, G., Webb, P.M. and Spurdle, A.B. Ovarian cancer survival and polymorphisms in hormone and DNA repair pathway genes. Cancer Lett. 25196-104 (2007)

Marsh, A., Healey, S., Lewis, A.G., Spurdle, A.B., Kedda, M.A., Khanna, K.K., kConFab, Mann, G., Pupo, G.M., Lakhani, S.R., Chenevix-Trench, G. Mutation analysis of five candidate genes in familial breast cancer. Breast Cancer Treatment and Research 105:377-89 (2007)

Greenman, C., Stephens, P., Smith, R., Dalgliesh, G., Hunter, C., Bignell, G., Davies, H., Teague, J., Butler, A., Stevens, C., Edkins, S., O'Meara, S., Avis, T., Barthorpe, S., Bhamra, G., Buck, G., Choudhury, B., Clements, J., Cole, J., Dicks, E., Forbes, S., Gray, K., Halliday, K., Harrison, R., Hills, K., Hinton, J., Jenkinson, A., Jones, D., Menzies, A., Mironenko, T., Perry, J., Raine, K., Richardson, D., Shepherd, R., Small, A., Tofts, C., Varian, J., Webb, T., West, S., Widaa, S., Yates, A., Cahill, D.P., Louis, D.N., Goldstraw, P., Nicholson, A.G., Brasseur, F., Looijenga, L., Weber, B.L., Chiew, Y., DeFazio, A., Greaves, M.F., Green, A.R., Easton, D.F., Chenevix-Trench, G., Khoo, S.K. , Tan, M., Teh, B.T., Yuen, S.T., Leung, S.Y., Wooster, R., Futreal, P.A., and Stratton, M.R. Patterns of Somatic Mutation in Human Cancer Genomes. Nature 446: 153-158 (2007)

Spurdle, A.B., Chang, J-H., Byrnes, G.B., Chen, X., Dite, G.S., McCredie, M.R.E., Giles, G.G., Southey, M.C., Chenevix-Trench, G., and Hopper, J.L. A Systematic Approach to Analysing Gene-Gene Interactions: Polymorphisms at the Microsomal Epoxide Hydrolase EPHX and Glutathione S-transferase GSTM1, GSTT1 and GSTP1 Loci and Breast Cancer Risk. Cancer Epidemiology, Biomarkers and Prevention 16:769-74 (2007)

Pagan, J.K., Arnold, J., Hanchard, K.J., Jones, M.J.K., Richard, D.J., Forrest, A., Spurdle, A., Verdin, E., Crossley, M., Chenevix-Trench, G., Young, D.B. and Khanna, K. A novel corepressor, BCOR-L1, repressed transcription through and interaction with CTBP Journal of Biological Chemistry 282:15248-57 (2007)

Couch, F.J., Sinilnikova, O., Vierkant, R.A., Pankratz, V.S., Fredericksen, Z.S., Stoppa-Lyonnet, D., Coupier, I., Hughes, D., Hardouin, A., Berthet, P., GEMO, Peock, S., Cook, M., Baynes, C., Hodgson, S., Morrison, P., Porteus, M.E., EMBRACE, Jakubowska, A., Lubinski, J., Spurdle, A.B., kConFab, Schmutzler, R., Versmold, B., Engel, C., Meindl, A., Sutter, S., Horst, J., Schaefer, D., Offitt, K., Kirshhoff, T., Andrulis, I.L., Ilyushik, E., Glennon, G., Devilee, P., Vreeswijk, M.P.G., Vasen, H.F.A., Borg, A., Backenhorn, K., Struewing, J.P., Greene, M.H., Neuhausen, S.L., Rebbeck, T.R., Nathanson, K., Domchek, S., Wagner, T., Garber, J.E., Szabo, C., Zikan, M., Foretova, L., Olson, J.E., Sellers, T.A., Lindor, N., Nevanlinna, H., Tommiska, J., Aittomaki, K., Hamann, U., Rashid, M.U., Torres, D., Simard, J., Durocher, F., Guenard, F., INHERIT, Lynch, H.T., Isaacs, C., Weitzel, J., Olopade, O.I., Narod, S., Daly, M.B., Godwin, A.K., Tomlinson, G., Easton, D.F., Chenevix-Trench, G. and Antoniou, A.C. on behalf of the Consortium of Investigators of Modifiers of BRCA1/2. AURKA F31I Polymorphism and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A CIMBA study. Cancer Epidemiology Biomarkers and Prevention 16:1416-21 (2007)

Johnatty, S.E., Spurdle, A.B., Beesley, J., Chen, X., Hopper, J.L., Duffy, D.L. and Chenevix-Trench, G. and the Kathleen Cuningham Consortium for Research into Familial Breast Cancer. Progesterone polymorphisms and risk of breast cancer: results from two Australian breast cancer studies. Breast Cancer Treatment and Research 2007 Jun 26; [Epub ahead of print]

Easton, D.F., Pooley, K.A., Dunning, A.M., Pharoah, P.D.P., Thompson, D., Ballinger, D.G., Struewing, J.P., Morrison, J., Field, H., Luben, R., Wareham, N., Ahmed, S., Healey, C.S., the Search collaborators, Haiman,C., Kolonel,L., Henderson, B., Le Marchand, L., Brennan, P., Sangrajrang, S., Gaborieau, V., Godfrey, F., Shen, C-Y., Wu, P-E., Want, H-C., Eccles, D., Evans, D.G., Fletcher, O., Peto, J., Johnson, N., Stratton, M.R., Rahman, N., Chenevix-Trench, G., Bojesen, S.E., Nordestgaard, B.e., Axelson, C.K., Garcia-Closas, M., Brinton, L., Chanock, S., Lissowska, J., Nevanlinna, H., Fagerholm, R., Eerola, H., Kang, D-H., Yoo, K.Y., Noh, D-Y., Ahn, S-H., Hunter, D.J., Hankinson, S.E., Cox, D.G., Hall, Per., Wedren, S., Liu, J.J., Yen-Ling, L., Bogdanova, N., Schurmann, P., Dörk, T., Tollenaaer, R.A.E.M., Jacobi, C.E., Klijn, J.G.M., Devilee, P., Sigurdson, A., Moody, M.M., Alexander B.H., Zhang, J., Cox, A., Brock, I.W., MacPherson, G., Read, M.W.R., Couch, F., Goode, E., Olson, J., Meijers-Hiejboer, H., Unterlinden, A., Milne, R., Ribas, G., Gonzalez, A., Benitez, J., Hopper, J., McCredie, M., Southey, M., Giles, G.G., Schroen, C., Justenhoven, C., Brauch, H., Hamann, U., Ko, Y.D., Spurdle, A.B., Beesley, J., Chen, X., kConFab, AOCS Management Group, Mannermaa, A., Kosma, V-M., Kataja, V., Hartikainen, J., Day, N.E., Cox, D.R., Ponder. B.A.J. A genome-wide association study identifies multiple novel breast cancer susceptibility loci. Nature 447:1087-93 (2007)

Antoniou, A.C., Sinilnikova, O.M., Simard, J., Léoné, M., Dumont, M., Neuhausen, S.L., Struewing, J.P., Stoppa Lyonnet, D., Barjhoux, L., Hughes, D.J., Coupier, I., Belotti, M., Lasset, C., Bonadona, V., Bignon, Y-J., GEMO, Rebbeck, T.R, Wagner, T., Lynch, H.T., Domchek, S.M., Nathanson, K.L., Garber, J.E., Weitzel, J., Narod, S.A., Tomlinson, G., Olopade, O.I., Godwin, A., Isaacs, C., Jakubowska, A., Lubinski, J., Gronwald, J., Górski, B., Byrski, T., Huzarski, T., Peock, S., Cook, M., Baynes, C., Gray, J., Daly, P.A., Dorkins, H., EMBRACE, Schmutzler, R.K., Versmold, B., Engel, C., Meindl, A., Arnold, N., Niederacher, D., Deissler, H., Spurdle, A.B., Chen, Waddell, N., Cloonan, N., kConFab, Kirchhoff, T., Offit, K., Friedman, E., Kaufmann, B., Laitman, Y., Galore, G., Rennert, G., Lejbkowicz, F., Raskin, L., Andrulis, E.L., Ilyushik, E., Ozcelik, H., Devilee, P., Vreeswijk, M.P.G., Greene, M.H., Prindiville, S.A., Osorio, A., Benítez, J., Zikan, M., Szabo, C.I., Kilpivaara, O., Nevanlina, H., Hamann, U., Durocher, F., Arason, A., Fergus Couch, F., Easton, D.F. and Chenevix-Trench, G. on behalf of the Consortium of Investigators of Modifiers of BRCA1/2. RAD51 135G>C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies American Journal of Human Genetics 81:1186-200 (2007)

Johnatty, S.E., Nagle, C.M., Spurdle, A.B., Australian Breast Cancer Family Study, Chen, X., Webb, P.M and Chenevix-Trench, G. The MnSOD Val9Ala polymorphism, dietary oxidant intake, risk and survival in ovarian cancer. Gynecologic Oncology 107:388-91 (2007)

Lose, F., Arnold, J., Young, D., Brown, C.J., Mann, G., Pupo, G., kConFab, Khanna, K.K., Chenevix-Trench, G. and Spurdle, A.B. Variation in the BCoR-L1 gene and breast cancer. Breast Cancer Research 9:R54 (2007)

Beesley, J., Jordan, S., Spurdle, A.B., Australian Ovarian Cancer Study Group, Australian Cancer Study (Ovarian Cancer), Australian Breast Cancer Family Study, Song, H. Ramus, S.J., Kruger Kjaer, S. Hogdall, E., DiCioccio, R.A., McGuire, V., Whittemore, A. S.,Gayther, S.A., Pharoah, P.D.P.. Webb, P.M. and Chenevix-Trench, G. Association between SNPs in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set. Cancer Epidemiology Biomarkers and Prevention 16:2557-65 (2007)

Lovelock, P., K., Spurdle, A.B., Mok, M., Farrugia, D.J., Lakhani, S., Healey, S., Arnold, S., Buchanan, D., kConFab Investigators, Couch, F., Henderson, B.R., Goldgar, D., Tavtigian, S.V., Chenevix-Trench, G., Brown, M.A. Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? Breast Cancer Research Nov 26;9(6):R82 [Epub ahead of print] (2007)

Wayte, M., da Silva, L., Chenevix-Trench, G., and Lakhani, S.R. What's in a cancer syndrome? Genes, phenotype and pathology. Pathology (in press)

Frank, B., Wiestler, M., Kropp, S., Hemminki, K., Spurdle, A.B., Sutter, C., Wappenschmidt, B., Chen, X., Beesley, J., Hopper, J.L., ABCFS Investigators, Meindl, A., Kiechle, M., Slanger, T., Bugert, P., Schmutzler, R.K., Bartram, C.R., Flesch-Janys, D., Mutschelknauss, E., Ashton, K., Salazar, R., Webb, E., Hamann, U., Brauch, H., Justenhoven, C., Ko, Y-D., Bruning, T., dos Santos-Silva, I., Johnson, N., Pharoah, P.P.D., Dunning, A.M., Pooley, K.A., Chang-Claude, J., Easton, D.F., Peto, J., Houlston, R., kConFab Investigators, AOCS Management Group, Chenevix-Trench, G., Fletcher, O., Burwinkel, B. Association of AKAP9 M463I with breast cancer risk - a collaborative analysis. Journal of the National Cancer Institute (in press)

Spurdle, A.B., Lakhani, S.R., Healey, S., Parry, S., DaSilva, L., Brinkworth, R., Hopper, J.L., kConFab Investigators, Brown, M., Babikyan, D., Chenevix-Trench, G., Tavtigian, S.V. and Goldgar, D. Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratins profiles and evolutionary analysis. Journal of Clinical Oncology (in press)

Pearce, C.L. , Wu, A.H., Gayther, S.A., Bale, A.E., Australian Cancer Study (Ovarian Cancer), Australian Ovarian Cancer Study Group, Beck, P.A., Beesley, J., Chanock, S., Cramer, D.W., DiCioccio, R., Edwards, R., Freerickson, Z.S., Garcia-Closas, M., Goode, E.L., Green, A.C., Hartmann, L.C., Hogdall, E. Kruger Kjaer, S., Lissowska, J., McGuire, V., Modugno, F., Moysich, K., Ness, R.B., Ramus, S.J., Risch, H.A., Sellers, T.A., Song, H., Stram, D.O., Terry, K.L., Webb, P.M., Whiteman, D.C., Whittemore, A., Zheng, W., Pharoah, P.D. P., Chenevix-Trench, G., Pike, M.C., Schildkraut, J. and Berchuck, A. on behalf of the Ovarian Cancer Association Consortium (OCAC). Progesterone Receptor Variation and Risk of Invasive Epithelial Ovarian Cancer: Results from the Ovarian Cancer Association Consortium Pooled Analysis. British Journal of Cancer 98:282-288 (2008)

Ramus, S.J., Vierkant, R.A., Johnatty, S., Pike, M.C., Van Den Berg, D.J., AWu, A.H., Pearce, C.P., Menon, U., Gentry-Maharaj, A., Gayther, S.A, DiCioccio, R., McGuire, V., Whittemore, A.S., Song, H., Easton, D.F., Pharoah, P.D.P, Chanock, S., Lissowska, J., Brinton, L., Garcia-Closas, M., Terry, K.L., Cramer, D.W., Tworoger, S.S., Hankinson, S.E., Berchuck, A., Moorman, P.G., Schildkraut, J., Cunningham, J.M., Kruger Kjaer, S., Blaeker, J., Hogdall, C., Hogdall, E., Moysich, K.B, Edwards, R.P., Ness, R.B., Carney, M.E., Lurie, G., Goodman, M.T., Wang-Gohrke, S., Kropp, S., Chang-Claude, J., The Australian Ovarian Cancer Study Group, The Australian Cancer Study (Ovarian Cancer), Webb, P.M., Chen, X., Beesley, J., Chenevix-Trench, G., and Goode, E.L. on behalf of the Ovarian Cancer Association Consortium (OCAC) Consortium Analysis of Seven Candidate SNPs for Ovarian Cancer. International Journal of Cancer (in press)

Antoniou, A., Spurdle, A.B., Olga M. Similnikova, Healey, S., Pooley, K.A, Schutzler, R.K., Versmold, B., Engel, C., Meindl, A., Arnold, N., hofmann, W., Sutter, C., Niederacher, D., Deisler, H., Caldes, T., Kampjarvi, K., Nevanlimna, H., Simard, J., Beesley, J., Chen, X., kConFab, Neuhausen, S.L., Rebbeck, T.R., Wagner, T., Lynch, H.T., Isaacs, C., Weitzel, J., Ganz, P.A., Daly, M.B., Tomlinson, G., Olopade, O.I., Blum, J.L., Couch, F.J., Pertolong, P., Manoukian, S., Barile, M., Radice, P., Szabo, C.I., Pereira, L.H.M., Greene, M.H., Rennert, G., Lejbkowicz, F., Barnett-Griness, O., Andrulis, I., Ozcelik, H., OCGN, Gerdes, A-M., Caligo, M.A., Laitman, Y., Kaufmann, B., Milgrom, R., Friedman, E., SWE-BRCA, Domchek, S.M., Nathanson, K.L., Osorio, A., Llort, G., Milne, R.L., Benitez, J., Hamann, U., Hogervorst, F.B.L., Rookus M.A., Manders, P., Ligtenberg, M.L.J., van den Ouweland, A.M.W., Peock, S., Cook, M., Platte, R., Evans, D.G., Eeles, R., Pichert, G., Chu, G., Eccles, D., Davidson, R., Douglas, F., EMBRACE, Godwin, A.K., Barjhoux, L., Mazoyer, S., Sobol, H., Bourdon, V., Eisinger, F., Chompret, A., Capoulade, C., Bressac-de-Paillerets, B., Lenoir, G.M., Gauthier-Villars, M., Houdayer, C., Stoppa-Lyonnet, D., Chenevix-Trench, G. and Easton, D.F. on behalf of CIMBA Common breast cancer predisposition alleles modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. American Journal of Human Genetics (Epub March 2008)

Garcia-Closas, M., Hall, P., Nevanlinna, H., Pooley, K., Morrison, J., Richesson, D., Bojesen, S.E., Nordestgaard, B.G., Axelsson, C.K., Arias, J.I., Milne, R.L., Ribas, G., Gonzalez-Neira, A., Benitez, J., Zamora, P., Brauch, H., Justenhoven, C., Hamann, U., Ko, Y-D., Bruening, T., Haas, S., Dork, T., Schurmann, P., Hillemanns, P., Borddanova, N., Bremer, M., Karstens, J.H., Fagerholm, R., Aaltonen, K., Aittomaki, K., von Smitte, K., Blomqvist, C., Mannermaa, A., , Uusitupa, M., Eskelinin, M., Tengstrom, M., Kosma, V-M., Kataja, V., Chenevix-Trench, G., Spurdle, A.B., Beesley, J., Chen, X., Australian Ovarian Cancer Study Group, The Kathleen Cuningham Foundation for Research into Familial Breast Cancer, Devilee, P., van Asperen, C., Jacobi, C.E., Tollenaar, R.A.E.M., Huijts, P., Klign, J., Chang-Claude, J., Kropp, S., Slanger, T., Flesch-Janys, D., Mutschelknauss, E., Salazar, R., Wang-Gohrke, S., Couch, F., Goode, E., Olsen, J.E., Vachon, C., Frederiicksen, Z.S., Giles, G.G., Baglietto, S., Severi, G., Hopper, J.L., English, D.R., Soutehy, M.C., Haiman, C., Henderson, B.E., Kolonel, L.N., Le Marchand, L., Stram, D.O., Hunter, D.J., Handkinson, S.E., Cox, D.G., Tamini, R., Kraft, P., Sherman, M., Chanock, S., Lissowska, J., Brinton, L., Peplonska, B., Klijn, Hooning, M., Meigjers-Heijboer, H., Collee, J.M., van den Ouweland, A., Uitterlinden, A., Liu, J., Lin, L.Y., Yuqing, L., Humphreys, K., Czene, K., Cox, A.,Balasubramanian, S.P., Cross, S.S., Reed, M.W.R., Blows, F., Driver, K., Dunning, A., Ponder, B.A.J., Sangrajrang, A., Brennan, P., McKay, J., Odefrey, F., Gabrieua, V., Sigurdson, A., Doody, M., Struewing, J., Alexander, B., Easton, D.F., Pharoah. P. for the Breast Cancer Association Consortium. Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLOS Genetics (in press)

Waddell, N., Ten Haaf, A., Marsh, A., Johnson, J., Walker, L., kConFab Investigators, Gongora, M., Brown, M,, Grover, P., Girolami, M., Grimmond, S., Chenevix-Trench, G. and Spurdle, A.B. Post-Irradiation Gene Expression Profiles of Lymphoblastoid Cell Lines are Influenced by BRCA1 and BRCA2 Missense Variants of High and Low Clinical Significance. PLOS Genetics (in press)

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