kConFab Projects
Project NumberInvestigatorsAffiliationProject TitleStarting DateData Submitted
1/03-98
Completed 		J. Kirk, C. Clarke, J. Leary Westmead Hospital Biological and genetic characteristics of normal breast in carriers Mar 1998 Mote et al., 2004
3/07-13
G. Chenevix-Trench , A. Spurdle, D. Easton, A Antoniou Queensland Institute of Medical Research (QIMR) Identification of BRCA1/2 modifier genes Aug 1998 Wang et al., 2001; Spurdle et al. (2005, 2006, 2008, 2010); Couch et al., 2007; Antoniou et al. (2007, 2008, 2009); Rebbeck et al. (2008, 2009); Johnatty et al., 2009; Sinilnikova et al., 2009; ; Osorio et al., 2009; Jakubowska et al., 2010
4/07-99
Completed 		I. Hickie, G. Chenevix-Trench University of New South Wales Prospective psychoimmunological study of women from high-risk breast cancer families Jul 1999
5/07-04
Completed July 2007 		G. Mann Westmead Institute for Medical Research Mapping and identification of novel breast cancer genes Aug 1999 Thompson et al., 2002; Smith et al., 2006; Wong et al, 2007 and all other data
6/06-03
Completed 		A. Whittemore Stanford University Modifiers of ovarian cancer risk in BRCA1/2 carriers Jun 1999 Whittemore et al., 2005
7/08-99
Completed 		K. Tucker Prince of Wales Hospital Comparison of BRCA1-associated and sporadic ovarian adenocarcinoma Aug 1999 Aghmesheh et al. (2004, 2005, 2006)
9/07-00
Completed 		C. Scott Peter MacCallum Cancer Centre Breast cancer penetrance in carriers of a BRCA1 or BRCA2 mutation enrolled in kConFaB Jul 2000 Scott et al., 2003
10/07-13
G. Chenevix-Trench, A. Spurdle, D. Easton, P. Oefner, G. Mann Queensland Institute of Medical Research Candidate gene analysis to search for BRCAx Sep 2000 Marsh et al. (2001, 2006); Chenevix-Trench et al., 2002; Thompson et al., 2005, Jekimovs et al., 2005; Lewis et al, 2005; Lose et al. (2006, 2007); Johnatty et al. (2007, 2008, 2009); Cox et al., 2007; Easton et al., 2007; Dowty et al. 2007; Frank et al., 2008; Garcia-Closas et al., 2008; Ahmed et al., 2008; Dunning et al., 2009; Gaudet et al., 2009; Milne et al., 2009; Tavtigian et al., 2010; Azzatto et al., 2010; Verderio et al., 2010
11/12-00
Completed 		I. Campbell Peter MacCallum Cancer Centre Mutation analysis of EP300 in BRCAx families Dec 2000 Campbell et al., 2004
12/12-00
Completed 		J. Leary Westmead Institute for Medical Research Frequency of large deletions in BRCA1 or BRCA2 Dec 2000 Woodward et al., 2005
13/02-01
Completed 		K. Khanna Queensland Institute of Medical Research Identification of familial cases of breast cancer due to non-functional ATM or CHK2 kinase activity Feb 2001 Jekimovs et al., 2005; Waddell et al., 2006
14/04-01
Completed 		G. Farshid, M. Cummings, R. Balleine, P. Waring Institute of Medical and Veterinary Science, Adelaise, South Australia Histology of Familial Breast Cancer Apr 2001 Farshid et al., 2006
15/05-01
Completed 		D. Callen Women's and Children's Hospital Is T13 BRCA3? May 2001
16/07-13
K. Phillips Peter MacCallum Cancer Institute Clinical Outcome Project Jan 2004 Phillips et al. (2005, 2006); McKinley et al 2006; Dawson et al, 2007; Field et al, 2008; Kiely et al., 2009
17/06-01
Completed 		G. Mann, G. Pupo Westmead Institute of Cancer Research Genes that influence susceptibility to both breast cancer and melanoma Jun 2001 Data submitted to kConFab
18/07-13
P. Butow, I.Hickie, C. Tennant, K. Tucker, G. Berry, K. Phillips University of Sydney Psychosocial and psychoimmunological predictors of developing breast cancer in women from high risk families Jun 2001, March 2008 Meiser et al, 2003; Lim et al, 2004; Butow et al 2005; Price et al, 2007
19/07-07
Completed 		M. Jenkins, J. Hopper, K. Phillips, C. Scott University of Melbourne Environmental modifiers of breast cancer risk in carriers of a germline mutation in BRCA1 or BRCA2 Aug 2001, July 2007 McGuire et al., 2006; Haile et al., 2006; BCFR et al, 2007
20/12-01
Completed 		I. Campbell, G. Lindeman, J. Visvader Peter MacCallum Cancer Institute Identification of BRCAx: analysis of genes interacting with the RING and BRCT domains of BRCA1 Dec 2001 Gorringe et al 2007
21/08-13
A. Spurdle, M. Brown, G Chenevix-Trench, D Goldgar, S Lakhani, Catherine Clarke, S Grimmond, F Couch. Queensland Institute of Medical Research Functional Evaluation of BRCA1 and BRCA2 unclassified sequence variants and identification of critical pathogenic domains Feb 2003, October 2006 Southey et al., 2003, Phelan et al., 2005; Lovelock et al. (2005, 2006, 2007); Tesoriero et al., 2005; Chenevix-Trench et al., 2006; Spurdle et al (2007, 2008, 2010); Walker et al. (2007, 2010); Tischkowitz et al., 2008; Waddell et al., 2008
23/07-02
Completed 		A. Whittemore Stanford University Genes for Hereditary Ovarian Cancer – are there others beside BRCA1 and BRCA2? Jul 2002 Data submitted to kConFab October 2006
24/07-02
Completed 		A. Whittemore Stanford University Breast cancer risk modifiers in BRCA carriers Jul 2002 Data submitted to kConFab October 2006
26/03-03
Completed 		J. Kirk Westmead Hospital Pathological features of breast cancer in women with dominant-negative mutations in the ataxia telangiectasia mutated (ATM) gene Mar 2003 Balleine et al., 2006
27/P/12-02
became 32/06-03 		M. Brown UQ Adhesion molecules in BRCA1/2 tumours Dec 2002 Wardrop et al., 2005
28/P/02-03
Completed 		G. Kay QIMR Immunofluorescence studies looking for hallmarks of X inactivation in breast cancer Feb 2003
31/11-10
Completed 		M. Brown University of Queensland Transcriptional and post-transcriptional regulation of the BRCA1 gene Oct 2003, July 2006
32/06-03
Completed 		M. Brown University of Queensland BRCA1 regulates epithelial morphogenesis and polarity and disruption of these functions contributes to BRCA1 mediated tumorigenesis Oct 2003 Data submitted to kConFab May 2005, July 2006
33/06-03
Completed 		R. Anderson Peter MacCallum Cancer Institute Expression and localization of caveolin-1 in hereditary breast cancer Oct 2003 Sent list of UPNs used
34/12-06
Completed 		I. Campbell, G. Chenevix-Trench, J. Sambrook, P. Waring Peter MacCallum Cancer Institute Genome-wide study of loss of heterozygosity to identify breast cancer predisposition genes Jun 2004, October 2006
35/03-04
Completed 		E. Lobb WA The experiences, attitudes, knowledge and psychological status of men from high risk breast cancer families Jun 2004 Lobb et al., 2009
36/05-07
Completed 		G. Chenevix-Trench, S. Grimmond, S. Lakhani QIMR Molecular Profiling of non-BRCA1/2 familial breast cancer Jun 2004; May 2007 Waddell et al., 2009
37/03-08
S. Tavtigian IARC Candidate breast cancer susceptibility genes: sequence variant discovery and differential expression analysis March 2008 Nguyen-Dumont et al., 2009; Tavtigian et al., 2010;
39/08-11
Completed 		G. Chenevix-Trench QIMR Is there a CpG island methylator phenotype in families with multiple cases of breast cancer Sep 2004; March 2006 Flanagan et al., 2010
40/07-04
Completed 		D. Bowtell, R. van Laar PMCC Expression analysis in ovarian tumours from BRCA1/2 carriers Sep 2004
41/P/09-04
Completed 		S. Fox University of Oxford The role of FOXP1 in familial breast cancer Nov 2004 Rayoo et al., 2009
42/P/09-04
Completed 		S. Fox University of Oxford The role of hypoxia in familial breast cancer Nov 2004 Yan et al., 2009
43/P/10-04
Not continued 		N. Subramaniam QIMR Relationship between prognosticators of iron overload and breast cancer Jan 2005
44/P/11-04
Completed 		A. Dobrovic PMCC Methylation of BRCA1 in mutation negative BRCA1-like tumours Feb 2005 Snell et al., 2008
45/11-04
Completed 		A. Spurdle QIMR Altered X Inactivation Profiles in Breast and Ovarian Cancer May 2005 Lose et al 2008
46/2-05
Completed 		R. Seitz AGI Comparison of BRCA mutation genotypes to immunohistochemically defined phentypes in breast carcinoma May 2005 Data Submitted Oct
48/11-13
G. Lindeman, J. Visvader, J. Sambrook The Walter and Eliza Hall Institute Breast stem cell markers and tumour stem cells in BRCA1, BRC2 and non-BRCA1/2 women Jun 2007 Lim et al, 2009
49/05-13
J. Schildkraut, T. Rebbeck Duke University Genetic modifiers of BRCA1/2 (GEMS) Oct 2005 Moorman et al., 2010
50/11-05
Completed 		D. Huntsman, J. Hopper, M. Southey BC Cancer Agency E-cadherin (CDH-1) a potential susceptibility gene for familial and early lobular breast cancer Feb 2006
51/11-05
Completed 		S.J. Dawson, J. Sambrook, Y. Antill, D. Goldgar, J. Hopper Peter MacCallum Cancer Centre Prostate cancer in hereditary breast cancer families Mar 2006 Willems et al 2008
52/02-06
Completed 		P. Butow, C. Tennant, I. Campbell, D. Duffy, M. Price, B. Meiser University of Sydney Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene Mar 2006
53/P/03-06
Completed 		L. Hutschtscha, R. Reddel Children's Medical Research Institute Proliferation life span of LiF syndrome cells Apr 2006
54/03-06
Completed 		R. Balleine Westmead Institute Insights into mechanisms of breast cancer pathogenesis from tissue pathology Apr 2006
55/05-06
Completed 		G. Chenevix-Trench, A. deFazio, D. Gertig QIMR Microarray-targeted candidate gene approach to finding ovarian cancer susceptibility genes. Aug 2006
56/09-11
J. Hopper, G. Mann, M. Jenkins, G. Byrnes, J. Dowty, C. Apicella, R. Milne, G. Dite, K. Byth Wilson, L. Baglietto, G. Severi, R. MacInnis, M. Southey, G. Giles University of Melbourne Penetrance and prevalence of BRCA1 and BRCA2 mutations Sep 2006
58/P/08-06
Completed 		M. Tosi INSERM, France Evaluation of exon 1 and 2 duplications of BRCA2 Sep 2006
59/09-11
S. Lakhani, P. Simpson University of Queensland Lobular carcinomas in familial breast cancer Oct 2006
60/07-11
Completed 		G. Chenevix-Trench, N. Wayte, D. Duffy, G. Suthers, S. Lakhani, M. Brown QIMR Searching for general cancer susceptibility genes Dec 2006
61/03-11
Completed 		G. Chenevix-Trench QIMR Micro RNA profiles in breast and ovarian tumours from kConFaB Nov 2006
62/09-11
Completed 		S. Lakhani, P. Simpson University of Queensland Exploring variation in the molecular genetic profiles of breast tumours from multiple-case families harbouring the same mutation. Feb 2007
63/12-06
Complete 		G. Chenevix-Trench, S. Lakhani, P. Simpson QIMR Gene copy analysis of kConFab tumours. Mar 2007
64/08-13
A. Spurdle, Y. Antill, J. Young, D. Duffy, D. Goldgar, S. Lakhani, G. Mann, C. Stewart, P. Webb QIMR Breast-Endometrial cancer genetic predisposition. Apr 2007
65/P/02-07
Compeled 		C. Clyne Prince Henry's Institute Regulation of aromatase by BRCA1 May 2007 Chand et al., 2009
66/06-13
S. Neuhausen University of California, Irvine SNPs in the insulin-like growth factor (IGF) pathway and breast cancer risk. Apr 2007
57/09-13
Completed 		M. Southey, J. Hopper, G. Mann, V. Hayes, M. Jenkins, G. Dite, G. Byrnes, L. Gurrin, J. Dowty, R. Milne, G. Giles, M. McCredie, D. Goldgar University of Melbourne Candidate genes for early-onset breast cancer Dec 2006
68/05-07
Completed 		G. Chenevix-Trench, G. Lindeman, J. Visvader, S. Lakhani, I. Campbell QIMR, PMCC, WEHI and University of Queensland The role of GATA3 in familial breast tumours July 2007 Arnold et al., 2009
67/02-14
M. Southey, J. Hopper, M. Jenkins, G. Byrnes et al University of Melbourne Clarifying the contribution of BRIP1 and PALB2 in breast cancer risk July 2007
69/P/08-07
Cancelled 		M. Cossai, S. Lakhani University of Queensland Molecular analysis of low grade, triple negative breast carcinomas Aug 2007
70/P/09-07
Completed 		S. Fox PMCC The role of FOXP3 and lymphoid subsets in familial breast cancer Oct 2007
71/09-07
Completed 		R. Ward, M. Hitchens St Vincent's Hospital, Sydney The role of germ line epimutations of BRCA1 and BRCA2 in early onset and familial breast cancer. Oct 2007
72/11-13
S. Lakhani, G. Chenevix-Trench, G. Lindeman, J. Visvader University of Queensland Establishment of cancer cell lines and isolation of stem cells from metastases and pleural effusions Feb 2008
73/12-07
F. Couch, A. Antoniou, D. Easton Mayo Clinic A genome wide association study for breast cancer in BRCA1 mutation carriers Feb 2008
74P/12-07
Completed 		S. Fox, I. Haviv, I. Campbell PMCC MicroRNAs in familial basal-like breast cancer Feb 2008
75/02-08
Full project, completed 		K. Phillips, J. Hopper, R. Milne Peter MacCallum Cancer Centre, The University of Melbourne Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers March 2008
76/04-08
Full project 		K. Offit Memorial Sloan-Kettering Cancer Centre, New York An international study of BRCA2 penetrance June 2008
78/07-09
Full project, completed 		J. Byrne The Children's Hospital at Westmead, Sydney Quantitative IHC analysis of tumour protein D52 expression in breast tissue from patients at high risk of developing hereditary breast cancer. June 2008
77/07-13
Full project 		G. Mitchell, G. Chenevix- Trench, A. Antoniou, D. Goldgar Peter MacCallum Cancer Centre Characterisation of the kConFab BRCAX cohort for selected breast cancer susceptibility loci and their effe.ct on breast cancer risk in this cohort May 2008
79/08-11
T. Gonda, R. Ramsay, G.Francis UQ Diamantina Institute, Peter MacCallum Cancer Centre Confirmation and Analysis of MYB amplification in BRCA1-mutant breast tumours November 2008
80/11-08
Full Project 		S. Fox, G. Mitchell, D. Bolton, D. Clouston, I. Campbell, J. Hopper Peter MacCallum Cancer Centre , Austin Health, Melbourne Prostate cancer in carriers of mutations in the BRCA1, BRCA2 and BRCAX gene March 2009
81/07-13
L. Walker, A. Spurdle QIMR, Royal Brisbane Hospital, Brisbane Investigation of copy number variants and familial breast cancer risk, and their interaction with rare BRCA1/2 sequence variants Feb 2009
82/03-09
Full application 		T. Rebbeck University of Pennsylvania School of Medicine A CIMBA-wide study to estimate mutation- specific risks of breast and ovarian cancer in BRCA1/2 mutation carriers March 2009
83/04-09
Full project 		J. Hopper, M. Southey, G. Giles, M. Jenkins, J. Dowty The University of Melbourne and The Cancer Council Victoria Phase 1 Breast Cancer Genome-Wide Association Study Using Early-Onset Cases April 2009
86/05-09
Full Project, completed July 2011 		S. Fox, J. Benitez The Peter MacCallum Cancer Centre, Melbourne & The Spanish National Cancer Research Centre, Spain Mutation type and the basal like phenotype May 2009
84/P/07-09
Completed 		C. Wakefield, B. Meiser, K. Tucker, G. Suthers The Prince of Wales Hospital, Sydney A pilot study of the Information Dissemination Preferences of Individuals with a Strong August 2009
85/04-09
Full project application 		M. Sherman, G. Chenevix- Trench, M. Garcia-Closas, J. Figueroa, P. Meltzer, S. Lakhani National Institute of Health (NIH) USA, QIMR Royal Brisbane Hospital, University of Queensland Identification of a common molecular signature for BRCA1-related and sporadic basal breast carcinoma: a pilot study towards refining the etiology of an aggressive tumor type August 2009
87/07-09
Full project application 		J. Flanagan Imperial College London Germline epigenetic alterations as a mechanism for carcinogenesis September 2009
89/07-09
Full application 		I. Campbell, E. Thompson, G. Mitchell, J. Hopper Peter MacCallum Cancer Centre & The Universty of Melbourne Identification of BRCAX genes using whole exome sequencing October 2009
93/09-09
Full application 		K. Bolton, P. Pharoah University of Cambridge BRCA1 & BRCA2 mutations and epithelial ovarian cancer prognosis October 2009
90/P/08-09
Pilot application, Completed 		G. Chenevix-Trench, J. Flanagan QIMR, Royal Brisbane Hospital & Imperial College London Patterns of methylation in BRCA1 & BRCA2 and sporadic ovarian cancer October 2009
88/07-09
Full project 		G. Chenevix-Trench, N. Waddell QIMR, Royal Brisbane Hospital, Brisbane Identification of novel breast cancer predisposition genes using exome sequencing October 2009
94/10-09
Full application 		G. Mitchell, G. Lindeman, G. Suthers Peter MacCallum Cancer Centre, Royal Melbourne Hospital, Women's and Children's Hospital, Adelaide Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls. The IMPACT Study November 2009
91/08-09
Full application, Completed 		D. Thomas Peter MacCallum Cancer Centre Molecular genetics of sarcoma in hereditary breast cancer. November 2009
92/08-09
Full application 		J. Bryne, R. Balleine The Children's Hospital at Westmead and Westmead Hospital, Sydney Quantitative immunohistochemical analysis of tumor protein D52 expression in breast tissue from patients at risk of developing hereditary breast cancer January 2010
95/P/11-09
Pilot application, Completed 		S. Fox, M. McKay Peter MacCallum Cancer Centre & Canberra Hospital Cohesins and familial cancer January 2010
98/05-10
Full application, completed 		K. Phillips, S.Harvey, J. Hopper, D. Goldgar, R. Milne, M. Friedlander, S. A. McLachlan PeterMac, The University of Melbourne, The University of Utah, USA, The Spanish Cancer Centre, Madrid, The Prince of Wales Hospital, Sydney Breast cancer risk in kConFab women known to be negative for a family mutation in BRCA1 or BRCA2. June 2010
97/04-10
Full project 		M. Cummings, J. Young, S. Lakhani, P. Simpson, M. Walsh UQ, Royal Brisbane & Womens Hospital and QIMR, Royal Brisbane Hospital, Brisbane. Immunohistochemical analysis of mismatch repair (MMR) proteins in familial and June 2010
100/07-10
Full Project 		S. Fox, G. Mitchell, J. Holt Peter MacCallum Cancer Centre Melbourne & Tissue Genetics USA The identification of BRCA germline mutations using immunhistochemistry August 2010
102/07-10
Full project 		D. Goldgar, M.Southey The University of Melbourne & Utah University USA An international meta analysis of genome wide linkage data in familial breast cancer. July 2010
103/08-10
Full application 		K. K. Khanna, S. Lakhani, G. Chenevix-Trench QIMR, Royal Brisbane Hospital, Brisbane IHC analysis of DNA repair proteins in familial breast cancer September 2010
101/09-13
Full application 		S. Hunter, I. Campbell, A. DeFazio Peter MacCallum Cancer Centre, Melbourne & Westmead Hospital, Sydney High resolution genome-wide SNP and copy number analysis of genetic September 2010
104/08-10
Full application 		S. MacGregor, G. Chenevix-Trench QIMR, Royal Brisbane Hospital, Brisbane Identifying markers of risk and outcome in breast cancer via efficient evaluation of epigenetic changes in non-cancerous tissue October 2010
99/P/05-10
Pilot Application 		J. Flanagan Imperial College London, UK Identification of novel breast cancer subgroups by DNA methylation September 2010
106/11-10
Full project 		H. Shipman Clinical Epidemiology Interdisciplinary Research Group, Cardiff University, UK Consent for novel techniques in clinical practice and genetic research: Current experiences and looking ahead November 2010
105/09-10
Full Project 		S. Chanock, K. Bolton Cancer Epidemiology and Genetics, National Cancer Institute, USA Detecting Rare Variants for Ovarian Cancer in the 19p13 region. November 2010
96/03-10
Full application 		M. Southey, D. Goldgar The University of Melbourne & The Utah University, USA A comprehensive approach to the genetics of breast cancer susceptibility in cases and families across the spectrum of risk October 2010
110/03-11
Full Application 		J. Hopper, K. Phillips, G. Dite et al The University of Melbourne, The Peter MacCallum Cancer Centre, Melbourne Statistical analysis of an international 10 year prospective family study of gene-environment interactions on risk of female breast cancer. March 2011
108/12-10
Full Project 		A. Trainer, P. James, G. Mitchell, I. Campbell, E. Thompson, S. Fox, J. Dowty, J. Hopper The Peter MacCallum Cancer Male Breast Cancer February 2011
107/12-10
Full Application 		A. Dunning, G. Chenevix-Trench Cambridge University, UK, QIMR, Brisbane Genetic Factors in Mean Telomere Length, Cancer Susceptibility April 2011
109/12-10
Full Application 		J. Beesley, G. Chenevix-Trench Queensland Institute of Medical Research The TERT locus as a susceptibility gene for ovarian and breast cancer: genetic and functional evaluation April 2011
113/04-11
Full application 		K. Phillips, I. Collins, J. Hopper, R. Milne Peter MacCallum Cancer Centre, The University of Melbourne and the National Spanish Cancer Institute. BRCA mutation status effect on age at menopause (BEAMS) May 2011
111/04-11
Full Project 		G. Chenevix-Trench, K. K. Khanna, D. Goldgar QIMR, Royal Brisbane Hospital and The University of Utah, USA Mutations in genes that modify epigenetic silencing in familial breast cancer Juen 2011
112/04-11
Full application 		G. Chenevix-Trench, P. Simpson, M. Ragan QIMR, Royal Brisbane Hospital and the University of Queensland, A systems approach to defining therapeutic targets in breast cancer. June 2011
115/07-11
Full Project 		S. Fox, S. Lakhani, R. Balleine, D. Siddhartha Peter MacCallum Cancer Centre Melbourne, Westmead Hospital Sydney, University of Queensland, Brisbane Male Breast Cancer July 2011
114/07-11
Full application 		J. Mills, J. Pedersen TissuPath, Melbourne New biomarkers for prognosis in patients who have had a radical prostatectomy August 2011
116/07-11
Full project application 		L. Heiniger, M. Price, P. Butow The University of Sydney Distress and adaption among women from high risk breast cancer families September 2011
#117/11-11
Full Project 		K.Brown, E Simpson Prince Henry's Institute, Melbourne Aromatase regulation by p53 and HIF-1 in obesity and post menopausal breast cancer. November 2011



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