Gayther, S.A., Song, H., Ramus, S.J., Kjaer, S.K., Whittemore, A.S., Quaye, L., ...
High-risk susceptibility genes explain
Patterns of somatic mutation in human cancer genomes (2007)
Greenman, C, Stephens, P, Smith, R, Dalgliesh, GL, Hunter, C, Bignell, G, ...
Cancers arise owing to mutations in a subset of genes that confer growth advantage. The availability of the human genome sequence led us to propose that systematic resequencing of cancer genomes for...
Spurdle, AB, Chang, JH, Byrnes, GB, Chen, XQ, Dite, GS, McCredie, MRE, ...
Objective: We undertook a case-control study in an Australian Caucasian population-based sample of 1,246 cases and 664 controls to assess the roles 3 of detoxification gene polymorphisms EPHX T > C...
BCoR-L1 variation and breast cancer (2007)
Lose, F, Arnold, J, Young, DB, Brown, CJ, Mann, GJ, Pupo, GM, ...
Introduction BRCA1 is involved in numerous essential processes in the cell, and the effects of BRCA1 dysfunction in breast cancer carcinogenesis are well described. Many of the breast cancer...
Mutation analysis of five candidate genes in familial breast cancer (2007)
Marsh, A., Healey, S., Lewis, A., Spurdle, A.B., Kedda, M.A., Khanna, K.K., ...
A novel corepressor, BCoR-L1, represses transcription through an interaction with CtBP (2007)
Pagan, JK, Arnold, J, Hanchard, KJ, Kumar, R, Bruno, T, Jones, MJK, ...
Corepressors play a crucial role in negative gene regulation and are defective in several diseases. BCoR is a corepressor for the BCL6 repressor protein. Here we describe and functionally...
Lovelock, P. K., Wong, E. M., Sprung, C. N., Marsh, A., Hobson, K., French, J. D., ...
Background and purpose Assays to determine the pathogenicity of unclassified sequence variants in disease-associated genes include the analysis of lymphoblastoid cell lines (LCLs). We assessed the...
Waddell, N., Jonnalagadda, J., Marsh, A., Grist, S., Jenkins, M., Hobson, K., ...
Mutations in ATM are responsible for the autosomal recessive disorder ataxia telangiectasia. Heterozygous mutations in ATM have been associated with an elevated risk of breast cancer. We previously...
Variation in the RAD51 gene and familial breast cancer (2006)
Lose, F., Lovelock, P., Chenevix-Trench, G., Mann, G. J., Pupo, G. M., Spurdle, A. B.
Common chromosomal fragile site FRA16D mutation in cancer cells (2005)
Finnis, M., Dayan, S., Hobson, L., Chenevix-Trench, G., Friend, K. L., Ried, Karin, ...
Neither the molecular basis for common fragile site DNA instability nor the contribution of this form of chromosomal instability to cancer is clearly understood. Fragile site FRA16D (16q23.2) is...
Ratio of male to female births in the offspring of BRCA1 and BRCA2 carriers (2005)
Chenevix-Trench, G., Sinilnikova, O. M., Suthers, Graeme Kemble, Pandeya, N., Mazoyer, S., Sambrook, J. F., ...
Common chromosomal fragile site FRA16D mutation in cancer cells (2005)
Finnis, M., Dayan, S., Hobson, L., Chenevix-Trench, G., Friend, K. L., Ried, Karin, ...
Neither the molecular basis for common fragile site DNA instability nor the contribution of this form of chromosomal instability to cancer is clearly understood. Fragile site FRA16D (16q23.2) is...
Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer (2005)
Lewis, A. E., Flanagan, J., Marsh, A., Pupo, G., Mann, G. J., Spurdle, A. B., ...
Introduction Mutations in known predisposition genes account for only about a third of all multiple-case breast cancer families. We hypothesized that germline mutations in FANCD2, BRIP1/ BACH1, LMO4...
Pettigrew, C., Wayte, N., Lovelock, P. K., Tavtigian, S. V., Chenevix-Trench, G., Spurdle, A. B., ...
Introduction Aberrant pre-mRNA splicing can be more detrimental to the function of a gene than changes in the length or nature of the encoded amino acid sequence. Although predicting the effects of...
Tesoriero, A. A., Wong, E. M., Jenkins, M. A., Hopper, J. L., KConFab, K. C. F., Brown, M. A., ...
Genetic screening of women from multiple-case breast cancer families and other research-based endeavors have identified an extensive collection of germline variations of BRCA1 and BRCA2 that can be...
Pettigrew, C., Wayte, N. J., Lovelock, P. K., Tavtigian, S., Chenevix-Trench, G., Spurdle, A. B., ...
Genetic and immunohistopathological evaluation of BRCA1 and BRCA2 unclassified variants (2005)
Chenevix-Trench, G., Healey, S. C., Lakhani, S., Brinkworth, R. I., KConFab, K. C. F., Marsh, A., ...
Reduced expression of chemokine (C-C motif) ligand-2 (CCL2) in ovarian adenocarcinoma (2005)
Arnold, JM, Huggard, PR, Cummings, M, Ramm, GA, Chenevix-Trench, G
Chemokine (C-C motif) ligand-2 (CCL2) is a chemoattractant and activator of macrophages and is a key determinant of the macrophage infiltrate into tumours. We demonstrate here that CCL2 is expressed...
Double-strand break repair gene polymorphisms and risk of breast or ovarian cancer (2005)
Webb, PM, Hopper, JL, Newman, B, Chen, XQ, Kelemen, L, Giles, GG, ...
Deficiencies in DNA repair have been hypothesized to increase cancer risk and excess cancer incidence is a feature of inherited diseases caused by defects in DNA damage recognition and repair. We...
Jekimovs, C. R., Chen, X., Arnold, J., Gatei, M., Richardson, D. J., KConFab Investigators, ...
A protein-truncating variant of CHEK2, 1100delC, is associated with a moderate increase in breast cancer risk. We have determined the prevalence of this allele in index cases from 300 Australian...
RAD52 Y415X truncation polymorphism and epithelial ovarian cancer risk in Australian women (2005)
Kelemen, L, Spurdle, AB, Purdie, DM, Gertig, D, Chenevix-Trench, G
The RAD52 gene is involved in the homologous recombination repair pathway and is a plausible candidate ovarian cancer predisposition gene. We undertook a case-control comparison of 508 epithelial...
Lung cancer: Intragenic ERBB2 kinase mutations in tumours (2004)
Stephens, P., Hunter, C., Bignell, G., Edkins, S., Davies, H., Teague, J., ...
The protein-kinase family is the most frequently mutated gene family found in human cancer and faulty kinase enzymes are being investigated as promising targets for the design of antitumour...
Mutations of the BRAF gene in human cancer (2002)
Davies, H., Bignell, G.R., Cox, C., Stephens, P., Edkins, S., Clegg, S., ...
Cancers arise owing to the accumulation of mutations in critical genes that alter normal programmes of cell proliferation, differentiation and death. As the first stage of a systematic genome-wide...
Spurdle, AB, Hopper, JL, Chen, XQ, McCredie, MRE, Giles, GG, Venter, DJ, ...
An Alu insertion polymorphism of the progesterone receptor (PR) was reported recently to be associated with a reduced risk of breast cancer, with risks of 0.8- and 0.3-fold associated with the...
Spurdle, AB, Hopper, JL, Chen, XQ, Dite, GS, Cui, JS, McCredie, MRE, ...
The BRCA2 N372H nonconservative amino acid substitution polymorphism appears to affect fetal survival in a sex-dependent manner, and the HH genotype was found to be associated with a 1.3-fold risk of...
Dominant negative ATM mutations in breast cancer families (2002)
Chenevix-Trench, G., Spurdle, A. B., Gatei, M., Kelly, H., Marsh, A., Chen, X., ...
Background: The ATM gene encoding a putative protein kinase is mutated in ataxia-telangiectasia (A-T), an autosomal recessive disorder with a predisposition for cancer. Studies of A-T families...
Wang, Wendy. W., Spurdle, Amanda. B., Kolachana, Prema, Bove, Betsy, Modan, Baruch, Ebbers, Sarah. M., ...
Spurdle, AB, Purdie, DM, Webb, PM, Chen, XQ, Green, A, Chenevix-Trench, G
Functional significance has been demonstrated in vitro for the exon 3 T-->C Tyr113His amino acid substitution polymorphism of the microsomal epoxide hydrolase (EPHX) gene. The higher activity or...
Spurdle, AB, Webb, PM, Purdie, DM, Chen, XQ, Green, A, Chenevix-Trench, G
The phase II glutathione S-transferases (GSTs) GSTT1, GSTM1 and GSTP1 catalyse glutathione-mediated reduction of exogenous and endogenous electrophiles. These GSTs have broad and overlapping...
Spurdle, AB, Webb, PM, Purdie, DM, Chen, XQ, Green, A, Chenevix-Trench, G
Epidemiological studies suggest that ovarian cancer is an endocrine-related tumour, and progesterone exposure specifically may decrease the risk of ovarian cancer. To assess whether the progesterone...
Reduced expression of intercellular adhesion molecule-1 in ovarian adenocarcinomas (2001)
Arnold, JM, Cummings, M, Purdie, D, Chenevix-Trench, G
Ovarian adenocarcinomas develop as the result of multiple genetic, and epigenetic changes in the precursor ovarian surface epithelial (OSE) cells which result in a malignant phenotype. We...
Analysis of the TGF beta functional pathway in epithelial ovarian carcinoma (2001)
Francis-Thickpenny, KM, Richardson, DM, Van Ee, CC, Love, DR, Winship, IM, Baguley, BC, ...
Epithelial ovarian carcinoma is often diagnosed at an advanced stage of disease and is the leading cause of death from gynaecological neoplasia. The genetic changes that occur during the development...
Marsh, A, Spurdle, AB, Turner, BC, Fereday, S, Thorne, H, Pupo, GM, ...
Background: Mutations in BRCA1 and BRCA2 account for approximately 50% of breast cancer families with more than four affected cases, whereas exonic mutations in p53, PTEN, CHK2 and ATM may account...
Decreased expression of the Id3 gene at 1p36.1 in ovarian adenocarcinomas (2001)
Arnold, JM, Mok, SC, Purdie, D, Chenevix-Trench, G
The molecular events that drive the initiation and progression of ovarian adenocarcinoma are not well defined. We have investigated changes in gene expression in ovarian cancer cell lines compared to...
Boonchai, W., Green, A., Ng, J. C., Dicker, A., Chenevix-Trench, G.
Background: Ingestion of trivalent inorganic arsenic has long been recognized as a cause of basal cell carcinomas (BCCs) anti has been reported most often in Taiwan and Singapore. Objective: Our...
Expression of b-catenin, a key mediator of the wnt signaling pathway, in basal cell carcinoma (2000)
Boonchai, W., Walsh, M., Cummings, M. C., Chenevix-Trench, G.
Expression of p53 in arsenic-related and sporadic basal cell carcinoma (2000)
Boonchai, W, Walsh, M, Cummings, M, Chenevix-Trench, G
Background: The TP53 gene has been shown to have an important role in the genesis of sporadic, presumably mainly sunlight-related, basal cell carcinoma (BCC). However, its role in arsenic-related...
Androgen receptor EXON 1 CAG repeat length and risk of ovarian cancer (2000)
Spurdle, A. B., Webb, P. M., Chen, X. D., Martin, N., Giles, G. G., Hopper, J. L., ...
Bianco, T., Chenevix-Trench, G., Walsh, D. C. A., Cooper, J. E., Dobrovic, A.
The role of BRCA1 in sporadic breast and ovarian cancers remains elusive, Direct involvement of BRCA1 in the development of breast and ovarian cancer is suggested by the finding that the BRCA1...
CYP17 promoter polymorphism and breast cancer in Australian women under age forty years (2000)
Spurdle, AB, Hopper, JL, Dite, GS, Chen, XQ, Cui, JS, McCredie, MRE, ...
Background: The cytochrome P450c17 alpha enzyme functions in the steroid biosynthesis pathway, and altered endogenous steroid hormone levels have been reported to be associated with a T to C...
The spectrum of patched mutations in a collection of Australian basal cell carcinomas (2000)
Evans, T, Boonchai, W, Shanley, S, Smyth, I, Gillies, S, Georgas, K, ...
Inactivating mutations in the human patched (PTCH) gene have been identified in both familial and sporadic basal cell carcinomas (BCCs). In some tumors mutations have been. detected in both alleles...
Sequence variants of DLC1 in colorectal ovarian tumours (2000)
Wilson, P. J., McGlinn, E., Marsh, A. J., Evans, T., Arnold, J., Wright, K., ...
CYP17 promotor polymorphism and ovarian cancer risk (2000)
Spurdle, AB, Chen, XQ, Abbazadegan, M, Martin, N, Khoo, SK, Hurst, T, ...
The CYP17 gene encodes the cytochrome P450c17 alpha enzyme, which functions at 2 different points in the steroid biosynthesis pathway, and is considered a candidate susceptibility gene for...
Evidence for microsatellite instability in bilateral breast carcinomas (2000)
Imyanitov, E. N., Togo, A. V., Suspitsin, E. N., Grigoriev, M.Y., Pozharisski, K. M., Turkevich, E. A., ...
The molecular pathogenesis of various categories of breast cancer (BC) has been well described, but surprisingly few reports have appeared on analysis of somatic mutations in bilateral BC. We have...
The E-cadherin-catenin system in ovarian cancer (1999)
Wright, K., Walsh, M. D., Cummings, M. C., Chenevix-Trench, G.
Androgen receptor exon 1 CAG repeat length and breast cancer in women before age forty years (1999)
Spurdle, A. B., Dite, G. S., Chen, X. Q., Mayne, C. J., Southey, M. C., Batten, L. E., ...
Background: We conducted a population-based, case-control-family study to determine whether androgen receptor (AR) exon 1 polymorphic CAG repeat length (CAG(n)) was a risk factor for early-onset...
Assignment of the human slit homologue SLIT2 to human chromosome band 4p 15.2 (1999)
Georgas, K. M., Burridge, L. M., Smith, K., Holmes, G. P., Chenevix-Trench, G., Ioannou, P. A., ...
Classification of BRCA1 missense variants of unknown clinical significance
Phelan, C, Dapic, V, Tice, B, Favis, R, Kwan, E, Barany, F, ...
Background: BRCA1 is a tumour suppressor with pleiotropic actions. Germline mutations in BRCA1 are responsible for a large proportion of breast–ovarian cancer families. Several missense variants...