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Search Results: 1 - 10 of 120 matches for " Felicity Lose "
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Variation in the RAD51 gene and familial breast cancer
Felicity Lose, Paul Lovelock, Georgia Chenevix-Trench, Graham J Mann, Gulietta M Pupo, Amanda B Spurdle, the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer
Breast Cancer Research , 2006, DOI: 10.1186/bcr1415
Abstract: All nine coding exons of the RAD51 gene were analysed for variation in 46 well-characterised, BRCA1/2-negative breast cancer families using denaturing high-performance liquid chromatography. Genotyping of the exon 6 p.R150Q variant was performed in an additional 66 families. Additionally, lymphoblastoid cell lines from breast cancer patients were subjected to single nucleotide primer extension analysis to assess RAD51 expression.No coding region variation was found, and all intronic variation detected was either found in unaffected controls or was unlikely to have functional consequences. Single nucleotide primer extension analysis did not reveal any allele-specific changes in RAD51 expression in all lymphoblastoid cell lines tested.Our study indicates that RAD51 is not a major familial breast cancer predisposition gene.Hereditary breast cancer accounts for around 5–10% of all breast cancer cases, while the other 90–95% is assumed to be 'sporadic', with no apparent family history. A large proportion of familial breast cancer (<40%) can be attributed to mutations in the high-risk genes BRCA1 and BRCA2 [1]. Additional breast cancer genes have been discovered, largely through disease syndromes displaying a predisposition for breast cancer. Breast cancer in families with syndromes such as Li-Fraumeni syndrome (resulting from p53 gene mutations) [2] and Cowden syndrome (the mutated PTEN gene) [3], however, are each estimated to account for less than 1% of hereditary breast cancer, and mutations in ATM (the gene mutated in ataxia telangiectasia) and CHEK2 are also predicted to account for only a small proportion of familial breast cancer [4,5]. The genetic basis of the large majority of familial breast cancer therefore remains unaccounted for.It is well known that deficiencies in DNA repair can lead to carcinogenesis. Double-stranded DNA breaks (DSBs) may be the most detrimental form of DNA damage because, if left unrepaired, the detection of broken chromosomes will lead
Genetic Association of the KLK4 Locus with Risk of Prostate Cancer
Felicity Lose, Srilakshmi Srinivasan, Tracy O’Mara, Louise Marquart, Suzanne Chambers, Robert A. Gardiner, Joanne F. Aitken, the Australian Prostate Cancer BioResource 7 , Amanda B. Spurdle, Jyotsna Batra, Judith A. Clements
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0044520
Abstract: The Kallikrein-related peptidase, KLK4, has been shown to be significantly overexpressed in prostate tumours in numerous studies and is suggested to be a potential biomarker for prostate cancer. KLK4 may also play a role in prostate cancer progression through its involvement in epithelial-mesenchymal transition, a more aggressive phenotype, and metastases to bone. It is well known that genetic variation has the potential to affect gene expression and/or various protein characteristics and hence we sought to investigate the possible role of single nucleotide polymorphisms (SNPs) in the KLK4 gene in prostate cancer. Assessment of 61 SNPs in the KLK4 locus (±10 kb) in approximately 1300 prostate cancer cases and 1300 male controls for associations with prostate cancer risk and/or prostate tumour aggressiveness (Gleason score <7 versus ≥7) revealed 7 SNPs to be associated with a decreased risk of prostate cancer at the Ptrend<0.05 significance level. Three of these SNPs, rs268923, rs56112930 and the HapMap tagSNP rs7248321, are located several kb upstream of KLK4; rs1654551 encodes a non-synonymous serine to alanine substitution at position 22 of the long isoform of the KLK4 protein, and the remaining 3 risk-associated SNPs, rs1701927, rs1090649 and rs806019, are located downstream of KLK4 and are in high linkage disequilibrium with each other (r2≥0.98). Our findings provide suggestive evidence of a role for genetic variation in the KLK4 locus in prostate cancer predisposition.
Correction: BCoR-L1 variation and breast cancer
Felicity Lose, Jeremy Arnold, David B Young, Carolyn J Brown, Graham J Mann, Gulietta M Pupo, The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Kum Khanna, Georgia Chenevix-Trench, Amanda B Spurdle
Breast Cancer Research , 2008, DOI: 10.1186/bcr2153
Abstract: The figures should therefore appear in the order shown in this correction.
BCoR-L1 variation and breast cancer
Felicity Lose, Jeremy Arnold, David B Young, Carolyn J Brown, Graham J Mann, Gulietta M Pupo, The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Kum Khanna, Georgia Chenevix-Trench, Amanda B Spurdle
Breast Cancer Research , 2007, DOI: 10.1186/bcr1759
Abstract: We performed mutation analysis of 38 BRCA1/2 mutation-negative breast cancer families with male breast cancer, prostate cancer, and/or haplotype sharing around BCoR-L1 to determine whether there is a role for BCoR-L1 as a high-risk breast cancer predisposition gene. In addition, we conducted quantitative real-time PCR (qRT-PCR) on lymphoblastoid cell lines (LCLs) from the index cases from these families and a number of cancer cell lines to assess the role of BCoR-L1 dysregulation in cancer and cancer families.Very little variation was detected in the coding region, and qRT-PCR analysis revealed that BCoR-L1 expression is highly variable in cancer-free subjects, high-risk breast cancer patients, and cancer cell lines. We also report the investigation of a new expression control, DIDO1 (death inducer-obliterator 1), that is superior to GAPDH (glyceraldehyde-3-phosphate dehydrogenase) and UBC (ubiquitin C) for analysis of expression in LCLs.Our results suggest that BCoR-L1 expression does not play a large role in predisposition to familial breast cancer.Less than 40% of familial breast cancer can be attributed to mutations in the high-risk genes BRCA1 and BRCA2 despite their high penetrance [1,2]. Syndromes displaying a predisposition for breast cancer such as Li-Fraumeni syndrome (resulting from p53 gene mutations) [3], ataxia telangiectasia (ataxia telangiectasia-mutated, or ATM, gene) [4], and Cowden syndrome (phosphatase and tensin homologue, or PTEN, gene) [5] are estimated to account for no more than 10% of familial breast cancer collectively, and additional moderate-risk genes such as CHEK2 [6] and the recently reported BRIP1 (also called BACH1) [7] and PALB2 [8,9] account for an even smaller percentage. This leaves a large proportion of the genetic basis of familial breast cancer unexplained.Interestingly, BRCA2, p53, ATM, CHEK2, and BRIP1 all interact with the multifunctional tumour suppressor, BRCA1. BRCA1-interacting proteins are logical breast cancer candid
Presentación
.lose Aparecido da Silva
Revista Latinoamericana de Psicología , 1987,
Abstract:
Book Review Heidegger and Leibniz: Reason and Faith By Renato Cristin (1998)
Felicity Haynes
Indo-Pacific Journal of Phenomenology , 2001,
Abstract: Heidegger and Leibniz: Reason and Faith. Dordrecht: Kluwer Academic Publishers. Hard Cover (130 pages + index) Indo-Pacific Journal of Phenomenology, Volume 1, Edition 1 April 2001
John Kenneth Galbraith (1908-2006), in memoriam
Felicity Williams
Análisis Económico , 2006,
Abstract:
The Power of Memory
Felicity Colman
Cultural Studies Review , 2011,
Abstract: A review of Annette Kuhn and Kirsten Emiko McAllister (eds), Locating Memory: Photographic Acts (Berghahn Books, New York and Oxford, 2006).
Historical Fiction and the Allegorical Truth of Colonial Violence in The Proposition
Felicity Collins
Cultural Studies Review , 2011,
Abstract: Firing another shot in the history wars, Prime Minister Howard used his 2006 Australia Day speech to berate postmodern approaches to historical truth. At the same time, a UK-Australia co-production, The Proposition (John Hillcoat, 2005) was enjoying critical acclaim as both a violent revisionist Western and an important film about Australia’s frontier history. It would be tempting to include this frontier film in the cycle of ‘post Mabo’ films exemplified by The Tracker (Rolf de Heer, 2002). Yet unlike The Tracker, The Proposition eschews historical reference in favour of baroque allegory. If The Tracker’s moral fable is clearly a left-liberal intervention in the history wars, The Proposition seems to offer no illumination of the present, only the unredeemed violence of retribution as the irrefutable truth of the frontier, aligning it with the 1976 mini-series, Luke’s Kingdom. This article asks in what sense history persists in the allegorical truth of frontier films which cannot be subsumed into historical representation. I argue that The Proposition offers a philosophical view of history as mediated time, rather than a political view of history as traumatic event. I contrast the popular reception of The Proposition as a revisionist, bushranger Western ‘about’ Australian history, with Routt’s counter-claim that The Proposition is an art film ‘about’ violence, revealing Australia as ‘a primal scene of annihilation.’ However, in order not to reinstate the myth of a fatal landscape as the template of Australian identity, I turn to Benjamin’s critique of Baroque allegory as a retrospective mode in which the transience of time finds expression in decay, ruin and debris. The question to be resolved is whether, by giving us multiple horizons of historical time, the revisionist film avoids being drawn into allegory’s melancholy alliance with myth, opening instead into a cinematic revelation of history’s unrealised potential.
A Kallikrein 15 (KLK15) single nucleotide polymorphism located close to a novel exon shows evidence of association with poor ovarian cancer survival
Jyotsna Batra, Christina M Nagle, Tracy O'Mara, Melanie Higgins, Ying Dong, Olivia L Tan, Felicity Lose, Lene Skeie, Srilakshmi Srinivasan, Kelly L Bolton, Honglin Song, Susan J Ramus, Simon A Gayther, Paul DP Pharoah, Mary-Anne Kedda, Amanda B Spurdle, Judith A Clements
BMC Cancer , 2011, DOI: 10.1186/1471-2407-11-119
Abstract: In silico analysis was performed to identify KLK15 regulatory elements and to classify potentially functional SNPs in these regions. After SNP validation and identification by DNA sequencing of ovarian cancer cell lines and aggressive ovarian cancer patients, 9 SNPs were shortlisted and genotyped using the Sequenom iPLEX Mass Array platform in a cohort of Australian ovarian cancer patients (N = 319). In the Australian dataset we observed significantly worse survival for the KLK15 rs266851 SNP in a dominant model (Hazard Ratio (HR) 1.42, 95% CI 1.02-1.96). This association was observed in the same direction in two independent datasets, with a combined HR for the three studies of 1.16 (1.00-1.34). This SNP lies 15bp downstream of a novel exon and is predicted to be involved in mRNA splicing. The mutant allele is also predicted to abrogate an HSF-2 binding site.We provide evidence of association for the SNP rs266851 with ovarian cancer survival. Our results provide the impetus for downstream functional assays and additional independent validation studies to assess the role of KLK15 regulatory SNPs and KLK15 isoforms with alternative intracellular functional roles in ovarian cancer survival.Ovarian cancer is an aggressive disease with high metastatic potential and is frequently diagnosed at an advanced stage [1,2]. In vitro studies show that malignant cells synthesize and secrete proteolytic enzymes which disrupt basement and extracellular membranes to allow malignant cells to invade neighboring tissues and metastasize [3]. Members of the Kallikrein-related (KLK) peptidase family are part of a proteolytic enzymatic cascade activated in aggressive forms of hormone-related cancers including ovarian cancer [4-6]. The KLKs are encoded by a 15-member gene family clustered together in a region of approximately 320 kb on chromosome 19q13.4 [5-7]. KLK15 (encoding for KLK15, previously reported as hK15, or prostinogen) is the most recently cloned member of the human kallikrein g
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