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Search Results: 1 - 10 of 301207 matches for " Susan J. Ramus "
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An Epigenetic Signature in Peripheral Blood Predicts Active Ovarian Cancer
Andrew E. Teschendorff,Usha Menon,Aleksandra Gentry-Maharaj,Susan J. Ramus,Simon A. Gayther,Sophia Apostolidou,Allison Jones,Matthias Lechner,Stephan Beck,Ian J. Jacobs,Martin Widschwendter
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0008274
Abstract: Recent studies have shown that DNA methylation (DNAm) markers in peripheral blood may hold promise as diagnostic or early detection/risk markers for epithelial cancers. However, to date no study has evaluated the diagnostic and predictive potential of such markers in a large case control cohort and on a genome-wide basis.
Tagging Single Nucleotide Polymorphisms in the BRIP1 Gene and Susceptibility to Breast and Ovarian Cancer
Honglin Song, Susan J. Ramus, Susanne Krüger Kjaer, Estrid Hogdall, Richard A. DiCioccio, Alice S. Whittemore, Valerie McGuire, Claus Hogdall, Ian J. Jacobs, Douglas F. Easton, Bruce A.J. Ponder, Alison M. Dunning, Simon A. Gayther, Paul D.P. Pharoah
PLOS ONE , 2007, DOI: 10.1371/journal.pone.0000268
Abstract: Background BRIP1 interacts with BRCA1 and functions in regulating DNA double strand break repair pathways. Germline BRIP1 mutations are associated with breast cancer and Fanconi anemia. Thus, common variants in the BRIP1 are candidates for breast and ovarian cancer susceptibility. Methods We used a SNP tagging approach to evaluate the association between common variants (minor allele frequency≥0.05) in BRIP1 and the risks of breast cancer and invasive ovarian cancer. 12 tagging SNPs (tSNPs) in the gene were identified and genotyped in up to 2,270 breast cancer cases and 2,280 controls from the UK and up to 1,513 invasive ovarian cancer cases and 2,515 controls from the UK, Denmark and USA. Genotype frequencies in cases and controls were compared using logistic regression. Results Two tSNPs showed a marginal significant association with ovarian cancer: Carriers of the minor allele of rs2191249 were at reduced risk compared with the common homozygotes (Odds Ratio (OR) = 0.90 (95% CI, 0.82–1.0), P-trend = 0.045) and the minor allele of rs4988344 was associated with increased risk (OR = 1.15 (95%CI, 1.02–1.30), P-trend = 0.02). When the analyses were restricted to serous ovarian cancers, these effects became slightly stronger. These results were not significant at the 5% level after adjusting for multiple testing. None of the tSNPs was associated with breast cancer. Conclusions It is unlikely that common variants in BRIP1 contribute significantly to breast cancer susceptibility. The possible association of rs2191249 and rs4988344 with ovarian cancer risks warrant confirmation in independent case-control studies.
Assessing the usefulness of a novel MRI-based breast density estimation algorithm in a cohort of women at high genetic risk of breast cancer: the UK MARIBS study
Deborah J Thompson, Martin O Leach, Gek Kwan-Lim, Simon A Gayther, Susan J Ramus, Iqbal Warsi, Fiona Lennard, Michael Khazen, Emilie Bryant, Sadie Reed, Caroline RM Boggis, D Gareth Evans, Rosalind A Eeles, Douglas F Easton, Ruth ML Warren, The UK study of MRI screening for breast cancer in women at high risk (MARIBS)
Breast Cancer Research , 2009, DOI: 10.1186/bcr2447
Abstract: The analyses were based on MRI (n = 655) and mammography (n = 607) images obtained in the course of the UK multicentre magnetic resonance imaging breast screening (MARIBS) study of asymptomatic women aged 31 to 49 years who were at high genetic risk of breast cancer. The MRI percent and absolute dense volumes were estimated using our novel algorithm (MRIBview) while mammographic percent and absolute dense area were estimated using the Cumulus thresholding algorithm and also using a 21-point Visual Assessment scale for one medio-lateral oblique image per woman. We assessed the relationships of the MRI and mammographic measures to one another, to standard anthropometric and hormonal factors, to BRCA1/2 genetic status, and to breast cancer risk (60 cases) using linear and Poisson regression.MRI percent dense volume is well correlated with mammographic percent dense area (R = 0.76) but overall gives estimates 8.1 percentage points lower (P < 0.0001). Both show strong associations with established anthropometric and hormonal factors. Mammographic percent dense area, and to a lesser extent MRI percent dense volume were lower in BRCA1 carriers (P = 0.001, P = 0.010 respectively) but there was no association with BRCA2 carrier status. The study was underpowered to detect expected associations between percent density and breast cancer, but women with absolute MRI dense volume in the upper half of the distribution had double the risk of those in the lower half (P = 0.009).The MRIBview estimates of volumetric breast density are highly correlated with mammographic dense area but are not equivalent measures; the MRI absolute dense volume shows potential as a predictor of breast cancer risk that merits further investigation.Mammographic breast density is usually defined as the proportion of a mammographic image occupied by radiodense tissue (largely stromal and epithelial tissues, appearing as white regions) as opposed to nondense, fatty tissue (the darker regions of the image).
Association between Common Germline Genetic Variation in 94 Candidate Genes or Regions and Risks of Invasive Epithelial Ovarian Cancer
Lydia Quaye, Jonathan Tyrer, Susan J. Ramus, Honglin Song, Eva Wozniak, Richard A. DiCioccio, Valerie McGuire, Estrid H?gdall, Claus H?gdall, Jan Blaakaer, Ellen L. Goode, Joellen M. Schildkraut, Douglas F. Easton, Susanne Krüger-Kjaer, Alice S. Whittemore, Simon A. Gayther, Paul D. P. Pharoah
PLOS ONE , 2009, DOI: 10.1371/journal.pone.0005983
Abstract: Background Recent studies have identified several single nucleotide polymorphisms (SNPs) in the population that are associated with variations in the risks of many different diseases including cancers such as breast, prostate and colorectal. For ovarian cancer, the known highly penetrant susceptibility genes (BRCA1 and BRCA2) are probably responsible for only 40% of the excess familial ovarian cancer risks, suggesting that other susceptibility genes of lower penetrance exist. Methods We have taken a candidate approach to identifying moderate risk susceptibility alleles for ovarian cancer. To date, we have genotyped 340 SNPs from 94 candidate genes or regions, in up to 1,491 invasive epithelial ovarian cancer cases and 3,145 unaffected controls from three different population based studies from the UK, Denmark and USA. Results After adjusting for population stratification by genomic control, 18 SNPs (5.3%) were significant at the 5% level, and 5 SNPs (1.5%) were significant at the 1% level. The most significant association was for the SNP rs2107425, located on chromosome 11p15.5, which has previously been identified as a susceptibility allele for breast cancer from a genome wide association study (P-trend = 0.0012). When SNPs/genes were stratified into 7 different pathways or groups of validation SNPs, the breast cancer associated SNPs were the only group of SNPs that were significantly associated with ovarian cancer risk (P-heterogeneity = 0.0003; P-trend = 0.0028; adjusted (for population stratification) P-trend = 0.006). We did not find statistically significant associations when the combined data for all SNPs were analysed using an admixture maximum likelihood (AML) experiment-wise test for association (P-heterogeneity = 0.051; P-trend = 0.068). Conclusion These data suggest that a proportion of the SNPs we evaluated were associated with ovarian cancer risk, but that the effect sizes were too small to detect associations with individual SNPs.
Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry
Letitia D Smith, Andrea A Tesoriero, Ee M Wong, Susan J Ramus, Frances P O'Malley, Anna Marie Mulligan, Mary Beth Terry, Ruby T Senie, Regina M Santella, Esther M John, Irene L Andrulis, Hilmi Ozcelik, Mary B Daly, Andrew K Godwin, Saundra S Buys, Stephen Fox, David E Goldgar, Graham G Giles, John L Hopper, Melissa C Southey
Breast Cancer Research , 2011, DOI: 10.1186/bcr2822
Abstract: We studied women participating in the Breast Cancer Family Registry (BCFR), recruited via population-based sampling, who had been diagnosed with breast cancer before the age of 40 years who had a strong family history of breast or ovarian cancer (n = 187) and/or a first primary breast tumour with morphological features consistent with carrying a BRCA1 germline mutation (n = 133; 37 met both criteria). An additional 184 women diagnosed before the age of 40 years who had a strong family history of breast or ovarian cancer and who were not known to carry a germline BRCA1 mutation were selected from among women who had been recruited into the BCFR from clinical genetics services. These 467 women had been screened for BRCA1 germline mutations, and we expanded this testing to include a screen for large genomic BRCA1 alterations using Multiplex Ligation-dependent Probe Amplification.Twelve large genomic BRCA1 alterations were identified, including 10 (4%) of the 283 women selected from among the population-based sample. In total, 18 (12%), 18 (19%) and 16 (43%) BRCA1 mutations were identified in the population-based groups selected on the basis of family history only (n = 150), the group selected on the basis of tumour morphology only (n = 96) and meeting both criteria (n = 37), respectively.Large genomic alterations accounted for 19% of all BRCA1 mutations identified. This study emphasises the value of combining information about family history, age at diagnosis and tumour morphology when selecting women for germline BRCA1 mutation testing as well as including a screen for large genomic alterations.For many women with a personal and/or family history of breast cancer, knowing that they carry a germline mutation in a breast cancer predisposition gene can be informative for their clinical management and that of family members. However, mutations in currently known breast cancer predisposition genes are very rare, and the majority of women who undergo genetic testing for the
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
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
Anna Mulligan, Fergus J Couch, Daniel Barrowdale, Susan M Domchek, Diana Eccles, Heli Nevanlinna, Susan J Ramus, Mark Robson, Mark Sherman, Amanda B Spurdle, Barbara Wappenschmidt, Andrew Lee, Lesley McGuffog, Sue Healey, Olga M Sinilnikova, Ramunas Janavicius, Thomas vO Hansen, Finn C Nielsen, Bent Ejlertsen, Ana Osorio, Iván Mu?oz-Repeto, Mercedes Durán, Javier Godino, Maroulio Pertesi, Javier Benítez, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Elisa Cattaneo
Breast Cancer Research , 2011, DOI: 10.1186/bcr3052
Abstract: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach.The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 × 10-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status.The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumour subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers.Germline mutations in BRCA1 and BRCA2 confer high risks of breast, ovarian and other cancers [1-3] and account for 15 to 20% of the excess familial risk of breast cancer among first degree relatives [4,5]. Breast cancer risks for BRCA1 and BRCA2 mutation carriers have been estimated to range between 40 and 87% by age 70 [6-12] with population-based estimates tending to be lowe
"I Wish for More Than I Ever Get": Employers’ Perspectives on Employability Attributes of Architecture Graduates  [PDF]
Susan J. Shannon
Creative Education (CE) , 2012, DOI: 10.4236/ce.2012.326153
Abstract: This research considers graduate recruitment for architecture graduates. Employers in small, medium and large Australian firms, from the private and public sector were surveyed about their graduate hiring practices. Through distilling the discipline specific Graduate Attributes for all Australian Architecture Schools’ Architecture Programs, and generic Graduate Attributes for their Universities, the researcher compiled a questionnaire which was administered to prospective employers of architecture graduates. The results reveal that the possession of technical knowledge is more highly rated as a Graduate Attribute in recruitment than the possession of design knowledge/skills, and that the possession of Computer Aided Design (CAD) representation skills is more important to graduate recruiters of all firm sizes than either technical or design knowledge and skills. The research further revealed that the presentation of a portfolio is a key recruitment tool for employers, and that the demonstration of team work is a highly valued generic attribute for employers.
Inherited Variants in Regulatory T Cell Genes and Outcome of Ovarian Cancer
Ellen L. Goode, Melissa DeRycke, Kimberly R. Kalli, Ann L. Oberg, Julie M. Cunningham, Matthew J. Maurer, Brooke L. Fridley, Sebastian M. Armasu, Daniel J. Serie, Priya Ramar, Krista Goergen, Robert A. Vierkant, David N. Rider, Hugues Sicotte, Chen Wang, Boris Winterhoff, Catherine M. Phelan, Joellen M. Schildkraut, Rachel P. Weber, Ed Iversen, Andrew Berchuck, Rebecca Sutphen, Michael J. Birrer, Shalaka Hampras, Leah Preus, Simon A. Gayther, Susan J. Ramus, Nicolas Wentzensen, Hannah P. Yang, Montserrat Garcia-Closas, Honglin Song, Jonathan Tyrer, Paul P. D. Pharoah, Gottfried Konecny, Thomas A. Sellers, Roberta B. Ness, Lara E. Sucheston, Kunle Odunsi, Lynn C. Hartmann, Kirsten B. Moysich, Keith L. Knutson
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0053903
Abstract: Although ovarian cancer is the most lethal of gynecologic malignancies, wide variation in outcome following conventional therapy continues to exist. The presence of tumor-infiltrating regulatory T cells (Tregs) has a role in outcome of this disease, and a growing body of data supports the existence of inherited prognostic factors. However, the role of inherited variants in genes encoding Treg-related immune molecules has not been fully explored. We analyzed expression quantitative trait loci (eQTL) and sequence-based tagging single nucleotide polymorphisms (tagSNPs) for 54 genes associated with Tregs in 3,662 invasive ovarian cancer cases. With adjustment for known prognostic factors, suggestive results were observed among rarer histological subtypes; poorer survival was associated with minor alleles at SNPs in RGS1 (clear cell, rs10921202, p = 2.7×10?5), LRRC32 and TNFRSF18/TNFRSF4 (mucinous, rs3781699, p = 4.5×10?4, and rs3753348, p = 9.0×10?4, respectively), and CD80 (endometrioid, rs13071247, p = 8.0×10?4). Fo0r the latter, correlative data support a CD80 rs13071247 genotype association with CD80 tumor RNA expression (p = 0.006). An additional eQTL SNP in CD80 was associated with shorter survival (rs7804190, p = 8.1×10?4) among all cases combined. As the products of these genes are known to affect induction, trafficking, or immunosuppressive function of Tregs, these results suggest the need for follow-up phenotypic studies.
Estrogen Receptor Beta rs1271572 Polymorphism and Invasive Ovarian Carcinoma Risk: Pooled Analysis within the Ovarian Cancer Association Consortium
Galina Lurie, Lynne R. Wilkens, Pamela J. Thompson, Yurii B. Shvetsov, Rayna K. Matsuno, Michael E. Carney, Rachel T. Palmieri, Anna H. Wu, Malcolm C. Pike, Celeste L. Pearce, Usha Menon, Aleksandra Gentry-Maharaj, Simon A. Gayther, Susan J. Ramus, Alice S. Whittemore, Valerie McGuire, Weiva Sieh, Paul D. P. Pharoah, Honglin Song, Jacek Gronwald, Anna Jakubowska, Cezary Cybulski, Jan Lubinski, Joellen M. Schildkraut, Andrew Berchuck, Susanne Krüger Kj?r, Estrid H?gdall, Peter A. Fasching, Matthias W. Beckmann, Arif B. Ekici, Alexander Hein, Georgia Chenevix-Trench, Penelope M. Webb, Jonathan Beesley, The Australian Ovarian Cancer Study and Australian Cancer Study Groups , Marc T. Goodman, The Ovarian Cancer Association Consortium
PLOS ONE , 2011, DOI: 10.1371/journal.pone.0020703
Abstract: The association of ovarian carcinoma risk with the polymorphism rs1271572 in the estrogen receptor beta (ESR2) gene was examined in 4946 women with primary invasive ovarian carcinoma and 6582 controls in a pooled analysis of ten case-control studies within the Ovarian Cancer Association Consortium (OCAC). All participants were non-Hispanic white women. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using unconditional logistic regression adjusted for site and age. Women with the TT genotype were at increased risk of ovarian carcinoma compared to carriers of the G allele (OR = 1.10; 95%; CI: 1.01–1.21; p = 0.04); the OR was 1.09 (CI: 0.99–1.20; p = 0.07) after excluding data from the center (Hawaii) that nominated this SNP for OCAC genotyping A stronger association of rs1271572 TT versus GT/GG with risk was observed among women aged ≤50 years versus older women (OR = 1.35; CI: 1.12–1.62; p = 0.002; p for interaction = 0.02) that remained statistically significant after excluding Hawaii data (OR = 1.34; CI: 1.11–1.61; p = 0.009). No heterogeneity of the association was observed by study, menopausal status, gravidity, parity, use of contraceptive or menopausal hormones, tumor histological type, or stage at diagnosis. This pooled analysis suggests that rs1271572 might influence the risk of ovarian cancer, in particular among younger women.
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