1,117 research outputs found
Gynecological conditions and the risk of endometrial cancer
No full textMartin Oehler is a member of the Australian National Endometrial Cancer Study Group and the Australian Ovarian Cancer Study GroupAbstract not availableIngrid J. Rowlands, Christina M. Nagle, Amanda B. Spurdle, Penelope M. Webb, Australian National Endometrial Cancer Study Group, Australian Ovarian Cancer Study Grou
Serum HE4 as a prognostic marker in endometrial cancer - a population based study
No full textAbstract not availableDonal J. Brennan, Andreas Hackethal, Alex M. Metcalf, Jermaine Coward, Kaltin Ferguson, Martin K. Oehler, Michael A. Quinn, Monika Janda, Yee Leung, Michael Freemantle, ANECS Group, Penelope M. Webb, Amanda B. Spurdle, Andreas Obermai
Unveiling Melodies in Shadows: An Analysis of Swedish Female Composer Amanda Maier’s Sonata for Violin and Piano in B Minor
Get PDFAmanda Maier (1853−1894), a pioneering Swedish violinist and composer of the late nineteenth century, holds a unique place in music history as the first-ever female music director in Sweden. Despite her significant achievements, her compositions have remained relatively unknown. Therefore, the document aims to illuminate Amanda Maier's violin works, focusing on investigating her violin sonata in terms of violin performance and pedagogy. Specifically, the study offers insights into the performance techniques employed and provides other pertinent pedagogical suggestions for each movement. The document features an introductory chapter and a review of the historical context of Maier's life and the violin sonata. Subsequent chapters shift the focus to performance practice and pedagogical suggestions with theoretical analysis. One distinctive feature of the study is the inclusion of practice exercises composed originally by the author, tailored specifically to the techniques found in the sonata. These exercises aid practitioners in incorporating Maier's violin sonata into their program. The study assists violinists in diversifying their performance and teaching literature. It seeks to inspire renewed appreciation for Amanda Maier's artistic legacy because it is important to recognize the remarkable contributions of women in the classical music industry, and Amanda Maier, an underrepresented composer, exemplifies this. The document not only contributes to music research but also enhances pedagogical practices, fostering a more inclusive and equitable environment for female composers in the classical music world
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2
Get PDFBackground: BRCA1/2 testing is crucial to guide clinical decisions in patients with hereditary breast/ovarian cancer, but detection of variants of uncertain significance (VUSs) prevents proper management of carriers. The ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) BRCA1/2 Variant Curation Expert Panel (VCEP) has recently developed BRCA1/2 variant classification guidelines consistent with ClinGen processes, specified against the ACMG/AMP (American College of Medical Genetics and Genomics/Association for Molecular-Pathology) classification framework. Methods: The ClinGen-approved BRCA1/2-specified ACMG/AMP classification guidelines were applied to BRCA1/2 VUSs identified from 2011 to 2022 in a series of patients, retrieving information from the VCEP documentation, public databases, literature and ENIGMA unpublished data. Then, we critically re-evaluated carrier families based on new results and checked consistency of updated classification with main sources for clinical interpretation of BRCA1/2 variants. Results: Among 166 VUSs detected in 231 index cases, 135 (81.3%) found in 197 index cases were classified by applying BRCA1/2-specified ACMG/AMP criteria: 128 (94.8%) as Benign/Likely Benign and 7 (5.2%) as Pathogenic/Likely Pathogenic. The average time from the first report as 'VUS' to classification using this approach was 49.4 months. Considering that 15 of these variants found in 64 families had already been internally reclassified prior to this work, this study provided 121 new reclassifications among the 151 (80.1%) remaining VUSs, relevant to 133/167 (79.6%) families. Conclusions: These results demonstrated the effectiveness of new BRCA1/2 ACMG/AMP classification guidelines for VUS classification within a clinical cohort, and their important clinical impact. Furthermore, they suggested a cadence of no more than 3 years for regular review of VUSs, which however requires time, expertise and resources
Groundwater resources of the Harney Basin, southeastern Oregon
No full textauthors: Stephen B. Gingerich, C. Amanda Garcia, and Henry M. Johnson.Title from PDF caption (viewed on November 22, 2022).This archived document is maintained by the State Library of Oregon. It is for informational purposes and may not be suitable for legal purposes.Includes bibliographical references (page 6).Mode of access: Internet from the State Library of Oregon U.S. Government Publications Collection.Text in English
The use of predictive or prognostic genetic biomarkers in endometrial and other hormone-related cancers: justification for extensive candidate gene single nucleotide polymorphism studies of the matrix metalloproteinase family and their inhibitors
No full textTumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance
No full textIt is important to identify a germline mutation in a patient with an inherited cancer syndrome to allow mutation carriers to be included in cancer surveillance programs, which have been proven to save lives. Many of the mutations identified result in premature termination of translation, and thus in loss-of-function of the encoded mutated protein. However, the significance of a large proportion of the sequence changes reported is unknown. Some of these variants will be associated with a high risk of cancer and have direct clinical consequence. Many criteria can be used to classify variants with unknown significance; most criteria are based on the characteristics of the amino acid change, on segregation data and appearance of the variant, on the presence of the variant in controls, or on functional assays. In inherited cancers, tumor characteristics can also be used to classify variants. It is worthwhile to examine the clinical, morphological and molecular features of a patient, and his or her family, when assessing whether the role of a variant is likely to be neutral or pathogenic. Here we describe the advantages and disadvantages of using the tumor characteristics of patients carrying germline variants of uncertain significance (VUS) in BRCA1, BRCA2, or in one of the mismatch repair (MMR) genes, MLH1, MSH2, or MSH6, to infer pathogenicity. Hum Mutat 29(11), 1292–1303, 200
No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer
No full text<b>Background</b>\ud
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There is evidence that certain mutations in the double-strand break repair pathway ataxia-telangiectasia mutated gene act in a dominant-negative manner to increase the risk of breast cancer. There are also some reports to suggest that the amino acid substitution variants T2119C Ser707Pro and C3161G Pro1054Arg may be associated with breast cancer risk. We investigate the breast cancer risk associated with these two nonconservative amino acid substitution variants using a large Australian population-based case–control study.\ud
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<b>Methods</b>\ud
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The polymorphisms were genotyped in more than 1300 cases and 600 controls using 5' exonuclease assays. Case–control analyses and genotype distributions were compared by logistic regression.\ud
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<b>Results</b>\ud
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The 2119C variant was rare, occurring at frequencies of 1.4 and 1.3% in cases and controls, respectively (P = 0.8). There was no difference in genotype distribution between cases and controls (P = 0.8), and the TC genotype was not associated with increased risk of breast cancer (adjusted odds ratio = 1.08, 95% confidence interval = 0.59–1.97, P = 0.8). Similarly, the 3161G variant was no more common in cases than in controls (2.9% versus 2.2%, P = 0.2), there was no difference in genotype distribution between cases and controls (P = 0.1), and the CG genotype was not associated with an increased risk of breast cancer (adjusted odds ratio = 1.30, 95% confidence interval = 0.85–1.98, P = 0.2). This lack of evidence for an association persisted within groups defined by the family history of breast cancer or by age.\ud
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<b>Conclusion</b>\ud
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The 2119C and 3161G amino acid substitution variants are not associated with moderate or high risks of breast cancer in Australian women
Skewed X chromosome inactivation and breast and ovarian cancer status: Evidence for X-linked modifiers of BRCA1
No full textBackgroundX chromosome inactivation, which silences gene expression from one of the two X chromosomes in females, is usually random. Skewed X inactivation has been implicated in both the expression and the suppression of X-linked disease phenotypes and has been reported to occur more frequently in breast and ovarian cancer patients, including BRCA1 or BRCA2 mutation carriers, than in control subjects.MethodsWe assessed the pattern of X chromosome inactivation using methylation-specific polymerase chain reaction amplification of the exon 1 microsatellite region of the X-linked androgen receptor (AR) gene in DNA from blood samples obtained from control subjects without a personal history of breast or ovarian cancer (n = 735), ovarian cancer patients (n = 313), familial breast cancer patients who did not carry mutations in BRCA1 or BRCA2 (n = 235), and affected and unaffected carriers of mutations in BRCA1 (n = 260) or BRCA2 (n = 63). We defined the pattern of X chromosome inactivation as skewed when the same X chromosome was active in at least 90% of cells. The association between skewed X inactivation and disease and/or BRCA mutation status was assessed by logistic regression analysis. The association between skewed X inactivation and age at cancer diagnosis was assessed by Cox proportional hazards regression analysis. All statistical tests were two-sided.ResultsThe age-adjusted frequency of skewed X inactivation was not statistically significantly higher in ovarian cancer or familial breast cancer case subjects compared with control subjects. Skewed X inactivation was higher in BRCA1 mutation carriers than in control subjects (odds ratio [OR] = 2.7, 95% confidence interval [CI] = 1.1 to 6.2; P = .02), particularly among unaffected women (OR = 6.1, 95% CI = 1.5 to 31.8; P = .005). Among BRCA1 mutation carriers, those with skewed X inactivation were older at diagnosis of breast or ovarian cancer than those without skewed X inactivation (hazard ratio [HR] of breast or ovarian cancer = 0.37, 95% CI = 0.14 to 0.95; P = .04). Among BRCA2 mutation carriers, skewed X inactivation also occurred more frequently in unaffected carriers than in those diagnosed with breast or ovarian cancer (OR = 5.2, 95% CI = 0.5 to 28.9; P = .08) and was associated with delayed age at onset (HR = 0.59, 95% CI = 0.37 to 0.94; P = .03).ConclusionsSkewed X inactivation occurs at an increased frequency in BRCA1 (and possibly BRCA2) mutation carriers compared with control subjects and is associated with a statistically significant increase in age at diagnosis of breast and ovarian cancer.Felicity Lose, David L. Duffy, Graham F. Kay, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Australian Ovarian Cancer Study Management Group, Mary A. Kedda, Amanda B. Spurdl
Partner Facilitation and Partner Interference in Individuals' Weight Loss Goals
No full textDrawing on the logic of the relational turbulence model, this study examined the ways in which romantic partners facilitate and interfere with individuals’ weight loss goals. Participants (N = 122) described the ways in which their romantic partner had recently helped or hindered their weight loss at four times over the course of 2 months. We conducted a content analysis of responses to identify themes of partner facilitation (Research Question 1 [RQ1]) and partner interference (RQ2) in individuals’ weight loss goals. Results revealed seven themes of partner facilitation: (a) partner enabling diet, (b) motivation and encouragement, (c) emotional support and positive reinforcement, (d) exercising together, (e) partner enabling exercise, (f) dieting together, and (g) relationship influence and priorities. Four themes of partner interference emerged in the data: (a) inability to plan for healthy meals, (b) inability to control the food environment, (c) preventing or discouraging exercise, and (d) emotional or relational discouragement.Peer reviewe
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