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- Engel, C., et al.
(författare)
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Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers
- 2010
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Ingår i: Cancer Epidemiology, Biomarkers and Prevention. - : American Association for Cancer Research. - 1055-9965 .- 1538-7755. ; 19:11, s. 2859-2868
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Tidskriftsartikel (refereegranskat)abstract
- Background: The genes caspase-8 (CASP8) and caspase-10 (CASP10) functionally cooperate and play a key role in the initiation of apoptosis. Suppression of apoptosis is one of the major mechanisms underlying the origin and progression of cancer. Previous case-control studies have indicated that the polymorphisms CASP8 D302H and CASP10 V410I are associated with a reduced risk of breast cancer in the general population.Methods: To evaluate whether the CASP8 D302H (CASP10 V410I) polymorphisms modify breast or ovarian cancer risk in BRCA1 and BRCA2 mutation carriers, we analyzed 7,353 (7,227) subjects of white European origin provided by 19 (18) study groups that participate in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A weighted cohort approach was used to estimate hazard ratios (HR) and 95% confidence intervals (95% CI).Results: The minor allele of CASP8 D302H was significantly associated with a reduced risk of breast cancer (per-allele HR, 0.85; 95% CI, 0.76-0.97; Ptrend = 0.011) and ovarian cancer (per-allele HR, 0.69; 95% CI, 0.53-0.89; Ptrend = 0.004) for BRCA1 but not for BRCA2 mutation carriers. The CASP10 V410I polymorphism was not associated with breast or ovarian cancer risk for BRCA1 or BRCA2 mutation carriers.Conclusions: CASP8 D302H decreases breast and ovarian cancer risk for BRCA1 mutation carriers but not for BRCA2 mutation carriers.Impact: The combined application of these and other recently identified genetic riskmodifiers could in the future allow better individual risk calculation and could aid in the individualized counseling and decision making with respect to preventive options in BRCA1 mutation carriers.
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| 4. |
- Harris, R, et al.
(författare)
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Genetic education for non-geneticist health professionals
- 2006
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Ingår i: Community Genetics. - : S. Karger AG. - 1422-2795. ; 9:4, s. 224-226
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: It was the aim of this study to assess educational needs and priorities in genetics amongst non-genetic health professionals. Methods: The methods used included website reviews and direct contact with individuals and organisations involved in health professional education. Results and Conclusions: Health professional education and training differed in structure with wide variation in the content and duration of genetics education provided. Evidence from the UK, France and Germany indicates that genetics professionals are influencing the genetics content of medical curricula. In post-graduate training, some specialist regulators have adopted specific genetics education requirements, but many programmes lack any explicit genetics. We show that within each country, a sometimes confusing plethora of organisations has responsibility for setting, assessing and delivering medical and midwifery education.
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| 5. |
- Lövkvist, Håkan, et al.
(författare)
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A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D gene
- 2012
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 20:7, s. 783-789
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Tidskriftsartikel (refereegranskat)abstract
- Previous reports have shown ambiguous findings regarding the possible associations between ischaemic stroke (IS) and single nucleotide polymorphisms (SNPs) in the phosphodiesterase 4D (PDE4D) gene region. The SNP rs12188950 (or SNP45) has often been studied in this context. We performed a multi-centre study involving a large sample of 2599 IS patients and 2093 control subjects from the south and west regions of Sweden to replicate previous studies regarding IS risk and rs12188950. Subjects from Lund Stroke Register (LSR), Malmo Diet and Cancer Study (MDC) and Sahlgrenska Academy Study on Ischemic Stroke (SAHLSIS) were enroled. Subgroups of participants with hypertension and participants <55 years of age, as well as the TOAST subgroups large vessel disease, small vessel disease and cardioembolism, were also assessed. Univariate odds ratios (ORs) and ORs controlling for hypertension, diabetes and current smoking were calculated. We additionally performed a meta-analysis including 10 500 patients and 10 102 control subjects from 17 publications (including the present study). When assessing pooled data from LSR, MDC and SAHLSIS we obtained no association between IS and rs12188950 for all participants (OR=0.93; 95% confidence interval (CI): 0.83-1.05). Significant associations were not found for hypertensive participants or participants with age <55, or when separately evaluating patients from the three different TOAST subgroups. The meta-analysis showed no significant overall estimate (OR=0.96; 95% CI: 0.89-1.04) with significant heterogeneity for random effect (P=0.042). No effect from rs12188950 on IS was found from either our pooled multi-centre data or the performed meta-analysis. We did not find any association between the examined subgroups and rs12188950 either. European Journal of Human Genetics (2012) 20, 783-789; doi: 10.1038/ejhg.2012.4; published online 25 January 2012
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| 6. |
- Henriksson, Karin, et al.
(författare)
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Education in medical genetics for non-genetic health care providers in sweden.
- 2006
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Ingår i: Community Genetics. - : S. Karger AG. - 1422-2795. ; 9:4, s. 240-245
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Tidskriftsartikel (refereegranskat)abstract
- We investigated the content and extent of education in medical/clinical genetics among Swedish universities, university colleges and colleges of health providing undergraduate education for medical doctors and nurses. In addition, selected medical specialist training programmes and programmes for midwifes and district nurses were analysed to detect elements of education or training in medical/clinical genetics. The main results are that, although basic cell biology is taught during the first semesters in all educations, there is little or no genetics taught during the clinical parts of the educational programmes. Moreover, with regard to post-graduate education, it is almost absent. There is a need to improve education and training in genetics for all health care professionals to meet the expected increase in genetic issues in clinical medicine.
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| 8. |
- Calefato, Jean-Marc, et al.
(författare)
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Assessing educational priorities in genetics for general practitioners and specialists in five countries: factor structure of the Genetic-Educational Priorities (Gen-EP) scale
- 2008
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Ingår i: Genetics in Medicine. - 1098-3600. ; 10:2, s. 99-106
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: A scale assessing primary care physicians' priorities for genetic education (The Gen-EP scale) was developed and tested in five European countries. The objective of this study was to determine its factor structure, to test scaling assumptions and to determine internal consistency. Methods: The sample consisted of 3686 practitioners (general practitioners, gyneco-obstetricians, pediatricians) sampled in France, Germany, the Netherlands, Sweden, and United Kingdom. We first determined the factor structure of the Gen-EP scale (30 items) on the whole sample. Scaling assumptions were then tested on each country using multitrait scaling analysis. Internal consistency was assessed across the five countries. Results: Six factors were identified accounting for 63.3% of the variance of the items. They represented the following priorities for genetic education: "Genetics of Common Diseases"; "Ethical, Legal, and Public Health Issues"; "Approaching Genetic Risk Assessment in Clinical Practice"; "Basic Genetics and Congenital Malformations"; "Techniques and Innovation in Genetics" and "Psychosocial and Counseling Issues." In each country, convergent and discriminant validity were satisfactory. Internal-consistency reliability coefficients (Cronbach's alpha) were all above the acceptable threshold (0.70). Conclusion: The Gen-EP scale could be a helpful instrument in different countries to organize and evaluate the impact of genetic educational programs for primary care providers.
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| 9. |
- Hedlund, Maria, et al.
(författare)
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Editorial: Genetics and Democracy
- 2012
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Ingår i: Journal of Community Genetics. - : Springer Science and Business Media LLC. - 1868-6001 .- 1868-310X. ; 3:2, s. 57-59
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Tidskriftsartikel (refereegranskat)
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| 10. |
- Julian-Reynier, Claire, et al.
(författare)
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Genetics in clinical practice: general practitioners' educational priorities in European countries
- 2008
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Ingår i: Genetics in Medicine. - 1098-3600. ; 10:2, s. 107-113
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To assess how general practitioners (GPs) from European countries prioritized their genetic educational needs according to their geographic, sociodemographic, and educational characteristics. Methods: Cross-sectional survey, random and total samples of GPs in five European countries (France, Germany, the Netherlands, Sweden, and United Kingdom), mailed questionnaires; Outcome: Genetic Educational Priority Scale (30 items; six subscores). Results: A total 1168 GPs answered. Priorities differed (P < 0.001) but were consistently ranked across the countries. Previous education had a marginal effect on priorities. Women gave higher priorities than men to Genetics of Common Disorders (adjusted odds ratio [ORadj], 2.5; 95% confidence interval [CI], 1.6-3.8), Psychosocial and Counseling Issues (ORadj, 1.6(adj); 95% CI, 1.1-2.5), and Ethical, Legal, and Public Health Issues (ORadj, 1.3; 95% CI, 1.1-1.8), but lower than men to Techniques and Innovation in Genetics (ORadj, 0.7; 95% CI, 0.5-0.9). Older physicians gave higher priorities to Basic Genetics and Congenital Malformations (ORadj, 1.5; 95% CI, 1.1-1.9), and to Techniques and Innovation in Genetics (ORadj: 1.3; 95% CI, 1.0-1.7), compared with their younger colleagues. Conclusions: Expressed genetic educational needs vary according to the countries and sociodemographics. In accordance, training could be more focused on genetics of common disorders and on how to approach genetic risk in clinical practice rather than on ethics, hew technologies, or basic concepts.
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