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Sökning: WFRF:(von Wachenfeldt Anna)

  • Resultat 11-17 av 17
  • Föregående 1[2]
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  • Kirchhoff, Tomas, et al. (författare)
  • Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2
  • 2012
  • Ingår i: PLoS ONE. - Public Library of Science. - 1932-6203. ; 7:6
  • Tidskriftsartikel (refereegranskat)abstract
    • Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I-2 = 49.3%; p = less than0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95% CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
  • Persdotter, Sofia, et al. (författare)
  • Cooperative inhibitory effects of budesonide and formoterol on eosinophil superoxide production stimulated by bronchial epithelial cell conditioned medium
  • 2007
  • Ingår i: International Archives of Allergy and Immunology. - Karger. - 1423-0097. ; 143:3, s. 201-210
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Improved asthma control by combinations of inhaled glucocorticosteroids (GCs) and long-acting beta(2)-agonists (LABAs) includes a reduced frequency and severity of exacerbations. In view of the association of exacerbations with increased airway inflammation, the question has arisen as to whether LABAs are able to complement the known anti- inflammatory activity of GCs. To address this, we studied the effects of a LABA, formoterol (FORM), and a GC, budesonide (BUD), alone and in combination, on bronchial epithelial cell-mediated eosinophil superoxide production in vitro. Methods: We employed 2 experimental approaches. First, superoxide production by human eosinophils incubated with conditioned medium (CM) from human bronchial epithelial cells cultured for 24 h with vehicle, BUD, FORM or BUD + FORM was measured (Epi/Eos assay). Second, eosinophils were stimulated with vehicle-CM to which the drugs were added (Eos assay). Superoxide production was determined as the superoxide dismutase-inhibitable reduction of ferricytochrome C. Results: CM increased eosinophil superoxide generation (p < 0.01) and epithelial-derived granulocyte macrophage colony-stimulating factor was the mediator responsible. In both assays, FORM dose-dependently inhibited eosinophil superoxide similarly and in the same concentration range as BUD. The BUD + FORM combination was more effective than BUD alone, and it completely inhibited CM-induced superoxide production in the Epi/Eos assay, suggesting complementary effects of both drugs on bronchial epithelial cells and eosinophils. Conclusions: The cooperative, inhibitory effects of BUD and FORM on eosinophils and bronchial epithelial cells, in terms of their effects on eosinophil superoxide production, may represent a possible mechanism for the enhanced anti-inflammatory efficacy of BUD and FORM combination therapy of asthma. Copyright (c) 2007 S. Karger AG, Basel
  • von Wachenfeldt, Anna, et al. (författare)
  • A hypothesis-generating search for new genetic breast cancer syndromes - a national study in 803 Swedish families
  • 2007
  • Ingår i: Hereditary Cancer in Clinical Practice. - Termedia Publishing House. - 1897-4287. ; 5:1, s. 17-24
  • Tidskriftsartikel (refereegranskat)abstract
    • Among Swedish families with an inherited predisposition for breast cancer, less than one third segregate mutations in genes known to be associated with an increased risk of breast cancer in combination with other types of tumours. In a search for new putative familial breast cancer syndromes we studied Swedish families undergoing genetic counselling during 1992-2000. Four thousand families from counselling clinics in Sweden were eligible for study. Families with breast cancer only were excluded, as were families with mutations in genes already known to be associated with malignant diseases. We identified 803 families with two or more cases of breast cancer and at least one other type of cancer. The observed proportion of different types of non-breast cancer was compared with the percentage distribution of non-breast cancer tumours in Sweden in 1958 and 1999. We found tumours in the colon, ovary, endometrium, pancreas and liver, as well as leukaemia in a significantly larger proportion of the study population than in the general population in both years. These tumours were also seen among families where several members had one additional tumour, suggesting that malignancies at these sites, in combination with breast tumours, could constitute genetic syndromes. Endometrial carcinoma has not previously been described in the context of breast cancer syndromes and the excess of malignancies at this site could not be explained by secondary tumours. Thus, we suggest that endometrial carcinoma and breast cancer constitute a new breast cancer syndrome. Further investigation is warranted to categorize phenotypes of both breast and endometrial tumours in this subgroup.
  • Vuorela, Mikko, et al. (författare)
  • Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility.
  • 2011
  • Ingår i: Breast cancer research and treatment. - 1573-7217. ; 130:3, s. 1003-1010
  • Tidskriftsartikel (refereegranskat)abstract
    • RAD51C, a RAD51 paralogue involved in homologous recombination, is a recently established Fanconi anemia and breast cancer predisposing factor. In the initial report, RAD51C mutations were shown to confer a high risk for both breast and ovarian tumors, but most of the replication studies published so far have failed to identify any additional susceptibility alleles. Here, we report a full mutation screening of the RAD51C gene in 147 Finnish familial breast cancer cases and in 232 unselected ovarian cancer cases originating from Finland and Sweden. In addition, in order to resolve whether common RAD51C SNPs are risk factors for breast cancer, we genotyped five tagging single nucleotide polymorphisms, rs12946522, rs304270, rs304283, rs17222691, and rs28363312, all located within the gene, from 993 Finnish breast cancer cases and 871 controls for cancer associated variants. Whereas, none of the studied common SNPs associated with breast cancer susceptibility, mutation analysis revealed two clearly pathogenic alterations. RAD51C c.-13_14del27 was observed in one familial breast cancer case and c.774delT in one unselected ovarian cancer case, thus confirming that RAD51C mutations are implicated in breast and ovarian cancer predisposition, although their overall frequency seems to be low. Independent identification of the very recently reported RAD51C c.774delT mutation in yet another patient originating from Sweden suggests that it might be a recurrent mutation in that population and should be studied further. The reliable estimation of the clinical implications of carrying a defective RAD51C allele still requires the identification of additional mutation positive families.
  • Wachenfeldt, Anna von (författare)
  • Familial Breast Cancer- Risk populations and their surveillance
  • 2011
  • Doktorsavhandling (övrigt vetenskapligt)abstract
    • Women carrying mutations in either BRCA 1 or BRCA2 have a lifetime risk of breast cancer of 80%. As little is known about the risk of other malignancies, apart from ovarian/tubal cancer in mutation carriers, the importance of other malignancies in a family with several cases of breast cancer is hard to evaluate. Women at high risk of breast cancer due to family history are offered genetic counselling and surveillance. Whether women looking for oncogenetic counselling are, in terms of socioeconomic status and health-related quality of life, comparable with women in general is not known. Mammography is a widely used screening method to detect breast cancer and has proven to reduce breast cancer mortality in women older than 50 years. The sensitivity of the method is much lower in women with dense breast and in general young women tend to have denser breast than older women. Most women under surveillance in virtue of family history of breast cancer are younger than 50, thus in a group where mammography alone has not been proved to be effective as a single screening method there is a need for other surveillance methods in women at risk of hereditary breast cancer. We identified 803 BRCA 1/2-negative families with two or more cases of breast cancer and at least one additional malignancy. The observed proportion of different non-breast cancer in the study families was compared with the percentage distribution of non-breast cancer tumours in Sweden. Tumours in endometrium were seen in a significantly larger proportion in the study group than in the general population and could not be explained by previously known syndromes or other explanations for being overrepresented. Thus we suggest that endometrial carcinoma and breast cancer constitute a new breast cancer syndrome. In a cross-sectional study aiming to characterize health-related quality of life and socioeconomic status among all healthy women who had ever visited the Oncogenetic Clinic, Department of Oncology, Södersjukhuset in 1998 – 2004, 306 women consented to participate (82.5%). Significantly more women in the study group were cohabiting (74.2 vs. 43.8%), had the highest education level, (56.7 vs. 39.6%) and had the highest household income (36.9 vs. 12.9 %) as compared to the reference population in the same catchment area. Study subjects reported significantly lower levels of health-related quality of life for subscales related to mental health and for general health compared to normative data, but similar levels on subscales related to physical health. Six-hundred-and-thirty-two women (94%) from one counselling clinic consented to participate in a study aiming to find the most sensitive method to detect breast cancer in women with a familiar risk of the disease. Every woman underwent yearly, and blinded to the other methods, mammography, ultrasound and clinical breast exam. This first report describes the study design and the procedure, and the study cohort regarding hereditary pattern and sociodemographics. Further, the associations between breast density, BMI and other breast-cancer risk factors are elucidated. High breast density was associated with low BMI and young age. However, high density was not associated with increasing risk of breast cancer. Ultrasound and clinical breast examination caused substantially more work-up than MG. The number of detected cancers did not differ from the expected numbers. However, it is too early to draw any conclusion about the sensitivity of the three different modalities..
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