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- Barnes, DR, et al.
(författare)
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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
- 2022
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 1460-2105 .- 0027-8874. ; 114:1, s. 109-122
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundRecent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers.Methods483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)–negative (PRSER-), or ER-positive (PRSER+) breast cancer risk.ResultsPRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions.ConclusionsPopulation-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management.
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| 3. |
- Figlioli, G, et al.
(författare)
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The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
- 2020
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Ingår i: Cancers. - : MDPI AG. - 2072-6694. ; 12:2
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Tidskriftsartikel (refereegranskat)abstract
- Germline protein truncating variants (PTVs) in the FANCM gene have been associated with a 2–4-fold increased breast cancer risk in case-control studies conducted in different European populations. However, the distribution and the frequency of FANCM PTVs in Europe have never been investigated. In the present study, we collected the data of 114 European female breast cancer cases with FANCM PTVs ascertained in 20 centers from 13 European countries. We identified 27 different FANCM PTVs. The p.Gln1701* PTV is the most common PTV in Northern Europe with a maximum frequency in Finland and a lower relative frequency in Southern Europe. On the contrary, p.Arg1931* seems to be the most common PTV in Southern Europe. We also showed that p.Arg658*, the third most common PTV, is more frequent in Central Europe, and p.Gln498Thrfs*7 is probably a founder variant from Lithuania. Of the 23 rare or unique FANCM PTVs, 15 have not been previously reported. We provide here the initial spectrum of FANCM PTVs in European breast cancer cases.
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- Mörtzell Henriksson, Monica, et al.
(författare)
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Adverse events in apheresis : an update of the WAA registry data
- 2016
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Ingår i: Transfusion and apheresis science. - : Elsevier. - 1473-0502 .- 1878-1683. ; 54:1, s. 2-15
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Forskningsöversikt (refereegranskat)abstract
- Apheresis with different procedures and devices are used for a variety of indications that may have different adverse events (AEs). The aim of this study was to clarify the extent and possible reasons of various side effects based on data from a multinational registry. The WAA-apheresis registry data focus on adverse events in a total of 50846 procedures in 7142 patients (42% women). AEs were graded as mild, moderate (need for medication), severe (interruption due to the AE) or death (due to AE). More AEs occurred during the first procedures versus subsequent (8.4 and 5.5%, respectively). AEs were mild in 2.4% (due to access 54%, device 7%, hypotension 15%, tingling 8%), moderate in 3% (tingling 58%, urticaria 15%, hypotension 10%, nausea 3%), and severe in 0.4% of procedures (syncope/hypotension 32%, urticaria 17%, chills/fever 8%, arrhythmia/asystole 4.5%, nausea/vomiting 4%). Hypotension was most common if albumin was used as the replacement fluid, and urticaria when plasma was used. Arrhythmia occurred to similar extents when using plasma or albumin as replacement. In 64% of procedures with bronchospasm, plasma was part of the replacement fluid used. Severe AEs are rare. Although most reactions are mild and moderate, several side effects may be critical for the patient. We present side effects in relation to the procedures and suggest that safety is increased by regular vital sign measurements, cardiac monitoring and by having emergency equipment nearby.
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| 9. |
- Stegmayr, Bernd, et al.
(författare)
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Distribution of indications and procedures within the framework of centers participating in the WAA apheresis registry
- 2017
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Ingår i: Transfusion and apheresis science. - : Elsevier BV. - 1473-0502 .- 1878-1683. ; 56:1, s. 71-74
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Tidskriftsartikel (refereegranskat)abstract
- The WAA apheresis registry was established in 2003 and an increasing number of centers have since then included their experience and data of their procedures. The registry now contains data of more than 74,000 apheresis procedures in more than 10,000 patients. This report shows that the indications for apheresis procedures are changing towards more oncological diagnoses and stem cell collections from patients and donors and less therapeutic apheresis procedures. In centers that continue to register, the total extent of apheresis procedures and patients treated have expanded during the latest years.
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| 11. |
- Haigh, Daisy B., et al.
(författare)
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The METTL3 RNA Methyltransferase Regulates Transcriptional Networks in Prostate Cancer
- 2022
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Ingår i: Cancers. - : MDPI. - 2072-6694. ; 14:20
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Tidskriftsartikel (refereegranskat)abstract
- Prostate cancer (PCa) is a leading cause of cancer-related deaths and is driven by aberrant androgen receptor (AR) signalling. For this reason, androgen deprivation therapies (ADTs) that suppress androgen-induced PCa progression either by preventing androgen biosynthesis or via AR signalling inhibition (ARSi) are common treatments. The N6-methyladenosine (m6A) RNA modification is involved in regulating mRNA expression, translation, and alternative splicing, and through these mechanisms has been implicated in cancer development and progression. RNA-m6A is dynamically regulated by the METTL3 RNA methyltransferase complex and the FTO and ALKBH5 demethylases. While there is evidence supporting a role for aberrant METTL3 in many cancer types, including localised PCa, the wider contribution of METTL3, and by inference m6A, in androgen signalling in PCa remains poorly understood. Therefore, the aim of this study was to investigate the expression of METTL3 in PCa patients and study the clinical and functional relevance of METTL3 in PCa. It was found that METTL3 is aberrantly expressed in PCa patient samples and that siRNA-mediated METTL3 knockdown or METTL3-pharmacological inhibition significantly alters the basal and androgen-regulated transcriptome in PCa, which supports targeting m6A as a novel approach to modulate androgen signalling in PCa.
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| 12. |
- Hallberg, Inger, et al.
(författare)
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Health-related quality of life after osteoporotic fractures
- 2004
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Ingår i: Osteoporosis International. - : Springer Science and Business Media LLC. - 0937-941X .- 1433-2965. ; 15:10, s. 834-841
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To estimate the impact of osteoporosis fractures on health-related quality of life (HRQOL) in postmenopausal women. Methods: To compare the impact on HRQOL of different osteoporotic fractures, 600 consecutive women 55-75 years old with a new fracture (inclusion fracture) were invited by mail. After exclusions by preset criteria (high-energy fractures, ongoing osteoporosis treatment, or unwillingness to participate), 303 women were included, 171 (56%) of whom had a forearm, 37 (12%) proximal humerus, 40 (13%) hip, and 55 (18%) vertebral fracture, respectively, and all were investigated and treated according to the current local consensus program for osteoporosis. In addition, HRQOL was evaluated by the SF-36 questionnaire and compared with local, age-matched reference material. Examinations were performed 82 days (median) after the fracture and 2 years later. Results: HRQOL was significantly reduced at baseline regarding all SF-36 domains after vertebral fractures and most after hip fractures, but only regarding some domains after forearm and humerus fracture. After 2 years, improvements had occurred after all types of fractures, and after forearm or humerus fracture, HRQOL was completely normalized in all domains. However, 2 years after hip fracture, HRQOL was still below normal regarding physical function, role-physical and social function, while after vertebral fracture, scores were still significantly lower for all domains, physical as well as mental. Patients with one or more previous fractures before the inclusion fracture had lower HRQOL at baseline and after 2 years, compared with those with no previous fracture. Patients with osteoporosis (T-score < - 2.5 in hip or spine) had lower HRQOL than those with normal BMD. Conclusion: Vertebral and hip fractures have a considerably greater and more prolonged impact on HRQOL than forearm and humerus fractures. The number of fractures was inversely correlated to HRQOL. These differences should be taken into account when making priorities in health care programs.
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| 15. |
- Lundström, A., et al.
(författare)
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Periodontal conditions in 70-year-old women with osteoporosis
- 2001
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Ingår i: Swedish Dental Journal. - : Sveriges Tandläkarförbund. - 0347-9994. ; 25:3, s. 89-96
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Tidskriftsartikel (refereegranskat)abstract
- The aim of the present study was to examine the periodontal conditions in an age cohort of 70-year-old women and compare an osteoporosis group with a control group with normal bone mineral density. 210 women 70 years old and randomly sampled from the population register of the community of Linköping were examined. Bone mineral density (BMD) of the hip was measured by dual energy X-ray absorptiometry. 19 women were diagnosed with osteoporosis (BMD below 0.640 g/cm2 in total hip). 15 of them accepted to participate in the study. As a control group 21 women with normal bone mineral density (BMD exceeding 0.881 g/cm2) were randomly selected from the initial population. The clinical examination included registration of the number of remaining teeth, dental plaque and periodontal conditions. The radiographic examination included a dental panorama and vertical bite-wing radiographs. The subjects also answered a questionnaire about their general health, age at menopause, concurrent medication, smoking and oral hygiene habits. The results from this study showed no statistically significant differences in gingival bleeding, probing pocket depths, gingival recession and marginal bone level between the women with osteoporosis and the women with normal bone mineral density. In conclusion, the present randomly selected and controlled study of osteoporotic and non-osteoporotic women, showed no statistically significant differences in periodontal conditions or marginal bone level. As periodontitis as well as osteoporosis are associated with age, our study of a well-defined age cohort is of interest, but the results should be interpreted with caution since the compared groups are small.
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| 16. |
- Mellstrom, D, et al.
(författare)
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Osteoporosis, metabolic aberrations, and increased risk for vertebral fractures after partial gastrectomy
- 1993
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Ingår i: Calcified Tissue International. - 1432-0827. ; 53:6, s. 370-377
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Tidskriftsartikel (refereegranskat)abstract
- A case-control study compared 129 men with earlier partial gastrectomy (operation during the period 1952-1961) with 216 men from a community-based population study. All were born 1910-1915 and the mean age was 72 years. Men with a previous partial gastrectomy had vertebral fractures in 19% compared with 4% (P < 0.01) in the control population. Bone mineral density (BMD) in the right calcaneus measured with dual energy photon absorptiometry was 20% lower in men with a Billroth II operation (P < 0.001) and 8% lower with a Billroth I operation (ns). In comparison with the controls, the men subjected to partial gastrectomy had higher serum concentrations of osteocalcin and alkaline phosphatase activity, a lower serum concentration of 25-hydroxyvitamin D (25OHD) and a lower body mass index (BMI). There were no difference in serum concentrations of free calcium, intact parathyroid hormone (PTH), or free thyroxine. The smoking prevalence was significantly higher in men with partial gastrectomy than in controls. Smokers had significantly lower serum concentrations of intact PTH and 25OHD than nonsmokers and also lower BMD and BMI. The relationships between intact PTH on one hand, and ionized calcium (inverse relationship) and osteocalcin (direct relationship) on the other were preserved in smokers, however. Gastroscopy was performed in 78 men with multiple biopsies in the gastric remnant and also in the small intestine. All but two subjects had chronic gastritis. Examination of sternal bone marrow smears showed that 40% of the Billroth-operated men lacked bone marrow reticular iron.(ABSTRACT TRUNCATED AT 250 WORDS)
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