SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WAKA:ref ;pers:(Nilbert Mef)"

Sökning: WAKA:ref > Nilbert Mef

  • Resultat 31-40 av 164
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
31.
  • Dominguez, Mev, et al. (författare)
  • Familial colorectal cancer type X: genetic profiles and phenotypic features.
  • 2015
  • Ingår i: Modern Pathology. - : Elsevier BV. - 1530-0285 .- 0893-3952. ; 28:1, s. 30-36
  • Tidskriftsartikel (refereegranskat)abstract
    • Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, histopathologic features, and the genetic and epigenetic profiles of the familial colorectal cancer type X (FCCTX) syndrome with the aim to delineate tumor characteristics that may contribute to refined diagnostics and optimized tumor prevention.Modern Pathology advance online publication, 18 April 2014; doi:10.1038/modpathol.2014.49.
  •  
32.
  • Dominguez, Mev, et al. (författare)
  • Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.
  • 2014
  • Ingår i: Molecular Genetics & Genomic Medicine. - : Wiley. - 2324-9269. ; 2:4, s. 352-355
  • Tidskriftsartikel (refereegranskat)abstract
    • In clinical genetic diagnostics, it is difficult to predict whether genetic mutations that do not greatly alter the primary sequence of the encoded protein causing unknown functional effects on cognate proteins lead to development of disease. Here, we report the clinical identification of c.2038 T>C missense mutation in exon 18 of the human MLH1 gene and biochemically characterization of the p.Cys680Arg mutant MLH1 protein to implicate it in the pathogenicity of the Lynch syndrome (LS). We show that the mutation is deficient in DNA mismatch repair and, therefore, contributing to LS in the carriers.
  •  
33.
  • Dominguez, Mev, et al. (författare)
  • Mutation spectrum in South American Lynch syndrome families
  • 2013
  • Ingår i: Hereditary Cancer in Clinical Practice. - : Springer Science and Business Media LLC. - 1897-4287. ; 11
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Genetic counselling and testing for Lynch syndrome have recently been introduced in several South American countries, though yet not available in the public health care system. Methods: We compiled data from publications and hereditary cancer registries to characterize the Lynch syndrome mutation spectrum in South America. In total, data from 267 families that fulfilled the Amsterdam criteria and/or the Bethesda guidelines from Argentina, Brazil, Chile, Colombia and Uruguay were included. Results: Disease-predisposing mutations were identified in 37% of the families and affected MLH1 in 60% and MSH2 in 40%. Half of the mutations have not previously been reported and potential founder effects were identified in Brazil and in Colombia. Conclusion: The South American Lynch syndrome mutation spectrum includes multiple new mutations, identifies potential founder effects and is useful for future development of genetic testing in this continent.
  •  
34.
  • Dominguez-Valentin, Mev, et al. (författare)
  • Frequent mismatch-repair defects link prostate cancer to Lynch syndrome
  • 2016
  • Ingår i: BMC Urology. - : Springer Science and Business Media LLC. - 1471-2490. ; 16:1, s. 15-15
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: A possible role for prostate cancer in Lynch syndrome has been debated based on observations of mismatch-repair defective tumors and reports of an increased risk of prostate cancer in mutation carriers. Potential inclusion of prostate cancer in the Lynch syndrome tumor spectrum is relevant for family classification, risk estimates and surveillance recommendations in mutation carriers.METHODS: We used the population-based Danish HNPCC-register to identify all prostate cancers that developed in mutation carriers and in their first-degree relatives from 288 Lynch syndrome families. The tumors were evaluated for clinicopathologic features and mismatch-repair status, and the cumulative risk of prostate cancer was determined.RESULTS: In total, 28 prostate cancers developed in 16 mutation carriers and in 12 first-degree relatives at a median age of 63 years. The majority of the tumors were high-grade tumors with Gleason scores 8-10. Prostate cancer was associated with mutations in MSH2, MLH1 and MSH6 with loss of the respective mismatch repair protein in 69 % of the tumors, though a MSI-high phenotype was restricted to 13 % of the tumors. The cumulative risk of prostate cancer at age 70 was 3.7 % (95 % CI: 2.3-4.9).CONCLUSION: We provide evidence to link prostate cancer to Lynch syndrome through demonstration of MMR defective tumors and an increased risk of the disease, which suggests that prostate cancer should be considered in the diagnostic work-up of Lynch syndrome.
  •  
35.
  • Elomaa, I, et al. (författare)
  • Chemotherapy in Ewing's sarcoma. The Scandinavian Sarcoma Group experience
  • 1999
  • Ingår i: Acta Orthopaedica Scandinavica. Supplementum. - 0300-8827. ; 70:285, s. 69-73
  • Tidskriftsartikel (refereegranskat)abstract
    • During the past 15 years the Scandinavian Sarcoma Group has treated 140 patients with Ewing's sarcoma. Two protocols have been used. SSG IV included 52 patients between 1984 and 1990 and SSG IX, 88 patients since 1990. After 5 years of treatment, local recurrences occurred in 19% of the patients (M0 + M1) in the SSG IV group and 10% in the SSG IX group. Distant metastases developed in 57% of the M0-patients in the SSG IV group and in 33% in the SSG IX group. Tumor-related survival (overall) of M0-patients was 49% in SSG IV and 70% in SSG IX, and the metastasis-free survival rate 45% and 58%, respectively. Patients having a localized extremity tumor had a survival rate of 90% (SSG IX). In both treatment groups, good responders to chemotherapy had a better survival rate than poor ones (SSG IV, p < 0.02, GI-II vs. G II-IV and SSG IX, p < 0.003, GI-III vs. G IV). In conclusions local control and survival rates were better with SSG IX than SSG IV.
  •  
36.
  •  
37.
  •  
38.
  • Engellau, Jacob, et al. (författare)
  • Time dependence of prognostic factors for patients with soft tissue sarcoma : a Scandinavian Sarcoma Group Study of 338 malignant fibrous histiocytomas
  • 2004
  • Ingår i: Cancer. - : Wiley. - 1097-0142 .- 0008-543X. ; 100:10, s. 2233-2239
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Prognostic factors for metastasis in soft tissue sarcoma govern decisions regarding adjuvant treatment. However, the significance of initial tumor-related prognostic factors over time is largely unknown.METHODS: The current study included 338 patients with malignant fibrous histiocytoma (MFH) of the extremities or the trunk wall whose tumors were reviewed by the Scandinavian Sarcoma Pathology Review Group. Of these 338 patients, 329 (97%) had high-grade tumors. The median follow-up period was 7 years. Metastases occurred in 110 of 338 of patients after a median follow-up period of 14 months, with roughly one-third (32 of 110) occurring after 2 years. The authors investigated the prognostic significance of tumor size, tumor depth, histologic grade, microscopic tumor necrosis, vascular invasion, mitotic rate, and local tumor recurrence at various time intervals using metastases as an endpoint.RESULTS: On univariate analysis, all investigated factors were found to be correlated with metastases for the entire follow-up period and also for the first 2 years of follow-up; beyond this time point, only size, tumor depth, and local recurrence were significant. On multivariate analysis, necrosis and local tumor recurrence were significant for the entire follow-up duration and also for the first 2 years of follow-up, whereas only tumor depth and local recurrence were significant beyond 2 years of follow-up. For all initial factors, the annual metastasis risks in the high-risk and low-risk groups converged to < 0.1 after 2 years and to near 0 after 5 years.CONCLUSIONS: Prognostic factors for metastasis in MFH were time dependent. The predictive value of the initial prognostic factors was limited to the first 2 years of follow-up. The lack of observed prognostic value beyond 2 years of follow-up probably was attributable to heterogeneity within risk categories as a result of measurement errors and unknown biologic variations.
  •  
39.
  • Engellau, Jacob, et al. (författare)
  • Tissue microarray technique in soft tissue sarcoma: immunohistochemical Ki-67 expression in malignant fibrous histiocytoma
  • 2001
  • Ingår i: Applied Immunohistochemistry & Molecular Morphology. - 1533-4058. ; 9:4, s. 358-363
  • Tidskriftsartikel (refereegranskat)abstract
    • Malignant fibrous histiocytoma (MFH) represents a heterogeneous soft tissue sarcoma entity. The authors compared different methods to determine immunohistochemical staining in whole tissue sections, evaluated the tissue microarray technique, and assessed immunohistochemical heterogeneity using the proliferation marker Ki-67 in 47 histopathologic tumor blocks from 11 MFHs. Whole tissue sections were assessed counting 400 cells along a line and counting all cells in 10 high-power fields (0.16 mm2) with mean Ki-67 expression levels of 13% and 11%, respectively. For the tissue microarray technique, two to three 0.6-mm diameter biopsies were studied from each of the 47 tumor blocks. Good correlation was obtained between whole tissue immunohistochemistry and tissue microarray with the microarray method, giving on average 8.6% greater Ki-67 expression levels than the reference method. Immunohistochemical tumor heterogeneity, evaluated using the high-power field method, showed a median standard deviation of 2.3% within the tumor blocks and 2.5% between the blocks from the same tumor. The authors concluded that the tissue microarray technique yields good quality staining and expression levels for Ki-67 comparable with whole tissue methods in MFH, but because of tumor heterogeneity, several tumor blocks ideally should be studied and, because of loss of material in the microarray process, multiple biopsies should be taken. The feasibility of tissue microarray for immunohistochemical studies of soft tissue sarcomas offers new possibilities to study multiple markers in large tumor materials.
  •  
40.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 31-40 av 164
Typ av publikation
tidskriftsartikel (161)
forskningsöversikt (2)
konferensbidrag (1)
Typ av innehåll
refereegranskat (164)
Författare/redaktör
Bendahl, Pär Ola (22)
Rydholm, Anders (19)
Borg, Åke (17)
Carlsson, Christina (16)
Jönsson, Mats (14)
visa fler...
Engellau, Jacob (12)
Åkerman, Måns (11)
Malander, Susanne (11)
Bartuma, Katarina (11)
Carneiro, Ana (10)
Fernebro, Josefin (10)
Domanski, Henryk (9)
Lindblom, Annika (8)
Rosell, Linn (8)
Lindblom, A (7)
Wihl, Jessica (7)
Baldetorp, Bo (6)
Måsbäck, Anna (6)
Alvegård, Thor (5)
Planck, Maria (5)
Jönsson, Jenny Maria (5)
Styring, Emelie (5)
Joost, Patrick (5)
Olsson, Håkan (4)
Hedenfalk, Ingrid (4)
Hagberg, Oskar (4)
Rohlin, Anna (4)
Fernebro, Eva (4)
Nilsson, Kerstin, 19 ... (4)
Anderson, Harald (4)
Jönsson, Göran B (4)
Vult von Steyern, Fr ... (4)
Fernö, Mårten (3)
Liedberg, Fredrik (3)
Edén, Patrik (3)
Johansson, Jan (3)
Staaf, Johan (3)
Mitelman, Felix (3)
Ohlsson, Björn (3)
Gustafson, Pelle (3)
Wiebe, Thomas (3)
Lindell, Gert (3)
Lagerstedt-Robinson, ... (3)
Nordling, Margareta, ... (3)
Aravidis, Christos (3)
Kristoffersson, Ulf (3)
Gebre-Medhin, Samuel (3)
Mandahl, Nils (3)
Kinhult, Sara (3)
visa färre...
Lärosäte
Lunds universitet (160)
Karolinska Institutet (20)
Göteborgs universitet (8)
Umeå universitet (4)
Linköpings universitet (1)
Högskolan i Skövde (1)
visa fler...
Högskolan i Borås (1)
visa färre...
Språk
Engelska (162)
Svenska (2)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (162)
Samhällsvetenskap (2)
Naturvetenskap (1)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy