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Sökning: WFRF:(Szabo Annika)

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1.
  • Antoniou, A. C., et al. (författare)
  • Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : Implications for risk prediction
  • 2010
  • Ingår i: Cancer Research. - : American Association for Cancer Research. - 0008-5472 .- 1538-7445. ; 70:23, s. 9742-9754
  • Tidskriftsartikel (refereegranskat)abstract
    • The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10-11 - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers.
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2.
  • Antoniou, A. C., et al. (författare)
  • Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
  • 2009
  • Ingår i: Human Molecular Genetics. - [Antoniou, Antonis C.; McGuffog, Lesley; Peock, Susan; Cook, Margaret; Frost, Debra; Oliver, Clare; Platte, Radka; Pooley, Karen A.; Easton, Douglas F.] Univ Cambridge, Dept Publ Hlth & Primary Care, Canc Res UK Genet Epidemiol Unit, Cambridge, England. [Sinilnikova, Olga M.; Leone, Melanie] Univ Lyon, CNRS, Hosp Civils Lyon,Ctr Leon Berard,UMR5201, Unite Mixte Genet Constitut Canc Frequents, Lyon, France. [Healey, Sue; Spurdle, Amanda B.; Beesley, Jonathan; Chen, Xiaoqing; Chenevix-Trench, Georgia] Queensland Inst Med Res, Brisbane, Qld 4029, Australia. [Nevanlinna, Heli; Heikkinen, Tuomas] Univ Helsinki, Cent Hosp, Dept Obstet & Gynecol, FIN-00290 Helsinki, Finland. [Simard, Jacques] Univ Laval, Quebec City, PQ, Canada. [Simard, Jacques] Univ Quebec, Ctr Hosp, Canada Res Chair Oncogenet, Canc Genom Lab, Quebec City, PQ, Canada. Peter MacCallum Canc Inst, Melbourne, Vic 3002, Australia. [Neuhausen, Susan L.; Ding, Yuan C.] Univ Calif Irvine, Dept Epidemiol, Irvine, CA USA. [Couch, Fergus J.; Wang, Xianshu; Fredericksen, Zachary] Mayo Clin, Rochester, MN USA. [Peterlongo, Paolo; Peissel, Bernard; Radice, Paolo] Fdn IRCCS Ist Nazl Tumori, Milan, Italy. [Peterlongo, Paolo; Radice, Paolo] Fdn Ist FIRC Oncol Molecolare, Milan, Italy. [Bonanni, Bernardo; Bernard, Loris] Ist Europeo Oncol, Milan, Italy. [Viel, Alessandra] IRCCS, Ctr Riferimento Oncol, Aviano, Italy. [Bernard, Loris] Cogentech, Consortium Genom Technol, Milan, Italy. [Szabo, Csilla I.] Mayo Clin, Coll Med, Dept Lab Med & Pathol, Rochester, MN USA. [Foretova, Lenka] Masaryk Mem Canc Inst, Dept Canc Epidemiol & Genet, Brno, Czech Republic. [Zikan, Michal] Charles Univ Prague, Dept Biochem & Expt Oncol, Fac Med 1, Prague, Czech Republic. [Claes, Kathleen] Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium. [Greene, Mark H.; Mai, Phuong L.] US Natl Canc Inst, Clin Genet Branch, Rockville, MD USA. [Rennert, Gad; Lejbkowicz, Flavio] CHS Natl Canc Control Ctr, Haifa, Israel. [Rennert, Gad; Lejbkowicz, Flavio] Carmel Hosp, Dept Community Med & Epidemiol, Haifa, Israel. [Rennert, Gad; Lejbkowicz, Flavio] B Rappaport Fac Med, Haifa, Israel. [Andrulis, Irene L.; Glendon, Gord] Canc Care Ontario, Ontario Canc Genet Network, Toronto, ON M5G 2L7, Canada. [Andrulis, Irene L.] Mt Sinai Hosp, Fred A Litwin Ctr Canc Genet, Samuel Lunenfeld Res Inst, Toronto, ON, Canada. [Andrulis, Irene L.] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada. [Gerdes, Anne-Marie; Thomassen, Mads] Odense Univ Hosp, Dept Biochem Pharmacol & Genet, DK-5000 Odense, Denmark. [Sunde, Lone] Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus, Denmark. [Caligo, Maria A.] Univ Pisa, Div Surg Mol & Ultrastructural Pathol, Dept Oncol, Pisa, Italy. [Caligo, Maria A.] Pisa Univ Hosp, Pisa, Italy. [Laitman, Yael; Kontorovich, Tair; Cohen, Shimrit; Friedman, Eitan] Chaim Sheba Med Ctr, Susanne Levy Gertner Oncogenet Unit, IL-52621 Tel Hashomer, Israel. [Kaufman, Bella] Chaim Sheba Med Ctr, Inst Oncol, IL-52621 Tel Hashomer, Israel. [Kaufman, Bella; Friedman, Eitan] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel. [Dagan, Efrat; Baruch, Ruth Gershoni] Rambam Med Ctr, Genet Inst, Haifa, Israel. [Harbst, Katja] Lund Univ, Dept Oncol, S-22100 Lund, Sweden. [Barbany-Bustinza, Gisela; Rantala, Johanna] Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden. [Ehrencrona, Hans] Uppsala Univ, Dept Genet & Pathol, Uppsala, Sweden. [Karlsson, Per] Sahlgrenska Univ, Dept Oncol, Gothenburg, Sweden. [Domchek, Susan M.; Nathanson, Katherine L.] Univ Penn, Philadelphia, PA 19104 USA. [Osorio, Ana; Benitez, Javier] Ctr Invest Biomed Red Enfermedades Raras CIBERERE, Inst Salud Carlos III, Madrid, Spain. [Osorio, Ana; Benitez, Javier] Spanish Natl Canc Ctr CNIO, Human Canc Genet Programme, Human Genet Grp, Madrid, Spain. [Blanco, Ignacio] Catalan Inst Oncol ICO, Canc Genet Counseling Program, Barcelona, Spain. [Lasa, Adriana] Hosp Santa Creu & Sant Pau, Genet Serv, Barcelona, Spain. [Hamann, Ute] Deutsch Krebsforschungszentrum, Neuenheimer Feld 580 69120, D-6900 Heidelberg, Germany. [Hogervorst, Frans B. L.] Netherlands Canc Inst, Dept Pathol, Family Canc Clin, NL-1066 CX Amsterdam, Netherlands. [Rookus, Matti A.] Netherlands Canc Inst, Dept Epidemiol, Amsterdam, Netherlands. [Collee, J. Margriet] Erasmus Univ, Dept Clin Genet, Rotterdam Family Canc Clin, Med Ctr, NL-3000 DR Rotterdam, Netherlands. [Devilee, Peter] Dept Genet Epidemiol, Leiden, Netherlands. [Wijnen, Juul] Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Leiden, Netherlands. [Ligtenberg, Marjolijn J.] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands. [van der Luijt, Rob B.] Univ Utrecht, Med Ctr, Dept Clin Mol Genet, NL-3508 TC Utrecht, Netherlands. [Aalfs, Cora M.] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands. [Waisfisz, Quinten] Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands. [van Roozendaal, Cornelis E. P.] Univ Med Ctr, Dept Clin Genet, Maastricht, Netherlands. [Evans, D. Gareth; Lalloo, Fiona] Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England. [Eeles, Rosalind] Inst Canc Res, Translat Canc Genet Team, London SW3 6JB, England. [Eeles, Rosalind] Royal Marsden NHS Fdn Trust, London, England. [Izatt, Louise] Guys Hosp, Clin Genet, London SE1 9RT, England. [Davidson, Rosemarie] Ferguson Smith Ctr Clin Genet, Glasgow, Lanark, Scotland. [Chu, Carol] Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England. [Eccles, Diana] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England. [Cole, Trevor] Birmingham Womens Hosp Healthcare, NHS Trust, W Midlands Reg Genet Serv, Birmingham, W Midlands, England. [Hodgson, Shirley] Univ London, Dept Canc Genet, St Georges Hosp, London, England. [Godwin, Andrew K.; Daly, Mary B.] Fox Chase Canc Ctr, Philadelphia, PA 19111 USA. [Stoppa-Lyonnet, Dominique] Univ Paris 05, Paris, France. [Stoppa-Lyonnet, Dominique] Inst Curie, INSERM U509, Serv Genet Oncol, Paris, France. [Buecher, Bruno] Inst Curie, Dept Genet, Paris, France. [Bressac-de Paillerets, Brigitte; Remenieras, Audrey; Lenoir, Gilbert M.] Inst Cancrol Gustave Roussy, Dept Genet, Villejuif, France. [Bressac-de Paillerets, Brigitte] Inst Cancerol Gustave Roussy, INSERM U946, Villejuif, France. [Caron, Olivier] Inst Cancerol Gustave Roussy, Dept Med, Villejuif, France. [Lenoir, Gilbert M.] Inst Cancerol Gustave Roussy, CNRS FRE2939, Villejuif, France. [Sevenet, Nicolas; Longy, Michel] Inst Bergonie, Lab Genet Constitutionnelle, Bordeaux, France. [Longy, Michel] Inst Bergonie, INSERM U916, Bordeaux, France. [Ferrer, Sandra Fert] Hop Hotel Dieu, Ctr Hosp, Lab Genet Chromosom, Chambery, France. [Prieur, Fabienne] CHU St Etienne, Serv Genet Clin Chromosom, St Etienne, France. [Goldgar, David] Univ Utah, Dept Dermatol, Salt Lake City, UT 84112 USA. [Miron, Alexander; Yassin, Yosuf] Dana Farber Canc Inst, Boston, MA 02115 USA. [John, Esther M.] No Calif Canc Ctr, Fremont, CA USA. [John, Esther M.] Stanford Univ, Sch Med, Stanford, CA 94305 USA. [Buys, Saundra S.] Univ Utah, Hlth Sci Ctr, Huntsman Canc Inst, Salt Lake City, UT USA. [Hopper, John L.] Univ Melbourne, Melbourne, Australia. [Terry, Mary Beth] Columbia Univ, New York, NY USA. [Singer, Christian; Gschwantler-Kaulich, Daphne; Staudigl, Christine] Med Univ Vienna, Div Special Gynecol, Dept OB GYN, Vienna, Austria. [Hansen, Thomas V. O.] Univ Copenhagen, Rigshosp, Dept Clin Biochem, DK-2100 Copenhagen, Denmark. [Barkardottir, Rosa Bjork] Landspitali Univ Hosp, Dept Pathol, Reykjavik, Iceland. [Kirchhoff, Tomas; Pal, Prodipto; Kosarin, Kristi; Offit, Kenneth] Mem Sloan Kettering Canc Ctr, Dept Med, Clin Genet Serv, New York, NY 10021 USA. [Piedmonte, Marion] Roswell Pk Canc Inst, GOG Stat & Data Ctr, Buffalo, NY 14263 USA. [Rodriguez, Gustavo C.] Evanston NW Healthcare, NorthShore Univ Hlth Syst, Evanston, IL 60201 USA. [Wakeley, Katie] Tufts Univ, New England Med Ctr, Boston, MA 02111 USA. [Boggess, John F.] Univ N Carolina, Chapel Hill, NC 27599 USA. [Basil, Jack] St Elizabeth Hosp, Edgewood, KY 41017 USA. [Schwartz, Peter E.] Yale Univ, Sch Med, New Haven, CT 06510 USA. [Blank, Stephanie V.] New York Univ, Sch Med, New York, NY 10016 USA. [Toland, Amanda E.] Ohio State Univ, Dept Internal Med, Columbus, OH 43210 USA. [Toland, Amanda E.] Ohio State Univ, Div Human Canc Genet, Ctr Comprehens Canc, Columbus, OH 43210 USA. [Montagna, Marco; Casella, Cinzia] IRCCS, Ist Oncologico Veneto, Immunol & Mol Oncol Unit, Padua, Italy. [Imyanitov, Evgeny N.] NN Petrov Inst Res Inst, St Petersburg, Russia. [Allavena, Anna] Univ Turin, Dept Genet Biol & Biochem, Turin, Italy. [Schmutzler, Rita K.; Versmold, Beatrix; Arnold, Norbert] Univ Cologne, Dept Obstet & Gynaecol, Div Mol Gynaeco Oncol, Cologne, Germany. [Engel, Christoph] Univ Leipzig, Inst Med Informat Stat & Epidemiol, Leipzig, Germany. [Meindl, Alfons] Tech Univ Munich, Dept Obstet & Gynaecol, Munich, Germany. [Ditsch, Nina] Univ Munich, Dept Obstet & Gynecol, Munich, Germany. Univ Schleswig Holstein, Dept Obstet & Gynaecol, Campus Kiel, Germany. [Niederacher, Dieter] Univ Duesseldorf, Dept Obstet & Gynaecol, Mol Genet Lab, Dusseldorf, Germany. [Deissler, Helmut] Univ Ulm, Dept Obstet & Gynaecol, Ulm, Germany. [Fiebig, Britta] Univ Regensburg, Inst Human Genet, Regensburg, Germany. [Suttner, Christian] Univ Heidelberg, Inst Human Genet, Heidelberg, Germany. [Schoenbuchner, Ines] Univ Wurzburg, Inst Human Genet, D-8700 Wurzburg, Germany. [Gadzicki, Dorothea] Med Univ, Inst Cellular & Mol Pathol, Hannover, Germany. [Caldes, Trinidad; de la Hoya, Miguel] Hosp Clinico San Carlos 28040, Madrid, Spain. : Oxford University Press. - 0964-6906 .- 1460-2083. ; 18:22, s. 4442-4456
  • Tidskriftsartikel (refereegranskat)abstract
    • Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased breast cancer risks in the general population. In a previous study, we demonstrated that the minor alleles at three of these SNPs, in FGFR2, TNRC9 and MAP3K1, also confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. Three additional SNPs rs3817198 at LSP1, rs13387042 at 2q35 and rs13281615 at 8q24 have since been reported to be associated with breast cancer in the general population, and in this study we evaluated their association with breast cancer risk in 9442 BRCA1 and 5665 BRCA2 mutation carriers from 33 study centres. The minor allele of rs3817198 was associated with increased breast cancer risk only for BRCA2 mutation carriers [hazard ratio (HR) = 1.16, 95% CI: 1.07-1.25, P-trend = 2.8 × 10-4]. The best fit for the association of SNP rs13387042 at 2q35 with breast cancer risk was a dominant model for both BRCA1 and BRCA2 mutation carriers (BRCA1: HR = 1.14, 95% CI: 1.04-1.25, P = 0.0047; BRCA2: HR = 1.18 95% CI: 1.04-1.33, P = 0.0079). SNP rs13281615 at 8q24 was not associated with breast cancer for either BRCA1 or BRCA2 mutation carriers, but the estimated association for BRCA2 mutation carriers (per-allele HR = 1.06, 95% CI: 0.98-1.14) was consistent with odds ratio estimates derived from population-based case-control studies. The LSP1 and 2q35 SNPs appear to interact multiplicatively on breast cancer risk for BRCA2 mutation carriers. There was no evidence that the associations vary by mutation type depending on whether the mutated protein is predicted to be stable or not. 
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3.
  • Engel, C., et al. (författare)
  • Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers
  • 2010
  • Ingår i: Cancer Epidemiology, Biomarkers and Prevention. - : American Association for Cancer Research. - 1055-9965 .- 1538-7755. ; 19:11, s. 2859-2868
  • 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.
  • Osorio, A., et al. (författare)
  • Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2 (CIMBA)
  • 2009
  • Ingår i: British Journal of Cancer. - : Nature Publishing Group. - 0007-0920 .- 1532-1827. ; 101:12, s. 2048-2054
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers. Methods: We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach. Results: We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P0.5) mutation carriers. Conclusion: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.
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5.
  • Couch, Fergus J., et al. (författare)
  • Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
  • 2016
  • Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 7:11375, s. 1-13
  • Tidskriftsartikel (refereegranskat)abstract
    • Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.
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6.
  • Lohmander, A., et al. (författare)
  • Students take charge of Learning–Using e-learning in Perceptual Assessment in Speech–Language Pathology
  • 2020
  • Ingår i: Scandinavian Journal of Educational Research. - : Routledge. - 0031-3831 .- 1470-1170.
  • Tidskriftsartikel (refereegranskat)abstract
    • Perceptual assessment is the basis for diagnosis and evaluation of treatment in speech–language pathology (SLP). Students need to practise assessment skills. A web-based platform with cases and expert feedback in cleft palate disorders was developed in national collaboration. The aim of the study was to evaluate the results of individual training on assessment skills in SLP students and their perception of e-learning. Forty-five students performed tests using a pre- and post-test set-up. Perceptual assessments were demonstrated and instructions provided during teacher-led activities in ongoing fully scheduled courses; students were then individually trained in their free time. Reference samples were available. A significant improvement was found in rating and phonetic transcriptions after training. Positive comments concerned accessibility and practice time.
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7.
  • Shattuck Eidens, Donna, et al. (författare)
  • A Collaborative Survey of 80 Mutations in the BRCA1 Breast and Ovarian Cancer Susceptibility Gene : Implications for Presymptomatic Testing and Screening
  • 1995
  • Ingår i: JAMA: The Journal of the American Medical Association. - : American Medical Association (AMA). - 0098-7484. ; 273:7, s. 535-541
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVES:To report the initial experience of an international group of investigators in identifying mutations in the BRCA1 breast and ovarian cancer susceptibility gene, to assess the spectrum of such mutations in samples from patients with different family histories of cancer, and to determine the frequency of recurrent mutations.DESIGN:Nine laboratories in North America and the United Kingdom tested for BRCA1 mutations in DNA samples obtained from a total of 372 unrelated patients with breast or ovarian cancer largely chosen from high-risk families. Three of these laboratories also analyzed a total of 714 additional samples from breast or ovarian cancer cases, including 557 unselected for family history, for two specific mutations that had been found to recur in familial samples.PARTICIPANTS:A total of 1086 women with either breast or ovarian cancer.MAIN OUTCOME MEASURE:The detection of sequence variation in patients' DNA samples that is not found in sets of control samples.RESULTS:BRCA1 mutations have now been identified in a total of 80 patient samples. Thirty-eight distinct mutations were found among 63 mutations identified through a complete screen of the BRCA1 gene. Three specific mutations appeared relatively common, occurring eight, seven, and five times, respectively. When specific tests for the two most common mutations were performed in larger sets of samples, they were found in 17 additional patients. Mutations predicted to result in a truncated protein accounted for 86% of the mutations detected by complete screening.CONCLUSIONS:The high frequency of protein-terminating mutations and the observation of many recurrent mutations found in a diverse set of samples could lead to a relatively simple diagnostic test for BRCA1 mutations. More data must be accumulated to address specifically the sensitivity and specificity of such a diagnostic testing procedure and to better estimate the age-specific risk for breast and ovarian cancer associated with such mutations.
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8.
  • Szabo, Annika, 1972-, et al. (författare)
  • A voice accumulator device : evaluation based on studio and field recordings.
  • 2001
  • Ingår i: Logopedics, Phoniatrics, Vocology. - : Informa UK Limited. - 1401-5439 .- 1651-2022. ; 26:3, s. 102-117
  • Tidskriftsartikel (refereegranskat)abstract
    • A voice accumulator is a portable device for long-term measurements of voice use in natural conditions. A contact microphone attached to the front part of the neck registers vocal fold vibrations. The purposes of the present study were: 1) to evaluate the voice accumulator's two measuring programs optimized for registration of fundamental frequency (F0) and phonation time, respectively; and 2) to test the voice accumulator for field recordings. Four healthy subjects were recorded in a sound-proof booth simultaneously with one contact microphone into a voice accumulator and one contact microphone into a computer. In terms of F0 and phonation time, the results showed that correlations between the voice accumulator's two measuring programs and a signal-processing program were high (r > or = 0.85) for all subjects but one. The inter-subject variability was large. A prerequisite for reliable vocal fold vibration detection by the voice accumulator was a careful placement and a firm attachment of the contact microphone on the neck. Four subjects were recorded with the voice accumulator during a working day. It was concluded that the voice accumulator is an overall good instrument for measurements of F0 and phonation time, and thus is useful for both clinical work and research.
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9.
  • Szabo, Annika, 1972-, et al. (författare)
  • Methods to study pre-school teachers' voice at work : simultaneous recordings with a voice accumulator and a DAT recorder
  • 2003
  • Ingår i: Logopedics, Phoniatrics, Vocology. - : Informa UK Limited. - 1401-5439 .- 1651-2022. ; 28:1, s. 29-39
  • Tidskriftsartikel (refereegranskat)abstract
    • Long-term recordings with reliable methods are desirable for objective documentation of voice use during natural conditions. The purpose of this study was to evaluate a voice accumulator (VAC) with a digital audiotape (DAT) recorder as a reference. The VAC is based on a microprocessor that accumulates information about fundamental frequency (F0) and phonation time. A contact microphone attached to the front of the neck registers vocal fold vibrations. The DAT recorder was connected to two microphones for airborne signals placed at equal distance from the mouth close to the subject's ears. The computer program Aura was used to separate the subject's voice from the background noise. The Soundswell program was used for F0 and phonation time analysis. Two tests were performed: 1) One female speech-language pathologist was recorded with the two devices simultaneously in a sound-proof booth. She read a standard text with different voice qualities and sustained vowels with increasing F0 and intensity separately. The results showed good agreement between the two methods with respect to F0 and phonation time. However, the VAC failed to register high frequencies above around 440 Hz as well as low intensities. 2) Three female pre-school teachers were recorded with the two devices simultaneously during a working day. Results showed high correlations between the two methods in terms of long-term measurements of F0 and phonation time for two subjects For one subject with subcutaneous soft tissue on the neck, the registration with the contact microphone was not reliable. It was concluded that the VAC has potential for assessment of occupational voice disorders if certain limitations of the method are considered.
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10.
  • Szabo, Annika, 1972-, et al. (författare)
  • Speaking fundamental frequency and phonation time during work and leisure time in vocally healthy preschool teachers measured with a voice accumulator
  • 2013
  • Ingår i: Folia Phoniatrica et Logopaedica. - : S. Karger. - 1021-7762 .- 1421-9972. ; 65:2, s. 84-90
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVE: More knowledge is needed about preschool teachers' voice use to identify voice behaviours related to work demands that increase the risk for vocal dysfunction. The purpose of this study was to: (1) determine if speaking fundamental frequency (F0) and phonation time differ between work and leisure time and (2) describe variation in F0 and phonation time across the workday in preschool teachers with healthy voices.METHODS: A portable voice accumulator was used to collect data on F0 and phonation time. Twelve vocally healthy female preschool teachers participated in recordings during both work and leisure time for 2 successive days. Their mean age was 35 years (range 21-53 years).RESULTS: Mean F0 was high during the working day (266 Hz) and decreased significantly after work (p < 0.0001). F0 was high also during leisure time (246 Hz) as compared to reference F0 values for Swedish females based on laboratory recordings. Phonation time at work varied widely among the participants, with an average of 12.0%, and decreased significantly to 5.5% during leisure time (p < 0.0001). Most participants had few opportunities for voice rest during work.CONCLUSION: Swedish preschool teachers use high levels of F0 and phonation time during work compared to leisure time indicating high vocal load caused by work. To clarify the role of daily voice use in the causation of vocal dysfunction in this profession, recordings over several days are needed. In addition to F0 and phonation time, recordings of voice sound pressure level and background noise level seem important.
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11.
  • Szabo, Annika, 1972-, et al. (författare)
  • Vocal Behavior in Environmental Noise : Comparisons Between Work and Leisure Conditions in Women With Work-related Voice Disorders and Matched Controls
  • 2018
  • Ingår i: Journal of Voice. - : Elsevier. - 0892-1997 .- 1873-4588. ; 32:1, s. 126.e23-126.e38
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives: This study aimed to assess vocal behavior in women with voice-intensive occupations to investigate differences between patients and controls and between work and leisure conditions with environmental noise level as an experimental factor. Methods: Patients with work-related voice disorders, 10 with phonasthenia and 10 with vocal nodules, were matched regarding age, profession, and workplace with 20 vocally healthy colleagues. The sound pressure level of environmental noise and the speakers’ voice, fundamental frequency, and phonation ratio were registered from morning to night during 1 week with a voice accumulator. Voice data were assessed in low (≀55 dBA), moderate, and high (\textgreater70 dBA) environmental noise levels. Results: The average environmental noise level was significantly higher during the work condition for patients with vocal nodules (73.9 dBA) and their controls (73.0 dBA) compared with patients with phonasthenia (68.3 dBA) and their controls (67.1 dBA). The average voice level and the fundamental frequency were also significantly higher during work for the patients with vocal nodules and their controls. During the leisure condition, there were no significant differences in average noise and voice level nor fundamental frequency between the groups. The patients with vocal nodules and their controls spent significantly more time and used their voices significantly more in high–environmental noise levels. Conclusions: High noise levels during work and demands from the occupation impact vocal behavior. Thus, assessment of voice ergonomics should be part of the work environmental management. To reduce environmental noise levels is important to improve voice ergonomic conditions in communication-intensive and vocally demanding workplaces.
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12.
  • Szabo Portela, Annika (författare)
  • The female voice in vocally demanding professions : field studies using portable voice accumulators
  • 2017
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • Objectives: Methods to register voice use outside the voice clinic, at work, are important for assessment of work-related voice disorders. Such methods must be reliable and valid and at the same time practical and easy to handle. The overall aim of this thesis was to evaluate portable devices for long-term voice registrations and to assess voice use at work in women with vocally-demanding professions. Materials and methods: In Study I a voice accumulator, with two different software, was evaluated regarding speaking fundamental frequency and phonation time, with reference to simultaneous studio recordings. The voice accumulator was also tested in field condition. Participants were two vocally healthy women and two vocally healthy men in both the studio and the field conditions. In Study II, the same device was tested in studio condition where one female participant simulated different voice qualities. In addition, the device was compared to simultaneous DAT recordings in field condition. Participants were three vocally healthy female preschool teachers. In Study III, the same type of voice accumulator was used to collect voice data from 12 vocally healthy female preschool teachers during two days to compare data between work and leisure. In Studies IV and V a more advanced device was used that could measure the sound pressure levels of the speaker’s voice and the environmental noise, in addition to fundamental frequency and phonation ratio. Forty women, 20 with work-related voice disorders and 20 vocally healthy controls, matched for workplace and profession, were monitored during seven days. Data comprised approximately 95 hours for each participant, categorized into work and leisure based on information from diaries. Data was analyzed with environmental noise as the experimental factor, using the device’s software program and MATLAB. The participants also rated estimated speaking time, voice symptoms and perceived disturbing noise four times a day during the week using Visual Analogue Scales. A total of 4,480 data points were collected, the response rate was 96%. Results: Study I stressed the importance of careful placement and firm attachment of the contact microphone to the speaker’s neck for reliable detection of vocal fold vibrations. If so, the agreement between the voice accumulator’s two software and the reference studio recording was good. Field recordings indicated an activity dependent phonation time. Study II found that the voice accumulator measured fundamental frequency and phonation time reliably for different voice qualities, except for creaky voice. It also failed to register phonation at frequencies above 440 Hz as well as phonation at low sound pressure levels. Study III showed that preschool teachers used higher average fundamental frequency and phonation time during work as compared to leisure time, indicating high vocal load caused by the activities at work. Results from Study IV confirmed the finding in Study III that phonation ratio was higher during work than during leisure. When comparing results between patients and controls no significant differences were found for fundamental frequency, phonation ratio or voice level. However, significant differences were found between the patient groups; the patients with vocal nodules and their controls were exposed to significantly higher levels of environmental noise, they spoke more and louder, and used higher fundamental frequency than the patients with phonasthenia and their controls, in the work condition. Study V showed that the patients rated vocal fatigue and hoarseness as significantly higher than did the controls, as expected. The average ratings increased during the workday and remained high in the evening. A majority of the participants (32 of 40) showed significant correlations between self-rated speaking time and phonation ratio. The patients with vocal nodules and their controls rated the levels of disturbing noise as significantly higher compared to the patients with phonasthenia and their controls during workdays, which was in agreement with the instrumental measurements of the environmental noise levels. Conclusions: The portable devices used in the present thesis were found to be useful for longtime measurements of voice use, although all had their limitations. There were no significant differences in voice use between patients and their matched controls at work, suggesting that the occupational demands and the work environment have a greater impact on vocal behaviour than individual factors. The average environmental noise reached levels that were clearly detrimental to speech communication. Therefore, a reduction of environmental noise levels seems crucial for improving the ergonomic conditions in communication-intensive and vocally-demanding workplaces. Since subjective ratings and instrumental measures had similar patterns during the week, it seems that patients and vocally healthy controls have a quite accurate perception of how much they talk and of the disturbing environmental noise. Thus, self-ratings are useful to collect, if this is done in a structured way. The difficulties encountered in long-term accumulation of data from dysphonic voices, for example at extraction and averaging of fundamental frequency of irregular vocal fold vibrations, have to be acknowledged, as does the balance between the methods’ accuracy of measurements and the need to be user-friendly.
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13.
  • Södersten, M., et al. (författare)
  • Vocal behavior and vocal loading factors for preschool teachers at work studied with binaural DAT recordings
  • 2002
  • Ingår i: Journal of Voice. - : Mosby. - 0892-1997 .- 1873-4588. ; 16:3, s. 356-371
  • Tidskriftsartikel (refereegranskat)abstract
    • Preschool teachers are at risk for developing voice problems such as vocal fatigue and vocal nodules. The purpose of this report was to study preschool teachers' voice use during work. Ten healthy female preschool teachers working at daycare centers (DCC) served as subjects. A binaural recording technique was used. Two microphones were placed on both sides of the subject's head, at equal distance from the mouth, and a portable DAT recorder was attached to the subject's waist. Recordings were made of a standard reading passage before work (baseline) and of spontaneous speech during work. The recording technique allowed separate analyses of the level of the background noise, and of the subjects' voice sound pressure level, mean fundamental frequency, and total phonation time. Among the results, mean background noise level for the ten DCCs was 76.1 dBA (range 73.0-78.2), which is more than 20 dB higher than what is recommended where speech communication is important (50-55 dBA). The subjects spoke on an average of 9.1 dB louder (p < 0.0001), and with higher mean fundamental frequency (247 Hz) during work as compared to the baseline (202 Hz) (p < 0.0001). Mean phonation time for the group was 17%, which was considered high. It was concluded that preschool teachers do have a highly vocally demanding profession. Important steps to reduce the vocal loading for this occupation would be to decrease the background noise levels and include pauses so that preschool teachers can rest their voices.
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14.
  •  
15.
  • Zeng, Chenjie, et al. (författare)
  • Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus
  • 2016
  • Ingår i: Breast Cancer Research. - : Springer Science and Business Media LLC. - 1465-5411 .- 1465-542X. ; 18
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. Method: We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 imputed genetic variants in 48,155 cases and 43,612 controls of European descent, 6269 cases and 6624 controls of East Asian descent and 1116 cases and 932 controls of African descent in the Breast Cancer Association Consortium (BCAC; http://bcac.ccge.medschl.cam.ac.uk/), and in 15,252 BRCA1 mutation carriers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Stepwise regression analyses were performed to identify independent association signals. Data from the Encyclopedia of DNA Elements project (ENCODE) and the Cancer Genome Atlas (TCGA) were used for functional annotation. Results: Analysis of data from European descendants found evidence for four independent association signals at 12p11, represented by rs7297051 (odds ratio (OR) = 1.09, 95 % confidence interval (CI) = 1.06-1.12; P = 3 x 10(-9)), rs805510 (OR = 1.08, 95 % CI = 1.04-1.12, P = 2 x 10(-5)), and rs1871152 (OR = 1.04, 95 % CI = 1.02-1.06; P = 2 x 10(-4)) identified in the general populations, and rs113824616 (P = 7 x 10(-5)) identified in the meta-analysis of BCAC ER-negative cases and BRCA1 mutation carriers. SNPs rs7297051, rs805510 and rs113824616 were also associated with breast cancer risk at P < 0.05 in East Asians, but none of the associations were statistically significant in African descendants. Multiple candidate functional variants are located in putative enhancer sequences. Chromatin interaction data suggested that PTHLH was the likely target gene of these enhancers. Of the six variants with the strongest evidence of potential functionality, rs11049453 was statistically significantly associated with the expression of PTHLH and its nearby gene CCDC91 at P < 0.05. Conclusion: This study identified four independent association signals at 12p11 and revealed potentially functional variants, providing additional insights into the underlying biological mechanism(s) for the association observed between variants at 12p11 and breast cancer risk.
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