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Items: 1 to 50 of 193

1.

A stroke gene panel for whole-exome sequencing.

Ilinca A, Samuelsson S, Piccinelli P, Soller M, Kristoffersson U, Lindgren AG.

Eur J Hum Genet. 2019 Feb;27(2):317-324. doi: 10.1038/s41431-018-0274-4. Epub 2018 Oct 24.

PMID:
30356112
3.

From Mendel to Medical Genetics.

Kristoffersson U, Macek M.

Eur J Hum Genet. 2017 Dec;25(s2):S53-S59. doi: 10.1038/ejhg.2017.157. No abstract available.

4.

Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer.

Augustinsson A, Ellberg C, Kristoffersson U, Borg Å, Olsson H.

Acta Oncol. 2018 May;57(5):595-603. doi: 10.1080/0284186X.2017.1404635. Epub 2017 Nov 22.

PMID:
29164969
5.

BRCAsearch: written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer.

Nilsson MP, Törngren T, Henriksson K, Kristoffersson U, Kvist A, Silfverberg B, Borg Å, Loman N.

Breast Cancer Res Treat. 2018 Feb;168(1):117-126. doi: 10.1007/s10549-017-4584-y. Epub 2017 Nov 21.

6.

Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study: experiences from re-contacting mutation carriers and relatives.

Nilsson MP, Emmertz M, Kristoffersson U, Borg Å, Larsson C, Rehn M, Winter C, Saal LH, Brandberg Y, Loman N.

J Community Genet. 2018 Jul;9(3):201-208. doi: 10.1007/s12687-017-0341-5. Epub 2017 Oct 30.

7.

Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer.

Nilsson MP, Winter C, Kristoffersson U, Rehn M, Larsson C, Saal LH, Loman N.

Fam Cancer. 2017 Apr;16(2):187-193. doi: 10.1007/s10689-016-9953-x.

8.

Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic.

Winter C, Nilsson MP, Olsson E, George AM, Chen Y, Kvist A, Törngren T, Vallon-Christersson J, Hegardt C, Häkkinen J, Jönsson G, Grabau D, Malmberg M, Kristoffersson U, Rehn M, Gruvberger-Saal SK, Larsson C, Borg Å, Loman N, Saal LH.

Ann Oncol. 2016 Aug;27(8):1532-8. doi: 10.1093/annonc/mdw209. Epub 2016 May 18.

9.

Familial aggregation of stroke amongst young patients in Lund Stroke Register.

Ilinca A, Kristoffersson U, Soller M, Lindgren AG.

Eur J Neurol. 2016 Feb;23(2):401-7. doi: 10.1111/ene.12881. Epub 2015 Oct 25.

PMID:
26499090
10.

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.

Severin F, Borry P, Cornel MC, Daniels N, Fellmann F, Victoria Hodgson S, Howard HC, John J, Kääriäinen H, Kayserili H, Kent A, Koerber F, Kristoffersson U, Kroese M, Lewis C, Marckmann G, Meyer P, Pfeufer A, Schmidtke J, Skirton H, Tranebjærg L, Rogowski WH; EuroGentest and ESHG/PPPC Priority Consortium.

Eur J Hum Genet. 2015 Jun;23(6):729-35. doi: 10.1038/ejhg.2014.190. Epub 2014 Sep 24.

11.

High risk of in-breast tumor recurrence after BRCA1/2-associated breast cancer.

Nilsson MP, Hartman L, Kristoffersson U, Johannsson OT, Borg A, Henriksson K, Lanke E, Olsson H, Loman N.

Breast Cancer Res Treat. 2014 Oct;147(3):571-8. doi: 10.1007/s10549-014-3115-3. Epub 2014 Sep 4.

12.

Developing a framework for implementation of genetic services: learning from examples of testing for monogenic forms of common diseases.

Rigter T, Henneman L, Broerse JE, Shepherd M, Blanco I, Kristoffersson U, Cornel MC.

J Community Genet. 2014 Oct;5(4):337-47. doi: 10.1007/s12687-014-0189-x. Epub 2014 Jun 4.

13.

Long-term prognosis of early-onset breast cancer in a population-based cohort with a known BRCA1/2 mutation status.

Nilsson MP, Hartman L, Idvall I, Kristoffersson U, Johannsson OT, Loman N.

Breast Cancer Res Treat. 2014 Feb;144(1):133-42. doi: 10.1007/s10549-014-2842-9. Epub 2014 Jan 30.

14.

Health needs assessment for medical genetic services for congenital disorders in middle- and low-income nations.

Christianson A, Zimmern R, Kristoffersson U, Schmidtke J, Kent A, Raouf R, Barreiro C, Nippert I.

J Community Genet. 2013 Jul;4(3):297-308. doi: 10.1007/s12687-013-0150-4. Epub 2013 Jun 23.

15.

Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics.

Rigter T, Henneman L, Kristoffersson U, Hall A, Yntema HG, Borry P, Tönnies H, Waisfisz Q, Elting MW, Dondorp WJ, Cornel MC.

Hum Mutat. 2013 Oct;34(10):1322-8. doi: 10.1002/humu.22370. Epub 2013 Jul 16. Review.

16.

Are 25 SNPs from the CARDIoGRAM study associated with ischaemic stroke?

Lövkvist H, Sjögren M, Höglund P, Engström G, Jern C, Olsson S, Smith JG, Hedblad B, Andsberg G, Delavaran H, Jood K, Kristoffersson U, Norrving B, Melander O, Lindgren A.

Eur J Neurol. 2013 Sep;20(9):1284-91. doi: 10.1111/ene.12183. Epub 2013 Apr 30.

PMID:
23631657
17.

Genetics and democracy-what is the issue?

Hagen N, Hedlund M, Lundin S, Mulinari S, Kristoffersson U.

J Community Genet. 2013 Apr;4(2):181-8. doi: 10.1007/s12687-012-0109-x. Epub 2012 Jul 25.

18.

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.

Ding YC, McGuffog L, Healey S, Friedman E, Laitman Y, Paluch-Shimon S, Kaufman B; SWE-BRCA, Liljegren A, Lindblom A, Olsson H, Kristoffersson U, Stenmark-Askmalm M, Melin B, Domchek SM, Nathanson KL, Rebbeck TR, Jakubowska A, Lubinski J, Jaworska K, Durda K, Gronwald J, Huzarski T, Cybulski C, Byrski T, Osorio A, Cajal TR, Stavropoulou AV, Benítez J, Hamann U; HEBON, Rookus M, Aalfs CM, de Lange JL, Meijers-Heijboer HE, Oosterwijk JC, van Asperen CJ, Gómez García EB, Hoogerbrugge N, Jager A, van der Luijt RB; EMBRACE, Easton DF, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Izatt L, Eeles R, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Tischkowitz M, Godwin AK, Pathak H; GEMO Study Collaborators, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Barjhoux L, Léoné M, Gauthier-Villars M, Caux-Moncoutier V, de Pauw A, Hardouin A, Berthet P, Dreyfus H, Ferrer SF, Collonge-Rame MA, Sokolowska J, Buys S, Daly M, Miron A, Terry MB, Chung W, John EM, Southey M, Goldgar D, Singer CF, Tea MK, Gschwantler-Kaulich D, Fink-Retter A, Hansen TV, Ejlertsen B, Johannsson OT, Offit K, Sarrel K, Gaudet MM, Vijai J, Robson M, Piedmonte MR, Andrews L, Cohn D, DeMars LR, DiSilvestro P, Rodriguez G, Toland AE, Montagna M, Agata S, Imyanitov E, Isaacs C, Janavicius R, Lazaro C, Blanco I, Ramus SJ, Sucheston L, Karlan BY, Gross J, Ganz PA, Beattie MS, Schmutzler RK, Wappenschmidt B, Meindl A, Arnold N, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Nevanlinna H, Aittomäki K, Simard J; KConFab Investigators, Spurdle AB, Beesley J, Chen X, Tomlinson GE, Weitzel J, Garber JE, Olopade OI, Rubinstein WS, Tung N, Blum JL, Narod SA, Brummel S, Gillen DL, Lindor N, Fredericksen Z, Pankratz VS, Couch FJ, Radice P, Peterlongo P, Greene MH, Loud JT, Mai PL, Andrulis IL, Glendon G, Ozcelik H; OCGN, Gerdes AM, Thomassen M, Jensen UB, Skytte AB, Caligo MA, Lee A, Chenevix-Trench G, Antoniou AC, Neuhausen SL; Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Cancer Epidemiol Biomarkers Prev. 2012 Aug;21(8):1362-70. Epub 2012 Jun 22. Erratum in: Cancer Epidemiol Biomarkers Prev. 2012 Dec;21(12):2278.

19.

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study.

Jakubowska A, Rozkrut D, Antoniou A, Hamann U, Scott RJ, McGuffog L, Healy S, Sinilnikova OM, Rennert G, Lejbkowicz F, Flugelman A, Andrulis IL, Glendon G, Ozcelik H; OCGN, Thomassen M, Paligo M, Aretini P; SWE-BRCA, Kantala J, Aroer B, von Wachenfeldt A, Liljegren A, Loman N, Herbst K, Kristoffersson U, Rosenquist R, Karlsson P, Stenmark-Askmalm M, Melin B, Nathanson KL, Domchek SM, Byrski T, Huzarski T, Gronwald J, Menkiszak J, Cybulski C, Serrano P, Osorio A, Cajal TR, Tsitlaidou M, Benítez J, Gilbert M; HEBON, Rookus M, Aalfs CM, Kluijt I, Boessenkool-Pape JL, Meijers-Heijboer HE, Oosterwijk JC, van Asperen CJ, Blok MJ, Nelen MR, van den Ouweland AM, Seynaeve C, van der Luijt RB, Devilee P; EMBRACE, Easton DF, Peock S, Frost D, Platte R, Ellis SD, Fineberg E, Evans DG, Lalloo F, Eeles R, Jacobs C, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Godwin A, Bove B; GEMO Study Collaborators, Stoppa-Lyonnet D, Caux-Moncoutier V, Belotti M, Tirapo C, Mazoyer S, Barjhoux L, Boutry-Kryza N, Pujol P, Coupier I, Peyrat JP, Vennin P, Muller D, Fricker JP, Venat-Bouvet L, Johannsson OT, Isaacs C, Schmutzler R, Wappenschmidt B, Meindl A, Arnold N, Varon-Mateeva R, Niederacher D, Sutter C, Deissler H, Preisler-Adams S, Simard J, Soucy P, Durocher F, Chenevix-Trench G, Beesley J, Chen X; KConFab, Rebbeck T, Couch F, Wang X, Lindor N, Fredericksen Z, Pankratz VS, Peterlongo P, Bonanni B, Fortuzzi S, Peissel B, Szabo C, Mai PL, Loud JT, Lubinski J; CIMBA, the Consortium of Investigators of Modifiers of BRCA1/2-Related Cancer.

Br J Cancer. 2012 Jun 5;106(12):2016-24. doi: 10.1038/bjc.2012.160. Epub 2012 May 15.

20.

Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: a population-based survey.

Magnusson S, Gisselsson D, Wiebe T, Kristoffersson U, Borg Å, Olsson H.

Pediatr Blood Cancer. 2012 Nov;59(5):846-53. doi: 10.1002/pbc.24223. Epub 2012 May 31.

PMID:
22653678
21.

Editorial: genetics and democracy.

Hedlund M, Hagen N, Kristoffersson U.

J Community Genet. 2012 Apr;3(2):57-9. doi: 10.1007/s12687-012-0088-y. Epub 2012 Mar 9. No abstract available.

22.

The wide variation of definitions of genetic testing in international recommendations, guidelines and reports.

Sequeiros J, Paneque M, Guimarães B, Rantanen E, Javaher P, Nippert I, Schmidtke J, Kääriäainen H, Kristoffersson U, Cassiman JJ.

J Community Genet. 2012 Apr;3(2):113-24. doi: 10.1007/s12687-012-0084-2. Epub 2012 Feb 25.

23.

Definitions of genetic testing in European legal documents.

Varga O, Soini S, Kääriäinen H, Cassiman JJ, Nippert I, Rogowski W, Nys H, Kristoffersson U, Schmidtke J, Sequeiros J.

J Community Genet. 2012 Apr;3(2):125-41. doi: 10.1007/s12687-012-0077-1. Epub 2012 Jan 26.

24.

Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer.

Bolton KL, Chenevix-Trench G, Goh C, Sadetzki S, Ramus SJ, Karlan BY, Lambrechts D, Despierre E, Barrowdale D, McGuffog L, Healey S, Easton DF, Sinilnikova O, Benítez J, García MJ, Neuhausen S, Gail MH, Hartge P, Peock S, Frost D, Evans DG, Eeles R, Godwin AK, Daly MB, Kwong A, Ma ES, Lázaro C, Blanco I, Montagna M, D'Andrea E, Nicoletto MO, Johnatty SE, Kjær SK, Jensen A, Høgdall E, Goode EL, Fridley BL, Loud JT, Greene MH, Mai PL, Chetrit A, Lubin F, Hirsh-Yechezkel G, Glendon G, Andrulis IL, Toland AE, Senter L, Gore ME, Gourley C, Michie CO, Song H, Tyrer J, Whittemore AS, McGuire V, Sieh W, Kristoffersson U, Olsson H, Borg Å, Levine DA, Steele L, Beattie MS, Chan S, Nussbaum RL, Moysich KB, Gross J, Cass I, Walsh C, Li AJ, Leuchter R, Gordon O, Garcia-Closas M, Gayther SA, Chanock SJ, Antoniou AC, Pharoah PD; EMBRACE; kConFab Investigators; Cancer Genome Atlas Research Network.

JAMA. 2012 Jan 25;307(4):382-90. doi: 10.1001/jama.2012.20.

25.

A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D gene.

Lövkvist H, Olsson S, Höglund P, Melander O, Jern C, Sjögren M, Engström G, Smith JG, Hedblad B, Andsberg G, Delavaran H, Jood K, Kristoffersson U, Luthman H, Norrving B, Lindgren A.

Eur J Hum Genet. 2012 Jul;20(7):783-9. doi: 10.1038/ejhg.2012.4. Epub 2012 Jan 25.

26.

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.

Ramus SJ, Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Sinilnikova OM, Healey S, Barrowdale D, Lee A, Thomassen M, Gerdes AM, Kruse TA, Jensen UB, Skytte AB, Caligo MA, Liljegren A, Lindblom A, Olsson H, Kristoffersson U, Stenmark-Askmalm M, Melin B; SWE-BRCA, Domchek SM, Nathanson KL, Rebbeck TR, Jakubowska A, Lubinski J, Jaworska K, Durda K, Złowocka E, Gronwald J, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Osorio A, Benitez J, Duran M, Tejada MI, Hamann U, Rookus M, van Leeuwen FE, Aalfs CM, Meijers-Heijboer HE, van Asperen CJ, van Roozendaal KE, Hoogerbrugge N, Collée JM, Kriege M, van der Luijt RB; HEBON; EMBRACE, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Jacobs C, Eeles R, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Paterson J, Douglas F, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Pathak H, Godwin AK, Stoppa-Lyonnet D, Caux-Moncoutier V, de Pauw A, Gauthier-Villars M, Mazoyer S, Léoné M, Calender A, Lasset C, Bonadona V, Hardouin A, Berthet P, Bignon YJ, Uhrhammer N, Faivre L, Loustalot C; GEMO, Buys S, Daly M, Miron A, Terry MB, Chung WK, John EM, Southey M, Goldgar D, Singer CF, Tea MK, Pfeiler G, Fink-Retter A, Hansen Tv, Ejlertsen B, Johannsson OT, Offit K, Kirchhoff T, Gaudet MM, Vijai J, Robson M, Piedmonte M, Phillips KA, Van Le L, Hoffman JS, Ewart Toland A, Montagna M, Tognazzo S, Imyanitov E, Issacs C, Janavicius R, Lazaro C, Blanco I, Tornero E, Navarro M, Moysich KB, Karlan BY, Gross J, Olah E, Vaszko T, Teo SH, Ganz PA, Beattie MS, Dorfling CM, van Rensburg EJ, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Schäfer D, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Plante M, Spurdle AB; kConFab, Neuhausen SL, Ding YC, Wang X, Lindor N, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Bernard L, Dolcetti R, Papi L, Ottini L, Radice P, Greene MH, Mai PL, Andrulis IL, Glendon G, Ozcelik H; OCGN, Pharoah PD, Gayther SA, Simard J, Easton DF, Couch FJ, Chenevix-Trench G; Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Hum Mutat. 2012 Apr;33(4):690-702. doi: 10.1002/humu.22025. Epub 2012 Feb 14.

27.

Increased incidence of childhood, prostate and breast cancers in relatives of childhood cancer patients.

Magnusson S, Wiebe T, Kristoffersson U, Jernström H, Olsson H.

Fam Cancer. 2012 Mar;11(1):145-55. doi: 10.1007/s10689-011-9493-3.

PMID:
22120843
28.

Confidence of primary care physicians in their ability to carry out basic medical genetic tasks-a European survey in five countries-Part 1.

Nippert I, Harris HJ, Julian-Reynier C, Kristoffersson U, Ten Kate LP, Anionwu E, Benjamin C, Challen K, Schmidtke J, Nippert RP, Harris R.

J Community Genet. 2011 Mar;2(1):1-11. doi: 10.1007/s12687-010-0030-0. Epub 2010 Dec 4.

29.

Community genetics. Its definition 2010.

Ten Kate LP, Al-Gazali L, Anand S, Bittles A, Cassiman JJ, Christianson A, Cornel MC, Hamamy H, Kääriäinen H, Kristoffersson U, Marais D, Penchaszadeh VB, Rahman P, Schmidtke J.

J Community Genet. 2010 Mar;1(1):19-22. Epub 2010 Mar 31.

30.

General practitioner management of genetic aspects of a cardiac disease: a scenario-based study to anticipate providers' practices.

Challen K, Harris H, Kristoffersson U, Nippert I, Schmidtke J, Ten Kate LP, Benjamin C, Anionwu E, Plass AM, Julian-Reynier C, Harris R.

J Community Genet. 2010 Jun;1(2):83-90. Epub 2010 Aug 9.

31.

Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.

Gilling M, Lind-Thomsen A, Mang Y, Bak M, Møller M, Ullmann R, Kristoffersson U, Kalscheuer VM, Henriksen KF, Bugge M, Tümer Z, Tommerup N.

Eur J Med Genet. 2011 Jul-Aug;54(4):e383-8. doi: 10.1016/j.ejmg.2011.03.008. Epub 2011 Mar 21.

PMID:
21426945
32.

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders.

Becker F, van El CG, Ibarreta D, Zika E, Hogarth S, Borry P, Cambon-Thomsen A, Cassiman JJ, Evers-Kiebooms G, Hodgson S, Janssens AC, Kaariainen H, Krawczak M, Kristoffersson U, Lubinski J, Patch C, Penchaszadeh VB, Read A, Rogowski W, Sequeiros J, Tranebjaerg L, van Langen IM, Wallace H, Zimmern R, Schmidtke J, Cornel MC.

Eur J Hum Genet. 2011 Apr;19 Suppl 1:S6-44. doi: 10.1038/ejhg.2010.249. Review. No abstract available.

33.

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.

Ramus SJ, Kartsonaki C, Gayther SA, Pharoah PD, Sinilnikova OM, Beesley J, Chen X, McGuffog L, Healey S, Couch FJ, Wang X, Fredericksen Z, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel A, Allavena A, Ottini L, Papi L, Gismondi V, Capra F, Radice P, Greene MH, Mai PL, Andrulis IL, Glendon G, Ozcelik H; OCGN, Thomassen M, Gerdes AM, Kruse TA, Cruger D, Jensen UB, Caligo MA, Olsson H, Kristoffersson U, Lindblom A, Arver B, Karlsson P, Stenmark Askmalm M, Borg A, Neuhausen SL, Ding YC, Nathanson KL, Domchek SM, Jakubowska A, Lubiński J, Huzarski T, Byrski T, Gronwald J, Górski B, Cybulski C, Dębniak T, Osorio A, Durán M, Tejada MI, Benítez J, Hamann U, Rookus MA, Verhoef S, Tilanus-Linthorst MA, Vreeswijk MP, Bodmer D, Ausems MG, van Os TA, Asperen CJ, Blok MJ, Meijers-Heijboer HE; HEBON; EMBRACE, Peock S, Cook M, Oliver C, Frost D, Dunning AM, Evans DG, Eeles R, Pichert G, Cole T, Hodgson S, Brewer C, Morrison PJ, Porteous M, Kennedy MJ, Rogers MT, Side LE, Donaldson A, Gregory H, Godwin A, Stoppa-Lyonnet D, Moncoutier V, Castera L, Mazoyer S, Barjhoux L, Bonadona V, Leroux D, Faivre L, Lidereau R, Nogues C, Bignon YJ, Prieur F, Collonge-Rame MA, Venat-Bouvet L, Fert-Ferrer S; GEMO Study Collaborators, Miron A, Buys SS, Hopper JL, Daly MB, John EM, Terry MB, Goldgar D; BCFR, Hansen Tv, Jønson L, Ejlertsen B, Agnarsson BA, Offit K, Kirchhoff T, Vijai J, Dutra-Clarke AV, Przybylo JA, Montagna M, Casella C, Imyanitov EN, Janavicius R, Blanco I, Lázaro C, Moysich KB, Karlan BY, Gross J, Beattie MS, Schmutzler R, Wappenschmidt B, Meindl A, Ruehl I, Fiebig B, Sutter C, Arnold N, Deissler H, Varon-Mateeva R, Kast K, Niederacher D, Gadzicki D, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Simard J, Soucy P; kConFab Investigators, Spurdle AB, Holland H, Chenevix-Trench G, Easton DF, Antoniou AC; Consortium of Investigators of Modifiers of BRCA1/2.

J Natl Cancer Inst. 2011 Jan 19;103(2):105-16. doi: 10.1093/jnci/djq494. Epub 2010 Dec 17.

34.

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.

Walker LC, Fredericksen ZS, Wang X, Tarrell R, Pankratz VS, Lindor NM, Beesley J, Healey S, Chen X; kConFab, Stoppa-Lyonnet D, Tirapo C, Giraud S, Mazoyer S, Muller D, Fricker JP, Delnatte C; GEMO Study Collaborators, Schmutzler RK, Wappenschmidt B, Engel C, Schönbuchner I, Deissler H, Meindl A, Hogervorst FB, Verheus M, Hooning MJ, van den Ouweland AM, Nelen MR, Ausems MG, Aalfs CM, van Asperen CJ, Devilee P, Gerrits MM, Waisfisz Q; HEBON, Szabo CI; ModSQuaD, Easton DF, Peock S, Cook M, Oliver CT, Frost D, Harrington P, Evans DG, Lalloo F, Eeles R, Izatt L, Chu C, Davidson R, Eccles D, Ong KR, Cook J; EMBRACE, Rebbeck T, Nathanson KL, Domchek SM, Singer CF, Gschwantler-Kaulich D, Dressler AC, Pfeiler G, Godwin AK, Heikkinen T, Nevanlinna H, Agnarsson BA, Caligo MA, Olsson H, Kristoffersson U, Liljegren A, Arver B, Karlsson P, Melin B; SWE-BRCA, Sinilnikova OM, McGuffog L, Antoniou AC, Chenevix-Trench G, Spurdle AB, Couch FJ.

Breast Cancer Res. 2010;12(6):R102. doi: 10.1186/bcr2785. Epub 2010 Nov 29.

35.

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Engel C, Versmold B, Wappenschmidt B, Simard J, Easton DF, Peock S, Cook M, Oliver C, Frost D, Mayes R, Evans DG, Eeles R, Paterson J, Brewer C; Epidemiological Study of Familial Breast Cancer (EMBRACE), McGuffog L, Antoniou AC, Stoppa-Lyonnet D, Sinilnikova OM, Barjhoux L, Frenay M, Michel C, Leroux D, Dreyfus H, Toulas C, Gladieff L, Uhrhammer N, Bignon YJ, Meindl A, Arnold N, Varon-Mateeva R, Niederacher D, Preisler-Adams S, Kast K, Deissler H, Sutter C, Gadzicki D, Chenevix-Trench G, Spurdle AB, Chen X, Beesley J; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Olsson H, Kristoffersson U, Ehrencrona H, Liljegren A; Swedish Breast Cancer Study, Sweden (SWE-BRCA), van der Luijt RB, van Os TA, van Leeuwen FE; Hereditary Breast and Ovarian cancer group Netherlands (HEBON), Domchek SM, Rebbeck TR, Nathanson KL, Osorio A, Ramón y Cajal T, Konstantopoulou I, Benítez J, Friedman E, Kaufman B, Laitman Y, Mai PL, Greene MH, Nevanlinna H, Aittomäki K, Szabo CI, Caldes T, Couch FJ, Andrulis IL, Godwin AK, Hamann U, Schmutzler RK; Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Cancer Epidemiol Biomarkers Prev. 2010 Nov;19(11):2859-68. doi: 10.1158/1055-9965.EPI-10-0517. Epub 2010 Oct 26.

36.

Genetic screening in Europe.

Javaher P, Nyoungui E, Kääriäinen H, Kristoffersson U, Nippert I, Sequeiros J, Schmidtke J.

Public Health Genomics. 2010;13(7-8):524-37. doi: 10.1159/000294998. Epub 2010 Mar 5.

PMID:
20203479
37.

Scope of definitions of genetic testing: evidence from a EuroGentest survey.

Pinto-Basto J, Guimarães B, Rantanen E, Javaher P, Nippert I, Cassiman JJ, Kääriäinen H, Kristoffersson U, Schmidtke J, Sequeiros J.

J Community Genet. 2010 Mar;1(1):29-35. doi: 10.1007/s12687-010-0004-2. Epub 2010 Mar 16.

38.

[Hereditary risk of sudden cardiac death--genetic investigation of the family].

Lundin C, Platonov P, Kristoffersson U.

Lakartidningen. 2009 Apr 7-21;106(15-16):1089-93. Review. Swedish. No abstract available.

PMID:
19492675
39.

Testing the children: do non-genetic health-care providers differ in their decision to advise genetic presymptomatic testing on minors? A cross-sectional study in five countries in the European Union.

Plass AM, Baars MJ, Cornel MC, Julian-Reynier C, Nippert I, Harris H, Kristoffersson U, Schmidtke J, Anionwu EN, Benjamin C, Challen K, Harris R, ten Kate LP.

Genet Test Mol Biomarkers. 2009 Jun;13(3):367-76. doi: 10.1089/gtmb.2008.0119.

PMID:
19473081
40.

Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72.

Nilbert M, Kristoffersson U, Ericsson M, Johannsson O, Rambech E, Mangell P.

BMC Med Genet. 2008 Nov 26;9:101. doi: 10.1186/1471-2350-9-101.

41.

Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes.

Magnusson S, Borg A, Kristoffersson U, Nilbert M, Wiebe T, Olsson H.

Fam Cancer. 2008;7(4):331-7. doi: 10.1007/s10689-008-9195-7. Epub 2008 May 15.

PMID:
18481196
42.

Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives.

Rantanen E, Hietala M, Kristoffersson U, Nippert I, Schmidtke J, Sequeiros J, Kääriäinen H.

Eur J Hum Genet. 2008 Oct;16(10):1208-16. doi: 10.1038/ejhg.2008.93. Epub 2008 May 14.

43.

Ischaemic stroke in hypertensive patients is associated with variations in the PDE4D genome region.

Lövkvist H, Smith JG, Luthman H, Höglund P, Norrving B, Kristoffersson U, Jönsson AC, Lindgren AG.

Eur J Hum Genet. 2008 Sep;16(9):1117-25. doi: 10.1038/ejhg.2008.62. Epub 2008 Apr 9.

44.

Genetics in clinical practice: general practitioners' educational priorities in European countries.

Julian-Reynier C, Nippert I, Calefato JM, Harris H, Kristoffersson U, Schmidtke J, Ten Kate L, Anionwu E, Benjamin C, Challen K, Plass AM, Harris R.

Genet Med. 2008 Feb;10(2):107-13. doi: 10.1097/GIM.0b013e3181616693. Erratum in: Genet Med. 2008 Mar;10(3):228.

PMID:
18281917
45.

Assessing educational priorities in genetics for general practitioners and specialists in five countries: factor structure of the Genetic-Educational Priorities (Gen-EP) scale.

Calefato JM, Nippert I, Harris HJ, Kristoffersson U, Schmidtke J, Ten Kate LP, Anionwu E, Benjamin C, Challen K, Plass AM, Harris R, Julian-Reynier C.

Genet Med. 2008 Feb;10(2):99-106. doi: 10.1097/GIM.0b013e3181614271.

PMID:
18281916
46.

Regulatory issues for genetic testing in clinical practice.

Kristoffersson U.

Mol Biotechnol. 2008 Sep;40(1):113-7. doi: 10.1007/s12033-008-9041-z. Epub 2008 Feb 13. Review.

PMID:
18270847
47.

EuroGentest: DNA-based testing for heritable disorders in Europe.

Javaher P, Kaariainen H, Kristoffersson U, Nippert I, Sequeiros J, Zimmern R, Schmidtke J.

Community Genet. 2008;11(2):75-120. doi: 10.1159/000111984. Epub 2008 Jan 17. Review.

PMID:
18204250
48.

What is ideal genetic counselling? A survey of current international guidelines.

Rantanen E, Hietala M, Kristoffersson U, Nippert I, Schmidtke J, Sequeiros J, Kääriäinen H.

Eur J Hum Genet. 2008 Apr;16(4):445-52. doi: 10.1038/sj.ejhg.5201983. Epub 2008 Jan 16.

49.

Educational priorities and current involvement in genetic practice: a survey of midwives in the Netherlands, UK and Sweden.

Benjamin CM, Anionwu EN, Kristoffersson U, ten Kate LP, Plass AM, Nippert I, Julian-Reynier C, Harris HJ, Schmidtke J, Challen K, Calefato JM, Waterman C, Powell E, Harris R; GenEd Research Group.

Midwifery. 2009 Oct;25(5):483-99. Epub 2008 Feb 20.

PMID:
18068279
50.

Report of an international survey of molecular genetic testing laboratories.

McGovern MM, Elles R, Beretta I, Somerville MJ, Hoefler G, Keinanen M, Barton D, Carson N, Dequeker E, Brdicka R, Blazkova A, Aymé S, Schnieders B, Muller CR, Dalen V, Martinez AA, Kristoffersson U, Ozguc M, Mueller H, Boone J, Lubin IM, Sequeiros J, Taruscio D, Williamson B, Mainland L, Yoshikura H, Ronchi E.

Community Genet. 2007;10(3):123-31.

PMID:
17575456

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