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Items: 27

1.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A, Lalloo F, Larsen M, Lattimore VL, Lautrup C, Ledig S, Leinert E, Lewis AL, Lim J, Loeffler M, López-Fernández A, Lucci-Cordisco E, Maass N, Manoukian S, Marabelli M, Matricardi L, Meindl A, Michelli RD, Moghadasi S, Moles-Fernández A, Montagna M, Montalban G, Monteiro AN, Montes E, Mori L, Moserle L, Müller CR, Mundhenke C, Naldi N, Nathanson KL, Navarro M, Nevanlinna H, Nichols CB, Niederacher D, Nielsen HR, Ong KR, Pachter N, Palmero EI, Papi L, Pedersen IS, Peissel B, Perez-Segura P, Pfeifer K, Pineda M, Pohl-Rescigno E, Poplawski NK, Porfirio B, Quante AS, Ramser J, Reis RM, Revillion F, Rhiem K, Riboli B, Ritter J, Rivera D, Rofes P, Rump A, Salinas M, Sánchez de Abajo AM, Schmidt G, Schoenwiese U, Seggewiß J, Solanes A, Steinemann D, Stiller M, Stoppa-Lyonnet D, Sullivan KJ, Susman R, Sutter C, Tavtigian SV, Teo SH, Teulé A, Thomassen M, Tibiletti MG, Tischkowitz M, Tognazzo S, Toland AE, Tornero E, Törngren T, Torres-Esquius S, Toss A, Trainer AH, Tucker KM, van Asperen CJ, van Mackelenbergh MT, Varesco L, Vargas-Parra G, Varon R, Vega A, Velasco Á, Vesper AS, Viel A, Vreeswijk MPG, Wagner SA, Waha A, Walker LC, Walters RJ, Wang-Gohrke S, Weber BHF, Weichert W, Wieland K, Wiesmüller L, Witzel I, Wöckel A, Woodward ER, Zachariae S, Zampiga V, Zeder-Göß C, Investigators K, Lázaro C, De Nicolo A, Radice P, Engel C, Schmutzler RK, Goldgar DE, Spurdle AB.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

2.

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.

Nielsen SM, Eccles DM, Romero IL, Al-Mulla F, Balmaña J, Biancolella M, Bslok R, Caligo MA, Calvello M, Capone GL, Cavalli P, Chan TLC, Claes KBM, Cortesi L, Couch FJ, de la Hoya M, De Toffol S, Diez O, Domchek SM, Eeles R, Efremidis A, Fostira F, Goldgar D, Hadjisavvas A, Hansen TVO, Hirasawa A, Houdayer C, Kleiblova P, Krieger S, Lázaro C, Loizidou M, Manoukian S, Mensenkamp AR, Moghadasi S, Monteiro AN, Mori L, Morrow A, Naldi N, Nielsen HR, Olopade OI, Pachter NS, Palmero EI, Pedersen IS, Piane M, Puzzo M, Robson M, Rossing M, Sini MC, Solano A, Soukupova J, Tedaldi G, Teixeira M, Thomassen M, Tibiletti MG, Toland A, Törngren T, Vaccari E, Varesco L, Vega A, Wallis Y, Wappenschmidt B, Weitzel J, Spurdle AB, De Nicolo A, Gómez-García EB.

JCO Precis Oncol. 2018;2. doi: 10.1200/PO.18.00091. Epub 2018 Oct 26.

3.

Mutational and putative neoantigen load predict clinical benefit of adoptive T cell therapy in melanoma.

Lauss M, Donia M, Harbst K, Andersen R, Mitra S, Rosengren F, Salim M, Vallon-Christersson J, Törngren T, Kvist A, Ringnér M, Svane IM, Jönsson G.

Nat Commun. 2017 Nov 23;8(1):1738. doi: 10.1038/s41467-017-01460-0.

4.

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.

5.

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.

Catucci I, Osorio A, Arver B, Neidhardt G, Bogliolo M, Zanardi F, Riboni M, Minardi S, Pujol R, Azzollini J, Peissel B, Manoukian S, De Vecchi G, Casola S, Hauke J, Richters L, Rhiem K, Schmutzler RK, Wallander K, Törngren T, Borg Å, Radice P, Surrallés J, Hahnen E, Ehrencrona H, Kvist A, Benitez J, Peterlongo P.

Genet Med. 2018 Apr;20(4):452-457. doi: 10.1038/gim.2017.123. Epub 2017 Aug 24.

PMID:
28837162
6.

Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication.

Pelttari LM, Shimelis H, Toiminen H, Kvist A, Törngren T, Borg Å, Blomqvist C, Bützow R, Couch F, Aittomäki K, Nevanlinna H.

Clin Genet. 2018 Mar;93(3):595-602. doi: 10.1111/cge.13123. Epub 2018 Jan 12.

PMID:
28802053
7.

NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Cirenajwis H, Lauss M, Ekedahl H, Törngren T, Kvist A, Saal LH, Olsson H, Staaf J, Carneiro A, Ingvar C, Harbst K, Hayward NK, Jönsson G.

Mol Oncol. 2017 Apr;11(4):438-451. doi: 10.1002/1878-0261.12050. Epub 2017 Mar 24.

8.

Cytohesin 1 regulates homing and engraftment of human hematopoietic stem and progenitor cells.

Rak J, Foster K, Potrzebowska K, Talkhoncheh MS, Miharada N, Komorowska K, Torngren T, Kvist A, Borg Å, Svensson L, Bonnet D, Larsson J.

Blood. 2017 Feb 23;129(8):950-958. doi: 10.1182/blood-2016-06-720649. Epub 2016 Nov 29.

9.

Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

Rohlin A, Rambech E, Kvist A, Törngren T, Eiengård F, Lundstam U, Zagoras T, Gebre-Medhin S, Borg Å, Björk J, Nilbert M, Nordling M.

Fam Cancer. 2017 Apr;16(2):195-203. doi: 10.1007/s10689-016-9934-0.

10.

Multiregion Whole-Exome Sequencing Uncovers the Genetic Evolution and Mutational Heterogeneity of Early-Stage Metastatic Melanoma.

Harbst K, Lauss M, Cirenajwis H, Isaksson K, Rosengren F, Törngren T, Kvist A, Johansson MC, Vallon-Christersson J, Baldetorp B, Borg Å, Olsson H, Ingvar C, Carneiro A, Jönsson G.

Cancer Res. 2016 Aug 15;76(16):4765-74. doi: 10.1158/0008-5472.CAN-15-3476. Epub 2016 May 23.

11.

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.

12.

Genome-wide RNAi Screen Identifies Cohesin Genes as Modifiers of Renewal and Differentiation in Human HSCs.

Galeev R, Baudet A, Kumar P, Rundberg Nilsson A, Nilsson B, Soneji S, Törngren T, Borg Å, Kvist A, Larsson J.

Cell Rep. 2016 Mar 29;14(12):2988-3000. doi: 10.1016/j.celrep.2016.02.082. Epub 2016 Mar 17.

13.

Radiographic evaluation of short-stem press-fit total shoulder arthroplasty: short-term follow-up.

Casagrande DJ, Parks DL, Torngren T, Schrumpf MA, Harmsen SM, Norris TR, Kelly JD 2nd.

J Shoulder Elbow Surg. 2016 Jul;25(7):1163-9. doi: 10.1016/j.jse.2015.11.067. Epub 2016 Feb 17.

PMID:
26897311
14.

Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.

Olsson E, Winter C, George A, Chen Y, Törngren T, Bendahl PO, Borg Å, Gruvberger-Saal SK, Saal LH.

PLoS One. 2015 Dec 15;10(12):e0144528. doi: 10.1371/journal.pone.0144528. eCollection 2015.

15.

Remarkable similarities of chromosomal rearrangements between primary human breast cancers and matched distant metastases as revealed by whole-genome sequencing.

Tang MH, Dahlgren M, Brueffer C, Tjitrowirjo T, Winter C, Chen Y, Olsson E, Wang K, Törngren T, Sjöström M, Grabau D, Bendahl PO, Rydén L, Niméus E, Saal LH, Borg Å, Gruvberger-Saal SK.

Oncotarget. 2015 Nov 10;6(35):37169-84. doi: 10.18632/oncotarget.5951.

16.

Molecular stratification of metastatic melanoma using gene expression profiling: Prediction of survival outcome and benefit from molecular targeted therapy.

Cirenajwis H, Ekedahl H, Lauss M, Harbst K, Carneiro A, Enoksson J, Rosengren F, Werner-Hartman L, Törngren T, Kvist A, Fredlund E, Bendahl PO, Jirström K, Lundgren L, Howlin J, Borg Å, Gruvberger-Saal SK, Saal LH, Nielsen K, Ringnér M, Tsao H, Olsson H, Ingvar C, Staaf J, Jönsson G.

Oncotarget. 2015 May 20;6(14):12297-309.

17.

Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells.

Björkman A, Qvist P, Du L, Bartish M, Zaravinos A, Georgiou K, Børglum AD, Gatti RA, Törngren T, Pan-Hammarström Q.

Proc Natl Acad Sci U S A. 2015 Feb 17;112(7):2157-62. doi: 10.1073/pnas.1418947112. Epub 2015 Feb 2.

18.

Molecular and genetic diversity in the metastatic process of melanoma.

Harbst K, Lauss M, Cirenajwis H, Winter C, Howlin J, Törngren T, Kvist A, Nodin B, Olsson E, Häkkinen J, Jirström K, Staaf J, Lundgren L, Olsson H, Ingvar C, Gruvberger-Saal SK, Saal LH, Jönsson G.

J Pathol. 2014 May;233(1):39-50. doi: 10.1002/path.4318. Epub 2014 Jan 27.

19.

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration.

COMPLEXO, Southey MC, Park DJ, Nguyen-Dumont T, Campbell I, Thompson E, Trainer AH, Chenevix-Trench G, Simard J, Dumont M, Soucy P, Thomassen M, Jønson L, Pedersen IS, Hansen TV, Nevanlinna H, Khan S, Sinilnikova O, Mazoyer S, Lesueur F, Damiola F, Schmutzler R, Meindl A, Hahnen E, Dufault MR, Chris Chan T, Kwong A, Barkardóttir R, Radice P, Peterlongo P, Devilee P, Hilbers F, Benitez J, Kvist A, Törngren T, Easton D, Hunter D, Lindstrom S, Kraft P, Zheng W, Gao YT, Long J, Ramus S, Feng BJ, Weitzel JN, Nathanson K, Offit K, Joseph V, Robson M, Schrader K, Wang S, Kim YC, Lynch H, Snyder C, Tavtigian S, Neuhausen S, Couch FJ, Goldgar DE.

Breast Cancer Res. 2013 Jun 21;15(3):402. doi: 10.1186/bcr3434.

20.

Molecular profiling reveals low- and high-grade forms of primary melanoma.

Harbst K, Staaf J, Lauss M, Karlsson A, Måsbäck A, Johansson I, Bendahl PO, Vallon-Christersson J, Törngren T, Ekedahl H, Geisler J, Höglund M, Ringnér M, Lundgren L, Jirström K, Olsson H, Ingvar C, Borg Å, Tsao H, Jönsson G.

Clin Cancer Res. 2012 Aug 1;18(15):4026-36. doi: 10.1158/1078-0432.CCR-12-0343. Epub 2012 Jun 6. Erratum in: Clin Cancer Res. 2012 Oct 15;18(20):5829. Höglund, Markus [corrected to Höglund, Mattias]; Ringnér, Mattias [corrected to Ringnér, Markus].

21.

IGF1 htSNPs in relation to IGF-1 levels in young women from high-risk breast cancer families: implications for early-onset breast cancer.

Henningson M, Hietala M, Törngren T, Olsson H, Jernström H.

Fam Cancer. 2011 Jun;10(2):173-85. doi: 10.1007/s10689-010-9404-z.

PMID:
21113804
22.

Androgen receptor htSNPs in relation to androgen levels and OC use in young women from high-risk breast cancer families.

Hietala M, Henningson M, Törngren T, Olsson H, Jernström H.

Mol Genet Metab. 2011 Jan;102(1):82-90. doi: 10.1016/j.ymgme.2010.09.006. Epub 2010 Sep 25.

PMID:
20947401
23.

Adjuvant systemic therapy for breast cancer in BRCA1/BRCA2 mutation carriers in a population-based study of risk of contralateral breast cancer.

Reding KW, Bernstein JL, Langholz BM, Bernstein L, Haile RW, Begg CB, Lynch CF, Concannon P, Borg A, Teraoka SN, Törngren T, Diep A, Xue S, Bertelsen L, Liang X, Reiner AS, Capanu M, Malone KE; WECARE Collaborative Study Group.

Breast Cancer Res Treat. 2010 Sep;123(2):491-8. doi: 10.1007/s10549-010-0769-3. Epub 2010 Feb 5.

24.

Reproductive factors and risk of contralateral breast cancer by BRCA1 and BRCA2 mutation status: results from the WECARE study.

Poynter JN, Langholz B, Largent J, Mellemkjaer L, Bernstein L, Malone KE, Lynch CF, Borg A, Concannon P, Teraoka SN, Xue S, Diep AT, Törngren T, Begg CB, Capanu M, Haile RW; WECARE Study Collaborative Group, Bernstein JL.

Cancer Causes Control. 2010 Jun;21(6):839-46. doi: 10.1007/s10552-010-9510-0. Epub 2010 Feb 4.

25.

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

26.

Oral contraceptives and postmenopausal hormones and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers and noncarriers: the WECARE Study.

Figueiredo JC, Haile RW, Bernstein L, Malone KE, Largent J, Langholz B, Lynch CF, Bertelsen L, Capanu M, Concannon P, Borg A, Børresen-Dale AL, Diep A, Teraoka S, Torngren T, Xue S, Bernstein JL.

Breast Cancer Res Treat. 2010 Feb;120(1):175-83. doi: 10.1007/s10549-009-0455-5. Epub 2009 Jul 14.

27.

Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH).

Staaf J, Törngren T, Rambech E, Johansson U, Persson C, Sellberg G, Tellhed L, Nilbert M, Borg A.

Hum Mutat. 2008 Apr;29(4):555-64. doi: 10.1002/humu.20678.

PMID:
18330910

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