Familial Breast Cancer

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  1. 2019
  2. Functional characterization of novel germline TP53 variants in Swedish families

    Kharaziha, P., Ceder, S., Axell, O., Krall, M., Fotouhi, O., Böhm, S., Lain, S., Åke Borg, Larsson, C., Wiman, K. G., Tham, E. & Bajalica-Lagercrantz, S., 2019 May 12, In : Clinical Genetics.

    Research output: Contribution to journalArticle

  3. Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort

    Li, J., Wen, W. X., Eklund, M., Kvist, A., Eriksson, M., Christensen, H. N., Torstensson, A., Bajalica-Lagercrantz, S., Dunning, A. M., Decker, B., Allen, J., Luccarini, C., Pooley, K., Simard, J., Dorling, L., Easton, D. F., Teo, S. H., Hall, P., Borg, Å., Grönberg, H. & 1 othersCzene, K., 2019 Mar 1, In : International Journal of Cancer. 144, 5, p. 1195-1204

    Research output: Contribution to journalArticle

  4. Low Postseroconversion CD4+ T-cell Level Is Associated with Faster Disease Progression and Higher Viral Evolutionary Rate in HIV-2 Infection

    Palm, A. A., Lemey, P., Marianne Jansson, Fredrik Månsson, Anders Kvist, Szojka, Z., Biague, A., da Silva, Z. J., Rowland-Jones, S. L., Hans Norrgren, Joakim Esbjörnsson & Patrik Medstrand, 2019 Jan 8, In : mBio. 10, 1, e01245-18.

    Research output: Contribution to journalArticle

  5. Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

    Brandão, R. D., Mensaert, K., López-Perolio, I., Tserpelis, D., Xenakis, M., Lattimore, V., Walker, L. C., Anders Kvist, Vega, A., Gutiérrez-Enríquez, S., Díez, O., de la Hoya, M., Spurdle, A. B., De Meyer, T. & Blok, M. J., 2019, In : International Journal of Cancer. 145, 2, p. 401-414

    Research output: Contribution to journalArticle

  6. 2018
  7. Multidimensional transcriptomics provides detailed information about immune cell distribution an identity in HER2+ breast tumors

    Salmén, F., Vickovic, S., Larsson, L., Stenbeck, L., Johan Vallon-Christersson, Anna Ehinger, Jari Häkkinen, Åke Borg, Frisén, J., Stahl, P. & Lundeberg, J., 2018 Jun 29

    Research output: Other contributionMiscellaneous

  8. Intact glucose uptake despite deteriorating signaling in adipocytes with high-fat feeding

    Björn Hansson, Sebastian Wasserstrom, Björn Morén, Periwal, V., Petter Vikman, Cushman, S. W., Olga Göransson, Storm, P. & Karin G. Stenkula, 2018 Apr 1, In : Journal of Molecular Endocrinology. 60, 3, p. 199-211 13 p.

    Research output: Contribution to journalArticle

  9. 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, R. K., Wallander, K., Törngren, T. & 8 othersÅke Borg, Radice, P., Surrallés, J., Hahnen, E., Hans Ehrencrona, Anders Kvist, Benitez, J. & Peterlongo, P., 2018, In : Genetics in Medicine. 20, p. 452–457 6 p.

    Research output: Contribution to journalArticle

  10. 2017
  11. Myoepithelium assessment with p63 immunostaining in formalinfixed paraffin-embedded breast cancer tissue pre-treated with RNA-later

    Anna Ehinger, Remse, I., Lövgren, K., Cecilia Hegardt, Jari Häkkinen, Lao Saal, Johan Vallon-Christersson & Åke Borg, 2017 Sep 2, In : Virchows Archiv. 471, Supplement 1, p. 299 1 p., E-PS-02-027.

    Research output: Contribution to journalPublished meeting abstract

  12. HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures

    Davies, H. R., Glodzik, D., Morganella, S., Yates, L. R., Staaf, J., Zou, X., Ramakrishna, M., Martin, S., Boyault, S., Sieuwerts, A. M., Simpson, P. T., King, T. A., Raine, K., Eyfjord, J. E., Kong, G., Borg, Å., Birney, E., Stunnenberg, H. G., van de Vijver, M. J., Børresen-Dale, A-L. & 13 othersMartens, J. W. M., Span, P. N., Lakhani, S. R., Vincent-Salomon, A., Sotiriou, C., Tutt, A., Thompson, A. M., Van Laere, S., Richardson, A. L., Viari, A., Campbell, P. J., Stratton, M. R. & Nik-Zainal, S., 2017 Apr, In : Nature Medicine. 23, 4, p. 517-525 9 p.

    Research output: Contribution to journalArticle

  13. Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148

    Fang, J., Amundadottir, L. T., Christian Ingvar, Håkan Olsson, Göran Jönsson, Åke Borg, Katja Harbst, Kari Nielsen, Zander, A. S., PanScan Consortium, TRICL Consortium & GenoMEL Investigators, 2017 Jan 1, In : Nature Communications. 8, 15034.

    Research output: Contribution to journalArticle

  14. FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population

    Kiiski, J. I., Tervasmäki, A., Pelttari, L. M., Khan, S., Mantere, T., Pylkäs, K., Mannermaa, A., Tengström, M., Anders Kvist, Åke Borg, Kosma, V-M., Kallioniemi, A., Schleutker, J., Bützow, R., Blomqvist, C., Aittomäki, K., Winqvist, R. & Nevanlinna, H., 2017, In : Breast Cancer Research and Treatment. 166, 1, p. 217-226

    Research output: Contribution to journalArticle

  15. 2016
  16. Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

    Rebbeck, T. R., Friebel, T. M., Mitra, N., Wan, F., Chen, S., Andrulis, I. L., Apostolou, P., Arnold, N., Arun, B. K., Barrowdale, D., Benitez, J., Berger, R., Berthet, P., Borg, Å., Buys, S. S., Caldes, T., Carter, J., Chiquette, J., Claes, K. B. M., Couch, F. J. & 82 othersCybulski, C., Daly, M. B., de la Hoya, M., Diez, O., Domchek, S. M., Nathanson, K. L., Durda, K., Ellis, S., Evans, D. G., Foretova, L., Friedman, E., Frost, D., Ganz, P. A., Garber, J., Glendon, G., Godwin, A. K., Greene, M. H., Gronwald, J., Hahnen, E., Hallberg, E., Hamann, U., Hansen, T. V. O., Imyanitov, E. N., Isaacs, C., Jakubowska, A., Janavicius, R., Jaworska-Bieniek, K., John, E. M., Karlan, B. Y., Kaufman, B., Kwong, A., Laitman, Y., Lasset, C., Lazaro, C., Lester, J., Niklas Loman, Lubinski, J., Manoukian, S., Mitchell, G., Montagna, M., Neuhausen, S. L., Nevanlinna, H., Niederacher, D., Nussbaum, R. L., Offit, K., Olah, E., Olopade, O. I., Park, S. K., Piedmonte, M., Radice, P., Rappaport-Fuerhauser, C., Rookus, M. A., Seynaeve, C., Simard, J., Singer, C. F., Soucy, P., Southey, M., Stoppa-Lyonnet, D., Sukiennicki, G., Szabo, C. I., Tancredi, M., Teixeira, M. R., Teo, S. H., Terry, M. B., Thomassen, M., Tihomirova, L., Tischkowitz, M., Toland, A. E., Toloczko-Grabarek, A., Tung, N., van Rensburg, E. J., Villano, D., Wang-Gohrke, S., Wappenschmidt, B., Weitzel, J. N., Zidan, J., Zorn, K. K., McGuffog, L., Easton, D., Chenevix-Trench, G., Antoniou, A. C. & Ramus, S. J., 2016 Nov 11, In : Breast Cancer Research. 18, 1, 112.

    Research output: Contribution to journalArticle

  17. Landscape of somatic mutations in 560 breast cancer whole-genome sequences

    Nik-Zainal, S., Davies, H., Staaf, J., Ramakrishna, M., Glodzik, D., Zou, X., Martincorena, I., Alexandrov, L. B., Martin, S., Wedge, D. C., Van Loo, P., Ju, Y. S., Smid, M., Brinkman, A. B., Morganella, S., Aure, M. R., Lingjærde, O. C., Langerød, A., Ringnér, M., Ahn, S-M. & 68 othersBoyault, S., Brock, J. E., Broeks, A., Butler, A., Desmedt, C., Dirix, L., Dronov, S., Fatima, A., Foekens, J. A., Gerstung, M., Hooijer, G. K. J., Jang, S. J., Jones, D. R., Kim, H-Y., King, T. A., Krishnamurthy, S., Lee, H. J., Lee, J-Y., Li, Y., McLaren, S., Menzies, A., Mustonen, V., O'Meara, S., Pauporté, I., Pivot, X., Purdie, C. A., Raine, K., Ramakrishnan, K., Rodríguez-González, F. G., Romieu, G., Sieuwerts, A. M., Simpson, P. T., Shepherd, R., Stebbings, L., Stefansson, O. A., Teague, J., Tommasi, S., Treilleux, I., Van den Eynden, G. G., Vermeulen, P., Vincent-Salomon, A., Yates, L., Caldas, C., van't Veer, L., Tutt, A., Knappskog, S., Tan, B. K. T., Jonkers, J., Åke Borg, Ueno, N. T., Sotiriou, C., Viari, A., Futreal, P. A., Campbell, P. J., Span, P. N., Van Laere, S., Lakhani, S. R., Eyfjord, J. E., Thompson, A. M., Birney, E., Stunnenberg, H. G., van de Vijver, M. J., Martens, J. W. M., Børresen-Dale, A-L., Richardson, A. L., Kong, G., Thomas, G. & Stratton, M. R., 2016 Jun 2, In : Nature. 534, 7605, p. 47-54 8 p.

    Research output: Contribution to journalArticle

  18. Spatial Transcriptomics. Digital Pathology to Investigate Intratumor Heterogeneity in Breast Cancer.

    Salmén, F., Vickovic, S., Jemt, A., Bergenstråhle, J., Fernandez, J., Mollbrink, A., Johan Vallon-Christersson, Johan Staaf, Jari Häkkinen, Anna Ehinger, Ponten, F., Day, B., Jafri, S., Frisén, J., Åke Borg, Lundeberg, J. & Ståhl, P., 2016 Feb 10, (Unpublished).

    Research output: Contribution to conferencePoster

  19. 2015
  20. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

    Peterlongo, P., Catucci, I., Colombo, M., Caleca, L., Mucaki, E., Bogliolo, M., Marin, M., Damiola, F., Bernard, L., Pensotti, V., Volorio, S., Dall'Olio, V., Meindl, A., Bartram, C., Sutter, C., Surowy, H., Sornin, V., Dondon, M-G., Eon-Marchais, S., Stoppa-Lyonnet, D. & 76 othersAndrieu, N., Sinilnikova, O. M., Mitchell, G., James, P. A., Thompson, E., Marchetti, M., Verzeroli, C., Tartari, C., Capone, G. L., Putignano, A. L., Genuardi, M., Medici, V., Marchi, I., Federico, M., Tognazzo, S., Matricardi, L., Agata, S., Dolcetti, R., Puppa, L. D., Cini, G., Gismondi, V., Viassolo, V., Perfumo, C., Mencarelli, M. A., Baldassarri, M., Peissel, B., Roversi, G., Silvestri, V., Rizzolo, P., Spina, F., Vivanet, C., Tibiletti, M. G., Caligo, M. A., Gambino, G., Tommasi, S., Pilato, B., Tondini, C., Corna, C., Bonanni, B., Barile, M., Osorio, A., Benitez, J., Balestrino, L., Ottini, L., Manoukian, S., Pierotti, M. A., Renieri, A., Varesco, L., Couch, F. J., Wang, X., Devilee, P., Hilbers, F. S., van Asperen, C. J., Viel, A., Montagna, M., Cortesi, L., Diez, O., Balmaña, J., Hauke, J., Schmutzler, R. K., Papi, L., Pujana, M. A., Lázaro, C., Falanga, A., Offit, K., Vijai, J., Campbell, I., Burwinkel, B., Anders Kvist, Hans Ehrencrona, Mazoyer, S., Pizzamiglio, S., Verderio, P., Surralles, J., Rogan, P. K. & Radice, P., 2015, In : Human Molecular Genetics. 24, 18, p. 5345-5355

    Research output: Contribution to journalArticle

  21. 2014
  22. Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

    Kuchenbaecker, K. B., Niklas Loman, Åke Borg, Hans Ehrencrona, Antoniou, A. C., Håkan Olsson, Helena Jernström, Henriksson, K., Katja Harbst, Soller, M., Ulf Kristoffersson & EMBRACE Study, 2014 Dec 31, In : Breast Cancer Research. 16, 6, p. 1-27 3416.

    Research output: Contribution to journalArticle

  23. CDKN2A-mutation hos en familie med arveligt malignt melanom

    Djursby, M., Wadt, K. A. W., Lorentzen, H., Ake Borg, Gerdes, A-M. & Krogh, L., 2014 Sep 29, In : Ugeskrift for Laeger. 176, 40

    Research output: Contribution to journalArticle

  24. 2012
  25. The retinoblastoma gene undergoes rearrangements in BRCA1-deficient basal-like breast cancer.

    Jönsson, G. B., Staaf, J., Vallon-Christersson, J., Ringnér, M., Gruvberger, S., Saal, L., Holm, K., Hegardt, C., Arason, A., Fagerholm, R., Olsson, C., Grabau, D., Johnsson, E., Lövgren, K., Magnusson, L., Heikkilä, P., Agnarsson, B. A., Johannsson, O. T., Malmström, P., Fernö, M. & 5 othersHåkan Olsson, Niklas Loman, Nevanlinna, H., Barkardottir, R. B. & Åke Borg, 2012, In : Cancer Research. 72, 16, p. 4028-4036

    Research output: Contribution to journalArticle

  26. 2011
  27. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

    Antoniou, A. C., Kartsonaki, C., Sinilnikova, O. M., Soucy, P., McGuffog, L., Healey, S., Lee, A., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Cattaneo, E., Barile, M., Pensotti, V., Pasini, B., Dolcetti, R., Giannini, G., Putignano, A. L., Varesco, L., Radice, P. & 161 othersMai, P. L., Greene, M. H., Andrulis, I. L., Glendon, G., Ozcelik, H., Thomassen, M., Gerdes, A-M., Kruse, T. A., Jensen, U. B., Crueger, D. G., Caligo, M. A., Laitman, Y., Milgrom, R., Kaufman, B., Paluch-Shimon, S., Friedman, E., Niklas Loman, Katja Harbst, Lindblom, A., Arver, B., Ehrencrona, H., Melin, B., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Jakubowska, A., Lubinski, J., Gronwald, J., Huzarski, T., Byrski, T., Cybulski, C., Gorski, B., Osorio, A., Ramon y Cajal, T., Fostira, F., Andres, R., Benitez, J., Hamann, U., Hogervorst, F. B., Rookus, M. A., Hooning, M. J., Nelen, M. R., van der Luijt, R. B., van Os, T. A. M., van Asperen, C. J., Devilee, P., Meijers-Heijboer, H. E. J., Garcia, E. B. G., Peock, S., Cook, M., Frost, D., Platte, R., Leyland, J., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Adlard, J., Davidson, R., Eccles, D., Ong, K., Cook, J., Douglas, F., Paterson, J., Kennedy, M. J., Miedzybrodzka, Z., Godwin, A., Stoppa-Lyonnet, D., Buecher, B., Belotti, M., Tirapo, C., Mazoyer, S., Barjhoux, L., Lasset, C., Leroux, D., Faivre, L., Bronner, M., Prieur, F., Nogues, C., Rouleau, E., Pujol, P., Coupier, I., Frenay, M., Hopper, J. L., Daly, M. B., Terry, M. B., John, E. M., Buys, S. S., Yassin, Y., Miron, A., Goldgar, D., Singer, C. F., Tea, M-K., Pfeiler, G., Dressler, A. C., Hansen, T. V. O., Jonson, L., Ejlertsen, B., Barkardottir, R. B., Kirchhoff, T., Offit, K., Piedmonte, M., Rodriguez, G., Small, L., Boggess, J., Blank, S., Basil, J., Azodi, M., Toland, A. E., Montagna, M., Tognazzo, S., Agata, S., Imyanitov, E., Janavicius, R., Lazaro, C., Blanco, I., Pharoah, P. D. P., Sucheston, L., Karlan, B. Y., Walsh, C. S., Olah, E., Bozsik, A., Teo, S-H., Seldon, J. L., Beattie, M. S., van Rensburg, E. J., Sluiter, M. D., Diez, O., Schmutzler, R. K., Wappenschmidt, B., Engel, C., Meindl, A., Ruehl, I., Varon-Mateeva, R., Kast, K., Deissler, H., Niederacher, D., Arnold, N., Gadzicki, D., Schoenbuchner, I., Caldes, T., de la Hoya, M., Nevanlinna, H., Aittomaki, K., Dumont, M., Chiquette, J., Tischkowitz, M., Chen, X., Beesley, J., Spurdle, A. B., Neuhausen, S. L., Ding, Y. C., Fredericksen, Z., Wang, X., Pankratz, V. S., Couch, F., Simard, J., Easton, D. F., Chenevix-Trench, G., Åke Borg & Håkan Olsson, 2011, In : Human Molecular Genetics. 20, 16, p. 3304-3321

    Research output: Contribution to journalArticle

  28. 2010
  29. Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

    Åke Borg, Haile, R. W., Malone, K. E., Capanu, M., Diep, A., Therese Törngren, Teraoka, S., Begg, C. B., Thomas, D. C., Concannon, P., Mellemkjaer, L., Bernstein, L., Tellhed, L., Xue, S., Olson, E. R., Liang, X., Dolle, J., Børresen-Dale, A-L. & Bernstein, J. L., 2010, In : Human Mutation. 31, p. E1200-E1240

    Research output: Contribution to journalArticle

  30. 2008
  31. Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH).

    Johan Staaf, Törngren, T., Rambech, E., Johansson, U., Olsson, C., Sellberg, G., Tellhed, L., Mef Nilbert & Åke Borg, 2008, In : Human Mutation. 29, 4, p. 555-564

    Research output: Contribution to journalArticle

  32. Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair

    Lao Saal, Sofia Gruvberger, Persson, C., Lövgren, K., Johan Staaf, Göran B Jönsson, Pires, MM., Karolina Holm, Johan Vallon-Christersson, Håkan Olsson, Krogh, M., Isola, J. & Åke Borg, 2008, In : Nature Genetics. 40, 1, p. 102-107

    Research output: Contribution to journalArticle

  33. 2004
  34. One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden

    Malander, S., Ridderheim, M., Måsbäck, A., N Loman, U Kristoffersson, Håkan Olsson, M Nilbert & Åke Borg, 2004 Feb, In : European Journal of Cancer. 40, 3, p. 422-428 7 p.

    Research output: Contribution to journalArticle

  35. 2001
  36. Gene-expression profiles in hereditary breast cancer

    Hedenfalk, I., Duggan, D., Chen, Y., Radmacher, M., Bittner, M., Simon, R., Meltzer, P., Gusterson, B., Esteller, M., Kallioniemi, O. P., Wilfond, B., Borg, Å., Trent, J., Raffeld, M., Yakhini, Z., Ben-Dor, A., Dougherty, E., Kononen, J., Bubendorf, L., Fehrle, W. & 6 othersPittaluga, S., S Gruvberger, N Loman, Johannsson, O., Håkan Olsson & Sauter, G., 2001 Feb 22, In : New England Journal of Medicine. 344, 8, p. 539-48 10 p.

    Research output: Contribution to journalArticle

  37. Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

    J Vallon-Christersson, Cayanan, C., Haraldsson, K., N Loman, Bergthorsson, J. T., Brøndum-Nielsen, K., Gerdes, A. M., Møller, P., U Kristoffersson, Håkan Olsson, Åke Borg & Monteiro, A. N., 2001 Feb 15, In : Human Molecular Genetics. 10, 4, p. 353-60 8 p.

    Research output: Contribution to journalArticle

  38. 1998
  39. BRCA2 germ-line mutations are frequent in male breast cancer patients without a family history of the disease

    Haraldsson, K., N Loman, Zhang, Q-X., Johannsson, O., Håkan Olsson & Åke Borg, 1998 Apr 1, In : Cancer Research. 58, 7, p. 1367-71 5 p.

    Research output: Contribution to journalArticle

  40. 1997
  41. Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer

    Hakansson, S., Johannsson, O., Johansson, U., Sellberg, G., N Loman, Gerdes, A. M., Holmberg, E., Dahl, N., Pandis, N., U Kristoffersson, Håkan Olsson & Åke Borg, 1997 May, In : American Journal of Human Genetics. 60, 5, p. 1068-1078 11 p.

    Research output: Contribution to journalArticle

  42. Distinct somatic genetic changes associated with tumor progression in carriers of BRCA1 and BRCA2 germ-line mutations

    Tirkkonen, M., Johannsson, O., Agnarsson, B. A., Håkan Olsson, Ingvarsson, S., Karhu, R., Tanner, M., Isola, J., Barkardottir, R. B., Åke Borg & Kallioniemi, O. P., 1997 Apr 1, In : Cancer Research. 57, 7, p. 1222-7 6 p.

    Research output: Contribution to journalArticle

  43. 1996
  44. Founding BRCA1 Mutations in Hereditary Breast and Ovarian Cancer in Southern Sweden

    Johannsson, O. T., Ostermeyer, E. A., Hakansson, S., Friedman, L. S., Johansson, U., Sellberg, G., Brondum Nielsen, K., Sele, V., Håkan Olsson, King, M-C. & Åke Borg, 1996, In : American Journal of Human Genetics. 58, 3, p. 441-450

    Research output: Contribution to journalArticle