Åke Borg

2025

The DNA methylation landscape of primary triple-negative breast cancer

Aine, M., Nacer, D. F., Arbajian, E., Veerla, S., Karlsson, A., Häkkinen, J., Johansson, H. J., Rosengren, F., Vallon-Christersson, J., Borg, Å. & Staaf, J., 2025 Mar 28, In: Nature Communications. 16, p. 1-23 3041.

Research output: Contribution to journal › Article › peer-review

Open Access

Genomic Characteristics Related to Histology-based Immune Features in Breast Cancer

Cha, Y. J., O'Connell, C. E., Calhoun, B. C., Felsheim, B. M., Fernandez-Martinez, A., Fan, C., Brueffer, C., Larsson, C., Borg, Å., Saal, L. H. & Perou, C. M., 2025 Feb 14, (E-pub ahead of print) In: Modern Pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 100736.

Research output: Contribution to journal › Article › peer-review

Open Access

Genomic characterization of the HER2-enriched intrinsic molecular subtype in primary ER-positive HER2-negative breast cancer

Hohmann, L., Sigurjonsdottir, K., Campos, A. B., Nacer, D. F., Veerla, S., Rosengren, F., Reddy, P. T., Häkkinen, J., Nordborg, N., Vallon-Christersson, J., Memari, Y., Black, D., Bowden, R., Davies, H. R., Borg, Å., Nik-Zainal, S. & Staaf, J., 2025, In: Nature Communications. 16, p. 1-17 2208.

Research output: Contribution to journal › Article › peer-review

Open Access

2023

BRCA1 frameshift variants leading to extended incorrect protein C termini

Nepomuceno, T. C., Foo, T. K., Richardson, M. E., Ranola, J. M. O., Weyandt, J., Varga, M. J., Alarcon, A., Gutierrez, D., von Wachenfeldt, A., Eriksson, D., Kim, R., Armel, S., Iversen, E., Couch, F. J., Borg, Å., Xia, B., Carvalho, M. A. & Monteiro, A. N. A., 2023 Oct 12, In: Human Genetics and Genomics Advances. 4, 4, 100240.

Research output: Contribution to journal › Article › peer-review

Open Access

Matched analysis of circulating selenium with the breast cancer selenotranscriptome: a multicentre prospective study

Demircan, K., Bengtsson, Y., Samson Chillon, T., Vallon-Christersson, J., Sun, Q., Larsson, C., Malmberg, M., Saal, L., Ryden, L., Borg, Å., Manjer, J. & Schomburg, L., 2023 Sept 23, In: Journal of Translational Medicine. 658.

Research output: Contribution to journal › Article › peer-review

Open Access

Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer

Öfverholm, A., Törngren, T., Rosén, A., Arver, B., Einbeigi, Z., Haraldsson, K., Ståhlbom, A. K., Kuchinskaya, E., Lindblom, A., Melin, B., Paulsson-Karlsson, Y., Stenmark-Askmalm, M., Tham, E., von Wachenfeldt, A., Kvist, A., Borg, Å. & Ehrencrona, H., 2023 Aug 10, In: BMC Cancer. 23, p. 1-12 738.

Research output: Contribution to journal › Article › peer-review

Open Access

Serum copper, zinc and copper/zinc ratio in relation to survival after breast cancer diagnosis: A prospective multicenter cohort study

Bengtsson, Y., Demircan, K., Vallon-Christersson, J., Malmberg, M., Saal, L., Ryden, L., Borg, Å., Schomburg, L., Sandsveden, M. & Manjer, J., 2023 May 16, In: Redox Biology. 63, 102728.

Research output: Contribution to journal › Article › peer-review

Open Access

Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study

Nacer, D. F., Vallon-Christersson, J., Nordborg, N., Ehrencrona, H., Kvist, A., Borg, Å. & Staaf, J., 2023 Apr 14, In: Genome Medicine. 15, p. 1-20 25.

Research output: Contribution to journal › Article › peer-review

Open Access

Obesity-associated changes in molecular biology of primary breast cancer

Nguyen, H.-L., Borg, A., Desmedt, C. & et al., 2023, In: Nature Communications. 14, 1, 4418.

Research output: Contribution to journal › Article › peer-review

Open Access

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

O’Mahony, D. G., Borg, A., Chung, W. K., HEBON Investigators, GEMO Study Collaborators, AOCS study group, CZECANCA Consortium, Consortium of Investigators of Modifiers of BRCA and BRCA2 & Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium, 2023, In: British Journal of Cancer. 128, p. 2283–2294 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes

Møller, N. B., Boonen, D. S., Feldner, E. S., Hao, Q., Larsen, M., Lænkholm, A. V., Borg, Å., Kvist, A., Törngren, T., Jensen, U. B., Boonen, S. E., Thomassen, M. & Terkelsen, T., 2023, In: Scientific Reports. 13, 1, 8536.

Research output: Contribution to journal › Article › peer-review

Open Access

2022

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

Thomassen, M., Mesman, R. L. S., Hansen, T. V. O., Menendez, M., Rossing, M., Esteban-Sánchez, A., Tudini, E., Törngren, T., Parsons, M. T., Pedersen, I. S., Teo, S. H., Kruse, T. A., Møller, P., Borg, Å., Jensen, U. B., Christensen, L. L., Singer, C. F., Muhr, D., Santamarina, M. & Brandao, R. & 30 others, Andresen, B. S., Feng, B. J., Canson, D., Richardson, M. E., Karam, R., Pesaran, T., LaDuca, H., Conner, B. R., Abualkheir, N., Hoang, L., Calléja, F. M. G. R., Andrews, L., James, P. A., Bunyan, D., Hamblett, A., Radice, P., Goldgar, D. E., Walker, L. C., Engel, C., Claes, K. B. M., Macháčková, E., Baralle, D., Viel, A., Wappenschmidt, B., Lazaro, C., Vega, A., Vreeswijk, M. P. G., de la Hoya, M., Spurdle, A. B. & ENIGMA Consortium, 2022 Dec, In: Human Mutation. 43, 12, p. 1921-1944 24 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort

Svensson, S., Zagoras, T., Aravidis, C., Askmalm, M. S., Björck, E., Borg, Å., Kuchinskaya, E., Nilbert, M., Nordling, M., Rohlin, A., Silander, G., Lagerstedt-Robinson, K. & Gebre-Medhin, S., 2022 Oct, In: Genes Chromosomes and Cancer. 61, 10, p. 585-591 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? A Study of Paired Core-Needle Biopsies and Surgical Specimens in Early Breast Cancer

Saghir, H., Veerla, S., Malmberg, M., Rydén, L., Ehinger, A., Saal, L. H., Vallon-Christersson, J., Borg, Å., Hegardt, C., Larsson, C., Haidar, A., Hedenfalk, I., Loman, N. & Kimbung, S., 2022 Aug 18, In: Cancers. 14, 16, p. 1-16 4000.

Research output: Contribution to journal › Article › peer-review

Open Access

RNA sequencing-based single sample predictors of molecular subtype and risk of recurrence for clinical assessment of early-stage breast cancer

Staaf, J., Häkkinen, J., Hegardt, C., Saal, L. H., Kimbung, S., Hedenfalk, I., Lien, T., Sørlie, T., Naume, B., Russnes, H., Marcone, R., Ayyanan, A., Brisken, C., Malterling, R. R., Asking, B., Olofsson, H., Lindman, H., Bendahl, P.-O., Ehinger, A. & Larsson, C. & 5 others, Loman, N., Rydén, L., Malmberg, M., Borg, Å. & Vallon-Christersson, J., 2022 Aug 16, In: npj Breast Cancer. 8, p. 1-17 94.

Research output: Contribution to journal › Article › peer-review

Open Access

Autoimmunity to selenoprotein P predicts breast cancer recurrence

Demircan, K., Sun, Q., Bengtsson, Y., Seemann, P., Vallon-Christersson, J., Malmberg, M., Saal, L., Ryden, L., Minich, W. B., Borg, Å., Manjer, J. & Schomburg, L., 2022 May 25, In: Redox Biology. 53, 102346.

Research output: Contribution to journal › Article › peer-review

Open Access

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

Li, S., Borg, Å., Antoniou, A. C. & et al., 2022 May 10, In: Journal of Clinical Oncology. 40, 14, p. 1529-1541 13 p.

Research output: Contribution to journal › Article › peer-review

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Barnes, D. R., Borg, A., Ottini, L. & et al., 2022, In: Journal of the National Cancer Institute. 114, 1, p. 109-122 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Interval breast cancer is associated with interferon immune response

Ugalde-Morales, E., Grassmann, F., Humphreys, K., Li, J., Eriksson, M., Tobin, N. P., Lindström, L. S., Vallon-Christersson, J., Borg, Å., Hall, P. & Czene, K., 2022, In: European Journal of Cancer. 162, p. 194-205 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

Li, H., Borg, Å., Goldgar, D. E., ENIGMA Consortium & CIMBA Consortium, 2022, In: Genetics in Medicine. 24, 1, p. 119-129

Research output: Contribution to journal › Article › peer-review

2021

Sample preparation approach influences pam50 risk of recurrence score in early breast cancer

Lien, T. G., Ohnstad, H. O., Lingjærde, O. C., Vallon-Christersson, J., Aaserud, M., Sveli, M. A. T., Borg, Å., Garred, Ø., Borgen, E., Naume, B., Russnes, H., Sørlie, T. & on behalf of OSBREAC, 2021 Dec, In: Cancers. 13, 23, 6118.

Research output: Contribution to journal › Article › peer-review

Open Access

Precision oncology of high-grade ovarian cancer defined through targeted sequencing

Wessman, S., Fuentes, B. B., Törngren, T., Kvist, A., Kokaraki, G., Menkens, H., Hjerpe, E., Hugo, Y., Petta, T. B., Borg, Å. & Carlson, J. W., 2021 Oct 1, In: Cancers. 13, 20, 5240.

Research output: Contribution to journal › Article › peer-review

Open Access

A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients

Wendt, C., Muranen, T. A., Mielikäinen, L., Thutkawkorapin, J., Blomqvist, C., Jiao, X., Ehrencrona, H., Tham, E., Arver, B., Melin, B., Kuchinskaya, E., Stenmark Askmalm, M., Paulsson-Karlsson, Y., Einbeigi, Z., von Wachenfeldt Väppling, A., Kalso, E., Tasmuth, T., Kallioniemi, A., Aittomäki, K. & Nevanlinna, H. & 2 others, Borg, Å. & Lindblom, A., 2021 Jul 20, In: Scientific Reports. 11, p. 1-9 14763.

Research output: Contribution to journal › Article › peer-review

Open Access

Preexisting Somatic Mutations of Estrogen Receptor Alpha (ESR1) in Early-Stage Primary Breast Cancer

Dahlgren, M., George, A., Brueffer, C., Gladchuk, S., Chen, Y., Vallon-Christersson, J., Hegardt, C., Häkkinen, J., Ryden, L., Malmberg, M., Larsson, C., Gruvberger, S., Ehinger, A., Loman, N., Borg, Å. & Saal, L., 2021 Apr 22, In: JNCI Cancer Spectrum. 5, 2, pkab028.

Research output: Contribution to journal › Article › peer-review

Open Access

Distinct mechanisms of resistance to fulvestrant treatment dictate level of ER independence and selective response to CDK inhibitors in metastatic breast cancer

Kaminska, K., Akrap, N., Staaf, J., Alves, C. L., Ehinger, A., Ebbesson, A., Hedenfalk, I., Beumers, L., Veerla, S., Harbst, K., Ehmsen, S., Borgquist, S., Borg, Å., Pérez-Fidalgo, A., Ditzel, H. J., Bosch, A. & Honeth, G., 2021 Feb 18, In: Breast cancer research : BCR. 23, 1, p. 26

Research output: Contribution to journal › Article › peer-review

Open Access

Association between breast cancer risk and disease aggressiveness: Characterizing underlying gene expression patterns

Ugalde-Morales, E., Grassmann, F., Humphreys, K., Li, J., Eriksson, M., Tobin, N. P., Borg, Å., Vallon-Christersson, J., Hall, P. & Czene, K., 2021 Feb 15, In: International Journal of Cancer. 148, 4, p. 884-894 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Molecular analyses of triple-negative breast cancer in the young and elderly

Aine, M., Boyaci, C., Hartman, J., Häkkinen, J., Mitra, S., Campos, A. B., Nimeus, E., Ehinger, A., Vallon-Christersson, J., Borg, Å. & Staaf, J., 2021 Feb 10, In: Breast cancer research : BCR. 23, 1, 20.

Research output: Contribution to journal › Article › peer-review

Open Access

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

et al., Coignard, J., Augustinsson, A., Olsson, H., Borg, Å. & Antoniou, A. C., 2021, In: Nature Communications. 12, 1, 1078.

Research output: Contribution to journal › Article › peer-review

Open Access

Breast cancer risk genes - Association analysis in more than 113,000 women

Dorling, L., Valcich, J., Li, M., Törngren, T., Borg, Å., Kvist, A. & Easton, D. F., 2021, In: New England Journal of Medicine. 384, 5, p. 428-439 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

CDKN2A genetic testing in melanoma-prone families in Sweden in the years 2015-2020: implications for novel national recommendations

Pissa, M., Helkkula, T., Appelqvist, F., Silander, G., Borg, Å., Pettersson, J., Lapins, J., Nielsen, K., Höiom, V. & Helgadottir, H., 2021, In: Acta oncologica (Stockholm, Sweden). 60, 7, p. 888-896 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Serum selenium, selenoprotein P and glutathione peroxidase 3 as predictors of mortality and recurrence following breast cancer diagnosis: A multicentre cohort study

Demircan, K., Bengtsson, Y., Sun, Q., Brange, A., Vallon-Christersson, J., Rijntjes, E., Malmberg, M., Saal, L., Ryden, L., Borg, Å., Manjer, J. & Schomburg, L., 2021, In: Redox Biology. 47, p. 1-12 102145.

Research output: Contribution to journal › Article › peer-review

Open Access

Spatial deconvolution of HER2-positive breast cancer delineates tumor-associated cell type interactions

Andersson, A., Larsson, L., Stenbeck, L., Salmén, F., Ehinger, A., Wu, S. Z., Al-Eryani, G., Roden, D., Swarbrick, A., Borg, Å., Frisén, J., Engblom, C. & Lundeberg, J., 2021, In: Nature Communications. 12, 6012.

Research output: Contribution to journal › Article › peer-review

Open Access

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Lakeman, I. M. M., Borg, Å., Schmidt, M. K., GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators & KConFab Investigators, 2021, In: Genetics in Medicine. 23, 9, p. 1726-1737 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

The spatial RNA integrity number assay for in situ evaluation of transcriptome quality

Kvastad, L., Carlberg, K., Larsson, L., Villacampa, E. G., Stuckey, A., Stenbeck, L., Mollbrink, A., Zamboni, M., Magnusson, J. P., Basmaci, E., Shamikh, A., Prochazka, G., Schaupp, A. L., Borg, Å., Fugger, L., Nistér, M. & Lundeberg, J., 2021, In: Communications Biology. 4, 1, 57.

Research output: Contribution to journal › Article › peer-review

Open Access

2020

Breast cancer survival in Nordic BRCA2 mutation carriers—unconventional association with oestrogen receptor status

Olafsdottir, E. J., Borg, A., Jensen, M. B., Gerdes, A. M., Johansson, A. L. V., Barkardottir, R. B., Johannsson, O. T., Ejlertsen, B., Sønderstrup, I. M. H., Hovig, E., Lænkholm, A. V., Hansen, T. V. O., Olafsdottir, G. H., Rossing, M., Jonasson, J. G., Sigurdsson, S., Loman, N., Nilsson, M. P., Narod, S. A. & Tryggvadottir, L., 2020 Nov 24, In: British Journal of Cancer. 123, 11, p. 1608-1615 8 p.

Research output: Contribution to journal › Article › peer-review

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Bailey, M. H., Meyerson, W. U., Dursi, L. J., Wang, L. B., Dong, G., Liang, W. W., Weerasinghe, A., Li, S., Kelso, S., Saksena, G., Ellrott, K., Wendl, M. C., Wheeler, D. A., Getz, G., Simpson, J. T., Gerstein, M. B., Ding, L., Borg, A. (Contributor), Ehinger, A. (Contributor) & Glodzik, D. (Contributor) & 8 others, Grabau, D. (Contributor), Huang, M. N. (Contributor), Li, C. (Contributor), Ringnér, M. (Contributor), Staaf, J. (Contributor), MC3 Working Group, PCAWG novel somatic mutation calling methods working group & PCAWG Consortium, 2020 Sept 21, In: Nature Communications. 11, 1, 4748.

Research output: Contribution to journal › Article › peer-review

Open Access

The mutational landscape of the SCAN‐B real‐world primary breast cancer transcriptome

Brueffer, C., Gladchuk, S., Winter, C., Vallon-Christersson, J., Hegardt, C., Häkkinen, J., George, A., Chen, Y., Ehinger, A., Larsson, C., Loman, N., Malmberg, M., Ryden, L., Borg, Å. & Saal, L., 2020 Sept 14, In: EMBO Molecular Medicine. 12, 10, e12118.

Research output: Contribution to journal › Article › peer-review

Open Access

Sex differences in oncogenic mutational processes

Li, C. H., Prokopec, S. D., Sun, R. X., Yousif, F., Schmitz, N., Al-Shahrour, F., Atwal, G., Bailey, P. J., Biankin, A. V., Boutros, P. C., Campbell, P. J., Chang, D. K., Cooke, S. L., Deshpande, V., Faltas, B. M., Faquin, W. C., Garraway, L., Getz, G., Grimmond, S. M. & Haider, S. & 31 others, Hoadley, K. A., Jiao, W., Kaiser, V. B., Karlić, R., Kato, M., Kübler, K., Lazar, A. J., Wright, D. W., Borg, A., Davis, I. J., Ehinger, A., Glodzik, D., Grabau, D., Huang, M. N., Johansson, P. A., Larsson, E., Li, C., Li, H. I., Li, J., Möller, P., Ringnér, M., Song, L., Staaf, J., Wang, J., Wang, Q., Yang, Y., Zhang, F., Zhang, J., Zhang, Y., PCAWG Tumour Subtypes and Clinical Translation & PCAWG Consortium, 2020 Aug 28, In: Nature Communications. 11, 24 p., 4330.

Research output: Contribution to journal › Article › peer-review

Open Access

Integrating spatial gene expression and breast tumour morphology via deep learning

He, B., Bergenstråhle, L., Stenbeck, L., Abid, A., Andersson, A., Borg, Å., Maaskola, J., Lundeberg, J. & Zou, J., 2020 Aug, In: Nature Biomedical Engineering. 4, 8, p. 827-834 8 p.

Research output: Contribution to journal › Article › peer-review

Prognostic implications of the expression levels of different immunoglobulin heavy chain-encoding RNAs in early breast cancer

Larsson, C., Ehinger, A., Winslow, S., Leandersson, K., Klintman, M., Dahl, L., Vallon-christersson, J., Häkkinen, J., Hegardt, C., Manjer, J., Saal, L., Rydén, L., Malmberg, M., Borg, Å. & Loman, N., 2020 Jul 6, In: npj Breast Cancer. 6, 1, 28.

Research output: Contribution to journal › Article › peer-review

Open Access

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.

Feng, H., Borg, Å., Olsson, H., GEMO Study Collaborators, EMBRACE Collaborators, GC-HBOC Study Collaborators & Ellberg, C., 2020 Jul, In: Genetic Epidemiology. 44, 5, p. 442-468 27 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Analysis of fusion transcripts indicates widespread deregulation of snoRNAs and their host genes in breast cancer

Persson, H., Søkilde, R., Häkkinen, J., Vallon-Christersson, J., Mitelman, F., Borg, Å., Höglund, M. & Rovira, C., 2020 Jun 15, In: International Journal of Cancer. 146, 12, p. 3343-3353 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Cancer risks associated with germline PALB2 pathogenic variants: An international study of 524 families

Yang, X., Leslie, G., Doroszuk, A., Schneider, S., Allen, J., Decker, B., Dunning, A. M., Redman, J., Scarth, J., Plaskocinska, I., Luccarini, C., Shah, M., Pooley, K., Dorling, L., Leei, A., Adank, M. A., Adlard, J., Aittomäki, K., Andrulis, I. L. & Ang, P. & 99 others, Barwell, J., Bernstein, J. L., Bobolis, K., Borg, Å., Blomqvist, C., Claes, K. B. M., Concannon, P., Cuggia, A., Culver, J. O., Damiola, F., De Pauw, A., Diez, O., Dolinsky, J. S., Domchek, S. M., Engel, C., Evans, D. G., Fostira, F., Garber, J., Golmard, L., Goode, E. L., Gruber, S. B., Hahnen, E., Hake, C., Heikkinen, T., Hurley, J. E., Janavicius, R., Kleibl, Z., Kleiblova, P., Konstantopoulou, I., Kvist, A., Laduca, H., Lee, A. S. G., Lesueur, F., Maher, E. R., Mannermaa, A., Manoukian, S., McFarland, R., McKinnon, W., Meindl, A., Metcalfe, K., Taib, N. A. M., Moilanen, J., Nathanson, K. L., Neuhausen, S., Ng, P. S., Nguyen-Dumont, T., Nielsen, S. M., Obermair, F., Offit, K., Olopade, O. I., Ottini, L., Penkert, J., Pylkäs, K., Goldgar, D., Ramus, S. J., Rudaitis, V., Side, L., Silva-Smith, R., Silvestri, V., Skytte, A. B., Slavin, T., Soukupova, J., Tondini, C., Trainer, A. H., Unzeitig, G., Usha, L., Van Overeem Hansen, T., Whitworth, J., Wood, M., Yip, C. H., Yoon, S. Y., Yussuf, A., Zogopoulos, G., Radice, P., Hopper, J. L., Chenevix-Trench, G., Pharoah, P., George, S. H. L., Balmaña, J., Houdayer, C., James, P., El-Haffaf, Z., Ehrencrona, H., Janatova, M., Peterlongo, P., Nevanlinna, H., Schmutzler, R., Teo, S. H., Robson, M., Pal, T., Couch, F., Weitzel, J. N., Elliott, A., Southey, M., Winqvist, R., Easton, D. F., Foulkes, W. D., Antoniou, A. C. & Tischkowitz, M., 2020 Mar 1, In: Journal of Clinical Oncology. 38, 7, p. 674-685

Research output: Contribution to journal › Article › peer-review

Open Access

Butler enables rapid cloud-based analysis of thousands of human genomes

Yakneen, S., Waszak, S. M., Gertz, M., Korbel, J. O., Borg, Å. (Contributor), Ringnér, M. (Contributor), Staaf, J. (Contributor), PCAWG Technical Working Group & PCAWG Consortium, 2020 Mar, In: Nature Biotechnology. 38, 3, p. 288-292

Research output: Contribution to journal › Article › peer-review

Open Access

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Cortés-Ciriano, I., Lee, J.J.-K., Xi, R., Jain, D., Jung, Y. L., Yang, L., Gordenin, D., Klimczak, L. J., Zhang, C.-Z., Pellman, D. S., Park, P. J., Borg, Å. (Contributor), Ringnér, M. (Contributor), Staaf, J. (Contributor), PCAWG-Structural Variation Working Group & PCAWG Consortium, 2020 Mar, In: Nature Genetics. 52, 3, p. 331-341

Research output: Contribution to journal › Article › peer-review

Open Access

Comprehensive molecular characterization of mitochondrial genomes in human cancers

Yuan, Y., Ju, Y. S., Kim, Y., Li, J., Wang, Y., Yoon, C. J., Yang, Y., Martincorena, I., Creighton, C. J., Weinstein, J. N., Xu, Y., Han, L., Kim, H.-L., Nakagawa, H., Park, K., Campbell, P. J., Liang, H., Borg, Å. (Contributor), Ringnér, M. (Contributor) & Staaf, J. (Contributor) & 1 others, PCAWG Consortium, 2020 Mar, In: Nature Genetics. 52, 3, p. 342-352

Research output: Contribution to journal › Article › peer-review

Open Access

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

Akdemir, K. C., Le, V. T., Chandran, S., Li, Y., Verhaak, R. G., Beroukhim, R., Campbell, P. J., Chin, L., Dixon, J. R., Futreal, P. A., Borg, Å. (Contributor), Ringnér, M. (Contributor), Staaf, J. (Contributor), PCAWG-Structural Variation Working Group & PCAWG Consortium, 2020 Mar, In: Nature Genetics. 52, 3, p. 294-305

Research output: Contribution to journal › Article › peer-review

Open Access

Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

Rodriguez-Martin, B., Alvarez, E. G., Baez-Ortega, A., Zamora, J., Supek, F., Demeulemeester, J., Santamarina, M., Ju, Y. S., Temes, J., Garcia-Souto, D., Detering, H., Li, Y., Rodriguez-Castro, J., Dueso-Barroso, A., Bruzos, A. L., Dentro, S. C., Blanco, M. G., Contino, G., Ardeljan, D. & Tojo, M. & 36 others, Roberts, N. D., Zumalave, S., Edwards, P. A., Weischenfeldt, J., Puiggròs, M., Chong, Z., Chen, K., Lee, E. A., Wala, J. A., Raine, K. M., Butler, A., Waszak, S. M., Navarro, F. C. P., Schumacher, S. E., Monlong, J., Maura, F., Bolli, N., Bourque, G., Gerstein, M., Park, P. J., Wedge, D. C., Beroukhim, R., Torrents, D., Korbel, J. O., Martincorena, I., Fitzgerald, R. C., Van Loo, P., Kazazian, H. H., Burns, K. H., Campbell, P. J., Borg, Å. (Contributor), Tubio, J. M. C., Ringnér, M. (Contributor), Staaf, J. (Contributor), PCAWG-Structural Variation Working Group & PCAWG Consortium, 2020 Mar, In: Nature Genetics. 52, 3, p. 306-319

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Open Access

The landscape of viral associations in human cancers

Zapatka, M., Borozan, I., Brewer, D. S., Iskar, M., Grundhoff, A., Alawi, M., Desai, N., Sültmann, H., Moch, H., Cooper, C. S., Eils, R., Ferretti, V., Lichter, P., Borg, Å. (Contributor), Ringnér, M. (Contributor), Staaf, J. (Contributor), PCAWG Pathogens & PCAWG Consortium, 2020 Mar, In: Nature Genetics. 52, 3, p. 320-330

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Open Access

A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns

Jiao, W., Atwal, G., Polak, P., Karlic, R., Cuppen, E., Danyi, A., de Ridder, J., van Herpen, C., Lolkema, M. P., Steeghs, N., Getz, G., Morris, Q. D., Stein, L. D., Al-Shahrour, F., Zhang, J., Borg, Å. (Contributor), Ringnér, M. (Contributor), Staaf, J. (Contributor), PCAWG Tumor Subtypes and Clinical Translation Working Group & PCAWG Consortium, 2020 Feb 5, In: Nature Communications. 11, 12 p., 728.

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Open Access

Åke Borg

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