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2023
Mark BRCA1 frameshift variants leading to extended incorrect protein C termini
Nepomuceno, Thales C. ; Foo, Tzeh Keong ; Richardson, Marcy E. ; Ranola, John Michael O. ; Weyandt, Jamie ; Varga, Matthew J. ; Alarcon, Amaya ; Gutierrez, Diana ; von Wachenfeldt, Anna and Eriksson, Daniel , et al. (2023) In Human Genetics and Genomics Advances 4(4).
- Contribution to journal › Article
2022
Mark 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, Åke ^LU and Goldgar, David E. (2022) In Genetics in Medicine 24(1). p.119-129
- Contribution to journal › Article
Mark Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
Thomassen, Mads ; Mesman, Romy L.S. ; Hansen, Thomas V.O. ; Menendez, Mireia ; Rossing, Maria ; Esteban-Sánchez, Ada ; Tudini, Emma ; Törngren, Therese ^LU ; Parsons, Michael T. and Pedersen, Inge S. , et al. (2022) In Human Mutation 43(12). p.1921-1944
- Contribution to journal › Article
Mark Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield : Results from a nationwide prospective cohort
Svensson, Sara ^LU ; Zagoras, Theofanis ; Aravidis, Christos ; Askmalm, Marie Stenmark ^LU ; Björck, Erik ; Borg, Åke ^LU ; Kuchinskaya, Ekaterina ; Nilbert, Mef ^LU ; Nordling, Margareta and Rohlin, Anna , et al. (2022) In Genes Chromosomes and Cancer 61(10). p.585-591
- Contribution to journal › Article
2021
Mark A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Coignard, Juliette ; Augustinsson, Annelie ^LU ; Olsson, Håkan ^LU ; Borg, Åke ^LU and Antoniou, Antonis C (2021) In Nature Communications 12(1).
- Contribution to journal › Article
Mark Spatial deconvolution of HER2-positive breast cancer delineates tumor-associated cell type interactions
Andersson, Alma ; Larsson, Ludvig ; Stenbeck, Linnea ; Salmén, Fredrik ; Ehinger, Anna ^LU ; Wu, Sunny Z. ; Al-Eryani, Ghamdan ; Roden, Daniel ; Swarbrick, Alex and Borg, Åke ^LU , et al. (2021) In Nature Communications 12.
- Contribution to journal › Article
2020
Mark Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
Feng, Helian ; Borg, Åke ^LU ; Olsson, Håkan ^LU and Ellberg, Carolina ^LU (2020) In Genetic Epidemiology 44(5). p.442-468
- Contribution to journal › Article
Mark Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Fachal, Laura ; Borg, Åke ^LU ; Olsson, Håkan ^LU and Dunning, Alison M (2020) In Nature Genetics 52(1). p.56-73
- Contribution to journal › Article
Mark Comprehensive molecular comparison of BRCA1 hypermethylated and BRCA1 mutated triple negative breast cancers
Glodzik, Dominik ^LU ; Bosch, Ana ^LU ; Hartman, Johan ; Aine, Mattias ^LU ; Vallon-Christersson, Johan ^LU ; Reuterswärd, Christel ^LU ; Karlsson, Anna ^LU ; Mitra, Shamik ^LU ; Niméus, Emma ^LU and Holm, Karolina ^LU , et al. (2020) In Nature Communications 11(1).
- Contribution to journal › Article
Mark The Mutational Landscape of the SCAN-B Real-World Primary Breast Cancer Transcriptome
Brueffer, Christian ^LU ; Gladchuk, Sergii ^LU ; Winter, Christof ^LU ; Vallon-Christersson, Johan ^LU ; Hegardt, Cecilia ^LU ; Häkkinen, Jari ^LU ; George, Anthony ^LU ; Chen, Yilun ^LU ; Ehinger, Anna ^LU and Larsson, Christer ^LU , et al. (2020)
- Working paper/Preprint › Preprint in preprint archive

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