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2023
Mark Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer
Öfverholm, Anna ; Törngren, Therese ^LU ; Rosén, Anna ; Arver, Brita ; Einbeigi, Zakaria ; Haraldsson, Karin ^LU ; Ståhlbom, Anne Kinhult ; Kuchinskaya, Ekaterina ; Lindblom, Annika and Melin, Beatrice , et al. (2023) In BMC Cancer 23. p.1-12
- Contribution to journal › Article
Mark Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes
Møller, Nanna Bæk ; Boonen, Desirée Sofie ; Feldner, Elisabeth Simone ; Hao, Qin ; Larsen, Martin ; Lænkholm, Anne Vibeke ; Borg, Åke ^LU ; Kvist, Anders ^LU ; Törngren, Therese ^LU and Jensen, Uffe Birk , et al. (2023) In Scientific Reports 13(1).
- Contribution to journal › Article
2022
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
2021
Mark Precision oncology of high-grade ovarian cancer defined through targeted sequencing
Wessman, Sandra ; Fuentes, Beatriz Bohorquez ; Törngren, Therese ^LU ; Kvist, Anders ^LU ; Kokaraki, Georgia ; Menkens, Hanna ; Hjerpe, Elisabet ; Hugo, Ythalo ; Petta, Tirzah Braz and Borg, Åke ^LU , et al. (2021) In Cancers 13(20).
- Contribution to journal › Article
Mark Breast cancer risk genes - Association analysis in more than 113,000 women
Dorling, Leila ; Valcich, Jeanette ^LU ; Li, Minerva ^LU ; Törngren, Therese ^LU ; Borg, Åke ^LU ; Kvist, Anders ^LU and Easton, Douglas F. (2021) In New England Journal of Medicine 384(5). p.428-439
- Contribution to journal › Article
2019
Mark Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
Parsons, Michael T ; Tudini, Emma ; Li, Hongyan ; Hahnen, Eric ; Wappenschmidt, Barbara ; Feliubadaló, Lidia ; Aalfs, Cora M ; Agata, Simona ; Aittomäki, Kristiina and Alducci, Elisa , et al. (2019) In Human Mutation p.1557-1578
- Contribution to journal › Article
2018
Mark Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication
Pelttari, L. M. ; Shimelis, H. ; Toiminen, H. ; Kvist, A. ^LU ; Törngren, T. ^LU ; Borg, A. ^LU ; Blomqvist, C. ; Bützow, R. ; Couch, F. and Aittomäki, K. , et al. (2018) In Clinical Genetics 93(3). p.595-602
- Contribution to journal › Article
Mark Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
Catucci, Irene ; Osorio, Ana ; Arver, Brita ; Neidhardt, Guido ; Bogliolo, Massimo ; Zanardi, Federica ; Riboni, Mirko ; Minardi, Simone ; Pujol, Roser and Azzollini, Jacopo , et al. (2018) In Genetics in Medicine 20. p.452-457
- Contribution to journal › Article
Mark BRCAsearch : written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer
Nilsson, Martin P. ^LU ; Törngren, Therese ^LU ; Henriksson, Karin ; Kristoffersson, Ulf ^LU ; Kvist, Anders ^LU ; Silfverberg, Barbro ; Borg, Åke ^LU and Loman, Niklas ^LU (2018) In Breast Cancer Research and Treatment 168(1). p.117-126
- Contribution to journal › Article
2017
Mark Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing
Rohlin, Anna ^LU ; Rambech, Eva ^LU ; Kvist, Anders ^LU ; Törngren, Therese ^LU ; Eiengård, Frida ; Lundstam, Ulf ; Zagoras, Theofanis ; Gebre-Medhin, Samuel ^LU ; Borg, Åke ^LU and Björk, Jan , et al. (2017) In Familial Cancer 16(2). p.195-203
- Contribution to journal › Article

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