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Numrering	Referens	Omslagsbild	Hitta
51.	Jiang, X, et al. (författare) Publisher Correction: Shared heritability and functional enrichment across six solid cancers 2019 Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4386- Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract An amendment to this paper has been published and can be accessed via a link at the top of the paper.
52.	Kuchenbaecker, KB, et al. (författare) Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers 2014 Ingår i: Breast cancer research : BCR. - : Springer Science and Business Media LLC. - 1465-542X .- 1465-5411. ; 16:6, s. 3416- Tidskriftsartikel (refereegranskat)
53.	Kuchenbaecker, KB, et al. (författare) Identification of six new susceptibility loci for invasive epithelial ovarian cancer 2015 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:2, s. 164-171 Tidskriftsartikel (refereegranskat)
54.	Vandenput, Liesbeth, 1974, et al. (författare) Update of the fracture risk prediction tool FRAX : a systematic review of potential cohorts and analysis plan 2022 Ingår i: Osteoporosis International. - : Springer. - 0937-941X .- 1433-2965. ; 33:10, s. 2103-2136 Forskningsöversikt (refereegranskat)abstract Summary: We describe the collection of cohorts together with the analysis plan for an update of the fracture risk prediction tool FRAX with respect to current and novel risk factors. The resource comprises 2,138,428 participants with a follow-up of approximately 20 million person-years and 116,117 documented incident major osteoporotic fractures.Introduction: The availability of the fracture risk assessment tool FRAX® has substantially enhanced the targeting of treatment to those at high risk of fracture with FRAX now incorporated into more than 100 clinical osteoporosis guidelines worldwide. The aim of this study is to determine whether the current algorithms can be further optimised with respect to current and novel risk factors.Methods: A computerised literature search was performed in PubMed from inception until May 17, 2019, to identify eligible cohorts for updating the FRAX coefficients. Additionally, we searched the abstracts of conference proceedings of the American Society for Bone and Mineral Research, European Calcified Tissue Society and World Congress of Osteoporosis. Prospective cohort studies with data on baseline clinical risk factors and incident fractures were eligible.Results: Of the 836 records retrieved, 53 were selected for full-text assessment after screening on title and abstract. Twelve cohorts were deemed eligible and of these, 4 novel cohorts were identified. These cohorts, together with 60 previously identified cohorts, will provide the resource for constructing an updated version of FRAX comprising 2,138,428 participants with a follow-up of approximately 20 million person-years and 116,117 documented incident major osteoporotic fractures. For each known and candidate risk factor, multivariate hazard functions for hip fracture, major osteoporotic fracture and death will be tested using extended Poisson regression. Sex- and/or ethnicity-specific differences in the weights of the risk factors will be investigated. After meta-analyses of the cohort-specific beta coefficients for each risk factor, models comprising 10-year probability of hip and major osteoporotic fracture, with or without femoral neck bone mineral density, will be computed.Conclusions: These assembled cohorts and described models will provide the framework for an updated FRAX tool enabling enhanced assessment of fracture risk (PROSPERO (CRD42021227266)).
55.	Coignard, J, et al. (författare) A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers 2021 Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1, s. 1078- Tidskriftsartikel (refereegranskat)abstract Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.
56.	Coignard, J, et al. (författare) Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers 2021 Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1, s. 2986- Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-23162-4
57.	Couch, FJ, et al. (författare) Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers 2012 Ingår i: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. - 1538-7755 .- 1055-9965. ; 21:4, s. 645-657 Tidskriftsartikel (refereegranskat)
58.	Couch, FJ, et al. (författare) Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk 2013 Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404 .- 1553-7390. ; 9:3, s. e1003212- Tidskriftsartikel (refereegranskat)
59.	Darabi, Hatef, et al. (författare) BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers 2016 Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 1460-2105 .- 0027-8874. ; 108:2 Tidskriftsartikel (refereegranskat)
60.	Costa, B, et al. (författare) C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts 2020 Ingår i: Neurology. - 1526-632X .- 0028-3878. ; 95:24, s. E3288-E3302 Tidskriftsartikel (refereegranskat)

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Författare/redaktör: Diez, M (40); Offit, K. (34); Radice, P (33); Nevanlinna, H (33); Osorio, A. (33); Diez, O (33); visa fler...; Hamann, U (32); Chenevix-Trench, G (32); McGuffog, L. (32); Thomassen, M. (32); Montagna, M. (32); Peterlongo, P (31); Andrulis, IL (31); Simard, J (31); Antoniou, AC (31); Olah, E (31); Godwin, AK (31); Neuhausen, SL (31); Greene, MH (31); Benitez, J. (30); Couch, FJ (30); Jakubowska, A (30); Meindl, A (30); Nathanson, KL (30); Easton, DF (29); Singer, CF (29); Barrowdale, D (29); Manoukian, S (28); Toland, AE (28); Stoppa-Lyonnet, D. (28); Caligo, MA (28); Karlan, BY (28); Tischkowitz, M (28); Schmutzler, RK (27); Goldgar, DE (27); Janavicius, R (27); Friedman, E. (26); Lubinski, J (26); Buys, SS (26); John, EM (26); Frost, D. (26); Caldes, T. (26); Garber, J (26); Weitzel, JN (26); Teixeira, MR (25); Rennert, G. (25); Wappenschmidt, B. (25); Engel, C. (25); Domchek, SM (25); Imyanitov, EN (25); visa färre...

Lärosäte: Karolinska Institutet (190); Lunds universitet (79); Uppsala universitet (63); Göteborgs universitet (35); Stockholms universitet (23); Umeå universitet (22); visa fler...; Chalmers tekniska högskola (15); Linköpings universitet (14); Kungliga Tekniska Högskolan (11); RISE (11); Naturhistoriska riksmuseet (10); Linnéuniversitetet (9); Sveriges Lantbruksuniversitet (7); Mittuniversitetet (2); Örebro universitet (1); Jönköping University (1); Malmö universitet (1); Blekinge Tekniska Högskola (1); visa färre...

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Forskningsämne (UKÄ/SCB): Medicin och hälsovetenskap (116); Naturvetenskap (64); Teknik (11); Lantbruksvetenskap (9); Humaniora (4); Samhällsvetenskap (1)

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