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Numrering	Referens	Omslagsbild	Hitta
1.	Niemi, MEK, et al. (författare) 2021 swepub:Mat__t
2.	Tabiri, S, et al. (författare) 2021 swepub:Mat__t
3.	Bravo, L, et al. (författare) 2021 swepub:Mat__t
4.	Campbell, PJ, et al. (författare) Pan-cancer analysis of whole genomes 2020 Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82- Tidskriftsartikel (refereegranskat)abstract Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
5.	Fachal, L, et al. (författare) Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes 2020 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 52:1, s. 56-73 Tidskriftsartikel (refereegranskat)
6.	Surendran, Praveen, et al. (författare) Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals 2020 Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 52:12, s. 1314-1332 Tidskriftsartikel (refereegranskat)abstract Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to similar to 1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency <= 0.01) variant BP associations (P < 5 x 10(-8)), of which 32 were in new BP-associated loci and 55 were independent BP-associated single-nucleotide variants within known BP-associated regions. Average effects of rare variants (44% coding) were similar to 8 times larger than common variant effects and indicate potential candidate causal genes at new and known loci (for example, GATA5 and PLCB3). BP-associated variants (including rare and common) were enriched in regions of active chromatin in fetal tissues, potentially linking fetal development with BP regulation in later life. Multivariable Mendelian randomization suggested possible inverse effects of elevated systolic and diastolic BP on large artery stroke. Our study demonstrates the utility of rare-variant analyses for identifying candidate genes and the results highlight potential therapeutic targets.
7.	Feng, HL, et al. (författare) Transcriptome-wide association study of breast cancer risk by estrogen-receptor status 2020 Ingår i: Genetic epidemiology. - : Wiley. - 1098-2272 .- 0741-0395. ; 44:5, s. 442-468 Tidskriftsartikel (refereegranskat)
8.	Zhan, HY, et al. (författare) Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses 2020 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 52:6, s. 572- Tidskriftsartikel (refereegranskat)
9.	Barnes, DR, et al. (författare) Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants 2020 Ingår i: Genetics in medicine : official journal of the American College of Medical Genetics. - : Elsevier BV. - 1530-0366. ; 22:1110, s. 1653-1666 Tidskriftsartikel (refereegranskat)
10.	Patel, VL, et al. (författare) Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness 2020 Ingår i: Cancer research. - 1538-7445. ; 80:3, s. 624-638 Tidskriftsartikel (refereegranskat)

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