Anne-Lise Børresen-Dale

• Fleischer, Thomas; Haugen, Mads; Ankill, Jørgen; Silwal-Pandit, Laxmi; Børresen-Dale, Anne-Lise & Hedenfalk, Ingrid [Show all 10 contributors for this article] (2024). An integrated omics approach highlights how epigenetic events can explain and predict response to neoadjuvant chemotherapy and bevacizumab in breast cancer. Molecular Oncology. ISSN 1574-7891. doi: 10.1002/1878-0261.13656.
• Morra, Anna; Schreurs, Maartje A. C.; Andrulis, Irene L.; Anton-Culver, Hoda; Augustinsson, Annelie & Beckmann, Matthias W. [Show all 125 contributors for this article] (2023). Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival. Cancer Medicine. ISSN 2045-7634. 12(15), p. 16142–16162. doi: 10.1002/cam4.6272. Full text in Research Archive
• Nygaard, Vigdis; Ree, Anne Hansen; Dagenborg, Vegar Johansen; Børresen-Dale, Anne-Lise; Edwin, Bjørn von Gohren & Fretland, Åsmund Avdem [Show all 10 contributors for this article] (2023). A PRRX1 Signature Identifies TIM-3 and VISTA as Potential Immune Checkpoint Targets in a Subgroup of Microsatellite Stable Colorectal Cancer Liver Metastases. Cancer Research Communications. ISSN 2767-9764. 3(2), p. 235–244. doi: 10.1158/2767-9764.CRC-22-0295. Full text in Research Archive
• Levi, Hagai; Carmi, Shai; Rosset, Saharon; Yerushalmi, Rinat; Zick, Aviad & Yablonski-Peretz, Tamar [Show all 155 contributors for this article] (2023). Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel. Journal of Medical Genetics. ISSN 0022-2593. 60(12), p. 1186–1197. doi: 10.1136/jmg-2023-109185. Full text in Research Archive
• Figlioli, Gisella; Billaud, Amandine; Wang, Qin; Bolla, Manjeet K.; Dennis, Joe & Lush, Michael [Show all 96 contributors for this article] (2023). Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases. Cancers. ISSN 2072-6694. 15(13). doi: 10.3390/cancers15133313. Full text in Research Archive
• Figlioli, Gisella; Billaud, Amandine; Ahearn, Thomas U.; Antonenkova, Natalia N.; Becher, Heiko & Beckmann, Matthias W. [Show all 114 contributors for this article] (2023). FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women. European Journal of Human Genetics. ISSN 1018-4813. 31(5), p. 578–587. doi: 10.1038/s41431-022-01257-w. Full text in Research Archive Show summary

  Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry. Sixteen common MVs were tested individually; the remaining rare 673 MVs were tested by burden analyses considering their position and pathogenicity score. We also conducted a meta-analysis of our results and those from published studies. We did not find evidence for association for any of the 16 variants individually tested. The rare MVs were significantly associated with increased risk of ER-negative breast cancer by burden analysis comparing familial cases to controls (OR = 1.48; 95% CI 1.07–2.04; P = 0.017). Higher ORs were found for the subgroup of MVs located in functional domains or predicted to be pathogenic. The meta-analysis indicated that FANCM MVs overall are associated with breast cancer risk (OR = 1.22; 95% CI 1.08–1.38; P = 0.002). Our results support the definition from previous analyses of FANCM as a moderate-risk breast cancer gene and provide evidence that FANCM MVs could be low/moderate risk factors for ER-negative and TNBC subtypes. Further genetic and functional analyses are necessary to clarify better the increased risks due to FANCM MVs

• Morra, Anna; Mavaddat, Nasim; Muranen, Taru A.; Ahearn, Thomas U.; Allen, Jamie & Andrulis, Irene L. [Show all 84 contributors for this article] (2023). The impact of coding germline variants on contralateral breast cancer risk and survival. American Journal of Human Genetics. ISSN 0002-9297. 110(3), p. 475–486. doi: 10.1016/j.ajhg.2023.02.003. Full text in Research Archive
• Mueller, Stefanie H.; Lai, Alvina G.; Valkovskaya, Maria; Michailidou, Kyriaki; Bolla, Manjeet K. & Wang, Qin [Show all 207 contributors for this article] (2023). Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry. Genome Medicine. ISSN 1756-994X. 15(7). doi: 10.1186/s13073-022-01152-5. Full text in Research Archive
• Dixon-Suen, Suzanne C.; Lewis, Sarah; Martin, Richard M.; English, Dallas R.; Boyle, Terry & Giles, Graham G. [Show all 174 contributors for this article] (2022). Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study. British Journal of Sports Medicine. ISSN 0306-3674. 56(20), p. 1157–1170. doi: 10.1136/bjsports-2021-105132. Show summary

  Objectives Physical inactivity and sedentary behaviour are associated with higher breast cancer risk in observational studies, but ascribing causality is difficult. Mendelian randomisation (MR) assesses causality by simulating randomised trial groups using genotype. We assessed whether lifelong physical activity or sedentary time, assessed using genotype, may be causally associated with breast cancer risk overall, pre/post-menopause, and by case-groups defined by tumour characteristics. Methods We performed two-sample inverse-variance-weighted MR using individual-level Breast Cancer Association Consortium case-control data from 130 957 European-ancestry women (69 838 invasive cases), and published UK Biobank data (n=91 105–377 234). Genetic instruments were single nucleotide polymorphisms (SNPs) associated in UK Biobank with wrist-worn accelerometer-measured overall physical activity (nsnps=5) or sedentary time (nsnps=6), or accelerometer-measured (nsnps=1) or self-reported (nsnps=5) vigorous physical activity. Results Greater genetically-predicted overall activity was associated with lower breast cancer overall risk (OR=0.59; 95% confidence interval (CI) 0.42 to 0.83 per-standard deviation (SD;~8 milligravities acceleration)) and for most case-groups. Genetically-predicted vigorous activity was associated with lower risk of pre/perimenopausal breast cancer (OR=0.62; 95% CI 0.45 to 0.87,≥3 vs. 0 self-reported days/week), with consistent estimates for most case-groups. Greater genetically-predicted sedentary time was associated with higher hormone-receptor-negative tumour risk (OR=1.77; 95% CI 1.07 to 2.92 per-SD (~7% time spent sedentary)), with elevated estimates for most case-groups. Results were robust to sensitivity analyses examining pleiotropy (including weighted-median-MR, MR-Egger). Conclusion Our study provides strong evidence that greater overall physical activity, greater vigorous activity, and lower sedentary time are likely to reduce breast cancer risk. More widespread adoption of active lifestyles may reduce the burden from the most common cancer in women.

• Castro Mondragon, Jaime Abraham; Aure, Miriam Ragle; Lingjærde, Ole Christian; Langerød, Anita; Martens, John WM & Børresen-Dale, Anne-Lise [Show all 8 contributors for this article] (2022). Cis-regulatory mutations associate with transcriptional and post-transcriptional deregulation of gene regulatory programs in cancers. Nucleic Acids Research (NAR). ISSN 0305-1048. 50(21), p. 12131–12148. doi: 10.1093/nar/gkac1143. Full text in Research Archive
• Dorling, Leila; Carvalho, Sara; Allen, Jamie; Parsons, Michael T.; Fortuno, Cristina & Kristensen, Vessela N. [Show all 50 contributors for this article] (2022). Breast cancer risks associated with missense variants in breast cancer susceptibility genes. Genome Medicine. ISSN 1756-994X. 14(1), p. 1–17. doi: 10.1186/s13073-022-01052-8. Full text in Research Archive Show summary

  Background: Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. Methods: We analyzed data on 59,639 breast cancer cases and 53,165 controls from studies participating in the Breast Cancer Association Consortium BRIDGES project. We sampled training (80%) and validation (20%) sets to ana‑ lyze rare missense variants in ATM (1146 training variants), BRCA1 (644), BRCA2 (1425), CHEK2 (325), and PALB2 (472). We evaluated breast cancer risks according to fve in silico prediction-of-deleteriousness algorithms, functional protein domain, and frequency, using logistic regression models and also mixture models in which a subset of variants was assumed to be risk-associated. Results: The most predictive in silico algorithms were Helix (BRCA1, BRCA2 and CHEK2) and CADD (ATM). Increased risks appeared restricted to functional protein domains for ATM (FAT and PIK domains) and BRCA1 (RING and BRCT domains). For ATM, BRCA1, and BRCA2, data were compatible with small subsets (approximately 7%, 2%, and 0.6%, respectively) of rare missense variants giving similar risk to those of protein truncating variants in the same gene. For CHEK2, data were more consistent with a large fraction (approximately 60%) of rare missense variants giving a lower risk (OR 1.75, 95% CI (1.47–2.08)) than CHEK2 protein truncating variants. There was little evidence for an association with risk for missense variants in PALB2. The best ftting models were well calibrated in the validation set. Conclusions: These results will inform risk prediction models and the selection of candidate variants for functional assays and could contribute to the clinical reporting of gene panel testing for breast cancer susceptibility

• Bjørklund, Sunniva; Aure, Miriam Ragle; Häkkinen, Jari; Vallon-Christersson, Johan; Kumar, Surendra & Bull Evensen, Katrine [Show all 34 contributors for this article] (2022). Subtype and cell type specific expression of lncRNAs provide insight into breast cancer. Communications Biology. ISSN 2399-3642. 5(1), p. 1–14. doi: 10.1038/s42003-022-03559-7. Full text in Research Archive
• Dennis, Joe; Tyrer, Jonathan P.; Walker, Logan C.; Michailidou, Kyriaki; Dorling, Leila & Kristensen, Vessela N. [Show all 50 contributors for this article] (2022). Rare germline copy number variants (CNVs) and breast cancer risk. Communications Biology. ISSN 2399-3642. 5, p. 1–15. doi: 10.1038/s42003-021-02990-6. Full text in Research Archive Show summary

  Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding regions for 86,788 breast cancer cases and 76,122 controls of European ancestry with genome-wide array data. Gene burden tests detected the strongest association for deletions in BRCA1 (P = 3.7E−18). Nine other genes were associated with a p-value < 0.01 including known susceptibility genes CHEK2 (P = 0.0008), ATM (P = 0.002) and BRCA2 (P = 0.008). Outside the known genes we detected associations with p-values < 0.001 for either overall or subtype-specific breast cancer at nine deletion regions and four duplication regions. Three of the deletion regions were in established common susceptibility loci. To the best of our knowledge, this is the first genome-wide analysis of rare CNVs in a large breast cancer case-control dataset. We detected associations with exonic deletions in established breast cancer susceptibility genes. We also detected suggestive associations with non-coding CNVs in known and novel loci with large effects sizes. Larger sample sizes will be required to reach robust levels of statistical significance.

• Ahearn, Thomas U.; Zhang, Haoyu; Michailidou, Kyriaki; Milne, Roger L.; Bolla, Manjeet K. & Dennis, Joe [Show all 205 contributors for this article] (2022). Common variants in breast cancer risk loci predispose to distinct tumor subtypes. Breast Cancer Research. ISSN 1465-5411. 24(1), p. 1–13. doi: 10.1186/s13058-021-01484-x. Full text in Research Archive
• Dorling, Leila; Carvalho, Sara; Allen, Jamie; González-Neira, Anna; Luccarini, Craig & Wahlström, Cecilia [Show all 176 contributors for this article] (2021). Breast cancer risk genes - Association analysis in more than 113,000 women. New England Journal of Medicine. ISSN 0028-4793. 384(5), p. 428–439. doi: 10.1056/NEJMoa1913948.
• Park, Hanla A.; Neumeyer, Sonja; Michailidou, Kyriaki; Bolla, Manjeet K.; Wang, Qin & Kristensen, Vessela N. [Show all 50 contributors for this article] (2021). Mendelian randomisation study of smoking exposure in relation to breast cancer risk. British Journal of Cancer. ISSN 0007-0920. 125(8), p. 1135–1145. doi: 10.1038/s41416-021-01432-8. Full text in Research Archive
• Johnson, Nichola; Maguire, Sarah; Morra, Anna; Kapoor, Pooja Middha; Tomczyk, Katarzyna & Kristensen, Vessela N. [Show all 50 contributors for this article] (2021). CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers. British Journal of Cancer. ISSN 0007-0920. 124, p. 842–854. doi: 10.1038/s41416-020-01185-w. Full text in Research Archive
• Rye, Inga Hansine; Huse, Kanutte; Josefsson, Sarah Elisabet; Kildal, Wanja; Danielsen, Håvard Emil Greger & Schlichting, Ellen [Show all 28 contributors for this article] (2021). Breast cancer metastasis: immune profiling of lymph nodes reveals exhaustion of effector T cells and immunosuppression. Molecular Oncology. ISSN 1574-7891. 16(1), p. 88–103. doi: 10.1002/1878-0261.13047. Full text in Research Archive
• Morra, Anna; Escala-Garcia, Maria; Beesley, Jonathan; Keeman, Renske; Canisius, Sander & Ahearn, Thomas U. [Show all 50 contributors for this article] (2021). Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment. Breast Cancer Research. ISSN 1465-5411. 23:86(1), p. 1–18. doi: 10.1186/s13058-021-01450-7. Full text in Research Archive
• Fores-Martos, Jaume; Cervera-Vidal, Raimundo; Sierra-Roca, Julia; Lozano-Asencio, Carlos; Fedele, Vita & Cornelissen, Sten [Show all 19 contributors for this article] (2021). Circadian PERformance in breast cancer: a germline and somatic genetic study of PER3 ^VNTR polymorphisms and gene co-expression. NPJ breast cancer. ISSN 2374-4677. 7(1). doi: 10.1038/s41523-021-00329-2.
• Haugen, Mads Haugland; Lingjærde, Ole Christian; Hedenfalk, Ingrid; Garred, Øystein; Borgen, Elin & Loman, Niklas [Show all 12 contributors for this article] (2021). Protein signature predicts response to neoadjuvant treatment with chemotherapy and bevacizumab in HER2-negative breast cancers. JCO Precision Oncology (JCO PO). 5, p. 286–306. doi: 10.1200/PO.20.00086. Full text in Research Archive
• Terkelsen, Thilde; Pernemalm, Maria; Gromov, Pavel; Børresen-Dale, Anne-Lise; Krogh, Anders & Haakensen, Vilde Drageset [Show all 9 contributors for this article] (2021). High-throughput proteomics of breast cancer interstitial fluid: identification of tumor subtype-specific serologically relevant biomarkers. Molecular Oncology. ISSN 1574-7891. 15(2), p. 429–461. doi: 10.1002/1878-0261.12850.
• Erdelyi, Katalin; Ditroi, Tamas; Johansson, Henrik J.; Czikora, Agnes; Balog, Noemi & Silwal-Pandit, Laxmi [Show all 19 contributors for this article] (2021). Reprogrammed transsulfuration promotes basal-like breast tumor progression via realigning cellular cysteine persulfidation. Proceedings of the National Academy of Sciences of the United States of America. ISSN 0027-8424. 118(45). doi: 10.1073/pnas.2100050118. Full text in Research Archive
• Aure, Miriam Ragle; Fleischer, Thomas; Bjørklund, Sunniva; Ankill, Jørgen; Castro Mondragón, Jaime Abraham & Børresen-Dale, Anne-Lise [Show all 11 contributors for this article] (2021). Crosstalk between microRNA expression and DNA methylation drives the hormone-dependent phenotype of breast cancer. Genome Medicine. ISSN 1756-994X. 13:72, p. 1–21. doi: 10.1186/s13073-021-00880-4. Full text in Research Archive
• Yuan, Yuan; Ju, Young Seok; Kim, Youngwook; Li, Jun; Wang, Yumeng & Yoon, Christopher J. [Show all 1,340 contributors for this article] (2020). Comprehensive molecular characterization of mitochondrial genomes in human cancers. Nature Genetics. ISSN 1061-4036. 52(3), p. 342–352. doi: 10.1038/s41588-019-0557-x.
• Rodriguez-Martin, Bernardo; Alvarez, Eva G.; Baez-Ortega, Adrian; Zamora, Jorge; Supek, Fran & Demeulemeester, Jonas [Show all 1,441 contributors for this article] (2020). Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nature Genetics. ISSN 1061-4036. 52(3), p. 306–319. doi: 10.1038/s41588-019-0562-0.
• Zapatka, Marc; Borozan, Ivan; Brewer, Daniel S.; Iskar, Murat; Grundhoff, Adam & Alawi, Malik [Show all 1,352 contributors for this article] (2020). The landscape of viral associations in human cancers. Nature Genetics. ISSN 1061-4036. 52(3), p. 320–330. doi: 10.1038/s41588-019-0558-9.
• Akdemir, Kadir C.; Le, Victoria T.; Chandran, Sahaana; Li, Yilong; Verhaak, Roel G. & Beroukhim, Rameen [Show all 1,401 contributors for this article] (2020). Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer. Nature Genetics. ISSN 1061-4036. 52(3), p. 294–305. doi: 10.1038/s41588-019-0564-y.
• Cortés-Ciriano, Isidro; Lee, Jake June-Koo; Xi, Ruibin; Jain, Dhawal; Jung, Youngsook L. & Yang, Lixing [Show all 1,398 contributors for this article] (2020). Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing. Nature Genetics. ISSN 1061-4036. 52(3), p. 331–341. doi: 10.1038/s41588-019-0576-7.
• Rubanova, Yulia; Shi, Ruian; Harrigan, Caitlin F.; Li, Roujia; Wintersinger, Jeff & Sahin, Nil [Show all 1,399 contributors for this article] (2020). Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig. Nature Communications. ISSN 2041-1723. 11(1). doi: 10.1038/s41467-020-14352-7.
• Jiao, Wei; Atwal, Gurnit; Polak, Paz; Karlic, Rosa; Cuppen, Edwin & Al-Shahrour, Fatima [Show all 1,383 contributors for this article] (2020). A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns. Nature Communications. ISSN 2041-1723. 11(1). doi: 10.1038/s41467-019-13825-8.
• Sieverling, Lina; Hong, Chen; Koser, Sandra D.; Ginsbach, Philip; Kleinheinz, Kortine & Hutter, Barbara [Show all 1,406 contributors for this article] (2020). Genomic footprints of activated telomere maintenance mechanisms in cancer. Nature Communications. ISSN 2041-1723. 11(1). doi: 10.1038/s41467-019-13824-9.
• Cmero, Marek; Yuan, Ke; Ong, Cheng Soon; Schröder, Jan; Adams, David J. & Anur, Pavana [Show all 1,396 contributors for this article] (2020). Inferring structural variant cancer cell fraction. Nature Communications. ISSN 2041-1723. 11(1). doi: 10.1038/s41467-020-14351-8.
• Cmero, Marek; Yuan, Ke; Ong, Cheng Soon; Schröder, Jan; Adams, David J. & Anur, Pavana [Show all 1,396 contributors for this article] (2020). Inferring structural variant cancer cell fraction. Nature Communications. ISSN 2041-1723. 11(1). doi: 10.1038/s41467-020-14351-8.
• Bhandari, Vinayak; Li, Constance H.; Bristow, Robert G.; Boutros, Paul C.; Aaltonen, Lauri A. & Abascal, Federico [Show all 1,328 contributors for this article] (2020). Divergent mutational processes distinguish hypoxic and normoxic tumours. Nature Communications. ISSN 2041-1723. 11(1). doi: 10.1038/s41467-019-14052-x.
• Zhang, Yiqun; Chen, Fengju; Fonseca, Nuno A.; He, Yao; Fujita, Masashi & Nakagawa, Hidewaki [Show all 1,465 contributors for this article] (2020). High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations. Nature Communications. ISSN 2041-1723. 11(1). doi: 10.1038/s41467-019-13885-w.
• Escala-Garcia, Maria; Abraham, Jean; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker & Børresen-Dale, Anne-Lise [Show all 51 contributors for this article] (2020). A network analysis to identify mediators of germline-driven differences in breast cancer prognosis. Nature Communications. ISSN 2041-1723. 11:312, p. 1–14. doi: 10.1038/s41467-019-14100-6. Full text in Research Archive
• Liu, Jingjing; van der Smissen, Wendy J. C. Prager; Collee, Margriet J.; Bolla, Manjeet K.; Wang, Qin & Kristensen, Vessela N. [Show all 82 contributors for this article] (2020). Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk. Scientific Reports. ISSN 2045-2322. 10:9688(1), p. 1–14. doi: 10.1038/s41598-020-65665-y. Full text in Research Archive Show summary

  In breast cancer, high levels of homeobox protein Hox-B13 (HOXB13) have been associated with disease progression of ER-positive breast cancer patients and resistance to tamoxifen treatment. Since HOXB13 p.G84E is a prostate cancer risk allele, we evaluated the association between HOXB13 germline mutations and breast cancer risk in a previous study consisting of 3,270 familial non-BRCA1/2 breast cancer cases and 2,327 controls from the Netherlands. Although both recurrent HOXB13 mutations p.G84E and p.R217C were not associated with breast cancer risk, the risk estimation for p.R217C was not very precise. To provide more conclusive evidence regarding the role of HOXB13 in breast cancer susceptibility, we here evaluated the association between HOXB13 mutations and increased breast cancer risk within 81 studies of the international Breast Cancer Association Consortium containing 68,521 invasive breast cancer patients and 54,865 controls. Both HOXB13 p.G84E and p.R217C did not associate with the development of breast cancer in European women, neither in the overall analysis (OR=1.035, 95% CI=0.859–1.246, P=0.718 and OR=0.798, 95% CI=0.482–1.322, P=0.381 respectively), nor in specifc high-risk subgroups or breast cancer subtypes. Thus, although involved in breast cancer progression, HOXB13 is not a material breast cancer susceptibility gene.

• Bailey, Matthew H.; Meyerson, William U.; Dursi, L. Jonathan; Wang, Liang-Bo; Dong, Guanlan & Aure, Miriam Ragle [Show all 51 contributors for this article] (2020). Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. Nature Communications. ISSN 2041-1723. 11:4748, p. 1–27. doi: 10.1038/s41467-020-18151-y. Full text in Research Archive
• Li, Constance H.; Prokopec, Stephenie D.; Sun, Ren X.; Yousif, Fouad; Schmitz, Nathaniel & Aure, Miriam Ragle [Show all 51 contributors for this article] (2020). Sex differences in oncogenic mutational processes. Nature Communications. ISSN 2041-1723. 11:4330, p. 1–24. doi: 10.1038/s41467-020-17359-2. Full text in Research Archive
• Kramer, Iris; Hooning, Maartje J.; Mavaddat, Nasim; Hauptmann, Michael; Keeman, Renske & Steyerberg, Ewout W. [Show all 54 contributors for this article] (2020). Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk. American Journal of Human Genetics. ISSN 0002-9297. 107(5), p. 837–848. doi: 10.1016/j.ajhg.2020.09.001. Show summary

  Previous research has shown that polygenic risk scores (PRSs) can be used to stratify women according to their risk of developing primary invasive breast cancer. This study aimed to evaluate the association between a recently validated PRS of 313 germline variants (PRS313) and contralateral breast cancer (CBC) risk. We included 56,068 women of European ancestry diagnosed with first invasive breast cancer from 1990 onward with follow-up from the Breast Cancer Association Consortium. Metachronous CBC risk (N = 1,027) according to the distribution of PRS313 was quantified using Cox regression analyses. We assessed PRS313 interaction with age at first diagnosis, family history, morphology, ER status, PR status, and HER2 status, and (neo)adjuvant therapy. In studies of Asian women, with limited follow-up, CBC risk associated with PRS313 was assessed using logistic regression for 340 women with CBC compared with 12,133 women with unilateral breast cancer. Higher PRS313 was associated with increased CBC risk: hazard ratio per standard deviation (SD) = 1.25 (95%CI = 1.18–1.33) for Europeans, and an OR per SD = 1.15 (95%CI = 1.02–1.29) for Asians. The absolute lifetime risks of CBC, accounting for death as competing risk, were 12.4% for European women at the 10th percentile and 20.5% at the 90th percentile of PRS313. We found no evidence of confounding by or interaction with individual characteristics, characteristics of the primary tumor, or treatment. The C-index for the PRS313 alone was 0.563 (95%CI = 0.547–0.586). In conclusion, PRS313 is an independent factor associated with CBC risk and can be incorporated into CBC risk prediction models to help improve stratification and optimize surveillance and treatment strategies.

• ICGC/TCGA Pan-Cancer Analysis, of Whole Genomes Consortium; Campbell, Peter J.; Getz, Gad; Korbel, Jan O.; Stuart, Joshua M. & Jennings, Jennifer L. [Show all 54 contributors for this article] (2020). Pan-cancer analysis of whole genomes. Nature. ISSN 0028-0836. 578(7793), p. 82–93. doi: 10.1038/s41586-020-1969-6. Full text in Research Archive
• Pladsen, Arne Valebjørg; Nilsen, Gro; Rueda, Oscar M.; Aure, Miriam Ragle; Borgan, Ørnulf & Liestøl, Knut [Show all 18 contributors for this article] (2020). DNA copy number motifs are strong and independent predictors of survival in breast cancer. Communications Biology. ISSN 2399-3642. 3. doi: 10.1038/s42003-020-0884-6. Full text in Research Archive
• Gythfeldt, Hedda von der Lippe; Lien, Tonje Gulbrandsen; Tekpli, Xavier; Silwal-Pandit, Laxmi; Borgen, Elin & Garred, Øystein [Show all 15 contributors for this article] (2020). Immune phenotype of tumor microenvironment predicts response to bevacizumab in neoadjuvant treatment of ER-positive breast cancer. International Journal of Cancer. ISSN 0020-7136. 147(9), p. 2515–2525. doi: 10.1002/ijc.33108. Full text in Research Archive
• Ree, Anne Hansen; Nygaard, Vigdis; Pedersen, Kjetil Boye; Heinrich, Daniel; Dueland, Svein & Bergheim, Inger Riise [Show all 25 contributors for this article] (2020). Molecularly matched therapy in the context of sensitivity, resistance, and safety; patient outcomes in end-stage cancer?the MetAction study. Acta Oncologica. ISSN 0284-186X. p. 1–10. doi: 10.1080/0284186X.2020.1742377. Full text in Research Archive
• Mukhopadhyay, Utpal K; Oturkar, Chetan C; Adams, Christina; Wickramasekera, Nadi; Bansal, Sanjay & Medisetty, Rajesh [Show all 19 contributors for this article] (2019). TP53 Status as a Determinant of Pro- vs Anti-Tumorigenic Effects of Estrogen Receptor-Beta in Breast Cancer. Journal of the National Cancer Institute. ISSN 0027-8874. 111(11), p. 1202–1215. doi: 10.1093/jnci/djz051.
• Nygård, Ståle; Lingjærde, Ole Christian; Caldas, Carlos; Hovig, Eivind; Børresen-Dale, Anne-Lise & Helland, Åslaug [Show all 7 contributors for this article] (2019). PathTracer: High-sensitivity detection of differential pathway activity in tumours. Scientific Reports. ISSN 2045-2322. 9:16332, p. 1–8. doi: 10.1038/s41598-019-52529-3. Full text in Research Archive
• Lindholm, Evita Maria; Aure, Miriam Ragle; Haugen, Mads Haugland; Sahlberg, Kristine Kleivi; Kristensen, Vessela N. & Nebdal, Daniel J.H. [Show all 9 contributors for this article] (2019). miRNA expression changes during the course of neoadjuvant bevacizumab and chemotherapy treatment in breast cancer. Molecular Oncology. ISSN 1574-7891. 13(10), p. 2278–2296. doi: 10.1002/1878-0261.12561. Full text in Research Archive
• Escala-Garcia, Maria; Guo, Qi; Dörk, Thilo; Canisius, Sander; Keeman, Renske & Dennis, Joe [Show all 236 contributors for this article] (2019). Genome-wide association study of germline variants and breast cancer-specific mortality. British Journal of Cancer. ISSN 0007-0920. 120(6), p. 647–657. doi: 10.1038/s41416-019-0393-x. Full text in Research Archive
• Lai, Xiaoran; Geier, Oliver; Fleischer, Thomas; Garred, Øystein; Borgen, Elin & Funke, Simon Wolfgang [Show all 14 contributors for this article] (2019). Towards personalized computer simulation of breast cancer treatment: a multi-scale pharmacokinetic and pharmacodynamic model informed by multi-type patient data. Cancer Research. ISSN 0008-5472. 79(16), p. 4293–4304. doi: 10.1158/0008-5472.CAN-18-1804. Full text in Research Archive
• Johansson, Henrik J.; Socciarelli, Fabio; Vacanti, Nathaniel M.; Haugen, Mads Haugland; Zhu, Yafeng & Siavelis, Ioannis [Show all 36 contributors for this article] (2019). Breast cancer quantitative proteome and proteogenomic landscape. Nature Communications. ISSN 2041-1723. 10:1600, p. 1–14. doi: 10.1038/s41467-019-09018-y. Full text in Research Archive
• Brinkman, Arie B.; Nik-Zainal, Serena; Simmer, Femke; Rodríguez-González, F. Germán; Smid, Marcel & Alexandrov, Ludmil B. [Show all 29 contributors for this article] (2019). Partially methylated domains are hypervariable in breast cancer and fuel widespread CpG island hypermethylation. Nature Communications. ISSN 2041-1723. 10. doi: 10.1038/s41467-019-09828-0. Full text in Research Archive
• Lindholm, Evita Maria; Leivonen, Suvi-Katri; Due, Eldri Undlien; Nebdal, Daniel J.H.; Git, Anna & Caldas, Carlos [Show all 8 contributors for this article] (2019). miR-342-5p as a Potential Regulator of HER2 Breast Cancer Cell Growth. MicroRNA. ISSN 2211-5366. 8(2), p. 155–165. doi: 10.2174/2211536608666181206124922.
• Ree, Anne Hansen; Nygaard, Vigdis; Russnes, Hege Elisabeth Giercksky; Heinrich, Daniel; Nygaard, Vegard & Johansen, Christin [Show all 13 contributors for this article] (2019). Responsiveness to PD-1 Blockade in End-Stage Colon Cancer with Gene Locus 9p24.1 Copy-Number Gain. Cancer immunology research. ISSN 2326-6066. 7(5), p. 701–706. doi: 10.1158/2326-6066.CIR-18-0777. Full text in Research Archive
• Smid, Marcel; Wilting, Saskia M.; Uhr, Katharina; Rodríguez-González, F. Germán; de Weerd, Vanja & Prager-Van der Smissen, Wendy J.C. [Show all 41 contributors for this article] (2019). The circular RNome of primary breast cancer. Genome Research. ISSN 1088-9051. 29(3), p. 356–366. doi: 10.1101/gr.238121.118. Full text in Research Archive
• Mavaddat, Nasim; Michailidou, Kyriaki; Dennis, Joe; Lush, Michael; Fachal, Laura & Lee, Andrew [Show all 56 contributors for this article] (2018). Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. American Journal of Human Genetics. ISSN 0002-9297. 104(1), p. 21–34. doi: 10.1016/j.ajhg.2018.11.002. Show summary

  Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies, divided into training and validation sets. Samples were genotyped using genome-wide arrays, and single-nucleotide polymorphisms (SNPs) were selected by stepwise regression or lasso penalized regression. The best performing PRSs were validated in an independent test set comprising 11,428 case subjects and 18,323 control subjects from 10 prospective studies and 190,040 women from UK Biobank (3,215 incident breast cancers). For the best PRSs (313 SNPs), the odds ratio for overall disease per 1 standard deviation in ten prospective studies was 1.61 (95%CI: 1.57–1.65) with area under receiver-operator curve (AUC) = 0.630 (95%CI: 0.628–0.651). The lifetime risk of overall breast cancer in the top centile of the PRSs was 32.6%. Compared with women in the middle quintile, those in the highest 1% of risk had 4.37- and 2.78-fold risks, and those in the lowest 1% of risk had 0.16- and 0.27-fold risks, of developing ER-positive and ER-negative disease, respectively. Goodness-of-fit tests indicated that this PRS was well calibrated and predicts disease risk accurately in the tails of the distribution. This PRS is a powerful and reliable predictor of breast cancer risk that may improve breast cancer prevention programs.

• Terkelsen, Thilde; Haakensen, Vilde Drageset; Saldova, Radka; Gromov, Pavel; Hansen, Merete Kjær & Stockmann, Henning [Show all 12 contributors for this article] (2018). N-glycan signatures identified in tumor interstitial fluid and serum of breast cancer patients: association with tumor biology and clinical outcome. Molecular Oncology. ISSN 1574-7891. 12(6), p. 972–990. doi: 10.1002/1878-0261.12312.
• Møller, Elen Kristine; Nord, Silje; Wedge, David C; Lingjærde, Ole Christian; Silwal-Pandit, Laxmi & Gythfeldt, Hedda [Show all 19 contributors for this article] (2018). Time series analysis of neoadjuvant chemotherapy and bevacizumab-treated breast carcinomas reveals a systemic shift in genomic aberrations. Genome Medicine. ISSN 1756-994X. 10:92. doi: 10.1186/s13073-018-0601-y. Full text in Research Archive
• Jabeen, Shakila; Espinoza, Jaime; Torland, Lilly Anne; Zucknick, Manuela; Kumar, Surendra & Haakensen, Vilde Drageset [Show all 15 contributors for this article] (2018). Noninvasive profiling of serum cytokines in breast cancer patients and clinicopathological characteristics. Oncoimmunology. ISSN 2162-4011. :e1537691. doi: 10.1080/2162402X.2018.1537691. Full text in Research Archive
• Rye, Inga Hansine; Trinh, Anne; Sætersdal, Anna Barbro; Nebdal, Daniel J.H.; Lingjærde, Ole Christian & Almendro, Vanessa [Show all 11 contributors for this article] (2018). Intratumor heterogeneity defines treatment-resistant HER2+ breast tumors. Molecular Oncology. ISSN 1574-7891. p. 1–18. doi: 10.1002/1878-0261.12375. Full text in Research Archive
• Jabeen, Shakila; Zucknick, Manuela; Nome, Marianne Eikhom; dannenfelser, ruth; Fleischer, Thomas & Kumar, Surendra [Show all 15 contributors for this article] (2018). Serum cytokine levels in breast cancer patients during neoadjuvant treatment with bevacizumab. Oncoimmunology. ISSN 2162-4011. 7(11), p. e1457598-1–e1457598-15. doi: 10.1080/2162402X.2018.1457598.
• Prasmickaite, Lina; Tenstad, Ellen; Pettersen, Solveig; Jabeen, Shakila; Egeland, Eivind Valen & Nord, Silje [Show all 12 contributors for this article] (2018). Basal-like breast cancer engages tumor-supportive macrophages via secreted factors induced by extracellular S100A4. Molecular Oncology. ISSN 1574-7891. 12(9), p. 1540–1558. doi: 10.1002/1878-0261.12319. Full text in Research Archive
• Alves, Cleidson P.; Dey-Guha, Ipsita; Kabraji, Sheheryar; Yeh, Albert C; Talele, Nilesh P & Solé, Xavier [Show all 14 contributors for this article] (2018). AKT1low Quiescent Cancer Cells Promote Solid Tumor Growth. Molecular Cancer Therapeutics. ISSN 1535-7163. 17(1), p. 254–263. doi: 10.1158/1535-7163.MCT-16-0868.
• Milne, Roger L; Kuchenbaecker, Karoline B; Michailidou, Kyriaki; Beesley, Jonathan; Kar, Siddhartha & Lindström, Sara [Show all 20 contributors for this article] (2017). Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nature Genetics. ISSN 1061-4036. 49(12), p. 1767–1778. doi: 10.1038/ng.3785. Show summary

  Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease1. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10−8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.

• Michailidou, Kyriaki; Lindström, Sara; Dennis, Joe; Beesley, Jonathan; Hui, Shirley & Kar, Siddhartha [Show all 359 contributors for this article] (2017). Association analysis identifies 65 new breast cancer risk loci. Nature. ISSN 0028-0836. 551(7678), p. 92–94. doi: 10.1038/nature24284. Show summary

  Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry1. We identified 65 new loci that are associated with overall breast cancer risk at P < 5 × 10−8. The majority of credible risk single-nucleotide polymorphisms in these loci fall in distal regulatory elements, and by integrating in silico data to predict target genes in breast cells at each locus, we demonstrate a strong overlap between candidate target genes and somatic driver genes in breast tumours. We also find that heritability of breast cancer due to all single-nucleotide polymorphisms in regulatory features was 2–5-fold enriched relative to the genome-wide average, with strong enrichment for particular transcription factor binding sites. These results provide further insight into genetic susceptibility to breast cancer and will improve the use of genetic risk scores for individualized screening and prevention.

• Fleischer, Thomas; Tekpli, Xavier; Mathelier, Anthony; Wang, Shixiong; Nebdal, Daniel J.H. & Dhakal, Hari Prasad [Show all 16 contributors for this article] (2017). DNA methylation at enhancers identifies distinct breast cancer lineages. Nature Communications. ISSN 2041-1723. 8(1379). doi: 10.1038/s41467-017-00510-x. Full text in Research Archive
• Saldova, Radka; Haakensen, Vilde Drageset; Rødland, Einar Andreas; Walsh, Ian; Stöckmann, Henning & Engebråten, Olav [Show all 7 contributors for this article] (2017). Serum N-glycome alterations in breast cancer during multimodal treatment and follow-up. Molecular Oncology. ISSN 1574-7891. 11(10), p. 1361–1379. doi: 10.1002/1878-0261.12105. Show summary

  Using our recently developed high-throughput automated platform, N-glycans from all serum glycoproteins from patients with breast cancer were analysed at diagnosis, after neoadjuvant chemotherapy, surgery, radiotherapy and up to 3 years after surgery. Surprisingly, alterations in the serum N-glycome after chemotherapy were pro-inflammatory with an increase in glycan structures associated with cancer. Surgery, on the other hand, induced anti-inflammatory changes in the serum N-glycome, towards a noncancerous phenotype. At the time of first follow-up, glycosylation in patients with affected lymph nodes changed towards a malignant phenotype. C-reactive protein showed a different pattern, increasing after first line of neoadjuvant chemotherapy, then decreasing throughout treatment until 1 year after surgery. This may reflect a switch from acute to chronic inflammation, where chronic inflammation is reflected in the serum after the acute phase response subsides. In conclusion, we here present the first time-course serum N-glycome profiling of patients with breast cancer during and after treatment. We identify significant glycosylation changes with chemotherapy, surgery and follow-up, reflecting the host response to therapy and tumour removal.

• Davies, Helen; Morganella, Sandro; Purdie, Colin A.; Jang, Se Jin; Borgen, Elin & Russnes, Hege Elisabeth Giercksky [Show all 16 contributors for this article] (2017). Whole-genome sequencing reveals breast cancers with mismatch repair deficiency. Cancer Research. ISSN 0008-5472. 77(18), p. 4755–4762. doi: 10.1158/0008-5472.CAN-17-1083.
• Dumeaux, Vanessa; Fjukstad, Bjørn; Fjøsne, Hans Erikssønn; Frantzen, Jan Ole; Holmen, Marit Muri & Rodegerdts, Enno [Show all 11 contributors for this article] (2017). Interactions between the tumor and the blood systemic response of breast cancer patients. PLoS Computational Biology. ISSN 1553-734X. 13(9:e1005680), p. 1–27. doi: 10.1371/journal.pcbi.1005680.
• Østrup, Olga; Dagenborg, Vegar Johansen; Rødland, Einar Andreas; Skarpeteig, Veronica ; Silwal-Pandit, Laxmi & Grzyb, Krzysztof [Show all 13 contributors for this article] (2017). Molecular signatures reflecting microenvironmental metabolism and chemotherapy-induced immunogenic cell death in colorectal liver metastases. OncoTarget. ISSN 1949-2553. 8(44), p. 76290–76304. doi: 10.18632/oncotarget.19350. Full text in Research Archive
• Cheng, Jiqiu; Demeulemeester, Jonas; Wedge, David C.; Vollan, Hans Kristian Moen; Pitt, Jason & Russnes, Hege Elisabeth Giercksky [Show all 18 contributors for this article] (2017). Pan-cancer analysis of homozygous deletions in primary tumours uncovers rare tumour suppressors. Nature Communications. ISSN 2041-1723. 8:1221, p. 1–14. doi: 10.1038/s41467-017-01355-0. Full text in Research Archive
• Glodzik, Dominik; Morganella, Sandro; Davies, Helen; Simpson, Peter T.; Li, Yilong & Zou, Xueqing [Show all 30 contributors for this article] (2017). A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers. Nature Genetics. ISSN 1061-4036. 49(3), p. 341–348. doi: 10.1038/ng.3771.

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• Alexandrov, Ludmil B.; Kim, Jaegil; Haradhvala, Nicholas J.; Huang, Mi Ni; Tian Ng, Alvin Wei & Wu, Yang [Show all 1,383 contributors for this article] (2023). Author Correction: The repertoire of mutational signatures in human cancer (Nature, (2020), 578, 7793, (94-101), 10.1038/s41586-020-1943-3). Nature. ISSN 0028-0836. 614(7948). doi: 10.1038/s41586-022-05600-5.
• Calabrese, Claudia; Davidson, Natalie R.; Demircioğlu, Deniz; Fonseca, Nuno A.; He, Yao & Kahles, André [Show all 1,459 contributors for this article] (2023). Author Correction: Genomic basis for RNA alterations in cancer (Nature, (2020), 578, 7793, (129-136), 10.1038/s41586-020-1970-0). Nature. ISSN 0028-0836. 614(7948). doi: 10.1038/s41586-022-05596-y.
• Rheinbay, Esther; Nielsen, Morten Muhlig; Abascal, Federico; Wala, Jeremiah A.; Shapira, Ofer & Tiao, Grace [Show all 1,616 contributors for this article] (2023). Author Correction: Analyses of non-coding somatic drivers in 2,658 cancer whole genomes (Nature, (2020), 578, 7793, (102-111), 10.1038/s41586-020-1965-x). Nature. ISSN 0028-0836. 614(7948). doi: 10.1038/s41586-022-05599-9.
• Yakneen, Sergei; Waszak, Sebastian Martin; Aminou, Brice; Bartolome, Javier; Boroevich, Keith A. & Boyce, Rich [Show all 1,439 contributors for this article] (2023). Author Correction: Butler enables rapid cloud-based analysis of thousands of human genomes (Nature Biotechnology, (2020), 38, 3, (288-292), 10.1038/s41587-019-0360-3). Nature Biotechnology. ISSN 1087-0156. 41(4). doi: 10.1038/s41587-022-01554-1.
• Li, Yilong; Roberts, Nicola D.; Wala, Jeremiah A.; Shapira, Ofer; Schumacher, Steven E. & Kumar, Kiran [Show all 1,410 contributors for this article] (2023). Author Correction: Patterns of somatic structural variation in human cancer genomes (Nature, (2020), 578, 7793, (112-121), 10.1038/s41586-019-1913-9). Nature. ISSN 0028-0836. 614(7948). doi: 10.1038/s41586-022-05597-x.
• Gerstung, Moritz; Jolly, Clemency; Leshchiner, Ignaty; Dentro, Stefan C.; Gonzalez, Santiago & Rosebrock, Daniel [Show all 1,440 contributors for this article] (2023). Author Correction: The evolutionary history of 2,658 cancers (Nature, (2020), 578, 7793, (122-128), 10.1038/s41586-019-1907-7). Nature. ISSN 0028-0836. 614(7948). doi: 10.1038/s41586-022-05601-4.
• Yuan, Yuan; Ju, Young Seok; Kim, Youngwook; Li, Jun; Wang, Yumeng & Yoon, Christopher J. [Show all 1,340 contributors for this article] (2023). Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x). Nature Genetics. ISSN 1061-4036. 55(5). doi: 10.1038/s41588-020-0629-y.
• Yuan, Yuan; Ju, Young Seok; Kim, Youngwook; Li, Jun; Wang, Yumeng & Yoon, Christopher J. [Show all 1,339 contributors for this article] (2023). Publisher Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x). Nature Genetics. ISSN 1061-4036. 55(5). doi: 10.1038/s41588-020-0587-4.
• Rodriguez-Martin, Bernardo; Alvarez, Eva G.; Baez-Ortega, Adrian; Zamora, Jorge; Supek, Fran & Demeulemeester, Jonas [Show all 1,445 contributors for this article] (2023). Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition (Nature Genetics, (2020), 52, 3, (306-319), 10.1038/s41588-019-0562-0). Nature Genetics. ISSN 1061-4036. 55(6). doi: 10.1038/s41588-023-01319-9.
• Akdemir, Kadir C.; Le, Victoria T.; Chandran, Sahaana; Li, Yilong; Verhaak, Roel G. & Beroukhim, Rameen [Show all 1,405 contributors for this article] (2023). Author Correction: Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer (Nature Genetics, (2020), 52, 3, (294-305), 10.1038/s41588-019-0564-y). Nature Genetics. ISSN 1061-4036. 55(6). doi: 10.1038/s41588-023-01318-w.
• Yuan, Yuan; Ju, Young Seok; Kim, Youngwook; Li, Jun; Wang, Yumeng & Yoon, Christopher J. [Show all 1,340 contributors for this article] (2023). Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x). Nature Genetics. ISSN 1061-4036. 55(6). doi: 10.1038/s41588-023-01317-x.
• Cortés-Ciriano, Isidro; Lee, Jake June-Koo; Xi, Ruibin; Jain, Dhawal; Jung, Youngsook L. & Yang, Lixing [Show all 1,402 contributors for this article] (2023). Author Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing (Nature Genetics, (2020), 52, 3, (331-341), 10.1038/s41588-019-0576-7). Nature Genetics. ISSN 1061-4036. 55(6). doi: 10.1038/s41588-023-01315-z.
• Zapatka, Marc; Borozan, Ivan; Brewer, Daniel S.; Iskar, Murat; Grundhoff, Adam & Alawi, Malik [Show all 1,354 contributors for this article] (2023). Author Correction: The landscape of viral associations in human cancers (Nature Genetics, (2020), 52, 3, (320-330), 10.1038/s41588-019-0558-9). Nature Genetics. ISSN 1061-4036. 55(6). doi: 10.1038/s41588-023-01316-y.
• Aaltonen, Lauri A.; Abascal, Federico; Abeshouse, Adam; Aburatani, Hiroyuki; Adams, David J. & Agrawal, Nishant [Show all 1,324 contributors for this article] (2023). Author Correction: Pan-cancer analysis of whole genomes (Nature, (2020), 578, 7793, (82-93), 10.1038/s41586-020-1969-6). Nature. ISSN 0028-0836. 614(7948). doi: 10.1038/s41586-022-05598-w.
• Shuai, Shimin; Abascal, Federico; Amin, Samirkumar B.; Bader, Gary D.; Bandopadhayay, Pratiti & Barenboim, Jonathan [Show all 1,455 contributors for this article] (2022). Author Correction: Combined burden and functional impact tests for cancer driver discovery using DriverPower (Nature Communications, (2020), 11, 1, (734), 10.1038/s41467-019-13929-1). Nature Communications. ISSN 2041-1723. 13(1). doi: 10.1038/s41467-022-32343-8.
• Paczkowska, Marta; Barenboim, Jonathan; Sintupisut, Nardnisa; Fox, Natalie S.; Zhu, Helen & Abd-Rabbo, Diala [Show all 1,459 contributors for this article] (2022). Author Correction: Integrative pathway enrichment analysis of multivariate omics data (Nature Communications, (2020), 11, 1, (735), 10.1038/s41467-019-13983-9). Nature Communications. ISSN 2041-1723. 13(1). doi: 10.1038/s41467-022-32342-9.
• Zhang, Yiqun; Chen, Fengju; Fonseca, Nuno A.; He, Yao; Fujita, Masashi & Nakagawa, Hidewaki [Show all 1,480 contributors for this article] (2022). Author Correction: High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations (Nature Communications, (2020), 11, 1, (736), 10.1038/s41467-019-13885-w). Nature Communications. ISSN 2041-1723. 13(1). doi: 10.1038/s41467-022-32333-w.
• Cmero, Marek; Yuan, Ke; Ong, Cheng Soon; Schröder, Jan; Adams, David J. & Anur, Pavana [Show all 1,399 contributors for this article] (2022). Author Correction: Inferring structural variant cancer cell fraction (Nature Communications, (2020), 11, 1, (730), 10.1038/s41467-020-14351-8). Nature Communications. ISSN 2041-1723. 13(1). doi: 10.1038/s41467-022-32338-5.
• Jiao, Wei; Atwal, Gurnit; Polak, Paz; Karlic, Rosa; Cuppen, Edwin & Al-Shahrour, Fatima [Show all 1,385 contributors for this article] (2022). Author Correction: A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns (Nature Communications, (2020), 11, 1, (728), 10.1038/s41467-019-13825-8). Nature Communications. ISSN 2041-1723. 13(1). doi: 10.1038/s41467-022-32329-6.
• Sieverling, Lina; Hong, Chen; Koser, Sandra D.; Ginsbach, Philip; Kleinheinz, Kortine & Hutter, Barbara [Show all 1,413 contributors for this article] (2022). Author Correction: Genomic footprints of activated telomere maintenance mechanisms in cancer (Nature Communications, (2020), 11, 1, (733), 10.1038/s41467-019-13824-9). Nature Communications. ISSN 2041-1723. 13(1). doi: 10.1038/s41467-022-32328-7.
• Bhandari, Vinayak; Li, Constance H.; Bristow, Robert G.; Boutros, Paul C.; Aaltonen, Lauri A. & Abascal, Federico [Show all 1,328 contributors for this article] (2022). Author Correction: Divergent mutational processes distinguish hypoxic and normoxic tumours (Nature Communications, (2020), 11, 1, (737), 10.1038/s41467-019-14052-x). Nature Communications. ISSN 2041-1723. 13(1). doi: 10.1038/s41467-022-32339-4.
• Reyna, Matthew A.; Haan, David; Paczkowska, Marta; Verbeke, Lieven P. C.; Vazquez Garcia, Miguel & Kahraman, Abdullah [Show all 1,453 contributors for this article] (2022). Author Correction: Pathway and network analysis of more than 2500 whole cancer genomes (Nature Communications, (2020), 11, 1, (729), 10.1038/s41467-020-14367-0). Nature Communications. ISSN 2041-1723. 13(1). doi: 10.1038/s41467-022-32334-9.
• Rubanova, Yulia; Shi, Ruian; Harrigan, Caitlin F.; Li, Roujia; Wintersinger, Jeff & Sahin, Nil [Show all 1,402 contributors for this article] (2022). Author Correction: Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig (Nature Communications, (2020), 11, 1, (731), 10.1038/s41467-020-14352-7). Nature Communications. ISSN 2041-1723. 13(1). doi: 10.1038/s41467-022-32336-7.
• Bailey, Matthew H.; Meyerson, William U.; Dursi, Lewis Jonathan; Wang, Liang-Bo; Dong, Guanlan & Liang, Wen-Wei [Show all 1,451 contributors for this article] (2020). Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples (Nature Communications, (2020), 11, 1, (4748), 10.1038/s41467-020-18151-y). Nature Communications. ISSN 2041-1723. 11(1). doi: 10.1038/s41467-020-20128-w.
• Nik-Zainal, Serena; Davies, Helen; Staaf, Johan; Ramakrishna, Manasa; Glodzik, Dominik & Zou, Xueqing [Show all 88 contributors for this article] (2019). Correction to: Landscape of somatic mutations in 560 breast cancer whole-genome sequences (Nature, (2016), 534, 7605, (47-54), 10.1038/nature17676). Nature. ISSN 0028-0836. 566(7742). doi: 10.1038/s41586-019-0883-2.
• Cheng, Jiqiu; Demeulemeester, Jonas; Wedge, David C.; Vollan, Hans Kristian Moen; Pitt, Jason J. & Russnes, Hege Elisabeth Giercksky [Show all 18 contributors for this article] (2019). Correction to: Pan-cancer analysis of homozygous deletions in primary tumours uncovers rare tumour suppressors (Nature Communications, (2017), 8, 1, (1221), 10.1038/s41467-017-01355-0). Nature Communications. ISSN 2041-1723. 10(1). doi: 10.1038/s41467-019-08512-7.
• Cheng, Jiqiu; Demeulemeester, Jonas; Wedge, David C.; Vollan, Hans Kristian Moen; Pitt, Jason J. & Russnes, Hege Elisabeth Giercksky [Show all 18 contributors for this article] (2018). Author Correction: Pan-cancer analysis of homozygous deletions in primary tumours uncovers rare tumour suppressors. Nature Communications. ISSN 2041-1723. 9(1). doi: 10.1038/s41467-018-07842-2.
• Kaveh, Fatemeh; Baumbusch, Lars Oliver; Nebdal, Daniel J.H.; Børresen-Dale, Anne-Lise; Lingjærde, Ole Christian & Edvardsen, Hege [Show all 8 contributors for this article] (2018). Correction: A systematic comparison of copy number alterations in four types of female cancer. BMC Cancer. ISSN 1471-2407. 18(80). doi: 10.1186/s12885-017-3766-7.

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