دورية أكاديمية
Landscape of somatic mutations in 560 breast cancer whole-genome sequences
| العنوان: | Landscape of somatic mutations in 560 breast cancer whole-genome sequences |
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| المؤلفون: | Nik-Zainal, Serena, Davies, Helen, Staaf, Johan, Ramakrishna, Manasa, Glodzik, Dominik, Zou, Xueqing, Martincorena, Inigo, Alexandrov, Ludmil B, Martin, Sancha, Wedge, David C, Van Loo, Peter, Ju, Young Seok, Smid, Marcel, Brinkman, Arie B, Morganella, Sandro, Aure, Miriam R, Lingjærde, Ole Christian, Langerød, Anita, Ringnér, Markus, Ahn, Sung-Min, Boyault, Sandrine, Brock, Jane E, Broeks, Annegien, Butler, Adam, Desmedt, Christine, Dirix, Luc, Dronov, Serge, Fatima, Aquila, Foekens, John A, Gerstung, Moritz, Hooijer, Gerrit K J, Jang, Se Jin, Jones, David R, Kim, Hyung-Yong, King, Tari A, Krishnamurthy, Savitri, Lee, Hee Jin, Lee, Jeong-Yeon, Li, Yilong, McLaren, Stuart, Menzies, Andrew, Mustonen, Ville, O'Meara, Sarah, Pauporté, Iris, Pivot, Xavier, Purdie, Colin A, Raine, Keiran, Ramakrishnan, Kamna, Rodríguez-González, F Germán, Romieu, Gilles, Sieuwerts, Anieta M, Simpson, Peter T, Shepherd, Rebecca, Stebbings, Lucy, Stefansson, Olafur A, Teague, Jon, Tommasi, Stefania, Treilleux, Isabelle, Van den Eynden, Gert G, Vermeulen, Peter, Vincent-Salomon, Anne, Yates, Lucy, Caldas, Carlos, van't Veer, Laura, Tutt, Andrew, Knappskog, Stian, Tan, Benita Kiat Tee, Jonkers, Jos, Borg, Åke, Ueno, Naoto T, Sotiriou, Christos, Viari, Alain, Futreal, P Andrew, Campbell, Peter J, Span, Paul N, Van Laere, Steven, Lakhani, Sunil R, Eyfjord, Jorunn E, Thompson, Alastair M, Birney, Ewan, Stunnenberg, Hendrik G, van de Vijver, Marc J, Martens, John W M, Børresen-Dale, Anne-Lise, Richardson, Andrea L, Kong, Gu, Thomas, Gilles, Stratton, Michael R |
| المصدر: | Nature; 534(7605), pp 47-54 (2016) ; ISSN: 0028-0836 |
| بيانات النشر: | Nature Publishing Group |
| سنة النشر: | 2016 |
| المجموعة: | Lund University Publications (LUP) |
| مصطلحات موضوعية: | Cancer and Oncology, Medical Genetics, Cell and Molecular Biology, Breast Neoplasms, Cohort Studies, DNA Mutational Analysis, DNA Replication, DNA, Neoplasm, Female, Genes, BRCA1, BRCA2, Genome, Human, Genomics, Humans, Male, Mutagenesis, Mutation, Mutation Rate, Oncogenes, Recombinational DNA Repair |
| الوصف: | We analysed whole-genome sequences of 560 breast cancers to advance understanding of the driver mutations conferring clonal advantage and the mutational processes generating somatic mutations. We found that 93 protein-coding cancer genes carried probable driver mutations. Some non-coding regions exhibited high mutation frequencies, but most have distinctive structural features probably causing elevated mutation rates and do not contain driver mutations. Mutational signature analysis was extended to genome rearrangements and revealed twelve base substitution and six rearrangement signatures. Three rearrangement signatures, characterized by tandem duplications or deletions, appear associated with defective homologous-recombination-based DNA repair: one with deficient BRCA1 function, another with deficient BRCA1 or BRCA2 function, the cause of the third is unknown. This analysis of all classes of somatic mutation across exons, introns and intergenic regions highlights the repertoire of cancer genes and mutational processes operating, and progresses towards a comprehensive account of the somatic genetic basis of breast cancer. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| ردمك: | 978-0-00-376962-3 0-00-376962-3 |
| العلاقة: | https://lup.lub.lu.se/record/78b7cd41-aebe-4756-b732-c07ef1455952Test; http://dx.doi.org/10.1038/nature17676Test; pmid:27135926; scopus:84973594792; wos:000376962300031 |
| DOI: | 10.1038/nature17676 |
| الإتاحة: | https://doi.org/10.1038/nature17676Test https://lup.lub.lu.se/record/78b7cd41-aebe-4756-b732-c07ef1455952Test |
| رقم الانضمام: | edsbas.FE638C6F |
| قاعدة البيانات: | BASE |
| ردمك: | 9780003769623 0003769623 |
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| DOI: | 10.1038/nature17676 |