Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution. Export

@article{citeulike:5907451, abstract = {Recent advances in next generation sequencing have made it possible to precisely characterize all somatic coding mutations that occur during the development and progression of individual cancers. Here we used these approaches to sequence the genomes (>43-fold coverage) and transcriptomes of an oestrogen-receptor-alpha-positive metastatic lobular breast cancer at depth. We found 32 somatic non-synonymous coding mutations present in the metastasis, and measured the frequency of these somatic mutations in DNA from the primary tumour of the same patient, which arose 9 years earlier. Five of the 32 mutations (in ABCB11, HAUS3, SLC24A4, SNX4 and PALB2) were prevalent in the DNA of the primary tumour removed at diagnosis 9 years earlier, six (in KIF1C, USP28, MYH8, MORC1, KIAA1468 and RNASEH2A) were present at lower frequencies (1-13\%), 19 were not detected in the primary tumour, and two were undetermined. The combined analysis of genome and transcriptome data revealed two new RNA-editing events that recode the amino acid sequence of SRP9 and COG3. Taken together, our data show that single nucleotide mutational heterogeneity can be a property of low or intermediate grade primary breast cancers and that significant evolution can occur with disease progression.}, author = {Shah, Sohrab P. and Morin, Ryan D. and Khattra, Jaswinder and Prentice, Leah and Pugh, Trevor and Burleigh, Angela and Delaney, Allen and Gelmon, Karen and Guliany, Ryan and Senz, Janine and Steidl, Christian and Holt, Robert A. and Jones, Steven and Sun, Mark and Leung, Gillian and Moore, Richard and Severson, Tesa and Taylor, Greg A. and Teschendorff, Andrew E. and Tse, Kane and Turashvili, Gulisa and Varhol, Richard and Warren, Ren\'{e} L. and Watson, Peter and Zhao, Yongjun and Caldas, Carlos and Huntsman, David and Hirst, Martin and Marra, Marco A. and Aparicio, Samuel}, citeulike-article-id = {5907451}, citeulike-linkout-0 = {http://dx.doi.org/10.1038/nature08489}, citeulike-linkout-1 = {http://dx.doi.org/10.1038/nature08489}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/19812674}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=19812674}, day = {8}, doi = {10.1038/nature08489}, issn = {1476-4687}, journal = {Nature}, keywords = {genomes, individual}, month = {October}, number = {7265}, pages = {809--813}, posted-at = {2009-10-09 01:10:50}, priority = {4}, publisher = {Macmillan Publishers Limited. All rights reserved}, title = {Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution.}, url = {http://dx.doi.org/10.1038/nature08489}, volume = {461}, year = {2009} }

TY - JOUR ID - citeulike:5907451 L3 - citeulike-article-id:5907451 N2 - Recent advances in next generation sequencing have made it possible to precisely characterize all somatic coding mutations that occur during the development and progression of individual cancers. Here we used these approaches to sequence the genomes (>43-fold coverage) and transcriptomes of an oestrogen-receptor-alpha-positive metastatic lobular breast cancer at depth. We found 32 somatic non-synonymous coding mutations present in the metastasis, and measured the frequency of these somatic mutations in DNA from the primary tumour of the same patient, which arose 9 years earlier. Five of the 32 mutations (in ABCB11, HAUS3, SLC24A4, SNX4 and PALB2) were prevalent in the DNA of the primary tumour removed at diagnosis 9 years earlier, six (in KIF1C, USP28, MYH8, MORC1, KIAA1468 and RNASEH2A) were present at lower frequencies (1-13%), 19 were not detected in the primary tumour, and two were undetermined. The combined analysis of genome and transcriptome data revealed two new RNA-editing events that recode the amino acid sequence of SRP9 and COG3. Taken together, our data show that single nucleotide mutational heterogeneity can be a property of low or intermediate grade primary breast cancers and that significant evolution can occur with disease progression. IS - 7265 JF - Nature SN - 1476-4687 EP - 813 TI - Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution. PB - Macmillan Publishers Limited. All rights reserved VL - 461 SP - 809 KW - genomes KW - individual AU - Shah, Sohrab AU - Morin, Ryan AU - Khattra, Jaswinder AU - Prentice, Leah AU - Pugh, Trevor AU - Burleigh, Angela AU - Delaney, Allen AU - Gelmon, Karen AU - Guliany, Ryan AU - Senz, Janine AU - Steidl, Christian AU - Holt, Robert AU - Jones, Steven AU - Sun, Mark AU - Leung, Gillian AU - Moore, Richard AU - Severson, Tesa AU - Taylor, Greg AU - Teschendorff, Andrew AU - Tse, Kane AU - Turashvili, Gulisa AU - Varhol, Richard AU - Warren, René AU - Watson, Peter AU - Zhao, Yongjun AU - Caldas, Carlos AU - Huntsman, David AU - Hirst, Martin AU - Marra, Marco AU - Aparicio, Samuel PY - 2009/10/08/ UR - http://dx.doi.org/10.1038/nature08489 ER -