{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T22:53:38Z","timestamp":1771455218626,"version":"3.50.1"},"reference-count":70,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,6,28]],"date-time":"2022-06-28T00:00:00Z","timestamp":1656374400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,6,28]],"date-time":"2022-06-28T00:00:00Z","timestamp":1656374400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Most colorectal cancers (CRC) arise from precursor lesions. This study aimed to characterize the mutation profile of colorectal cancer precursor lesions in a Brazilian population.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>In total, 90 formalin-fixed paraffin-embedded colorectal precursor lesions, including 67 adenomas, 7 sessile serrated lesions, and 16 hyperplastic polyps, were analyzed by next-generation sequencing using a panel of 50 oncogenes and tumor suppressor genes. The genetic ancestry of the patients was estimated.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Somatic driver mutations were identified in 66.7% of cases, including alterations in <jats:italic>APC<\/jats:italic> (32.2%), <jats:italic>TP53<\/jats:italic> (20.0%), <jats:italic>KRAS<\/jats:italic> (18.9%), <jats:italic>BRAF<\/jats:italic> (13.3%) and <jats:italic>EGFR<\/jats:italic> (7.8%). Adenomas displayed a higher number of mutations, mainly in <jats:italic>APC<\/jats:italic>, compared to serrated polyps (73.1% vs. 47.8%, <jats:italic>p<\/jats:italic>\u2009=\u20090.026). Advanced adenomas had a significantly higher frequency of mutation in <jats:italic>KRAS<\/jats:italic> and a high overall mutation rate than early adenomas (92.9% vs. 59%, <jats:italic>p<\/jats:italic>\u2009=\u20090.006). A high degree of ancestry admixture was observed in the population studied, with a predominance of European components (mean of 73%) followed by African (mean of 11.3%). No association between genetic ancestry and type of lesions was found. The mutation profile of Brazilian colorectal precursor lesions exhibits alteration in <jats:italic>APC<\/jats:italic>, <jats:italic>KRAS<\/jats:italic>, <jats:italic>TP53,<\/jats:italic> and <jats:italic>BRAF<\/jats:italic> at different frequencies according to lesion type.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>These results bestow the knowledge of CRC's biologic history and support the potential of these biomarkers for precursor lesions detection in CRC screening of the Brazilian population.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-022-01294-w","type":"journal-article","created":{"date-parts":[[2022,6,28]],"date-time":"2022-06-28T03:29:26Z","timestamp":1656386966000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Somatic targeted mutation profiling of colorectal cancer precursor lesions"],"prefix":"10.1186","volume":"15","author":[{"given":"Wellington","family":"dos Santos","sequence":"first","affiliation":[]},{"given":"Mariana Bisarro","family":"dos Reis","sequence":"additional","affiliation":[]},{"given":"Jun","family":"Porto","sequence":"additional","affiliation":[]},{"given":"Ana Carolina","family":"de Carvalho","sequence":"additional","affiliation":[]},{"given":"Marcus","family":"Matsushita","sequence":"additional","affiliation":[]},{"given":"Gabriela","family":"Oliveira","sequence":"additional","affiliation":[]},{"given":"Kari","family":"Syrj\u00e4nen","sequence":"additional","affiliation":[]},{"given":"Rui Manuel","family":"Reis","sequence":"additional","affiliation":[]},{"given":"Denise Peixoto","family":"Guimar\u00e3es","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2022,6,28]]},"reference":[{"key":"1294_CR1","doi-asserted-by":"publisher","first-page":"209","DOI":"10.3322\/caac.21660","volume":"71","author":"H Sung","year":"2021","unstructured":"Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, et al. Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2021;71:209\u201349.","journal-title":"CA Cancer J Clin"},{"key":"1294_CR2","unstructured":"INCA. Estimativa 2020: Incid\u00eancia de C\u00e2ncer no Brasil. Minist\u00e9rio da Sa\u00fade: Instituto Nacional de C\u00e2ncer Jos\u00e9 de alencar Gomes da Silva (INCA); 2019."},{"key":"1294_CR3","first-page":"1147","volume":"3","author":"FL Martin","year":"2020","unstructured":"Martin FL, Morais CLM, Sakita JY, Uyemura SA, Kannen V. Age-related and gender-related increases in colorectal cancer mortality rates in Brazil between 1979 and 2015: projections for continuing rises in disease. J Gastrointest Cancer. 2020;3:1147.","journal-title":"J Gastrointest Cancer."},{"key":"1294_CR4","doi-asserted-by":"publisher","first-page":"1082","DOI":"10.1097\/DCR.0000000000000186","volume":"57","author":"DLB Souza","year":"2014","unstructured":"Souza DLB, Jerez-Roig J, Cabral FJ, De Lima JRF, Rutalira MK, Costa JAG. Colorectal cancer mortality in Brazil: predictions until the year 2025 and cancer control implications. Dis Colon Rectum. 2014;57:1082\u20139.","journal-title":"Dis Colon Rectum"},{"key":"1294_CR5","doi-asserted-by":"publisher","first-page":"683","DOI":"10.1136\/gutjnl-2015-310912","volume":"66","author":"M Arnold","year":"2017","unstructured":"Arnold M, Sierra MS, Laversanne M, Soerjomataram I, Jemal A, Bray F. Global patterns and trends in colorectal cancer incidence and mortality. Gut. 2017;66:683\u201391.","journal-title":"Gut"},{"key":"1294_CR6","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1056\/NEJM198809013190901","volume":"319","author":"B Vogelstein","year":"1988","unstructured":"Vogelstein B, Fearon ER, Hamilton SR, Kern SE, Preisinger AC, Leppert M, et al. Genetic alterations during CRC development. N Engl J Med. 1988;319:525\u201332.","journal-title":"N Engl J Med"},{"key":"1294_CR7","first-page":"887","volume":"1","author":"EJ Kuipers","year":"2015","unstructured":"Kuipers EJ, Grady WM, Lieberman D, Seufferlein T, Sung JJ, Boelens PG, et al. Colorectal cancer. Nat Rev Dis Prim. 2015;1:887.","journal-title":"Nat Rev Dis Prim."},{"key":"1294_CR8","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1053\/j.gastro.2020.04.004","volume":"159","author":"D Li","year":"2020","unstructured":"Li D, Liu L, Fevrier HB, Alexeeff SE, Doherty AR, Raju M, et al. Increased risk of colorectal cancer in individuals with a history of serrated polyps. Gastroenterology. 2020;159:502-511.e2.","journal-title":"Gastroenterology"},{"key":"1294_CR9","doi-asserted-by":"publisher","first-page":"991","DOI":"10.1136\/gutjnl-2014-309041","volume":"64","author":"JE East","year":"2015","unstructured":"East JE, Vieth M, Rex DK. Serrated lesions in colorectal cancer screening: detection, resection, pathology and surveillance. Gut. 2015;64:991\u20131000.","journal-title":"Gut"},{"key":"1294_CR10","doi-asserted-by":"publisher","first-page":"e84","DOI":"10.1038\/ctg.2015.12","volume":"6","author":"D Kedrin","year":"2015","unstructured":"Kedrin D, Gala MK. Genetics of the serrated pathway to colorectal cancer. Clin Transl Gastroenterol. 2015;6:e84\u201393.","journal-title":"Clin Transl Gastroenterol"},{"key":"1294_CR11","doi-asserted-by":"publisher","first-page":"2634","DOI":"10.3748\/wjg.v20.i10.2634","volume":"20","author":"L Yamane","year":"2014","unstructured":"Yamane L, Scapulatempo-Neto C, Reis RM, Guimar\u00e3es DP. Serrated pathway in colorectal carcinogenesis. World J Gastroenterol. 2014;20:2634\u201340.","journal-title":"World J Gastroenterol"},{"key":"1294_CR12","unstructured":"WHO Classification of Tumours Editorial Board. WHO classification of Tumours. Digestive System Tumours. 5th edition. Lyon: World Health Organization; 2019."},{"key":"1294_CR13","doi-asserted-by":"publisher","first-page":"2088","DOI":"10.1053\/j.gastro.2009.12.066","volume":"138","author":"B Leggett","year":"2010","unstructured":"Leggett B, Whitehall V. Role of the serrated pathway in colorectal cancer pathogenesis. Gastroenterology. 2010;138:2088\u2013100.","journal-title":"Gastroenterology"},{"key":"1294_CR14","doi-asserted-by":"publisher","first-page":"607","DOI":"10.3748\/wjg.v19.i5.607","volume":"19","author":"\u00c1V Patai","year":"2013","unstructured":"Patai \u00c1V, Moln\u00e1r B, Tulassay Z, Sipos F. Serrated pathway: alternative route to colorectal cancer. World J Gastroenterol. 2013;19:607\u201315.","journal-title":"World J Gastroenterol"},{"key":"1294_CR15","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1146\/annurev.pathol.4.110807.092317","volume":"4","author":"AE Noffsinger","year":"2009","unstructured":"Noffsinger AE. Serrated polyps and colorectal cancer: new pathway to malignancy. Annu Rev Pathol Mech Dis. 2009;4:343\u201364.","journal-title":"Annu Rev Pathol Mech Dis"},{"key":"1294_CR16","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41598-018-37186-2","volume":"9","author":"W dos Santos","year":"2019","unstructured":"dos Santos W, Sobanski T, de Carvalho AC, Evangelista AF, Matsushita M, Berardinelli GN, et al. Mutation profiling of cancer drivers in Brazilian colorectal cancer. Sci Rep. 2019;9:1\u201313.","journal-title":"Sci Rep"},{"key":"1294_CR17","doi-asserted-by":"publisher","first-page":"1977","DOI":"10.1056\/NEJM199312303292701","volume":"329","author":"S Winawer","year":"1993","unstructured":"Winawer S, Zauber A, Ho M, O\u2019Brien M, Gottlieb LSSS, et al. Prevention of colorectal cancer by colonoscopic polypectomy. The National Polyp Study Workgroup. N Engl J Med. 1993;329:1977\u201381.","journal-title":"N Engl J Med."},{"key":"1294_CR18","doi-asserted-by":"publisher","first-page":"1637","DOI":"10.1136\/gutjnl-2014-309086","volume":"64","author":"EH Schreuders","year":"2015","unstructured":"Schreuders EH, Ruco A, Rabeneck L, Schoen RE, Sung JJY, Young GP, et al. Colorectal cancer screening: a global overview of existing programmes. Gut. 2015;64:1637\u201349.","journal-title":"Gut"},{"key":"1294_CR19","doi-asserted-by":"publisher","first-page":"1217","DOI":"10.1053\/j.gastro.2016.08.053","volume":"152","author":"DJ Robertson","year":"2017","unstructured":"Robertson DJ, Lee JK, Boland CR, Dominitz JA, Giardiello FM, Johnson DA, et al. Recommendations on fecal immunochemical testing to screen for colorectal neoplasia: a consensus statement by the US multi-society task force on colorectal cancer. Gastroenterology. 2017;152:1217-1237.e3.","journal-title":"Gastroenterology"},{"key":"1294_CR20","doi-asserted-by":"publisher","first-page":"1287","DOI":"10.1056\/NEJMoa1311194","volume":"370","author":"TF Imperiale","year":"2014","unstructured":"Imperiale TF, Ransohoff DF, Itzkowitz SH, Levin TR, Lavin P, Lidgard GP, et al. Multitarget stool DNA testing for colorectal-cancer screening. N Engl J Med. 2014;370:1287\u201397.","journal-title":"N Engl J Med"},{"key":"1294_CR21","doi-asserted-by":"publisher","first-page":"1337","DOI":"10.1373\/clinchem.2008.115808","volume":"55","author":"T DeVos","year":"2009","unstructured":"DeVos T, Tetzner R, Model F, Weiss G, Schuster M, Distler J, et al. Circulating methylated SEPT9 DNA in plasma is a biomarker for colorectal cancer. Clin Chem. 2009;55:1337\u201346.","journal-title":"Clin Chem"},{"key":"1294_CR22","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1590\/1678-4685-gmb-2017-0133","volume":"41","author":"A Cruvinel-Carloni","year":"2018","unstructured":"Cruvinel-Carloni A, Yamane L, Scapulatempo-Neto C, Guimar\u00e3es D, Reis RM. Absence of TERT promoter mutations in colorectal precursor lesions and cancer. Genet Mol Biol. 2018;41:82\u20134.","journal-title":"Genet Mol Biol"},{"key":"1294_CR23","doi-asserted-by":"publisher","first-page":"1419","DOI":"10.3892\/or.2014.3338","volume":"32","author":"LS Yamane","year":"2014","unstructured":"Yamane LS, Scapulatempo-Neto C, Alvarenga L, Oliveira CZ, Berardinelli GN, Almodova E, et al. KRAS and BRAF mutations and MSI status in precursor lesions of colorectal cancer detected by colonoscopy. Oncol Rep. 2014;32:1419\u201326.","journal-title":"Oncol Rep"},{"key":"1294_CR24","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1158\/1940-6207.CAPR-20-0179","volume":"14","author":"DP Guimar\u00e3es","year":"2021","unstructured":"Guimar\u00e3es DP, Mantuan LA, de Oliveira MA, Junior RL, da Costa AM, Rossi S, et al. The performance of colorectal cancer screening in Brazil: the first two years of the implementation program in barretos cancer hospital. Cancer Prev Res. 2021;14:241\u201352.","journal-title":"Cancer Prev Res"},{"key":"1294_CR25","doi-asserted-by":"publisher","first-page":"261","DOI":"10.21873\/anticanres.13106","volume":"39","author":"DP Guimar\u00e3es","year":"2019","unstructured":"Guimar\u00e3es DP, Fregnani JH, Reis RM, Taveira LN, Scapulatempo-Neto C, Matsushita M, et al. Comparison of a new-generation fecal immunochemical test (FIT) with guaiac fecal occult blood test (gFOBT) in detecting colorectal neoplasia among colonoscopy-referral patients. Anticancer Res. 2019;39:261\u20139.","journal-title":"Anticancer Res"},{"key":"1294_CR26","doi-asserted-by":"publisher","first-page":"2114","DOI":"10.1002\/cam4.2098","volume":"8","author":"JC de Oliveira","year":"2019","unstructured":"de Oliveira JC, Viana DV, Zanardo C, Santos EMM, de Paula AE, Palmero EI, et al. Genotype-phenotype correlation in 99 familial adenomatous polyposis patients: a prospective prevention protocol. Cancer Med. 2019;8:2114\u201322.","journal-title":"Cancer Med"},{"key":"1294_CR27","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1002\/cam4.1316","volume":"7","author":"NB Schneider","year":"2018","unstructured":"Schneider NB, Pastor T, de Paula AE, Achatz MI, dos Santos \u00c2R, Vianna FSL, et al. Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome. Cancer Med. 2018;7:2078\u201388.","journal-title":"Cancer Med"},{"issue":"6 Supplement","key":"1294_CR28","doi-asserted-by":"publisher","first-page":"S3","DOI":"10.1016\/S0016-5107(03)02159-X","volume":"58","author":"Participants in the Paris Workshop","year":"2003","unstructured":"Participants in the Paris Workshop. The Paris endoscopic classification of superficial neoplastic lesions: esophagus, stomach, and colon. Gastrointest Endosc. 2003;58(6 Supplement):S3-43.","journal-title":"Gastrointest Endosc"},{"key":"1294_CR29","first-page":"447","volume":"9","author":"AC Neuber","year":"2021","unstructured":"Neuber AC, Tostes CH, Ribeiro AG, Marczynski GT, Komoto TT, Rogeri CD, et al. The biobank of barretos cancer hospital: 14 years of experience in cancer research. Cell Tissue Bank. 2021;9:447.","journal-title":"Cell Tissue Bank."},{"key":"1294_CR30","doi-asserted-by":"publisher","first-page":"885","DOI":"10.3389\/fonc.2020.00145","volume":"10","author":"RO Dur\u00e3es","year":"2020","unstructured":"Dur\u00e3es RO, Berardinelli GN, da Costa AM, Scapulatempo-Neto C, Pereira R, Oliveira MA, et al. Role of genetic ancestry in 1002 Brazilian colorectal cancer patients from barretos cancer hospital. Front Oncol. 2020;10:885.","journal-title":"Front Oncol."},{"key":"1294_CR31","doi-asserted-by":"publisher","first-page":"3347","DOI":"10.1371\/journal.pone.0029684","volume":"7","author":"R Pereira","year":"2012","unstructured":"Pereira R, Phillips C, Pinto N, Santos C, dos Santos SEB, Amorim A, et al. Straightforward inference of ancestry and admixture proportions through ancestry-informative insertion deletion multiplexing. PLoS One. 2012;7:3347.","journal-title":"PLoS One."},{"key":"1294_CR32","doi-asserted-by":"publisher","first-page":"1567","DOI":"10.1093\/genetics\/164.4.1567","volume":"164","author":"D Falush","year":"2003","unstructured":"Falush D, Stephens M, Pritchard JK. Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies. Genetics. 2003;164:1567\u201387.","journal-title":"Genetics"},{"key":"1294_CR33","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1093\/genetics\/155.2.945","volume":"155","author":"JK Pritchard","year":"2000","unstructured":"Pritchard JK, Stephens M, Donnelly P. Inference of population structure using multilocus genotype data. Genetics. 2000;155:945\u201359.","journal-title":"Genetics"},{"key":"1294_CR34","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1016\/0092-8674(90)90186-I","volume":"61","author":"E Fearon","year":"1990","unstructured":"Fearon E, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell. 1990;61:759\u201367.","journal-title":"Cell"},{"key":"1294_CR35","doi-asserted-by":"publisher","first-page":"1661","DOI":"10.1038\/s41559-018-0642-z","volume":"2","author":"W Cross","year":"2018","unstructured":"Cross W, Kovac M, Mustonen V, Temko D, Davis H, Baker AM, et al. The evolutionary landscape of colorectal tumorigenesis. Nat Ecol Evol. 2018;2:1661\u201372.","journal-title":"Nat Ecol Evol"},{"key":"1294_CR36","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41467-018-05226-0","volume":"9","author":"T Saito","year":"2018","unstructured":"Saito T, Niida A, Uchi R, Hirata H, Komatsu H, Sakimura S, et al. A temporal shift of the evolutionary principle shaping intratumor heterogeneity in colorectal cancer. Nat Commun. 2018;9:1\u201311.","journal-title":"Nat Commun"},{"key":"1294_CR37","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1038\/ng.3214","volume":"47","author":"A Sottoriva","year":"2015","unstructured":"Sottoriva A, Kang H, Ma Z, Graham TA, Salomon MP, Zhao J, et al. A Big Bang model of human colorectal tumor growth. Nat Genet. 2015;47:209\u201316.","journal-title":"Nat Genet"},{"key":"1294_CR38","doi-asserted-by":"publisher","first-page":"1299","DOI":"10.1136\/gutjnl-2016-313573","volume":"67","author":"SH Lin","year":"2018","unstructured":"Lin SH, Raju GS, Huff C, Ye Y, Gu J, Chen JS, et al. The somatic mutation landscape of premalignant colorectal adenoma. Gut. 2018;67:1299\u2013305.","journal-title":"Gut"},{"key":"1294_CR39","doi-asserted-by":"publisher","first-page":"2185","DOI":"10.1016\/j.celrep.2017.05.051","volume":"19","author":"N Lugli","year":"2017","unstructured":"Lugli N, Dionellis VS, Ord\u00f3\u00f1ez-Mor\u00e1n P, Kamileri I, Sotiriou SK, Huelsken J, et al. Enhanced rate of acquisition of point mutations in mouse intestinal adenomas compared to normal tissue. Cell Rep. 2017;19:2185\u201392.","journal-title":"Cell Rep"},{"key":"1294_CR40","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13000-018-0771-3","volume":"13","author":"T Murakami","year":"2018","unstructured":"Murakami T, Akazawa Y, Yatagai N, Hiromoto T, Sasahara N, Saito T, et al. Molecular characterization of sessile serrated adenoma\/polyps with dysplasia\/carcinoma based on immunohistochemistry, next-generation sequencing, and microsatellite instability testing: a case series study. Diagn Pathol. 2018;13:1\u201310.","journal-title":"Diagn Pathol"},{"key":"1294_CR41","doi-asserted-by":"publisher","first-page":"2061","DOI":"10.1093\/annonc\/mdy337","volume":"29","author":"K Chang","year":"2018","unstructured":"Chang K, Willis JA, Reumers J, Taggart MW, San Lucas FA, Thirumurthi S, et al. Colorectal premalignancy is associated with consensus molecular subtypes 1 and 2. Ann Oncol. 2018;29:2061\u20137.","journal-title":"Ann Oncol"},{"key":"1294_CR42","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1002\/path.5129","volume":"246","author":"MA Komor","year":"2018","unstructured":"Komor MA, Bosch LJW, Bounova G, Bolijn AS, Delis-van Diemen PM, Rausch C, et al. Consensus molecular subtype classification of colorectal adenomas. J Pathol. 2018;246:266\u201376.","journal-title":"J Pathol"},{"key":"1294_CR43","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41598-018-21525-4","volume":"8","author":"BR Druliner","year":"2018","unstructured":"Druliner BR, Wang P, Bae T, Baheti S, Slettedahl S, Mahoney D, et al. Molecular characterization of colorectal adenomas with and without malignancy reveals distinguishing genome, transcriptome and methylome alterations. Sci Rep. 2018;8:1\u201310.","journal-title":"Sci Rep"},{"key":"1294_CR44","doi-asserted-by":"publisher","first-page":"27412","DOI":"10.18632\/oncotarget.25287","volume":"9","author":"Z Liu","year":"2018","unstructured":"Liu Z, Yang C, Li X, Luo W, Roy B, Xiong T, et al. The landscape of somatic mutation in sporadic Chinese colorectal cancer. Oncotarget. 2018;9:27412\u201322.","journal-title":"Oncotarget"},{"key":"1294_CR45","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1016\/j.ebiom.2018.12.009","volume":"39","author":"MCJ van Lanschot","year":"2019","unstructured":"van Lanschot MCJ, Carvalho B, Rausch C, Snaebjornsson P, van Engeland M, Kuipers EJ, et al. Molecular profiling of longitudinally observed small colorectal polyps: a cohort study. EBioMedicine. 2019;39:292\u2013300.","journal-title":"EBioMedicine"},{"key":"1294_CR46","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1007\/s12253-016-0154-6","volume":"23","author":"\u00c1V Patai","year":"2017","unstructured":"Patai \u00c1V, Bart\u00e1k BK, P\u00e9terfia B, Micsik T, Horv\u00e1th R, Sum\u00e1nszki C, et al. Comprehensive DNA methylation and mutation analyses reveal a methylation signature in colorectal sessile serrated adenomas. Pathol Oncol Res. 2017;23:589\u201394.","journal-title":"Pathol Oncol Res"},{"key":"1294_CR47","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1016\/j.cell.2018.02.060","volume":"173","author":"MH Bailey","year":"2018","unstructured":"Bailey MH, Tokheim C, Porta-Pardo E, Sengupta S, Bertrand D, Weerasinghe A, et al. Comprehensive characterization of cancer driver genes and mutations. Cell. 2018;173:371-385.e18.","journal-title":"Cell"},{"key":"1294_CR48","doi-asserted-by":"publisher","first-page":"1350","DOI":"10.1038\/nm.3967","volume":"21","author":"J Guinney","year":"2015","unstructured":"Guinney J, Dienstmann R, Wang X, De Reyni\u00e8s A, Schlicker A, Soneson C, et al. The consensus molecular subtypes of colorectal cancer. Nat Med. 2015;21:1350\u20136.","journal-title":"Nat Med"},{"key":"1294_CR49","doi-asserted-by":"publisher","first-page":"2132","DOI":"10.1136\/gutjnl-2016-312232","volume":"66","author":"CK Sievers","year":"2017","unstructured":"Sievers CK, Zou LS, Pickhardt PJ, Matkowskyj KA, Albrecht DM, Clipson L, et al. Subclonal diversity arises early even in small colorectal tumours and contributes to differential growth fates. Gut. 2017;66:2132\u201340.","journal-title":"Gut"},{"key":"1294_CR50","doi-asserted-by":"publisher","first-page":"17265","DOI":"10.18632\/oncotarget.7504","volume":"7","author":"C Yi","year":"2016","unstructured":"Yi C, Huang Y, Yu X, Li X, Zheng S, Ding K, et al. Clinicopathologic distribution of KRAS and BRAF mutations in a Chinese population with colorectal cancer precursor lesions. Oncotarget. 2016;7:17265\u201374.","journal-title":"Oncotarget"},{"key":"1294_CR51","doi-asserted-by":"publisher","first-page":"1012","DOI":"10.1002\/humu.20980","volume":"30","author":"A Rohlin","year":"2009","unstructured":"Rohlin A, Wernersson J, Engwall Y, Wiklund L, Bj\u00f6rk J, Nordling M. Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques. Hum Mutat. 2009;30:1012\u201320.","journal-title":"Hum Mutat"},{"key":"1294_CR52","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1056\/NEJMoa1314432","volume":"371","author":"SS Jamuar","year":"2014","unstructured":"Jamuar SS, Lam A-TN, Kircher M, D\u2019Gama AM, Wang J, Barry BJ, et al. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014;371:733\u201343.","journal-title":"N Engl J Med."},{"key":"1294_CR53","doi-asserted-by":"publisher","first-page":"1645","DOI":"10.1136\/gutjnl-2016-311849","volume":"66","author":"HHN Yan","year":"2017","unstructured":"Yan HHN, Lai JCW, Ho SL, Leung WK, Law WL, Lee JFY, et al. RNF43 germline and somatic mutation in serrated neoplasia pathway and its association with BRAF mutation. Gut. 2017;66:1645\u201356.","journal-title":"Gut"},{"key":"1294_CR54","doi-asserted-by":"publisher","first-page":"6279","DOI":"10.1158\/0008-5472.CAN-12-3869","volume":"72","author":"SI Nikolaev","year":"2012","unstructured":"Nikolaev SI, Sotiriou SK, Pateras IS, Santoni F, Sougioultzis S, Edgren H, et al. A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas. Cancer Res. 2012;72:6279\u201389.","journal-title":"Cancer Res"},{"key":"1294_CR55","first-page":"1","volume":"10","author":"R Kim","year":"2015","unstructured":"Kim R, Schell MJ, Teer JK, Greenawalt DM, Yang M, Yeatman TJ. Co-evolution of somatic variation in primary and metastatic colorectal cancer may expand biopsy indications in the molecular era. PLoS ONE. 2015;10:1\u201312.","journal-title":"PLoS ONE"},{"key":"1294_CR56","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1371\/journal.pgen.1005778","volume":"12","author":"R Uchi","year":"2016","unstructured":"Uchi R, Takahashi Y, Niida A, Shimamura T, Hirata H, Sugimachi K, et al. Integrated multiregional analysis proposing a new model of colorectal cancer evolution. PLoS Genet. 2016;12:1\u201324.","journal-title":"PLoS Genet"},{"key":"1294_CR57","doi-asserted-by":"publisher","first-page":"3082","DOI":"10.1158\/1078-0432.CCR-03-0334","volume":"10","author":"K Konishi","year":"2004","unstructured":"Konishi K, Yamochi T, Makino R, Kaneko K, Yamamoto T, Nozawa H, et al. Molecular differences between sporadic serrated and conventional colorectal adenomas. Clin Cancer Res. 2004;10:3082\u201390.","journal-title":"Clin Cancer Res"},{"key":"1294_CR58","doi-asserted-by":"publisher","first-page":"330","DOI":"10.1038\/nature11252","volume":"487","author":"DM Muzny","year":"2012","unstructured":"Muzny DM, Bainbridge MN, Chang K, Dinh HH, Drummond JA, Fowler G, et al. Comprehensive molecular characterization of human colon and rectal cancer. Nature. 2012;487:330\u20137.","journal-title":"Nature"},{"key":"1294_CR59","doi-asserted-by":"publisher","first-page":"1847","DOI":"10.1016\/j.ajpath.2012.08.007","volume":"181","author":"E Yamamoto","year":"2012","unstructured":"Yamamoto E, Suzuki H, Yamano HO, Maruyama R, Nojima M, Kamimae S, et al. Molecular dissection of premalignant colorectal lesions reveals early onset of the CpG island methylator phenotype. Am J Pathol. 2012;181:1847\u201361.","journal-title":"Am J Pathol"},{"key":"1294_CR60","doi-asserted-by":"publisher","first-page":"27725","DOI":"10.18632\/oncotarget.4834","volume":"6","author":"TM Kim","year":"2015","unstructured":"Kim TM, An CH, Rhee JK, Jung SH, Lee SH, Baek IP, et al. Clonal origins and parallel evolution of regionally synchronous colorectal adenoma and carcinoma. Oncotarget. 2015;6:27725\u201335.","journal-title":"Oncotarget"},{"key":"1294_CR61","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1002\/ijc.26440","volume":"131","author":"VLJ Whitehall","year":"2012","unstructured":"Whitehall VLJ, Rickman C, Bond CE, Ramsnes I, Greco SA, Umapathy A, et al. Oncogenic PIK3CA mutations in colorectal cancers and polyps. Int J Cancer. 2012;131:813\u201320.","journal-title":"Int J Cancer"},{"key":"1294_CR62","doi-asserted-by":"publisher","first-page":"72352","DOI":"10.18632\/oncotarget.20376","volume":"8","author":"P-Y Chang","year":"2017","unstructured":"Chang P-Y, Chen J-S, Chang S-C, Wang M-C, Chang N-C, Wen Y-H, et al. Acquired somatic TP53 or PIK3CA mutations are potential predictors of when polyps evolve into colorectal cancer. Oncotarget. 2017;8:72352\u201362.","journal-title":"Oncotarget"},{"key":"1294_CR63","doi-asserted-by":"publisher","first-page":"1188","DOI":"10.1097\/PAS.0000000000000877","volume":"41","author":"T Hashimoto","year":"2017","unstructured":"Hashimoto T, Yamashita S, Yoshida H, Taniguchi H, Ushijima T, Yamada T, et al. WNT pathway gene mutations are associated with the presence of dysplasia in colorectal sessile serrated adenoma\/polyps. Am J Surg Pathol. 2017;41:1188\u201397.","journal-title":"Am J Surg Pathol"},{"key":"1294_CR64","doi-asserted-by":"publisher","first-page":"1208","DOI":"10.1038\/ejhg.2013.310","volume":"22","author":"G Hernandez-Suarez","year":"2014","unstructured":"Hernandez-Suarez G, Sanabria MC, Serrano M, Herran OF, Perez J, Plata JL, et al. Genetic ancestry is associated with colorectal adenomas and adenocarcinomas in Latino populations. Eur J Hum Genet. 2014;22:1208\u201316.","journal-title":"Eur J Hum Genet"},{"key":"1294_CR65","doi-asserted-by":"publisher","first-page":"1467","DOI":"10.1111\/j.1365-2036.2012.05119.x","volume":"35","author":"B Lebwohl","year":"2012","unstructured":"Lebwohl B, Capiak K, Neugut AI, Kastrinos F. Risk of colorectal adenomas and advanced neoplasia in Hispanic, black and white patients undergoing screening colonoscopy. Aliment Pharmacol Ther. 2012;35:1467\u201373.","journal-title":"Aliment Pharmacol Ther"},{"key":"1294_CR66","doi-asserted-by":"publisher","first-page":"13","DOI":"10.7326\/0003-4819-159-1-201307020-00004","volume":"159","author":"PC Schroy","year":"2013","unstructured":"Schroy PC, Coe A, Chen CA, O\u2019Brien MJ, Heeren TC. Prevalence of advanced colorectal neoplasia in white and black patients undergoing screening colonoscopy in a Safety-Net Hospital. Ann Intern Med. 2013;159:13.","journal-title":"Ann Intern Med"},{"key":"1294_CR67","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1086\/303004","volume":"67","author":"J Alves-Silva","year":"2000","unstructured":"Alves-Silva J, da Silva SM, Guimar\u00e3es PEM, Ferreira ACS, Bandelt HJ, Pena SDJ, et al. The ancestry of Brazilian mtDNA lineages. Am J Hum Genet. 2000;67:444\u201361.","journal-title":"Am J Hum Genet"},{"key":"1294_CR68","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1038\/ejhg.2011.144","volume":"20","author":"SR Giolo","year":"2012","unstructured":"Giolo SR, Soler JMP, Greenway SC, Almeida MAA, De Andrade M, Seidman JG, et al. Brazilian urban population genetic structure reveals a high degree of admixture. Eur J Hum Genet. 2012;20:111\u20136.","journal-title":"Eur J Hum Genet"},{"key":"1294_CR69","doi-asserted-by":"publisher","first-page":"730","DOI":"10.1016\/j.ccell.2021.04.013","volume":"39","author":"L Saulsberry","year":"2021","unstructured":"Saulsberry L, Olopade OI. Precision oncology: directing genomics and pharmacogenomics toward reducing cancer inequities. Cancer Cell. 2021;39:730\u20133.","journal-title":"Cancer Cell"},{"key":"1294_CR70","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1038\/538161a","volume":"538","author":"AB Popejoy","year":"2016","unstructured":"Popejoy AB, Fullerton SM. Genomics is failing on diversity. Nature. 2016;538:161\u20134.","journal-title":"Nature"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-022-01294-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12920-022-01294-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-022-01294-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,25]],"date-time":"2022-10-25T21:06:51Z","timestamp":1666732011000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-022-01294-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,28]]},"references-count":70,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["1294"],"URL":"https:\/\/doi.org\/10.1186\/s12920-022-01294-w","relation":{},"ISSN":["1755-8794"],"issn-type":[{"value":"1755-8794","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,28]]},"assertion":[{"value":"2 November 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 June 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 June 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The Ethics Committee - Barretos Cancer Hospital approved the study on number ID: 1074\/2016. The need for Informed consent was waived by the Ethics Committee of Barretos Cancer Hospital due to the retrospective nature of this study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"143"}}