{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T10:25:19Z","timestamp":1771064719596,"version":"3.50.1"},"reference-count":44,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2012,2,9]],"date-time":"2012-02-09T00:00:00Z","timestamp":1328745600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Cancer"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Lynch syndrome (LS) is the most common form of inherited predisposition to colorectal cancer (CRC), accounting for 2-5% of all CRC. LS is an autosomal dominant disease characterized by mutations in the mismatch repair genes mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), postmeiotic segregation increased 1 (PMS1), post-meiotic segregation increased 2 (PMS2) and mutS homolog 6 (MSH6). Mutation risk prediction models can be incorporated into clinical practice, facilitating the decision-making process and identifying individuals for molecular investigation. This is extremely important in countries with limited economic resources. This study aims to evaluate sensitivity and specificity of five predictive models for germline mutations in repair genes in a sample of individuals with suspected Lynch syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Blood samples from 88 patients were analyzed through sequencing MLH1, MSH2 and MSH6 genes. The probability of detecting a mutation was calculated using the PREMM, Barnetson, MMRpro, Wijnen and Myriad models. To evaluate the sensitivity and specificity of the models, receiver operating characteristic curves were constructed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of the 88 patients included in this analysis, 31 mutations were identified: 16 were found in the MSH2 gene, 15 in the MLH1 gene and no pathogenic mutations were identified in the MSH6 gene. It was observed that the AUC for the PREMM (0.846), Barnetson (0.850), MMRpro (0.821) and Wijnen (0.807) models did not present significant statistical difference. The Myriad model presented lower AUC (0.704) than the four other models evaluated. Considering thresholds of \u2265 5%, the models sensitivity varied between 1 (Myriad) and 0.87 (Wijnen) and specificity ranged from 0 (Myriad) to 0.38 (Barnetson).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The Barnetson, PREMM, MMRpro and Wijnen models present similar AUC. The AUC of the Myriad model is statistically inferior to the four other models.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1471-2407-12-64","type":"journal-article","created":{"date-parts":[[2012,2,9]],"date-time":"2012-02-09T21:14:21Z","timestamp":1328822061000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries"],"prefix":"10.1186","volume":"12","author":[{"given":"Erika Maria","family":"Monteiro Santos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mev Dominguez","family":"Valentin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felipe","family":"Carneiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ligia Petrolini","family":"de Oliveira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabio","family":"de Oliveira Ferreira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel Aguiar","family":"Junior","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilson Toshihiko","family":"Nakagawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Israel","family":"Gomy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor Evangelista","family":"de Faria Ferraz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilson Araujo","family":"da Silva Junior","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dirce Maria","family":"Carraro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benedito Mauro","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,2,9]]},"reference":[{"issue":"4","key":"3064_CR1","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1007\/s10689-010-9373-2","volume":"9","author":"FC da Silva","year":"2010","unstructured":"da Silva FC, de Oliveira LP, Santos EM, Nakagawa WT, Aguiar Junior S, Valentin MD, Rossi BM, de Oliveira Ferreira F: Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry. Fam Cancer. 2010, 9 (4): 563-70. 10.1007\/s10689-010-9373-2.","journal-title":"Fam Cancer"},{"issue":"7","key":"3064_CR2","first-page":"741","volume":"83","author":"HT Lynch","year":"1988","unstructured":"Lynch HT, Ens J, Lynch JF, Watson P: Tumor variation in three extended Lynch syndrome II kindreds. Am J Gastroenterol. 1988, 83 (7): 741-747.","journal-title":"Am J Gastroenterol"},{"issue":"4","key":"3064_CR3","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1097\/00001622-199307000-00013","volume":"5","author":"HT Lynch","year":"1993","unstructured":"Lynch HT, Lynch JF: The Lynch syndromes. Curr Opin Oncol. 1993, 5 (4): 687-696. 10.1097\/00001622-199307000-00013.","journal-title":"Curr Opin Oncol"},{"issue":"4","key":"3064_CR4","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1007\/BF02235755","volume":"41","author":"KM Lin","year":"1998","unstructured":"Lin KM, Shashidharan M, Ternent CA, et al: Colorectal and extracolonic cancer variations in MLH1\/MSH2 hereditary non- polyposis colorectal cancer kindreds and the general population. Dis Colon Rectum. 1998, 41 (4): 428-433. 10.1007\/BF02235755.","journal-title":"Dis Colon Rectum"},{"key":"3064_CR5","volume-title":"Fam Cancer","author":"MD Valentin","year":"2011","unstructured":"Valentin MD, Silva FC, Santos EM, Lisboa BG, de Oliveira LP, Ferreira FD, Gomy I, Nakagawa WT, Aguiar Junior S, Redal M, Vaccaro C, Valle AD, Sarroca C, Carraro DM, Rossi BM: Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. Fam Cancer. 2011,"},{"issue":"5","key":"3064_CR6","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1007\/BF02053699","volume":"34","author":"HF Vasen","year":"1991","unstructured":"Vasen HF, Mecklin JP, Khan PM, Lynch HT: The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991, 34 (5): 424-5. 10.1007\/BF02053699.","journal-title":"Dis Colon Rectum"},{"key":"3064_CR7","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1016\/S0016-5085(99)70510-X","volume":"116","author":"HF Vasen","year":"1999","unstructured":"Vasen HF, Watson P, Mecklin JP, Lynch HT: New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999, 116: 1453-6. 10.1016\/S0016-5085(99)70510-X.","journal-title":"Gastroenterology"},{"key":"3064_CR8","doi-asserted-by":"publisher","first-page":"1552","DOI":"10.1136\/bmj.308.6943.1552","volume":"308","author":"DG Altman","year":"1994","unstructured":"Altman DG, Bland JM: Diagnotic tests 1: sensivity and specitivity. BMJ. 1994, 308: 1552-10.1136\/bmj.308.6943.1552.","journal-title":"BMJ"},{"key":"3064_CR9","doi-asserted-by":"publisher","first-page":"1758","DOI":"10.1093\/jnci\/89.23.1758","volume":"89","author":"MA Rodriguez-Bigas","year":"1997","unstructured":"Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al: A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst. 1997, 89: 1758-62. 10.1093\/jnci\/89.23.1758.","journal-title":"J Natl Cancer Inst"},{"key":"3064_CR10","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1093\/jnci\/djh034","volume":"96","author":"A Umar","year":"2004","unstructured":"Umar A, Boland CR, Terdiman JP, et al: Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004, 96: 261-8. 10.1093\/jnci\/djh034.","journal-title":"J Natl Cancer Inst"},{"issue":"3","key":"3064_CR11","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1007\/s10689-004-7993-0","volume":"4","author":"P Peltom\u00e4ki","year":"2005","unstructured":"Peltom\u00e4ki P, Vasen HF: Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology. 1997;113(4):1146-58. de la Chapelle A. The incidence of Lynch syndrome. Fam Cancer. 2005, 4 (3): 233-7. 10.1007\/s10689-004-5811-3.","journal-title":"Fam Cancer"},{"issue":"3","key":"3064_CR12","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1007\/s10689-004-5811-3","volume":"4","author":"A de la Chapelle","year":"2005","unstructured":"de la Chapelle A: The incidence of Lynch syndrome. Fam Cancer. 2005, 4 (3): 233-7. 10.1007\/s10689-004-5811-3.","journal-title":"Fam Cancer"},{"key":"3064_CR13","doi-asserted-by":"publisher","first-page":"1047","DOI":"10.1002\/humu.20580","volume":"28","author":"J Ou","year":"2007","unstructured":"Ou J, Niessen RC, L\u00fctzen A, et al: Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. Hum Mutat. 2007, 28: 1047-54. 10.1002\/humu.20580.","journal-title":"Hum Mutat"},{"key":"3064_CR14","doi-asserted-by":"publisher","first-page":"1337","DOI":"10.1002\/humu.20907","volume":"29","author":"J Ou","year":"2008","unstructured":"Ou J, Niessen RC, Vonk J, et al: A Database to support the interpretation of human mismatch repair gene variants. Hum Mutat. 2008, 29: 1337-41. 10.1002\/humu.20907.","journal-title":"Hum Mutat"},{"key":"3064_CR15","doi-asserted-by":"publisher","first-page":"1314","DOI":"10.1002\/humu.20899","volume":"29","author":"FJ Couch","year":"2008","unstructured":"Couch FJ, Rasmussen LJ, Hofstra R, et al: Assesment of functional effects of unclassified genetic variants. Hum Mutat. 2008, 29: 1314-26. 10.1002\/humu.20899.","journal-title":"Hum Mutat"},{"key":"3064_CR16","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1016\/j.canlet.2004.09.051","volume":"223","author":"F Baudi","year":"2005","unstructured":"Baudi F, Fersini G, Lavecchia A, et al: A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy. Cancer Lett. 2005, 223: 285-91. 10.1016\/j.canlet.2004.09.051.","journal-title":"Cancer Lett"},{"issue":"5","key":"3064_CR17","doi-asserted-by":"publisher","first-page":"1326","DOI":"10.1158\/1055-9965.EPI-04-0815","volume":"14","author":"MM Johnson","year":"2005","unstructured":"Johnson MM, Houck J, Chen C: Screening for deleterious nonsynonymous single-nucleotide polymorphisms in genes involved in steroid hormone metabolism and response. Cancer Epidemiol Biomarkers Prev. 2005, 14 (5): 1326-9. 10.1158\/1055-9965.EPI-04-0815.","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"issue":"11","key":"3064_CR18","doi-asserted-by":"publisher","first-page":"844","DOI":"10.1093\/jnci\/94.11.844","volume":"94","author":"D Euhus","year":"2002","unstructured":"Euhus D, Smith K, Robinson L, Stucky A, Olopade O, Cummings S, Garber J, Chittenden A, Mills G, Rieger P, et al: Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO. J Natl Cancer Inst. 2002, 94 (11): 844-51. 10.1093\/jnci\/94.11.844.","journal-title":"J Natl Cancer Inst"},{"issue":"10","key":"3064_CR19","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1093\/jnci\/dji128","volume":"97","author":"AN Freedman","year":"2005","unstructured":"Freedman AN, Seminara D, Gail MH, Hartge P, Colditz GA, Ballard-Barbash R, Pfeiffer RM: Cancer risk prediction models: a workshop on development, evaluation, and application. J Natl Cancer Inst. 2005, 97 (10): 715-23. 10.1093\/jnci\/dji128.","journal-title":"J Natl Cancer Inst"},{"issue":"12","key":"3064_CR20","doi-asserted-by":"publisher","first-page":"1479","DOI":"10.1001\/jama.296.12.1479","volume":"296","author":"S Chen","year":"2006","unstructured":"Chen S, Wang W, Lee S, Nafa K, Lee J, Romans K, Watson P, Gruber S, Euhus D, Kinzler K, et al: Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA. 2006, 296 (12): 1479-1487. 10.1001\/jama.296.12.1479.","journal-title":"JAMA"},{"issue":"26","key":"3064_CR21","doi-asserted-by":"publisher","first-page":"2751","DOI":"10.1056\/NEJMoa053493","volume":"354","author":"R Barnetson","year":"2006","unstructured":"Barnetson R, Tenesa A, Farrington S, Nicholl I, Cetnarskyj R, Porteous M, Campbell H, Dunlop M: Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med. 2006, 354 (26): 2751-2763. 10.1056\/NEJMoa053493. model available at http:\/\/hnpccpredict.hgu.mrc.ac.uk\/","journal-title":"N Engl J Med"},{"issue":"8","key":"3064_CR22","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1056\/NEJM199808203390804","volume":"339","author":"J Wijnen","year":"1998","unstructured":"Wijnen J, Vasen H, Khan P, Zwinderman A, van der Klift H, Mulder A, Tops C, M\u00f8ller P, Fodde R: Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med. 1998, 339 (8): 511-518. 10.1056\/NEJM199808203390804.","journal-title":"N Engl J Med"},{"issue":"12","key":"3064_CR23","doi-asserted-by":"publisher","first-page":"1469","DOI":"10.1001\/jama.296.12.1469","volume":"296","author":"J Balma\u00f1a","year":"2006","unstructured":"Balma\u00f1a J, Stockwell D, Steyerberg E, Stoffel E, Deffenbaugh A, Reid J, Ward B, Scholl T, Hendrickson B, Tazelaar J, et al: Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA. 2006, 296 (12): 1469-1478. 10.1001\/jama.296.12.1469.","journal-title":"JAMA"},{"key":"3064_CR24","unstructured":"Mutation Prevalence Tables Available at [http:\/\/www.myriadtests.com\/index.php?page_id=250&amp]. Accessed at 2010"},{"issue":"5","key":"3064_CR25","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1093\/jnci\/djn499","volume":"101","author":"R Green","year":"2009","unstructured":"Green R, Parfrey P, Woods M, Younghusband H: Prediction of Lynch syndrome in consecutive patients with colorectal cancer. J Natl Cancer Inst. 2009, 101 (5): 331-340. 10.1093\/jnci\/djn499.","journal-title":"J Natl Cancer Inst"},{"issue":"1","key":"3064_CR26","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1053\/j.gastro.2007.10.042","volume":"134","author":"F Balaguer","year":"2008","unstructured":"Balaguer F, Balma\u00f1a J, Castellv\u00ed-Bel S, Steyerberg E, Andreu M, Llor X, Jover R, Syngal S, Castells A: Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients. Gastroenterology. 2008, 134 (1): 39-46. 10.1053\/j.gastro.2007.10.042.","journal-title":"Gastroenterology"},{"issue":"9","key":"3064_CR27","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1136\/jmg.2008.059311","volume":"45","author":"J Balma\u00f1a","year":"2008","unstructured":"Balma\u00f1a J, Balaguer F, Castellv\u00ed-Bel S, Steyerberg E, Andreu M, Llor X, Jover R, Castells A, Syngal S: Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients. J Med Genet. 2008, 45 (9): 557-563. 10.1136\/jmg.2008.059311. model available at http:\/\/www.dana-farber.org\/pat\/cancer\/gastrointestinal\/crc-calculator\/new-calculator.asp","journal-title":"J Med Genet"},{"issue":"4","key":"3064_CR28","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1002\/ijc.24808","volume":"126","author":"J Monzon","year":"2010","unstructured":"Monzon J, Cremin C, Armstrong L, Nuk J, Young S, Horsman D, Garbutt K, Bajdik C, Gill S: Validation of predictive models for germline mutations in DNA mismatch repair genes in colorectal cancer. Int J Cancer. 2010, 126 (4): 930-939.","journal-title":"Int J Cancer"},{"issue":"11","key":"3064_CR29","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1136\/jmg.2009.066589","volume":"46","author":"D Ramsoekh","year":"2009","unstructured":"Ramsoekh D, van Leerdam M, Wagner A, Kuipers E, Steyerberg E: Mutation prediction models in Lynch syndrome: evaluation in a clinical genetic setting. J Med Genet. 2009, 46 (11): 745-751. 10.1136\/jmg.2009.066589.","journal-title":"J Med Genet"},{"issue":"4","key":"3064_CR30","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1093\/annonc\/mdn686","volume":"20","author":"C Pouchet","year":"2009","unstructured":"Pouchet C, Wong N, Chong G, Sheehan M, Schneider G, Rosen-Sheidley B, Foulkes W, Tischkowitz M: A comparison of models used to predict MLH1, MSH2 and MSH6 mutation carriers. Ann Oncol. 2009, 20 (4): 681-688. 10.1093\/annonc\/mdn686.","journal-title":"Ann Oncol"},{"key":"3064_CR31","unstructured":"BRAZIL. Brazillian Institute of Geography and Statistics. [Caracter\u00edsticas \u00e9tnico-raciais da popula\u00e7\u00e3o: um estudo de categorias de cor e ra\u00e7a]. Rio de Janeiro, IBGE. 2008"},{"key":"3064_CR32","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1016\/j.patrec.2005.10.010","volume":"27","author":"T Fawcett","year":"2006","unstructured":"Fawcett T: An introduction to ROC analysis. Patt Recog Lett. 2006, 27: 861-874. 10.1016\/j.patrec.2005.10.010.","journal-title":"Patt Recog Lett"},{"key":"3064_CR33","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1148\/radiology.143.1.7063747","volume":"143","author":"J Hanley","year":"1982","unstructured":"Hanley J, McNeil B: The meaning and use of the area under a Receiver Operating Characteristic (ROC) curve. Radiology. 1982, 143: 29-36.","journal-title":"Radiology"},{"key":"3064_CR34","doi-asserted-by":"publisher","first-page":"837","DOI":"10.2307\/2531595","volume":"44","author":"ER DeLong","year":"1988","unstructured":"DeLong ER, DeLong DM, Clarke-Pearson DL: Comparing the areas under two or more correlated receiver operating characteristic curves: a nonparametric approach. Biometrics. 1988, 44: 837-45. 10.2307\/2531595.","journal-title":"Biometrics"},{"key":"3064_CR35","unstructured":"BRAZIL. Ministry of Health. [Rede operacional de cancer familial]. Rio de Janeiro, Instituto Nacional do C\u00e2ncer. 2009"},{"key":"3064_CR36","doi-asserted-by":"publisher","first-page":"766","DOI":"10.3748\/wjg.v17.i6.766","volume":"17","author":"P Koehler-Santos","year":"2011","unstructured":"Koehler-Santos P, Izetti P, Abud J, Pitroski CE, Cossio SL, Camey SA, Tarta C, Damin DC, Contu PC, Rosito MA, Ashton-Prolla P, Prolla JC: Identification of patients at-risk for Lynch syndrome in a hospital-based colorectal surgery clinic. World J Gastroenterol. 2011, 17: 766-73. 10.3748\/wjg.v17.i6.766.","journal-title":"World J Gastroenterol"},{"key":"3064_CR37","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1097\/GIM.0b013e318202e10b","volume":"13","author":"V Alonso-Espinaco","year":"2011","unstructured":"Alonso-Espinaco V, Gir\u00e1ldez MD, Trujillo C, van der Klift H, Mu\u00f1oz J, Balaguer F, Oca\u00f1a T, Madrigal I, Jones AM, Echeverry MM, Velez A, Tomlinson I, Mil\u00e0 M, Wijnen J, Carvajal-Carmona L, Castells A, Castellv\u00ed-Bel S: Novel MLH1 duplication identified in Colombian families with Lynch syndrome. Genet Med. 2011, 13: 155-60. 10.1097\/GIM.0b013e318202e10b.","journal-title":"Genet Med"},{"key":"3064_CR38","doi-asserted-by":"publisher","first-page":"450","DOI":"10.1007\/DCR.0b013e3181d0c114","volume":"53","author":"K Alvarez","year":"2010","unstructured":"Alvarez K, Hurtado C, Hevia MA, Wielandt AM, de la Fuente M, Church J, Carvallo P, L\u00f3pez-K\u00f6stner F: Spectrum of MLH1 and MSH2 mutations in Chilean families with suspected Lynch syndrome. Dis Colon Rectum. 2010, 53: 450-9. 10.1007\/DCR.0b013e3181d0c114.","journal-title":"Dis Colon Rectum"},{"key":"3064_CR39","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1007\/s10689-008-9200-1","volume":"8","author":"LC Gomez","year":"2009","unstructured":"Gomez LC, Marzese DM, Adi J, Bertani D, Ibarra J, Mol B, Vos IJ, De Marchi G, Roqu\u00e9 M: MLPA mutation detection in Argentine HNPCC and FAP families. Fam Cancer. 2009, 8: 67-73. 10.1007\/s10689-008-9200-1.","journal-title":"Fam Cancer"},{"key":"3064_CR40","doi-asserted-by":"publisher","first-page":"1604","DOI":"10.1007\/s10350-007-9037-y","volume":"50","author":"CA Vaccaro","year":"2007","unstructured":"Vaccaro CA, Bonadeo F, Roverano AV, Peltomaki P, Bala S, Renkonen E, Redal MA, Mocetti E, Mullen E, Ojea-Quintana G, Benati ML, Rivello HG, Clark MB, Lynch JF, Lynch HT: Hereditary nonpolyposis colorectal cancer (Lynch Syndrome) in Argentina: report from a referral hospital register. Dis Colon Rectum. 2007, 50: 1604-11. 10.1007\/s10350-007-9037-y.","journal-title":"Dis Colon Rectum"},{"key":"3064_CR41","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1007\/s10689-005-4523-7","volume":"4","author":"A Giraldo","year":"2005","unstructured":"Giraldo A, G\u00f3mez A, Salguero G, Garc\u00eda H, Aristiz\u00e1bal F, Guti\u00e9rrez O, Angel LA, Padr\u00f3n J, Mart\u00ednez C, Mart\u00ednez H, Malaver O, Fl\u00f3rez L, Barvo R: MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome)-description of four novel mutations. Fam Cancer. 2005, 4: 285-90. 10.1007\/s10689-005-4523-7.","journal-title":"Fam Cancer"},{"key":"3064_CR42","doi-asserted-by":"crossref","first-page":"327","DOI":"10.3322\/caac.20128","volume":"61","author":"JN Weitzel","year":"2011","unstructured":"Weitzel JN, Blazer KR, Macdonald DJ, Culver JO, Offit K, Genetics, genomics, and cancer risk assessment: State of the Art and Future Directions in the Era of Personalized Medicine. CA Cancer J Clin. 2011, 61: 327-59.","journal-title":"CA Cancer J Clin"},{"key":"3064_CR43","doi-asserted-by":"publisher","first-page":"870","DOI":"10.1590\/S0100-879X2009005000026","volume":"42","author":"SD Pena","year":"2009","unstructured":"Pena SD, Bastos-Rodrigues L, Pimenta JR, Bydlowski SP: DNA tests probe the genomic ancestry of Brazilians. Braz J Med Biol Res. 2009, 42: 870-6. 10.1590\/S0100-879X2009005000026.","journal-title":"Braz J Med Biol Res"},{"key":"3064_CR44","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/ajhb.20976","volume":"22","author":"TC Lins","year":"2010","unstructured":"Lins TC, Vieira RG, Abreu BS, Grattapaglia D, Pereira RW: Genetic composition of Brazilian population samples based on a set of twenty-eight ancestry informative SNPs. Am J Hum Biol. 2010, 22: 187-92.","journal-title":"Am J Hum Biol"}],"container-title":["BMC Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2407-12-64.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2407-12-64\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2407-12-64","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2407-12-64.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,19]],"date-time":"2024-04-19T09:02:00Z","timestamp":1713517320000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmccancer.biomedcentral.com\/articles\/10.1186\/1471-2407-12-64"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,9]]},"references-count":44,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["3064"],"URL":"https:\/\/doi.org\/10.1186\/1471-2407-12-64","relation":{},"ISSN":["1471-2407"],"issn-type":[{"value":"1471-2407","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,9]]},"assertion":[{"value":"30 July 2011","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 February 2012","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 February 2012","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"64"}}