{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T22:36:15Z","timestamp":1778884575521,"version":"3.51.4"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2008,9,16]],"date-time":"2008-09-16T00:00:00Z","timestamp":1221523200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2009,6]]},"DOI":"10.1007\/s10689-008-9215-7","type":"journal-article","created":{"date-parts":[[2008,9,15]],"date-time":"2008-09-15T15:07:39Z","timestamp":1221491259000},"page":"119-126","source":"Crossref","is-referenced-by-count":18,"title":["Identification and characterization of a novel MLH1 genomic rearrangement as the cause of HNPCC in a Tunisian family: evidence for a homologous Alu-mediated recombination"],"prefix":"10.1007","volume":"8","author":[{"given":"Sana","family":"Aissi-Ben Moussa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amel","family":"Moussa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tonio","family":"Lovecchio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Kourda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taoufik","family":"Najjar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarra","family":"Ben Jilani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amel","family":"El Gaaied","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Porchet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"Manai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie-Pierre","family":"Buisine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,9,16]]},"reference":[{"key":"9215_CR1","unstructured":"Ben Abdallah M (1994) Registre des cancers Nord-Tunisie"},{"key":"9215_CR2","doi-asserted-by":"crossref","unstructured":"Lynch HT, Smyrk T (1996) Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer 78:1149\u20131167. doi:10.1002\/(SICI)1097-0142(19960915)78:6<1149::AID-CNCR1>3.0.CO;2-5","DOI":"10.1002\/(SICI)1097-0142(19960915)78:6<1149::AID-CNCR1>3.0.CO;2-5"},{"key":"9215_CR3","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.patbio.2006.02.008","volume":"54","author":"S Olschwang","year":"2006","unstructured":"Olschwang S, Bona\u00efti-Pelli\u00e9 C, Feingold J et al (2006) Identification and management of HNPCC syndrome (hereditary non polyposis colon cancer), hereditary predisposition to colorectal and endometrial adenocarcinomas. Pathol Biol 54:215\u2013229. doi: 10.1016\/j.patbio.2006.02.008","journal-title":"Pathol Biol"},{"key":"9215_CR4","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1053\/j.gastro.2005.10.052","volume":"130","author":"YM Hendriks","year":"2006","unstructured":"Hendriks YM, Jagmohan-Changur S, van der Klift HM et al (2006) Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Gastroenterology 130:312\u2013322. doi: 10.1053\/j.gastro.2005.10.052","journal-title":"Gastroenterology"},{"key":"9215_CR5","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1093\/jnci\/djk051","volume":"99","author":"K Lagerstedt-Robinson","year":"2007","unstructured":"Lagerstedt-Robinson K, Liu T, Vandrovcova J, Halvarsson B et al (2007) Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst 99:291\u2013299. doi: 10.1093\/jnci\/djk051","journal-title":"J Natl Cancer Inst"},{"key":"9215_CR6","doi-asserted-by":"crossref","first-page":"2193","DOI":"10.1200\/JCO.2000.18.11.2193","volume":"18","author":"R Salovaara","year":"2000","unstructured":"Salovaara R, Loukola A, Kristo P et al (2000) Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 18:2193\u20132200","journal-title":"J Clin Oncol"},{"key":"9215_CR7","doi-asserted-by":"crossref","first-page":"2195","DOI":"10.1001\/jama.294.17.2195","volume":"294","author":"JA Douglas","year":"2005","unstructured":"Douglas JA, Gruber SB, Meister KA et al (2005) History and molecular genetics of Lynch syndrome in family G\u2014a century later. JAMA 294:2195\u20132202. doi: 10.1001\/jama.294.17.2195","journal-title":"JAMA"},{"key":"9215_CR8","doi-asserted-by":"crossref","first-page":"1804","DOI":"10.1053\/gast.2002.37070","volume":"123","author":"N Suraweera","year":"2002","unstructured":"Suraweera N, Duval A, Reperant M et al (2002) Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology 123:1804\u20131811. doi: 10.1053\/gast.2002.37070","journal-title":"Gastroenterology"},{"key":"9215_CR9","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1093\/jnci\/djh034","volume":"96","author":"A Umar","year":"2004","unstructured":"Umar A, Boland CR, Terdiman JP et al (2004) Revised bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96:261\u2013268","journal-title":"J Natl Cancer Inst"},{"key":"9215_CR10","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1002\/humu.10291","volume":"22","author":"CF Taylor","year":"2003","unstructured":"Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR (2003) Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. Hum Mutat 22:428\u2013433. doi: 10.1002\/humu.10291","journal-title":"Hum Mutat"},{"key":"9215_CR11","first-page":"3331","volume":"56","author":"F Canzian","year":"1996","unstructured":"Canzian F, Salovaara R, Hemminki A et al (1996) Semiautomated assessment of loss of heterozygosity and replication error in tumors. Cancer Res 56:3331\u20133337","journal-title":"Cancer Res"},{"key":"9215_CR12","doi-asserted-by":"crossref","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 (1999) New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116:1453\u20131456. doi: 10.1016\/S0016-5085(99)70510-X","journal-title":"Gastroenterology"},{"key":"9215_CR13","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.cancergencyto.2004.03.012","volume":"155","author":"JM Rey","year":"2004","unstructured":"Rey JM, Noruzinia M, Brouillet JP, Sarda P, Maudelonde T, Pujol P (2004) Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer. Cancer Genet Cytogenet 155:149\u2013151. doi: 10.1016\/j.cancergencyto.2004.03.012","journal-title":"Cancer Genet Cytogenet"},{"key":"9215_CR14","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1038\/sj.ejhg.5201568","volume":"14","author":"J Plaschke","year":"2006","unstructured":"Plaschke J, Linnebacher M, Kloor M et al (2006) Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. Eur J Hum Genet 14:561\u2013566. doi: 10.1038\/sj.ejhg.5201568","journal-title":"Eur J Hum Genet"},{"key":"9215_CR15","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1093\/nar\/gkj489","volume":"34","author":"EC Chao","year":"2006","unstructured":"Chao EC, Lipkin SM (2006) Molecular models for the tissue specificity of DNA mismatch repair-deficient carcinogenesis. Nucleic Acids Res 34:840\u2013852. doi: 10.1093\/nar\/gkj489","journal-title":"Nucleic Acids Res"},{"key":"9215_CR16","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1002\/humu.20569","volume":"28","author":"J Auclair","year":"2007","unstructured":"Auclair J, Leroux D, Desseigne F et al (2007) Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. Hum Mutat 28:1084\u20131090. doi: 10.1002\/humu.20569","journal-title":"Hum Mutat"},{"key":"9215_CR17","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1002\/humu.10138","volume":"20","author":"A Viel","year":"2002","unstructured":"Viel A, Petronzelli F, Della-Puppa L, Lucci-Cordisco E et al (2002) Different molecular mechanisms underlie genomic deletions in the MLH1 Gene. Hum Mutat 20:368\u2013374. doi: 10.1002\/humu.10138","journal-title":"Hum Mutat"},{"key":"9215_CR18","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1093\/nar\/23.2.256","volume":"23","author":"NS R\u00fcdiger","year":"1995","unstructured":"R\u00fcdiger NS, Gregersen N, Kielland-Brandt MC (1995) One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res 23:256\u2013260. doi: 10.1093\/nar\/23.2.256","journal-title":"Nucleic Acids Res"},{"key":"9215_CR19","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S0027-5107(01)00065-3","volume":"476","author":"EM Brooks","year":"2001","unstructured":"Brooks EM, Branda RF, Nicklas JA, O\u2019Neill JP (2001) Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease. Mutat Res 476:43\u201354. doi: 10.1016\/S0027-5107(01)00065-3","journal-title":"Mutat Res"},{"key":"9215_CR20","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1016\/j.ymgme.2006.06.007","volume":"89","author":"L Kozak","year":"2006","unstructured":"Kozak L, Hrabincova E, Kintr J et al (2006) Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement. Mol Genet Metab 89:300\u2013309. doi: 10.1016\/j.ymgme.2006.06.007","journal-title":"Mol Genet Metab"},{"key":"9215_CR21","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1038\/nm1195-1203","volume":"1","author":"M Nystr\u00f6m-Lahti","year":"1995","unstructured":"Nystr\u00f6m-Lahti M, Kristo P, Nicolaides NC et al (1995) Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med 1:1203\u20131206. doi: 10.1038\/nm1195-1203","journal-title":"Nat Med"},{"key":"9215_CR22","first-page":"5728","volume":"56","author":"JL Mauillon","year":"1996","unstructured":"Mauillon JL, Michel P, Limacher JM et al (1996) Identification of novel germline hMLH1 mutations including a 22\u00a0kb Alu-mediated deletion in patients with familial colorectal cancer. Cancer Res 56:5728\u20135733","journal-title":"Cancer Res"},{"key":"9215_CR23","first-page":"848","volume":"62","author":"F Charbonnier","year":"2002","unstructured":"Charbonnier F, Olschwang S, Wang Q et al (2002) MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res 62:848\u2013853","journal-title":"Cancer Res"},{"key":"9215_CR24","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/humu.20216","volume":"26","author":"F Charbonnier","year":"2005","unstructured":"Charbonnier F, Baert-Desurmont S, Liang P et al (2005) The 5\u2032 region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences. Hum Mutat 26:255\u2013261. doi: 10.1002\/humu.20216","journal-title":"Hum Mutat"},{"key":"9215_CR25","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1002\/humu.9417","volume":"27","author":"L Li","year":"2006","unstructured":"Li L, McVety S, Younan R (2006) Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC). Hum Mutat 27:388. doi: 10.1002\/humu.9417","journal-title":"Hum Mutat"},{"key":"9215_CR26","doi-asserted-by":"crossref","first-page":"8143","DOI":"10.1158\/0008-5472.CAN-04-2467","volume":"64","author":"I Tournier","year":"2004","unstructured":"Tournier I, Paillerets BB, Sobol H et al (2004) Significant contribution of germline BRCA2 rearrangements in male breast cancer families. Cancer Res 64:8143\u20138147. doi: 10.1158\/0008-5472.CAN-04-2467","journal-title":"Cancer Res"},{"key":"9215_CR27","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1136\/jmg.2003.012062","volume":"41","author":"F Di Fiore","year":"2004","unstructured":"Di Fiore F, Charbonnier F, Martin C et al (2004) Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC. J Med Genet 41:18\u201320. doi: 10.1136\/jmg.2003.012062","journal-title":"J Med Genet"},{"key":"9215_CR28","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1158\/0008-5472.CAN-05-4043","volume":"66","author":"J Zhang","year":"2006","unstructured":"Zhang J, Lindroos A, Ollila S et al (2006) Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1\/MSH2 deletion carriers. Cancer Res 66:659\u2013664. doi: 10.1158\/0008-5472.CAN-05-4043","journal-title":"Cancer Res"},{"key":"9215_CR29","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1038\/sj.ejhg.5201421","volume":"13","author":"M Wehner","year":"2005","unstructured":"Wehner M, Mangold E, Sengteller M et al (2005) Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes. Eur J Hum Genet 13:983\u2013986. doi: 10.1038\/sj.ejhg.5201421","journal-title":"Eur J Hum Genet"},{"key":"9215_CR30","first-page":"1437","volume":"45","author":"AG Knudson","year":"1985","unstructured":"Knudson AG (1985) Hereditary cancer, oncogenes, and antioncogenes. Cancer Res 45:1437\u20131443","journal-title":"Cancer Res"},{"key":"9215_CR31","doi-asserted-by":"crossref","first-page":"2065","DOI":"10.1093\/hmg\/4.11.2065","volume":"4","author":"AL B\u00f8rresen","year":"1995","unstructured":"B\u00f8rresen AL, Lothe RA, Meling GI et al (1995) Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal carcinomas. Hum Mol Genet 4:2065\u20132072. doi: 10.1093\/hmg\/4.11.2065","journal-title":"Hum Mol Genet"},{"key":"9215_CR32","doi-asserted-by":"crossref","first-page":"1773","DOI":"10.1016\/S0002-9440(10)65048-1","volume":"156","author":"SA Kuismanen","year":"2000","unstructured":"Kuismanen SA, Holmberg MT, Salovaara R et al (2000) Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol 156:1773\u20131779","journal-title":"Am J Pathol"},{"key":"9215_CR33","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1038\/ng0195-48","volume":"9","author":"B Liu","year":"1995","unstructured":"Liu B, Nicolaides NC, Markowitz S et al (1995) Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet 9:48\u201355. doi: 10.1038\/ng0195-48","journal-title":"Nat Genet"},{"key":"9215_CR34","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1038\/35077232","volume":"411","author":"JH Hoeijmakers","year":"2001","unstructured":"Hoeijmakers JH (2001) Genome maintenance mechanisms for preventing cancer. Nature 411:366\u2013374. doi: 10.1038\/35077232","journal-title":"Nature"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-008-9215-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-008-9215-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-008-9215-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T17:45:58Z","timestamp":1559238358000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-008-9215-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9,16]]},"references-count":34,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2009,6]]}},"alternative-id":["9215"],"URL":"https:\/\/doi.org\/10.1007\/s10689-008-9215-7","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,9,16]]}}}