{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T22:15:22Z","timestamp":1789942522196,"version":"4.0.1"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2009,8,8]],"date-time":"2009-08-08T00:00:00Z","timestamp":1249689600000},"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":[[2009,12]]},"DOI":"10.1007\/s10689-009-9275-3","type":"journal-article","created":{"date-parts":[[2009,8,7]],"date-time":"2009-08-07T12:41:10Z","timestamp":1249648870000},"page":"289-298","source":"Crossref","is-referenced-by-count":8,"title":["Impact of 226C&gt;T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testing"],"prefix":"10.1007","volume":"8","author":[{"given":"Makia J.","family":"Marafie","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sadiqa","family":"Al-Awadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatemah","family":"Al-Mosawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alaa","family":"Elshafey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Waleed","family":"Al-Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fahd","family":"Al-Mulla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,8,8]]},"reference":[{"key":"9275_CR1","unstructured":"Lynch HT, de la Chapelle A (1999). Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 36: 801\u2013818. Review"},{"key":"9275_CR2","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1056\/NEJMra012242","volume":"348","author":"HT Lynch","year":"2003","unstructured":"Lynch HT, de la Chapelle A (2003) Hereditary colorectal cancer. N Engl J Med 348:919\u2013932","journal-title":"N Engl J Med"},{"key":"9275_CR3","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1002\/1097-0142(19930201)71:3<677::AID-CNCR2820710305>3.0.CO;2-#","volume":"71","author":"P Watson","year":"1993","unstructured":"Watson P, Lynch HT (1993) Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71:677\u2013685","journal-title":"Cancer"},{"key":"9275_CR4","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1007\/BF02053699","volume":"34","author":"HF Vasen","year":"1991","unstructured":"Vasen HF, Mecklin JP, Khan PM, Lynch HT (1991) The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 34:424\u2013425","journal-title":"Dis Colon Rectum"},{"key":"9275_CR5","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1016\/S0016-5085(99)70510-X","volume":"116","author":"HFA Vasen","year":"1999","unstructured":"Vasen HFA, 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","journal-title":"Gastroenterology"},{"key":"9275_CR6","doi-asserted-by":"crossref","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, Henson DE, Jass JR, Khan PM, Lynch H, Perucho M, Smyrk T, Sobin L, Srivastava S (1997) A national cancer institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89:1758\u20131762","journal-title":"J Natl Cancer Inst"},{"key":"9275_CR7","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1016\/0092-8674(93)90546-3","volume":"75","author":"R Fishel","year":"1993","unstructured":"Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75:1027\u20131038","journal-title":"Cell"},{"key":"9275_CR8","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1038\/368258a0","volume":"368","author":"CE Bronner","year":"1994","unstructured":"Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, Earabino C, Lipford J, Lindblom A, Tannergard P, Bollag R, Godwin A, Ward DC, Nordenskjold M, Fishel R, Kolodner R, Liskay M (1994) Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368:258\u2013261","journal-title":"Nature"},{"key":"9275_CR9","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/371075a0","volume":"371","author":"NC Nicolaides","year":"1994","unstructured":"Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM et al (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371:75\u201380","journal-title":"Nature"},{"key":"9275_CR10","first-page":"3920","volume":"57","author":"Y Akiyama","year":"1997","unstructured":"Akiyama Y, Sato H, Yamada T, Nagasaki H, Tsuchiya A, Abe R, Yuasa Y (1997) Germ-line mutation of the hMSH6\/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 57:3920\u20133923","journal-title":"Cancer Res"},{"key":"9275_CR11","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/ng1197-271","volume":"17","author":"M Miyaki","year":"1997","unstructured":"Miyaki M, Konishi M, Tanaka K et al (1997) Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 17:271\u2013272","journal-title":"Nat Genet"},{"key":"9275_CR12","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1002\/(SICI)1098-1004(1997)10:2<89::AID-HUMU1>3.0.CO;2-H","volume":"10","author":"N Papadopoulos","year":"1997","unstructured":"Papadopoulos N, Lindblom A (1997) Molecular basis of HNPCC: mutations of MMR genes. Hum Mutat 10:89\u201399","journal-title":"Hum Mutat"},{"key":"9275_CR13","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1093\/hmg\/6.1.105","volume":"6","author":"MG Dunlop","year":"1997","unstructured":"Dunlop MG, Farrington SM, Carothers AD, Wyllie AH, Sharp L, Burn J, Liu B, Kinzler KW, Vogelstein B (1997) Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 6:105\u2013110","journal-title":"Hum Mol Genet"},{"key":"9275_CR14","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1002\/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L","volume":"81","author":"M Aarnio","year":"1999","unstructured":"Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A, Peltom\u00e4ki P, Mecklin JP, J\u00e4rvinen HJ (1999) Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81:214\u2013218","journal-title":"Int J Cancer"},{"key":"9275_CR15","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/j.1399-0004.2008.01035.x","volume":"74","author":"E Barrow","year":"2008","unstructured":"Barrow E, Alduaij W, Robinson L, Shenton A, Clancy T, Lalloo F, Hill J, Evans DG (2008) Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations. Clin Genet 74:233\u2013242","journal-title":"Clin Genet"},{"key":"9275_CR16","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/s10689-007-9159-3","volume":"7","author":"PM Lynch","year":"2008","unstructured":"Lynch PM (2008) Standards of care in diagnosis and testing for hereditary colon cancer. Familial Cancer 7:65\u201372","journal-title":"Familial Cancer"},{"key":"9275_CR17","first-page":"105","volume":"14","author":"MJ Marafie","year":"2005","unstructured":"Marafie MJ, Motawy M, Macdonald F, Bell J, Al-Awadi SA (2005) Hereditary non-polyposis colorectal cancer: identification of a novel hMSH2 gene mutation in an Arab family. Med Princ Pract 14:105\u2013106","journal-title":"Med Princ Pract"},{"key":"9275_CR18","doi-asserted-by":"crossref","first-page":"e83","DOI":"10.1136\/jmg.2007.048942","volume":"44","author":"RH Scott","year":"2007","unstructured":"Scott RH, Homfray T, Huxter NL, Mitton SG, Nash R, Potter MN, Lancaster D, Rahman N (2007) Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations. J Med Genet 44:e83","journal-title":"J Med Genet"},{"key":"9275_CR19","doi-asserted-by":"crossref","first-page":"2044","DOI":"10.1158\/1055-9965.EPI-08-0301","volume":"17","author":"F Kastrinos","year":"2008","unstructured":"Kastrinos F, Stoffel EM, Balmana J, Steyerberg EW, Mercado R, Syngal S (2008) Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1, 914 individuals undergoing clinical genetic testing in the United States. Cancer Epidemiol Biomarkers Prev 17:2044\u20132051","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"9275_CR20","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1136\/jmg.2004.022673","volume":"42","author":"S Reid","year":"2005","unstructured":"Reid S, Renwick A, Seal S, Baskcomb L, Barfoot R, Jayatilake H, Pritchard-Jones K, Stratton MR, Ridolfi-L\u00fcthy A, Rahman N, Breast Cancer Susceptibility Collaboration (UK), Familial Wilms Tumour Collaboration (2005) Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. J Med Genet 42:147\u2013151","journal-title":"J Med Genet"},{"key":"9275_CR21","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/ajmg.a.31070","volume":"140","author":"A M\u00fcller","year":"2006","unstructured":"M\u00fcller A, Schackert HK, Lange B, R\u00fcschoff J, F\u00fczesi L, Willert J, Burfeind P, Shah P, Becker H, Epplen JT, Stemmler S (2006) A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12\u00a0years. Am J Med Genet A 140:195\u2013199","journal-title":"Am J Med Genet A"},{"key":"9275_CR22","doi-asserted-by":"crossref","first-page":"2349","DOI":"10.1002\/cncr.22697","volume":"109","author":"JW Poley","year":"2007","unstructured":"Poley JW, Wagner A, Hoogmans MM, Menko FH, Tops C, Kros JM, Reddingius RE, Meijers-Heijboer H, Kuipers EJ, Dinjens WN (2007) Rotterdam initiative on gastrointestinal hereditary tumors. Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. Cancer 109:2349\u20132356","journal-title":"Cancer"},{"key":"9275_CR23","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1097\/MPH.0b013e318161aa20","volume":"30","author":"TY Tan","year":"2008","unstructured":"Tan TY, Orme LM, Lynch E, Croxford MA, Dow C, Dewan PA, Lipton L (2008) Biallelic PMS2 mutations and a distinctive childhood cancer syndrome. J Pediatr Hematol Oncol 30:254\u2013257","journal-title":"J Pediatr Hematol Oncol"},{"key":"9275_CR24","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1038\/sj.ejhg.5201923","volume":"16","author":"S Kr\u00fcger","year":"2008","unstructured":"Kr\u00fcger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, von Stackelberg A, Henn W, G\u00f6rgens H, Boue S, K\u00f6lble K, B\u00fcttner R, Schackert HK (2008) Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type. Eur J Hum Genet 16:62\u201372","journal-title":"Eur J Hum Genet"},{"key":"9275_CR25","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, Gebert J, Cremer FW, Tinschert S, Aust DE, von Knebel Doeberitz M, Schackert HK (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","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"9275_CR26","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1200\/JCO.2008.16.1281","volume":"27","author":"M Nilbert","year":"2009","unstructured":"Nilbert M, Timshel S, Bernstein I, Larsen K (2009) Role for genetic anticipation in lynch syndrome. J Clin Oncol 27(3):360\u2013364","journal-title":"J Clin Oncol"},{"issue":"3","key":"9275_CR27","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1200\/JCO.2008.19.1445","volume":"27","author":"SB Gruber","year":"2009","unstructured":"Gruber SB, Mukherjee B (2009) Anticipation in lynch syndrome: still waiting for the answer. J Clin Oncol 27(3):326\u2013327","journal-title":"J Clin Oncol"},{"key":"9275_CR28","doi-asserted-by":"crossref","unstructured":"Koornstra JJ, Mourits MJ, Sijmons RH, Leliveld AM, Hollema H, Kleibeuker JH (2009) Management of extracolonic tumours in patients with lynch syndrome. Lancet Oncol 10(4):400\u2013408. Review","DOI":"10.1016\/S1470-2045(09)70041-5"},{"key":"9275_CR29","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1111\/j.1399-0004.1985.tb00236.x","volume":"27","author":"SA Al-Awadi","year":"1985","unstructured":"Al-Awadi SA, Moussa MA, Naguib KK, Farag TI, Teebi AS, El-Khalifa M, El-Dossary L (1985) Consanguinity among the Kuwaiti population. Clin Genet 27:483\u2013486","journal-title":"Clin Genet"},{"key":"9275_CR30","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1136\/jmg.31.3.224","volume":"31","author":"AS Teebi","year":"1994","unstructured":"Teebi AS (1994) Autosomal recessive disorders among Arabs: an overview from Kuwait. J Med Genet 31:224\u2013233","journal-title":"J Med Genet"},{"key":"9275_CR31","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1159\/000102147","volume":"16","author":"A Bener","year":"2007","unstructured":"Bener A, Hussain R, Teebi AS (2007) Consanguineous marriages and their effect on common adult diseases: studies from an endogamous population. Med Princ Pract 16:262\u2013267","journal-title":"Med Princ Pract"},{"key":"9275_CR32","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1159\/000153428","volume":"12","author":"H Hamamy","year":"2009","unstructured":"Hamamy H, Bittles AH (2009) Genetic clinics in Arab communities: meeting individual, family and community needs. Public Health Genomics 12:30\u201340","journal-title":"Public Health Genomics"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-009-9275-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-009-9275-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-009-9275-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T21:46:00Z","timestamp":1559252760000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-009-9275-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,8,8]]},"references-count":32,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["9275"],"URL":"https:\/\/doi.org\/10.1007\/s10689-009-9275-3","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,8,8]]}}}