{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T13:58:46Z","timestamp":1761919126539},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2008,8,23]],"date-time":"2008-08-23T00:00:00Z","timestamp":1219449600000},"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\/s10689-008-9209-5","type":"journal-article","created":{"date-parts":[[2008,8,22]],"date-time":"2008-08-22T13:43:41Z","timestamp":1219412621000},"page":"85-94","source":"Crossref","is-referenced-by-count":13,"title":["Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore"],"prefix":"10.1007","volume":"8","author":[{"given":"Hui-Ling","family":"Yap","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Shieng","family":"Chieng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jasmine Rui-Chen","family":"Lim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert Seng-Cheong","family":"Lim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ross","family":"Soo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiayi","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soo-Chin","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,8,23]]},"reference":[{"key":"9209_CR1","unstructured":"Seow A, Koh WP, Chia KS, Shi LM, Lee HP, Shanmugaratnam K (2004) Trends in cancer incidence in Singapore 1968\u20132002. Singapore cancer registry report no 6"},{"issue":"1","key":"9209_CR2","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/S0165-4608(96)00290-7","volume":"93","author":"HT Lynch","year":"1997","unstructured":"Lynch HT, Smyrk T, Lynch J (1997) An update of HNPCC (Lynch syndrome). Cancer Genet Cytogenet 93(1):84\u201399. doi: 10.1016\/S0165-4608(96)00290-7","journal-title":"Cancer Genet Cytogenet"},{"issue":"6","key":"9209_CR3","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1002\/(SICI)1097-0142(19960915)78:6<1149::AID-CNCR1>3.0.CO;2-5","volume":"78","author":"HT Lynch","year":"1996","unstructured":"Lynch HT, Smyrk T (1996) Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer 78(6):1149\u20131167. doi :10.1002\/(SICI)1097-0142(19960915)78:6<1149::AID-CNCR1>3.0.CO;2-5","journal-title":"Cancer"},{"issue":"5","key":"9209_CR4","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1016\/0016-5085(87)90565-8","volume":"93","author":"JP Mecklin","year":"1987","unstructured":"Mecklin JP (1987) Frequency of hereditary colorectal carcinoma. Gastroenterology 93(5):1021\u20131025","journal-title":"Gastroenterology"},{"issue":"3","key":"9209_CR5","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(3):677\u2013685. doi :10.1002\/1097-0142(19930201)71:3<677::AID-CNCR2820710305>3.0.CO;2-#","journal-title":"Cancer"},{"issue":"5","key":"9209_CR6","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1002\/1097-0142(19910901)68:5<1109::AID-CNCR2820680535>3.0.CO;2-S","volume":"68","author":"JP Mecklin","year":"1991","unstructured":"Mecklin JP, Jarvinen HJ (1991) Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer). Cancer 68(5):1109\u20131112. doi :10.1002\/1097-0142(19910901)68:5<1109::AID-CNCR2820680535>3.0.CO;2-S","journal-title":"Cancer"},{"issue":"5","key":"9209_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 et al (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75(5):1027\u20131038. doi: 10.1016\/0092-8674(93)90546-3","journal-title":"Cell"},{"issue":"6","key":"9209_CR8","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1016\/0092-8674(93)90330-S","volume":"75","author":"FS Leach","year":"1993","unstructured":"Leach FS, Nicolaides NC, Papadopoulos N et al (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75(6):1215\u20131225. doi: 10.1016\/0092-8674(93)90330-S","journal-title":"Cell"},{"issue":"6468","key":"9209_CR9","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 et al (1994) Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368(6468):258\u2013261. doi: 10.1038\/368258a0","journal-title":"Nature"},{"issue":"5153","key":"9209_CR10","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1126\/science.8128251","volume":"263","author":"N Papadopoulos","year":"1994","unstructured":"Papadopoulos N, Nicolaides NC, Wei YF et al (1994) Mutation of a mutL homolog in hereditary colon cancer. Science 263(5153):1625\u20131629. doi: 10.1126\/science.8128251","journal-title":"Science"},{"issue":"5","key":"9209_CR11","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 et al (1991) The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 34(5):424\u2013425. doi: 10.1007\/BF02053699","journal-title":"Dis Colon Rectum"},{"issue":"6","key":"9209_CR12","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1007\/BF02236922","volume":"42","author":"JG Park","year":"1999","unstructured":"Park JG, Vasen HF, Park KJ et al (1999) Suspected hereditary nonpolyposis colorectal cancer: international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC) criteria and results of genetic diagnosis. Dis Colon Rectum 42(6):710\u2013715. doi: 10.1007\/BF02236922 (discussion 5\u20136)","journal-title":"Dis Colon Rectum"},{"issue":"4","key":"9209_CR13","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(4):261\u2013268","journal-title":"J Natl Cancer Inst"},{"issue":"2","key":"9209_CR14","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1111\/j.1399-0004.2005.00469.x","volume":"68","author":"SC Lee","year":"2005","unstructured":"Lee SC, Guo JY, Lim R et al (2005) Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. Clin Genet 68(2):137\u2013145. doi: 10.1111\/j.1399-0004.2005.00469.x","journal-title":"Clin Genet"},{"issue":"25","key":"9209_CR15","doi-asserted-by":"crossref","first-page":"4074","DOI":"10.3748\/wjg.v12.i25.4074","volume":"12","author":"XL Wang","year":"2006","unstructured":"Wang XL, Yuan Y, Zhang SZ et al (2006) Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families. World J Gastroenterol 12(25):4074\u20134077","journal-title":"World J Gastroenterol"},{"issue":"4","key":"9209_CR16","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1002\/(SICI)1097-0215(19990812)82:4<516::AID-IJC8>3.0.CO;2-U","volume":"82","author":"JG Park","year":"1999","unstructured":"Park JG, Park YJ, Wijnen JT et al (1999) Gene\u2013environment interaction in hereditary nonpolyposis colorectal cancer with implications for diagnosis and genetic testing. Int J Cancer 82(4):516\u2013519. doi :10.1002\/(SICI)1097-0215(19990812)82:4<516::AID-IJC8>3.0.CO;2-U","journal-title":"Int J Cancer"},{"issue":"6","key":"9209_CR17","first-page":"1243","volume":"59","author":"AL Moisio","year":"1996","unstructured":"Moisio AL, Sistonen P, Weissenbach J et al (1996) Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet 59(6):1243\u20131251","journal-title":"Am J Hum Genet"},{"issue":"7\u20138","key":"9209_CR18","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1038\/sj.bjc.6690162","volume":"79","author":"N Benachenhou","year":"1999","unstructured":"Benachenhou N, Guiral S, Gorska-Flipot I et al (1999) Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and hMSH3 in sporadic breast cancer. Br J Cancer 79(7\u20138):1012\u20131017. doi: 10.1038\/sj.bjc.6690162","journal-title":"Br J Cancer"},{"issue":"22","key":"9209_CR19","first-page":"5248","volume":"58","author":"CR Boland","year":"1998","unstructured":"Boland CR, Thibodeau SN, Hamilton SR et al (1998) A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 58(22):5248\u20135257","journal-title":"Cancer Res"},{"issue":"1","key":"9209_CR20","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/S1525-1578(10)60611-3","volume":"2","author":"KD Berg","year":"2000","unstructured":"Berg KD, Glaser CL, Thompson RE et al (2000) Detection of microsatellite instability by fluorescence multiplex polymerase chain reaction. J Mol Diagn 2(1):20\u201328","journal-title":"J Mol Diagn"},{"issue":"10","key":"9209_CR21","doi-asserted-by":"crossref","first-page":"e117","DOI":"10.1136\/jmg.40.10.e117","volume":"40","author":"JH Sng","year":"2003","unstructured":"Sng JH, Ali AB, Lee SC et al (2003) BRCA1 c.2845insA is a recurring mutation with a founder effect in Singapore Malay women with early onset breast\/ovarian cancer. J Med Genet 40(10):e117. doi: 10.1136\/jmg.40.10.e117","journal-title":"J Med Genet"},{"issue":"6","key":"9209_CR22","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1097\/00005537-200306000-00026","volume":"113","author":"SC Lee","year":"2003","unstructured":"Lee SC, Chionh SB, Chong SM et al (2003) Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect? Laryngoscope 113(6):1055\u20131058. doi: 10.1097\/00005537-200306000-00026","journal-title":"Laryngoscope"},{"issue":"4","key":"9209_CR23","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/humu.9277","volume":"24","author":"YK Shin","year":"2004","unstructured":"Shin YK, Heo SC, Shin JH et al (2004) Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. Hum Mutat 24(4):351. doi: 10.1002\/humu.9277","journal-title":"Hum Mutat"},{"issue":"5","key":"9209_CR24","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1086\/383591","volume":"74","author":"TL Chan","year":"2004","unstructured":"Chan TL, Chan YW, Ho JW et al (2004) MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population. Am J Hum Genet 74(5):1035\u20131042. doi: 10.1086\/383591","journal-title":"Am J Hum Genet"},{"issue":"2","key":"9209_CR25","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.cancergencyto.2006.05.010","volume":"170","author":"Y Fan","year":"2006","unstructured":"Fan Y, Liu X, Zhang H et al (2006) Variations in exon 7 of the MSH2 gene and susceptibility to gastrointestinal cancer in a Chinese population. Cancer Genet Cytogenet 170(2):121\u2013128. doi: 10.1016\/j.cancergencyto.2006.05.010","journal-title":"Cancer Genet Cytogenet"},{"issue":"1\u20132","key":"9209_CR26","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/s00439-005-0107-8","volume":"119","author":"C Pagenstecher","year":"2006","unstructured":"Pagenstecher C, Wehner M, Friedl W et al (2006) Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. Hum Genet 119(1\u20132):9\u201322. doi: 10.1007\/s00439-005-0107-8","journal-title":"Hum Genet"},{"issue":"24","key":"9209_CR27","doi-asserted-by":"crossref","first-page":"7515","DOI":"10.1158\/1078-0432.CCR-07-1028","volume":"13","author":"Y Fan","year":"2007","unstructured":"Fan Y, Wang W, Zhu M et al (2007) Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res 13(24):7515\u20137521. doi: 10.1158\/1078-0432.CCR-07-1028","journal-title":"Clin Cancer Res"},{"issue":"18","key":"9209_CR28","doi-asserted-by":"crossref","first-page":"2647","DOI":"10.3748\/wjg.v10.i18.2647","volume":"10","author":"SR Liu","year":"2004","unstructured":"Liu SR, Zhao B, Wang ZJ et al (2004) Clinical features and mismatch repair gene mutation screening in Chinese patients with hereditary nonpolyposis colorectal carcinoma. World J Gastroenterol 10(18):2647\u20132651","journal-title":"World J Gastroenterol"},{"issue":"4","key":"9209_CR29","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/(SICI)1097-0215(19990812)82:4<512::AID-IJC7>3.0.CO;2-8","volume":"82","author":"YQ Bai","year":"1999","unstructured":"Bai YQ, Akiyama Y, Nagasaki H et al (1999) Predominant germ-line mutation of the hMSH2 gene in Japanese hereditary non-polyposis colorectal cancer kindreds. Int J Cancer 82(4):512\u2013515. doi :10.1002\/(SICI)1097-0215(19990812)82:4<512::AID-IJC7>3.0.CO;2-8","journal-title":"Int J Cancer"},{"issue":"14","key":"9209_CR30","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1093\/jnci\/91.14.1221","volume":"91","author":"TL Chan","year":"1999","unstructured":"Chan TL, Yuen ST, Chung LP et al (1999) Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer. J Natl Cancer Inst 91(14):1221\u20131226. doi: 10.1093\/jnci\/91.14.1221","journal-title":"J Natl Cancer Inst"},{"issue":"8","key":"9209_CR31","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1056\/NEJM199808203390804","volume":"339","author":"JT Wijnen","year":"1998","unstructured":"Wijnen JT, Vasen HF, Khan PM et al (1998) Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med 339(8):511\u2013518. doi: 10.1056\/NEJM199808203390804","journal-title":"N Engl J Med"},{"issue":"2","key":"9209_CR32","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1086\/514847","volume":"61","author":"J Wijnen","year":"1997","unstructured":"Wijnen J, Khan PM, Vasen H et al (1997) Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations. Am J Hum Genet 61(2):329\u2013335. doi: 10.1086\/514847","journal-title":"Am J Hum Genet"},{"issue":"4","key":"9209_CR33","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1038\/ng932","volume":"31","author":"BJ Feng","year":"2002","unstructured":"Feng BJ, Huang W, Shugart YY et al (2002) Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4. Nat Genet 31(4):395\u2013399","journal-title":"Nat Genet"},{"issue":"3","key":"9209_CR34","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1007\/s10689-004-1447-6","volume":"4","author":"LM Baudhuin","year":"2005","unstructured":"Baudhuin LM, Burgart LJ, Leontovich O et al (2005) Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome. Fam Cancer 4(3):255\u2013265. doi: 10.1007\/s10689-004-1447-6","journal-title":"Fam Cancer"},{"issue":"22","key":"9209_CR35","doi-asserted-by":"crossref","first-page":"4449","DOI":"10.1200\/JCO.2004.06.940","volume":"22","author":"K Offit","year":"2004","unstructured":"Offit K (2004) MSH6 mutations in hereditary nonpolyposis colon cancer: another slice of the pie. J Clin Oncol 22(22):4449\u20134451. doi: 10.1200\/JCO.2004.06.940","journal-title":"J Clin Oncol"},{"issue":"22","key":"9209_CR36","doi-asserted-by":"crossref","first-page":"4486","DOI":"10.1200\/JCO.2004.02.033","volume":"22","author":"J Plaschke","year":"2004","unstructured":"Plaschke J, Engel C, Kruger S et al (2004) Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German hereditary nonpolyposis colorectal cancer consortium. J Clin Oncol 22(22):4486\u20134494. doi: 10.1200\/JCO.2004.02.033","journal-title":"J Clin Oncol"},{"issue":"3","key":"9209_CR37","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1111\/j.1399-0004.2004.00214.x","volume":"65","author":"E Thompson","year":"2004","unstructured":"Thompson E, Meldrum CJ, Crooks R et al (2004) Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. Clin Genet 65(3):215\u2013225. doi: 10.1111\/j.1399-0004.2004.00214.x","journal-title":"Clin Genet"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-008-9209-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-008-9209-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-008-9209-5","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\/s10689-008-9209-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,8,23]]},"references-count":37,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2009,6]]}},"alternative-id":["9209"],"URL":"https:\/\/doi.org\/10.1007\/s10689-008-9209-5","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,8,23]]}}}