TY - JOUR AU - Chen, S. AU - Wang, W. AU - Lee, S. AU - Nafa, K. AU - Lee, J. AU - Romans, K. AU - Watson, P. AU - Gruber, S. AU - Euhus, D. AU - Kinzler, K. AU - Jass, J. AU - Gallinger, S. AU - Lindor, N. AU - Casey, G. AU - Ellis, N. AU - Giardiello, F. AU - Offit, K. AU - Parmigiani, G. PY - 2006 DA - 2006// TI - Prediction of germline mutations and cancer risk in the Lynch Syndrome JO - JAMA VL - 296 UR - https://doi.org/10.1001/jama.296.12.1479 DO - 10.1001/jama.296.12.1479 ID - Chen2006 ER - TY - JOUR AU - Terespolsky, D. PY - 2007 DA - 2007// TI - Commentary: The MMRpro model accurately predicted the probability of carrying a cancer-susceptibility gene mutation for the Lynch syndrome JO - ACP J Club VL - 146 ID - Terespolsky2007 ER - TY - JOUR AU - Green, R. C. AU - Parfrey, P. S. AU - Woods, M. O. AU - Younghusband, H. B. PY - 2009 DA - 2009// TI - Prediction of Lynch syndrome in consecutive patients with colorectal cancer JO - J Natl Cancer Inst VL - 101 UR - https://doi.org/10.1093/jnci/djn499 DO - 10.1093/jnci/djn499 ID - Green2009 ER - TY - JOUR AU - Lynch, H. AU - Lynch, J. AU - Lynch, P. AU - Attard, T. PY - 2008 DA - 2008// TI - Hereditary colorectal cancer syndromes: molecular genetics, genetic counselling, diagnosis and management JO - Fam Cancer VL - 7 UR - https://doi.org/10.1007/s10689-007-9165-5 DO - 10.1007/s10689-007-9165-5 ID - Lynch2008 ER - TY - JOUR AU - Järvinen, H. AU - Mecklin, J. AU - Sistonen, P. PY - 1995 DA - 1995// TI - Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer JO - Gastroenterology VL - 108 UR - https://doi.org/10.1016/0016-5085(95)90688-6 DO - 10.1016/0016-5085(95)90688-6 ID - Järvinen1995 ER - TY - JOUR AU - Vasen, H. PY - 2007 DA - 2007// TI - Review article: the Lynch syndrome (hereditary nonpolyposis colorectal cancer) JO - Aliment Pharmacol Ther VL - 26 Suppl 2 UR - https://doi.org/10.1111/j.1365-2036.2007.03479.x DO - 10.1111/j.1365-2036.2007.03479.x ID - Vasen2007 ER - TY - JOUR AU - Green, J. AU - O'Driscoll, M. AU - Barnes, A. AU - Maher, E. R. AU - Bridge, P. AU - Shields, K. AU - Parfrey, P. S. PY - 2002 DA - 2002// TI - Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation JO - Dis Colon Rectum VL - 45 UR - https://doi.org/10.1007/s10350-004-6397-4 DO - 10.1007/s10350-004-6397-4 ID - Green2002 ER - TY - CHAP AU - Reference, G. H. PY - 2008 DA - 2008// TI - Lynch Syndrome BT - Internet ID - Reference2008 ER - TY - JOUR AU - Choi, Y. AU - Kopciuk, K. AU - Briollais, L. PY - 2008 DA - 2008// TI - Estimating disease risk associated with mutated genes in family-based designs JO - Hum Hered VL - 66 UR - https://doi.org/10.1159/000143406 DO - 10.1159/000143406 ID - Choi2008 ER - TY - JOUR AU - Kraft, P. AU - Thomas, D. C. PY - 2000 DA - 2000// TI - Bias and efficiency in family-based gene-characterization studies: conditional, prospective, retrospective, and joint likelihoods JO - Am J Hum Genet VL - 66 UR - https://doi.org/10.1086/302808 DO - 10.1086/302808 ID - Kraft2000 ER - TY - JOUR AU - Parfrey, P. AU - Davidson, W. AU - Green, J. PY - 2002 DA - 2002// TI - Clinical and genetic epidemiology of inherited renal disease in Newfoundland JO - Kidney Int VL - 61 UR - https://doi.org/10.1046/j.1523-1755.2002.00305.x DO - 10.1046/j.1523-1755.2002.00305.x ID - Parfrey2002 ER - TY - JOUR AU - Merner, N. AU - Hodgkinson, K. AU - Haywood, A. AU - Connors, S. AU - French, V. AU - Drenckhahn, J. AU - Kupprion, C. AU - Ramadanova, K. AU - Thierfelder, L. AU - McKenna, W. AU - Gallagher, B. AU - Morris-Larkin, L. AU - Bassett, A. AU - Parfrey, P. AU - Young, T. PY - 2008 DA - 2008// TI - Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene JO - Am J Hum Genet VL - 82 UR - https://doi.org/10.1016/j.ajhg.2008.01.010 DO - 10.1016/j.ajhg.2008.01.010 ID - Merner2008 ER - TY - JOUR AU - Parfrey, P. AU - Bear, J. AU - Morgan, J. AU - Cramer, B. AU - McManamon, P. AU - Gault, M. AU - Churchill, D. AU - Singh, M. AU - Hewitt, R. AU - Somlo, S. PY - 1990 DA - 1990// TI - The diagnosis and prognosis of autosomal dominant polycystic kidney disease JO - N Engl J Med VL - 323 UR - https://doi.org/10.1056/NEJM199010183231601 DO - 10.1056/NEJM199010183231601 ID - Parfrey1990 ER - TY - JOUR AU - Stuckless, S. AU - Parfrey, P. AU - Woods, M. AU - Cox, J. AU - Fitzgerald, G. AU - Green, J. AU - Green, R. PY - 2007 DA - 2007// TI - The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome JO - Fam Cancer VL - 6 UR - https://doi.org/10.1007/s10689-006-0014-8 DO - 10.1007/s10689-006-0014-8 ID - Stuckless2007 ER - TY - JOUR AU - Aarnio, M. AU - Sankila, R. AU - Pukkala, E. AU - Salovaara, R. AU - Aaltonen, L. AU - de la Chapelle, A. AU - Peltomäki, P. AU - Mecklin, J. AU - Järvinen, H. PY - 1999 DA - 1999// TI - Cancer risk in mutation carriers of DNA-mismatch-repair genes JO - Int J Cancer VL - 81 UR - https://doi.org/3.0.CO;2-L DO - 3.0.CO;2-L ID - Aarnio1999 ER - TY - JOUR AU - Lin, K. AU - Shashidharan, M. AU - Thorson, A. AU - Ternent, C. AU - Blatchford, G. AU - Christensen, M. AU - Watson, P. AU - Lemon, S. AU - Franklin, B. AU - Karr, B. AU - Lynch, J. AU - Lynch, H. PY - 1998 DA - 1998// TI - Cumulative incidence of colorectal and extracolonic cancers in MLH1 and MSH2 mutation carriers of hereditary nonpolyposis colorectal cancer JO - J Gastrointest Surg VL - 2 UR - https://doi.org/10.1016/S1091-255X(98)80105-4 DO - 10.1016/S1091-255X(98)80105-4 ID - Lin1998 ER - TY - JOUR AU - Vasen, H. AU - Wijnen, J. AU - Menko, F. AU - Kleibeuker, J. AU - Taal, C. AU - Griffioen, G. AU - Nagengast, F. AU - Meijers-Heijboer, E. AU - Bertario, L. AU - Varesco, L. AU - Bisgaard, M. AU - Mohr, J. AU - Fodde, R. AU - Khan, P. PY - 1996 DA - 1996// TI - Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis JO - Gastroenterology VL - 110 UR - https://doi.org/10.1053/gast.1996.v110.pm8612988 DO - 10.1053/gast.1996.v110.pm8612988 ID - Vasen1996 ER - TY - JOUR AU - Dunlop, M. AU - Farrington, S. AU - Carothers, A. AU - Wyllie, A. AU - Sharp, L. AU - Burn, J. AU - Liu, B. AU - Kinzler, K. AU - Vogelstein, B. PY - 1997 DA - 1997// TI - Cancer risk associated with germline DNA mismatch repair mutations JO - Hum Mol Genet VL - 6 UR - https://doi.org/10.1093/hmg/6.1.105 DO - 10.1093/hmg/6.1.105 ID - Dunlop1997 ER - TY - JOUR AU - Chen, S. AU - Wang, W. AU - Browman, K. AU - Katk, H. AU - Parmigiani, G. PY - 2004 DA - 2004// TI - BayesMendel: an R enviroment for Mendelian risk prediction JO - Stat Appl Genet Mol Biol VL - 3 ID - Chen2004 ER - TY - JOUR AU - Kaplan, E. AU - Meier, P. PY - 1958 DA - 1958// TI - Nonparametric estimation from incomplete observations JO - J Amer Statist Assoc VL - 53 UR - https://doi.org/10.1080/01621459.1958.10501452 DO - 10.1080/01621459.1958.10501452 ID - Kaplan1958 ER - TY - BOOK AU - Thomas, D. C. PY - 2004 DA - 2004// TI - Statistical Methods in Genetic Epidemiology PB - New York CY - Oxford University Press ID - Thomas2004 ER - TY - BOOK AU - Lawless, J. F. PY - 2003 DA - 2003// TI - Statistical Models and Methods for Lifetime Data PB - Hoboken CY - John Wiley and Sons Inc ID - Lawless2003 ER - TY - JOUR AU - Jenkins, M. A. AU - Baglietto, L. AU - Dowty, J. G. AU - Van Vliet, C. M. AU - Smith, L. AU - Mead, L. J. AU - Macrae, F. A. AU - St John, D. J. AU - Jass, J. R. AU - Giles, G. G. AU - Hopper, J. L. AU - Southey, M. C. PY - 2006 DA - 2006// TI - Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study JO - Clin Gastroenterol Hepatol VL - 4 UR - https://doi.org/10.1016/j.cgh.2006.01.002 DO - 10.1016/j.cgh.2006.01.002 ID - Jenkins2006 ER - TY - BOOK AU - Cox, D. R. AU - Hinkley, D. V. PY - 1974 DA - 1974// TI - Theoretical Statistics PB - New York CY - Chapman and Hall UR - https://doi.org/10.1007/978-1-4899-2887-0 DO - 10.1007/978-1-4899-2887-0 ID - Cox1974 ER - TY - JOUR AU - Carayol, J. AU - Bonaïti-Pellié, C. PY - 2004 DA - 2004// TI - Estimating penetrance from family data using a retrospective likelihood when ascertainment depends on genotype and age of onset JO - Genet Epidemiol VL - 27 UR - https://doi.org/10.1002/gepi.20007 DO - 10.1002/gepi.20007 ID - Carayol2004 ER - TY - JOUR AU - Ewens, W. AU - Shute, N. PY - 1986 DA - 1986// TI - A resolution of the ascertainment sampling problem. I. Theory JO - Theor Popul Biol VL - 30 UR - https://doi.org/10.1016/0040-5809(86)90042-0 DO - 10.1016/0040-5809(86)90042-0 ID - Ewens1986 ER - TY - JOUR AU - Hodge, S. PY - 1988 DA - 1988// TI - Conditioning on subsets of the data: Application to ascertainment and other genetic problems JO - Am J Hum Genet VL - 43 ID - Hodge1988 ER - TY - JOUR AU - Lange, K. AU - Sinsheimer, J. AU - Sobel, E. PY - 2005 DA - 2005// TI - Association testing with Mendel JO - Genet Epidemiol VL - 29 UR - https://doi.org/10.1002/gepi.20073 DO - 10.1002/gepi.20073 ID - Lange2005 ER - TY - JOUR AU - Aarnio, M. AU - Mecklin, J. AU - Aaltonen, L. AU - Nystrom-Lahti, M. AU - Jarvinen, H. PY - 1995 DA - 1995// TI - Life-time risk of different cancers in HNPCC syndrome JO - Int J Cancer VL - 64 UR - https://doi.org/10.1002/ijc.2910640613 DO - 10.1002/ijc.2910640613 ID - Aarnio1995 ER - TY - JOUR AU - Froggart, N. AU - Green, J. AU - Brassett, C. AU - Evans, D. AU - Bishop, D. AU - Kolodner, R. AU - Maher, E. PY - 1999 DA - 1999// TI - A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer risk JO - J Med Genet VL - 36 ID - Froggart1999 ER - TY - JOUR AU - Vasen, H. AU - Stormorken, A. AU - Menko, F. AU - Nagengast, F. AU - Kleibeuker, J. AU - Griffioen, G. PY - 2001 DA - 2001// TI - MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families JO - J Clin Oncol VL - 19 ID - Vasen2001 ER - TY - JOUR AU - Parc, Y. AU - Boisson, C. AU - Thomas, G. AU - Olschwang, S. PY - 2003 DA - 2003// TI - Cancer risk in 348 French MSH2 or MLH1 gene carriers JO - J Med Genet VL - 40 UR - https://doi.org/10.1136/jmg.40.3.208 DO - 10.1136/jmg.40.3.208 ID - Parc2003 ER - TY - JOUR AU - Quehenberger, F. AU - Vasen, H. AU - van Houwelingen, H. PY - 2005 DA - 2005// TI - Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment JO - J Med Genet VL - 42 UR - https://doi.org/10.1136/jmg.2004.024299 DO - 10.1136/jmg.2004.024299 ID - Quehenberger2005 ER - TY - JOUR AU - Hampel, H. AU - Stephens, J. AU - Pukkala, E. AU - Sankila, R. AU - Aaltonen, L. AU - Mecklin, J. AU - de la Chapelle, A. PY - 2005 DA - 2005// TI - Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset JO - Gastroenterology VL - 129 UR - https://doi.org/10.1016/j.gastro.2005.05.011 DO - 10.1016/j.gastro.2005.05.011 ID - Hampel2005 ER - TY - JOUR AU - Barrow, S. AU - Alduaij, W. AU - Robinson, L. AU - Shenton, A. AU - Clancy, T. AU - Lalloo, F. AU - Hill, J. AU - DG, E. PY - 2008 DA - 2008// TI - Colorectal cancer in HNPCC: cumulative lifetime incidence, survival, tumor distribution. A report on 121 families with proven mutations JO - Clin Genet VL - 74 UR - https://doi.org/10.1111/j.1399-0004.2008.01035.x DO - 10.1111/j.1399-0004.2008.01035.x ID - Barrow2008 ER - TY - JOUR AU - Alarcon, F. AU - Lasset, C. AU - Carayol, J. AU - Bonadona, V. AU - Perdry, H. AU - Desseigne, F. AU - Wang, Q. AU - Bonaïti-Pellié, C. PY - 2007 DA - 2007// TI - Estimating cancer risk in HNPCC by the GRL method JO - Eur J Hum Genet VL - 15 UR - https://doi.org/10.1038/sj.ejhg.5201843 DO - 10.1038/sj.ejhg.5201843 ID - Alarcon2007 ER -