CTNNB1-mutant colorectal carcinomas with immediate invasive growth: a model of interval cancers in Lynch syndrome

de la Chapelle A (2005) The incidence of Lynch syndrome. Fam Cancer 4(3):233–237. doi: 10.1007/s10689-004-5811-3

Roy HK, Lynch HT (2003) Diagnosing Lynch syndrome: is the answer in the mouth? Gut 52(12):1665–1667

Jasperson KW, Tuohy TM, Neklason DW, Burt RW (2010) Hereditary and familial colon cancer. Gastroenterology 138(6):2044–2058. doi: 10.1053/j.gastro.2010.01.054

Hampel H, Stephens JA, Pukkala E, Sankila R, Aaltonen LA, Mecklin JP, de la Chapelle A (2005) Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology 129(2):415–421. doi: 10.1016/j.gastro.2005.05.011

Quehenberger F, Vasen HF, van Houwelingen HC (2005) Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet 42(6):491–496. doi: 10.1136/jmg.2004.024299

Knudson AG Jr (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68(4):820–823

Markowitz S, Wang J, Myeroff L, Parsons R, Sun L, Lutterbaugh J, Fan RS, Zborowska E, Kinzler KW, Vogelstein B et al (1995) Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science 268(5215):1336–1338

Ionov Y, Yamamoto H, Krajewski S, Reed JC, Perucho M (2000) Mutational inactivation of the proapoptotic gene BAX confers selective advantage during tumor clonal evolution. Proc Natl Acad Sci USA 97(20):10872–10877. doi: 10.1073/pnas.190210897

Duval A, Rolland S, Compoint A, Tubacher E, Iacopetta B, Thomas G, Hamelin R (2001) Evolution of instability at coding and non-coding repeat sequences in human MSI-H colorectal cancers. Hum Mol Genet 10(5):513–518

Woerner SM, Kloor M, von Knebel Doeberitz M, Gebert JF (2006) Microsatellite instability in the development of DNA mismatch repair deficient tumors. Cancer Biomark Sect A Dis Mark 2(1–2):69–86

de Vos tot Nederveen Cappel WH, Jarvinen HJ, Lynch PM, Engel C, Mecklin JP, Vasen HF (2013) Colorectal surveillance in Lynch syndrome families. Fam Cancer 12(2):261–265. doi: 10.1007/s10689-013-9631-1

Jarvinen HJ, Mecklin JP, Sistonen P (1995) Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 108(5):1405–1411

Jarvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomaki P, De La Chapelle A, Mecklin JP (2000) Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 118(5):829–834

de Vos tot Nederveen Cappel WH, Nagengast FM, Griffioen G, Menko FH, Taal BG, Kleibeuker JH, Vasen HF (2002) Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families. Dis Colon Rectum 45(12):1588–1594. doi: 10.1097/01.DCR.0000034502.64985.3F

Engel C, Rahner N, Schulmann K, Holinski-Feder E, Goecke TO, Schackert HK, Kloor M, Steinke V, Vogelsang H, Moslein G, Gorgens H, Dechant S, von Knebel Doeberitz M, Ruschoff J, Friedrichs N, Buttner R, Loeffler M, Propping P, Schmiegel W, German HC (2010) Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer. Clin Gastroenterol Hepatol Off Clin Pract J Am Gastroenterol Assoc 8(2):174–182. doi: 10.1016/j.cgh.2009.10.003

Mecklin JP, Aarnio M, Laara E, Kairaluoma MV, Pylvanainen K, Peltomaki P, Aaltonen LA, Jarvinen HJ (2007) Development of colorectal tumors in colonoscopic surveillance in Lynch syndrome. Gastroenterology 133(4):1093–1098. doi: 10.1053/j.gastro.2007.08.019

Kloor M, Huth C, Voigt AY, Benner A, Schirmacher P, von Knebel Doeberitz M, Blaker H (2012) Prevalence of mismatch repair-deficient crypt foci in Lynch syndrome: a pathological study. Lancet Oncol 13(6):598–606. doi: 10.1016/S1470-2045(12)70109-2

Staffa L, Echterdiek F, Nelius N, Benner A, Werft W, Lahrmann B, Grabe N, Schneider M, Tariverdian M, von Knebel Doeberitz M, Blaker H, Kloor M (2015) Mismatch repair-deficient crypt foci in Lynch syndrome–molecular alterations and association with clinical parameters. PLoS One 10(3):e0121980. doi: 10.1371/journal.pone.0121980

Mirabelli-Primdahl L, Gryfe R, Kim H, Millar A, Luceri C, Dale D, Holowaty E, Bapat B, Gallinger S, Redston M (1999) Beta-catenin mutations are specific for colorectal carcinomas with microsatellite instability but occur in endometrial carcinomas irrespective of mutator pathway. Cancer Res 59(14):3346–3351

Chiang JM, Chou YH, Chen TC, Ng KF, Lin JL (2002) Nuclear beta-catenin expression is closely related to ulcerative growth of colorectal carcinoma. Br J Cancer 86(7):1124–1129. doi: 10.1038/sj.bjc.6600214

Su LK, Vogelstein B, Kinzler KW (1993) Association of the APC tumor suppressor protein with catenins. Science 262(5140):1734–1737

Peifer M (1993) Cancer, catenins, and cuticle pattern: a complex connection. Science 262(5140):1667–1668

Anastas JN, Moon RT (2013) WNT signalling pathways as therapeutic targets in cancer. Nat Rev Cancer 13(1):11–26. doi: 10.1038/nrc3419

Huels DJ, Ridgway RA, Radulescu S, Leushacke M, Campbell AD, Biswas S, Leedham S, Serra S, Chetty R, Moreaux G, Parry L, Matthews J, Song F, Hedley A, Kalna G, Ceteci F, Reed KR, Meniel VS, Maguire A, Doyle B, Soderberg O, Barker N, Watson A, Larue L, Clarke AR, Sansom OJ (2015) E-cadherin can limit the transforming properties of activating beta-catenin mutations. EMBO J 34(18):2321–2333. doi: 10.15252/embj.201591739

Miyaki M, Iijima T, Kimura J, Yasuno M, Mori T, Hayashi Y, Koike M, Shitara N, Iwama T, Kuroki T (1999) Frequent mutation of beta-catenin and APC genes in primary colorectal tumors from patients with hereditary nonpolyposis colorectal cancer. Cancer Res 59(18):4506–4509

Johnson V, Volikos E, Halford SE, Eftekhar Sadat ET, Popat S, Talbot I, Truninger K, Martin J, Jass J, Houlston R, Atkin W, Tomlinson IP, Silver AR (2005) Exon 3 beta-catenin mutations are specifically associated with colorectal carcinomas in hereditary non-polyposis colorectal cancer syndrome. Gut 54(2):264–267. doi: 10.1136/gut.2004.048132

Shia J, Stadler ZK, Weiser MR, Vakiani E, Mendelsohn R, Markowitz AJ, Shike M, Boland CR, Klimstra DS (2015) Mismatch repair deficient-crypts in non-neoplastic colonic mucosa in Lynch syndrome: insights from an illustrative case. Fam Cancer 14(1):61–68. doi: 10.1007/s10689-014-9751-2

Burn J, Gerdes AM, Macrae F, Mecklin JP, Moeslein G, Olschwang S, Eccles D, Evans DG, Maher ER, Bertario L, Bisgaard ML, Dunlop MG, Ho JW, Hodgson SV, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar R, Side L, Scott RJ, Thomas HJ, Vasen HF, Barker G, Crawford G, Elliott F, Movahedi M, Pylvanainen K, Wijnen JT, Fodde R, Lynch HT, Mathers JC, Bishop DT, Investigators C (2011) Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet 378(9809):2081–2087. doi: 10.1016/S0140-6736(11)61049-0

von Knebel Doeberitz M, Kloor M (2013) Towards a vaccine to prevent cancer in Lynch syndrome patients. Fam Cancer 12(2):307–312. doi: 10.1007/s10689-013-9662-7

Schwitalle Y, Kloor M, Eiermann S, Linnebacher M, Kienle P, Knaebel HP, Tariverdian M, Benner A, von Knebel Doeberitz M (2008) Immune response against frameshift-induced neopeptides in HNPCC patients and healthy HNPCC mutation carriers. Gastroenterology 134(4):988–997. doi: 10.1053/j.gastro.2008.01.015

Bosch LJ, Carvalho B, Fijneman RJ, Jimenez CR, Pinedo HM, van Engeland M, Meijer GA (2011) Molecular tests for colorectal cancer screening. Clin Colorectal Cancer 10(1):8–23. doi: 10.3816/CCC.2011.n.002

Robertson DJ, Imperiale TF (2015) Stool testing for colorectal cancer screening. Gastroenterology 149(5):1286–1293. doi: 10.1053/j.gastro.2015.05.045