Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review

Author:

Tutlewska Katarzyna,Lubinski Jan,Kurzawski Grzegorz

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Oncology

Reference34 articles.

1. Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen J, Lubiński J, Müller H, Ponz De Leon M, Vasen HF, Möslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Blanco I, Bulow S, Burn J, Capella G, Colas C, Engel C, Frayling I, Rahner N, Hes FJ, Hodgson S, Mecklin JP, Møller P, Myrhøj T, Nagengast FM, Parc Y: Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Fam Cancer 2010, 9: 109–115. 10.1007/s10689-009-9291-3

2. Ligtenberg MJL, Kuiper RP, van Kessel AG, Hoogerbrugge N: EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients. Fam Cancer 2012. 10.1007/s10689–012–9591-x

3. Moreira L, Balaguer F, Lindor N, de la Chapelle A, Hampel H, Aaltonen LA, Hopper JL, Le Marchand L, Gallinger S, Newcomb PA, Haile R, Thibodeau SN, Gunawardena S, Jenkins MA, Buchanan DD, Potter JD, Baron JA, Ahnen DJ, Moreno V, Andreu M, Ponz De Leon M, Rustgi AK, Castells A: EPICOLON consortium: identification of Lynch syndrome among patients with colorectal cancer. JAMA 2012, 308: 1555–65. 10.1001/jama.2012.13088

4. Musulen E, Blanco I, Carrato C, Fernandez-Figueras MT, Pineda M, Capella G, Ariza A: Usefulness of epithelial cell adhesion molecule expression in the algorithmic approach to Lynch syndrome identification. Hum Pathol 2013, 44: 412–6. 10.1016/j.humpath.2012.06.006

5. Kuiper RP, Vissers LE, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M, Haufe A, Kamping E, Niessen RC, Hogervorst FB, Gille JJ, Redeker B, Tops CM, van Gijn ME, van den Ouweland AM, Rahner N, Steinke V, Kahl P, Holinski-Feder E, Morak M, Kloor M, Stemmler S, Betz B, Hutter P, Bunyan DJ, Syngal S, Culver JO, Graham T, Ligtenberg MJ: Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Hum Mutat 2011, 32: 407–14. 10.1002/humu.21446

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