EPCAM germ line deletions as causes of lynch syndrome in Spanish patients

Journal of Molecular Diagnostics

Volumn 12, Issue 6, 2010, Pages 765-770

  Guarinos, Carla ^a   Castillejo, Adela ^a   Barberá, Víctor Manuel ^a   Pérez Carbonell, Lucía ^b   Sánchez Heras, Ana Beatriz ^a   Segura, Ángel ^c   Guillén Ponce, Carmen ^a   Martínez Cantó, Ana ^a   Castillejo, María Isabel ^a   Egoavil, Cecilia Magdalena ^a   Jover, Rodrigo ^b   Payá, Artemio ^b   Alenda, Cristina ^b   Soto, José Luís ^a  

^a Elche University Hospital   (Spain)

^b HOSPITAL GENERAL UNIVERSITARIO DE ALICANTE   (Spain)

^c HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

EPITHELIAL CELL ADHESION MOLECULE; PROTEIN MSH2; PROTEIN MSH6;

ADULT; AGED; ARTICLE; DNA METHYLATION; EXON; FAMILY; FEMALE; GENE DELETION; GENE LOCUS; GENETIC ANALYSIS; GERM LINE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN TISSUE; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POINT MUTATION; POLYMERASE CHAIN REACTION; POPULATION; PROTEIN ANALYSIS; PROTEIN DEPLETION; PROTEIN EXPRESSION; SPAIN;

EID: 78049393858     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2010.100039     Document Type: Article

References (23)

1. Lynch HT, de la Chapelle A: Hereditary colorectal cancer. N Engl J Med 2003, 348:919-932
2. Piñol V, Castells A, Andreu M, Castellví-Bel S, Alenda C, Llor X, Xicola RM, Rodríguez-Moranta F, Payá A, Jover R, Bessa X: Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 2005, 293:1986-1994
3. Ligtenberg MJ, Kuiper RP, Chan TL, Goossens M, Hebeda KM, Voorendt M, Lee TY, Bodmer D, Hoenselaar E, Hendriks-Cornelissen SJ, Tsui WY, Kong CK, Brunner HG, van Kessel AG, Yuen ST, van Krieken JH, Leung SY, Hoogerbrugge N: Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1. Nat Genet 2009, 41:112-117
4. Kovacs ME, Papp J, Szentirmay Z, Otto S, Olah E: Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum Mutat 2009, 30:197-203
5. Went PT, Lugli A, Meier S, Bundi M, Mirlacher M, Sauter G, Dirnhofer S: Frequent EpCam protein expression in human carcinomas. Hum Pathol 2004, 35:122-128
6. Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S: Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004, 96:261-268 (Pubitemid 38256271)
7. Vasen HF, Möslein G, Alonso A, Bernstein I, Bertario L, Blanco I, Burn J, Capella G, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Mecklin JP, Møller P, Nagengast F, Parc Y, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Wijnen J: Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet 2007, 44:353-362
8. Buhard O, Cattaneo F, Wong YF, Yim SF, Friedman E, Flejou JF, Duval A, Hamelin R: Multipopulation analysis of polymorphisms in five mononucleotide repeats used to determine the microsatellite instability status of human tumors. J Clin Oncol 2006, 24:241-251
9. Domingo E, Laiho P, Ollikainen M, Pinto M, Wang L, French AJ, Westra J, Frebourg T, Espín E, Armengol M, Hamelin R, Yamamoto H, Hofstra RM, Seruca R, Lindblom A, Peltomäki P, Thibodeau SN, Aaltonen LA, Schwartz S Jr: BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet 2004, 41:664-668
10. Perez-Carbonell L, Alenda C, Paya A, Castillejo A, Barbera VM, Guillen-Ponce C, Rojas E, Acame N, Gutierrez-Aviño FJ, Castells A, Llor X, Andreu M, Soto JL, Jover R: Methylation analysis of MLH1 improves the selection of patients for genetic testing in Lynch syndrome. J Mol Diagn 2010, 12:498-504
11. Wahlberg SS, Schmeits J, Thomas G, Loda M, Garber J, Syngal S, Kolodner RD, Fox E: Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families. Cancer Res 2002, 62:3485-3492
12. Kolodner RD, Tytell JD, Schmeits JL, Kane MF, Gupta RD, Weger J, Wahlberg S, Fox EA, Peel D, Ziogas A, Garber JE, Syngal S, Anton-Culver H, Li FP: Germ-line msh6 mutations in colorectal cancer families. Cancer Res 1999, 59:5068-5074
13. Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, La Jeunesse J, Nakagawa H, Westman JA, Prior TW, Clendenning M, Penzone P, Lombardi J, Dunn P, Cohn DE, Copeland L, Eaton L, Fowler J, Lewandowski G, Vaccarello L, Bell J, Reid G, de la Chapelle A: Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 2006, 66:7810-7817
14. van der Klift H, Wijnen J, Wagner A, Verkuilen P, Tops C, Otway R, Kohonen-Corish M, Vasen H, Oliani C, Barana D, Moller P, Delozier-Blanchet C, Hutter P, Foulkes W, Lynch H, Burn J, Möslein G, Fodde R: Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2. MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Genes Chromosomes Cancer 2005, 44:123-138
15. Lagerstedt Robinson K, Liu T, Vandrovcova J, Halvarsson B, Clendenning M, Frebourg T, Papadopoulos N, Kinzler KW, Vogelstein B, Peltomäki P, Kolodner RD, Nilbert M, Lindblom A: Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst 2007, 99:291-299
16. Mvundura M, Grosse SD, Hampel H, Palomaki GE: The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet Med 2010, 12:93-104
17. Suter CM, Martin DI, Ward RL: Germline epimutation of MLH1 in individuals with multiple cancers. Nat Genet 2004, 36:497-501
18. Chan TL, Yuen ST, Kong CK, Chan YW, Chan AS, Ng WF, Tsui WY, Lo MW, Tam WY, Li VS, Leung SY: Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer. Nat Genet 2006, 38:1178-1183
19. Barbour VM, Tufarelli C, Sharpe JA, Smith ZE, Ayyub H, Heinlein CA, Sloane-Stanley J, Indrak K, Wood WG, Higgs DR: alpha-thalassemia resulting from a negative chromosomal position effect. Blood 2000, 96:800-807
20. Ogino S, Hazra A, Tranah GJ, Kirkner GJ, Kawasaki T, Nosho K, Ohnishi M, Suemoto Y, Meyerhardt JA, Hunter DJ, Fuchs CS: MGMT germline polymorphism is associated with somatic MGMT promoter methylation and gene silencing in colorectal cancer. Carcinogenesis 2007, 28:1985-1990 (Pubitemid 47514483)
21. Samowitz WS, Curtin K, Wolff RK, Albertsen H, Sweeney C, Caan BJ, Ulrich CM, Potter JD, Slattery ML: The MLH1-93 G>A promoter polymorphism and genetic and epigenetic alterations in colon cancer. Genes Chromosomes Cancer 2008, 47:835-844
22. Halvarsson B, Lindblom A, Rambech E, Lagerstedt K, Nilbert M: Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer? Virchows Arch 2004, 444:135-141
23. Niessen RC, Hofstra RM, Westers H, Ligtenberg MJ, Kooi K, Jager PO, de Groote ML, Dijkhuizen T, Olderode-Berends MJ, Hollema H, Kleibeuker JH, Sijmons RH: Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome. Genes Chromosomes Cancer 2009, 48:737-744