EPICOLON project: Contribution to the knowledge of Lynch syndrome and other familial or hereditary colorectal cancer;Proyecto EPICOLON: Una contribución al conocimiento del síndrome de Lynch y otras formas hereditarias o familiares de cancer colorrectal

Medicina Clinica

Volumn 128, Issue 2, 2007, Pages 55-60

  Castells, Antoni ^a   Andreu, Montserrat ^b  

^a HOSPITAL CLÍNIC   (Spain)

^b HOSPITAL DEL MAR   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; PROTEIN MLH1; PROTEIN MSH2;

AUTOSOMAL DOMINANT DISORDER; CANCER SCREENING; CLINICAL FEATURE; COLON POLYPOSIS; COLORECTAL CANCER; DISEASE ASSOCIATION; FAMILIAL CANCER; GENE EXPRESSION; GENE MUTATION; HEREDITY; HUMAN; IMMUNOHISTOCHEMISTRY; INCIDENCE; PRACTICE GUIDELINE; REVIEW; SPAIN;

EID: 33846917193     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: 10.1157/13097470     Document Type: Article

References (42)

1. Castells A, Marzo M, Bellas B, Amador F, Lanas A, Mascort J, et al. Guía de práctica clínica en prevención del cáncer colorrectal. Gastroenterol Hepatol. 2004;27:573-634.
2. Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology. 2001;121:198-213.
3. Lynch HT, De la Chapelle A. Hereditary colorectal cancer. N Engl J Med. 2003;348:919-32.
4. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991;34:424-5.
5. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;116:1453-6.
6. Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, et al. 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. 1998;58:5248-57.
7. Chung DC, Rustgi AK. The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications. Ann Intern Med. 2003;138:560-70.
8. Piñol V, Castells A, Andreu M, Castellvi-Bel S, Alenda C, Llor X, et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary non-polyposis colorectal cancer. JAMA. 2005;293:1986-94.
9. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005;352:1851-60.
10. Rodríguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, et al. A National Cancer Institute Workshop on hereditary non-polyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst. 1997;89:1758-62.
11. Umar A, Boland CR, Terdiman JP, Syngal S, De la Chapelle A, Ruschoff J, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96:261-8.
12. Caldes T, Godino J, De la Hoya M, García Carbonero I, Pérez Segura P, Eng C, et al. Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain. Int J Cancer. 2002;98;774-9.
13. Bian Y, Caldes T, Wijnen J, Franken P, Vasen H, Kaklamani V, et al. TGFBR1*6A may contribute to hereditary colorectal cancer. J Clin Oncol. 2005;23:3074-8.
14. Palicio M, Balmana J, González S, Blanco I, Marcuello E, Peinado MA, et al. Mismatch repair gene analysis in Catalonian families with colorectal cancer. J Med Genet. 2002;39;E29.
15. Risques RA, Moreno V, Ribas M, Marcuello E, Capella G, Peinado MA. Genetic pathways and genome-wide determinants of clinical outcome in colorectal cancer. Cancer Res. 2003;63:7206-14.
16. Rodríguez-López R, Osorio A, Ribas G, Pollan M, Sánchez-Pulido L, De la Hoya M, et al. The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations. Int J Cancer. 2004;110:845-9.
17. Piñol V, Andreu M, Castells A, Payá A, Bessa X, Jover R. Frequency of hereditary non-polyposis colorectal cancer and other colorectal cancer familial forms in Spain. A multicenter, prospective, nation-wide study. Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Eur J Gastroenterol Hepatol. 2004;16:39-45.
18. Lindor NM, Burgart LJ, Leontovich O, Goldberg RM, Cunningham JM, Sargent DJ, et al. Immunohistochemistry versus microsatellite instability testing in phenotypmg colorectal tumors. J Clin Oncol. 2002;20;1043-8.
19. Wijnen J, Khan PM, Vasen H, Van der Klift H, Mulder A, Van Leeuwen-Cornelisse I, et al. Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations. Am J Hum Genet. 1997;61:329-35.
20. Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomaki P, et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med. 1998;338:1481-7.
21. Percesepe A, Borghi F, Menigatti M, Losi L, Foroni M, Di Gregorio C, et al. Molecular screening for hereditary nonpolyposis colorectal cancer: a prospective, population-based study. J Clin Oncol. 2001;19:3944-50.
22. Lindor NM, Rabe K, Petersen GM, Haile R, Casey G, Baron J, et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency; familial colorectal cancer type X. JAMA. 2005;293:1979-85.
23. Llor X, Pons E, Xicola RM, Castells A, Alenda C, Pinol V, et al. Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway. Clin Cancer Res. 2005;11:7304-10.
24. Jass JR, Smyrk TC, Stewart SM, Lane MR, Lanspa SJ, Lynch HT. Pathology of hereditary non-polyposis colorectal cancer. Anticancer Res. 1994;14:1631-4.
25. Lynch HT, Boland CR, Gong G, Shaw TG, Lynch PM, Fodde R, et al. Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications. Eur J Hum Genet. 2006;14:390-402.
26. Rodríguez-Moranta F, Castells A, Andreu M, Piñol V, Castellví-Bel S, Alenda C, et al. Clinical performance of original and revised Bethesda guidelines for the identification of MSH2/MLH1 gene carriers in patients with newly diagnosed colorectal cancer. Proposal of a new and simpler set of recommendations. Am J Gastroenterol. 2006;101:1104-11.
27. Ballesté B, Bessa X, Bellosillo B, Maragon E, Torra S, Llor X, et al. Papel de la mutación BRAF en la estrategia de detección del cáncer colorrectal hereditario no asociado a poliposis (CCHNP). Gastroenterol Hepatol. 2006;29:156-7.
28. Domingo E, Espin E, Armengol M, Oliveira C, Pinto M, Duval A, et al. Activated BRAF targets proximal colon tumors with mismatch repair deficiency and MLH1 inactivation. Genes Chromosomes Cancer. 2004;39: 138-42.
29. Domingo E, Niessen RC, Oliveira C, Alhopuro P, Moutinho C, Espin E, et al. BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes. Oncogene. 2005;24:3995-8.
30. Xicola R, Llor X, Pons E, Giros A, Gasull M. Selección y utilidad de los marcadores de microsatélites para la clasificación de los cánceres colorrectales según el grado de inestabilidad. Gastroenterol Hepatol. 2006;29:164-5.
31. Boland CR. Evolution of the nomenclature for the hereditary colorectal cancer syndromes. Fam Cancer. 2005;4:211-8.
32. Vasen HF, Boland CR. Progress in genetic testing, classification, and identification of Lynch syndrome. JAMA. 2005;293:2028-30.
33. Castellvi-Bel S, Castells A, Strunk M, Ferrández A, Piazuelo E, Mila M, et al. Genomic rearrangements in MSH2 and MLH1 are rare mutational events in Spanish patients with hereditary nonpolyposis colorectal cancer. Cancer Lett. 2005;225:93-8.
34. Jover R, Payá A, Alenda C, Castells A, Llor X, Andreu M. Clinico-pathological differences regarding MLH1 and MSH2 expression in microsatellite instability colorectal carcinoma. Gastroenterology. 2005;128:A-567.
35. Ribic CM, Sargent DJ, Moore MJ, Thibodeau SN, French AJ, Goldberg RM, et al. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med. 2003;349:247-57.
36. Jover R, Zapater P, Castells A, Llor X, Andreu M, Cubiella J, et al. Mismatch repair status in the prediction of benefit from adjuvant fluorouracil chemotherapy on colorectal cancer. Gut. 2006;55:848-55.
37. Castells A, Paya A, Alenda C, Rodríguez-Moranta F, Agrelo R, Andreu M, et al. Cyclooxygenase 2 expression in colorectal cancer with DNA mismatch repair deficiency. Clin Cancer Res. 2006;12:1686-92.
38. Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 2003;348:791-9.
39. Farrington SM, Tenesa A, Barnetson R, Wiltshire A, Prendergast J, Porteous M, et al. Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am J Hum Genet. 2005;77:1.
40. Balaguer F, Castellví-Bel S, Gonzalo S, Castells A. Prevalencia de mutaciones en el gen MYH en el cáncer colorrectal en España: implicación de las mutaciones monoalélicas en la agregación familiar de esta neoplasia. Gastroenterol Hepatol. 2006;29:165.
41. Pinol V, Andreu M, Castells A, Paya A, Bessa X, Jover R. Synchronous colorectal neoplasms in patients with colorectal cancer: predisposing individual and familial factors. Dis Colon Rectum. 2004;47:1192-200.
42. Bujanda L, Sarasqueta C, Castells A, Piñol V, Cuquerella J, Medina E, et al. Grado de aceptación de la colonoscopia en familiares de primer grado de pacientes con carcinoma colorrectal. Gastroenterol Hepatol. 2006;29:203.