Screening for lynch syndrome in colorectal cancer: Are we doing enough?

Annals of Surgical Oncology

Volumn 19, Issue 3, 2012, Pages 809-816

  Canard, Guillaume ^a   Lefevre, Jeremie H ^a   Colas, Chrystelle ^b   Coulet, Florence ^b   Svrcek, Magali ^a   Lascols, Olivier ^a   Hamelin, Richard ^c   Shields, Conor ^a   Duval, Alex ^c   Fléjou, Jean Francois ^a   Soubrier, Florent ^b   Tiret, Emmanuel ^a   Parc, Yann ^a  

^a HÔPITAL SAINT ANTOINE   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c CENTRE DE RECHERCHE SAINT ANTOINE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; DNA BINDING PROTEIN; G T MISMATCH BINDING PROTEIN; G-T MISMATCH-BINDING PROTEIN; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADULT; AGED; ARTICLE; CANCER SCREENING; CLINICAL ARTICLE; COLORECTAL CANCER; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DNA METHYLATION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MICROSATELLITE INSTABILITY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE; PROMOTER REGION; PROSPECTIVE STUDY; SCREENING TEST; COLORECTAL TUMOR; GENETIC SCREENING; MIDDLE AGED; MUTATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; AGED, 80 AND OVER; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA METHYLATION; DNA-BINDING PROTEINS; FEMALE; GENETIC TESTING; GERM-LINE MUTATION; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PROMOTER REGIONS, GENETIC; YOUNG ADULT;

EID: 84862265497     PISSN: 10689265     EISSN: 15344681     Source Type: Journal    
DOI: 10.1245/s10434-011-2014-7     Document Type: Article

References (27)

1. 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.
2. Cunningham JM, Kim CY, Christensen ER, Tester DJ, Parc Y, Burgart LJ, et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet. 2001;69:780-90. (Pubitemid 32868523)
3. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med. 2003;348:919-32. (Pubitemid 36298000)
4. Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, et al. A National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst. 1997;89:1758-62.
5. de la Chapelle A. Genetic predisposition to colorectal cancer. Nat Rev Cancer. 2004;4:769-80.
6. Renkonen E, Zhang Y, Lohi H, Salovaara R, Abdel-Rahman WM, Nilbert M, et al. Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. J Clin Oncol. 2003;21:3629-37. (Pubitemid 46594056)
7. Vasen HF, Moslein G, Alonso A, Bernstein I, Bertario L, Blanco I, et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet. 2007;44:353-62. (Pubitemid 46953715)
8. 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. (Pubitemid 28521189)
9. 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. (Pubitemid 38256271)
10. Julie C, Tresallet C, Brouquet A, Vallot C, Zimmermann U, Mitry E, et al. Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening. Am J Gastroenterol. 2008;103:2825-35.
11. Pinol 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 nonpolyposis colorectal cancer. JAMA. 2005;293:1986-94. (Pubitemid 40570892)
12. Barnetson RA, Tenesa A, Farrington SM, Nicholl ID, Cetnarskyj R, Porteous ME, et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med. 2006;354:2751-63. (Pubitemid 43974193)
13. Kane MF, Loda M, Gaida GM, Lipman J, Mishra R, Goldman H, et al. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res. 1997;57:808-11. (Pubitemid 27097998)
14. Rigau V, Sebbagh N, Olschwang S, Paraf F, Mourra N, Parc Y, et al. Microsatellite instability in colorectal carcinoma. The comparison of immunohistochemistry and molecular biology suggests a role for hMSH6 [correction of hMLH6] immunostaining. Arch Pathol Lab Med. 2003;127:694-700. (Pubitemid 36617287)
15. Ewald J, Rodrigue CM, Mourra N, Lefevre JH, Flejou JF, Tiret E, et al. Immunohistochemical staining for mismatch repair proteins, and its relevance in the diagnosis of hereditary nonpolyposis colorectal cancer. Br J Surg. 2007;94:1020-7. (Pubitemid 47236549)
16. Suraweera N, Duval A, Reperant M, Vaury C, Furlan D, Leroy K, et al. Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology. 2002;123:1804-11. (Pubitemid 35408304)
17. Buhard O, Cattaneo F, Wong YF, Yim SF, Friedman E, Flejou JF, et al. Multipopulation analysis of polymorphisms in five mononucleotide repeats used to determine the microsatellite instability status of human tumors. J Clin Oncol. 2006;24:241-51. (Pubitemid 46622053)
18. Capel E, Flejou JF, Hamelin R. Assessment of MLH1 promoter methylation in relation to gene expression requires specific analysis. Oncogene. 2007;26:7596-600. (Pubitemid 350207716)
19. de la Chapelle A, Hampel H. Clinical relevance of microsatellite instability in colorectal cancer. J Clin Oncol. 2010;28:3380-7.
20. Parc Y, Gueroult S, Mourra N, Serfaty L, Flejou JF, Tiret E, et al. Prognostic significance of microsatellite instability determined by immunohistochemical staining of MSH2 and MLH1 in sporadic T3N0M0 colon cancer. Gut. 2004;53:371-5. (Pubitemid 38241332)
21. Baudhuin LM, Burgart LJ, Leontovich O, Thibodeau SN. Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome. Fam Cancer. 2005;4:255-65. (Pubitemid 41242196)
22. Palomaki GE, McClain MR, Melillo S, Hampel HL, Thibodeau SN. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med. 2009;11:42-65.
23. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol. 2008;26:5783-8.
24. Mitchell RJ, Brewster D, Campbell H, Porteous ME, Wyllie AH, Bird CC, et al. Accuracy of reporting of family history of colorectal cancer. Gut. 2004;53:291-5. (Pubitemid 38125521)
25. Vasen HF, Moslein G, Alonso A, Aretz S, Bernstein I, Bertario L, et al. Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Fam Cancer. 2010;9:109-15.
26. Jarvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomaki P, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000;118:829-34. (Pubitemid 30243745)
27. Ligtenberg MJ, Kuiper RP, Chan TL, Goossens M, Hebeda KM, Voorendt M, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 30 exons of TACSTD1. Nat Genet. 2009;41:112-7.