Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline

Journal of Genetic Counseling

Volumn 21, Issue 4, 2012, Pages 484-493

  Weissman, Scott M ^a   Burt, Randall ^b   Church, James ^c   Erdman, Steve ^d,e   Hampel, Heather ^f   Holter, Spring ^g   Jasperson, Kory ^b   Kalady, Matt F ^b   Haidle, Joy Larsen ^h   Lynch, Henry T ⁱ   Palaniappan, Selvi ^j   Wise, Paul E ^k   Senter, Leigha ^f  

^a NORTHSHORE UNIVERSITY HEALTHSYSTEM   (United States)

^b UNIVERSITY OF UTAH   (United States)

^c LERNER RESEARCH INSTITUTE   (United States)

^d NATIONWIDE CHILDREN S HOSPITAL   (United States)

^e OHIO STATE UNIVERSITY   (United States)

^f OHIO STATE UNIVERSITY   (United States)

^g MOUNT SINAI HOSPITAL   (Canada)

^h North Memorial Humphrey Cancer Center   (United States)

ⁱ CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j NORTHSIDE HOSPITAL   (United States)

^k VANDERBILT UNIVERSITY   (United States)

more..

Author keywords

Colorectal neoplasms; DNA mismatch repair; Genetic testing; Immunohistochemistry; Lynch syndrome; Microsatellite instability; Practice guideline; Uterine neoplasms

Indexed keywords

ADENOSINE TRIPHOSPHATASE; B RAF KINASE; BRAF PROTEIN, HUMAN; CELL ADHESION MOLECULE; DNA BINDING PROTEIN; EPCAM PROTEIN, HUMAN; MLH1 PROTEIN, HUMAN; NUCLEAR PROTEIN; PMS2 PROTEIN, HUMAN; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR ANTIGEN;

ARTICLE; BASE MISPAIRING; COLORECTAL TUMOR; DNA METHYLATION; DNA REPAIR; GENETIC COUNSELING; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; IMMUNOHISTOCHEMISTRY; MEDICAL SOCIETY; MICROSATELLITE INSTABILITY; PATHOLOGY; PRACTICE GUIDELINE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; ANTIGENS, NEOPLASM; BASE PAIR MISMATCH; CELL ADHESION MOLECULES; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA METHYLATION; DNA REPAIR; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; IMMUNOHISTOCHEMISTRY; MICROSATELLITE INSTABILITY; NUCLEAR PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; SOCIETIES, MEDICAL;

EID: 84863609627     PISSN: 10597700     EISSN: 15733599     Source Type: Journal    
DOI: 10.1007/s10897-011-9465-7     Document Type: Review

References (56)

1. Backes, F. J., Leon, M. E., Ivanov, I., Suarez, A., Frankel, W. L., Hampel, H., et al. (2009). Prospective evaluation of DNA mismatch repair protein expression in primary endometrial cancer. Gynaecological Oncology, 114, 486-490.
2. Baglietto, L., Lindor, N. M., Dowty, J. G., White, D. M., Wagner, A., Gomez Garcia, E. B., et al. (2009). Risks of Lynch syndrome cancers for MSH6 mutation carriers. Journal of the National Cancer Institute, 102(3), 193-201.
3. Bao, F., Panarelli, N. C., Rennert, H., Sherr, D. L., & Yantiss, R. K. (2010). Neoadjuvant therapy induces loss of MSH6 expression in colorectal carcinoma. The American Journal of Surgical Pathology, 34, 1798-1804.
4. Barrow, E., Alduaij, W., Robinson, L., Shenton, A., Clancy, T., Lalloo, F., et al. (2008). Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations. Clinical Genetics, 74(3), 233-242.
5. Boland, C. R. (2005). Evolution of the nomenclature for the hereditary colorectal cancer syndromes. Familial Cancer, 4(3), 211-218. (Pubitemid 41242189)
6. Boland, C. R., Thibodeau, S. N., Hamilton, S. R., Sidransky, D., Eshleman, J. R., Burt, R. W., et al. (1998). 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 colo-rectal cancer. Cancer Research, 58, 5248-5257. (Pubitemid 28521189)
7. Capelle, L. G., Van Grieken, N. C., Lingsma, H. F., Steyerberg, E. W., Klokman, W. J., Bruno, M. J., et al. (2010). Risk and epidemio-logical time trends of gastric cancer in Lynch syndrome carriers in the Netherlands. Gastroenterology, 138, 487-492.
8. Chang, D. K., Metzgar, D., Willis, C., & Boland, C. R. (2001). Micro-satellites in the eukaryotic DNA mismatch repair genes as modulators of evolutionary mutation rate. Genome Research, 11, 1145-1146. (Pubitemid 32677287)
9. Chao, E. C., Velasquez, J. L., Witherspoon, M. S., Rozek, L. S., Peel, D., Ng, P., et al. (2008). Accurate classification of MLH1/MSH2 mis-sense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). Human Mutation, 29(6), 852-860. (Pubitemid 351794136)
10. Choi, M. Y., Lauwers, G. Y., Hur, C., Willett, C. G., & Chung, D. C. (2007). Microsatellite instability is frequently observed in rectal cancer and influenced by neoadjuvant chemoradiation. International Journal of Radiation Oncology, Biology, and Physics, 68(5), 1584. (Pubitemid 47176835)
11. Clendenning, M., Hampel, H., LaJeunesse, J., Lindblom, A., Lockman, J., Nilbert, M., et al. (2006). Long-range PCR facilitates the identification of PMS2-specific mutations. Human Mutation, 27, 490-495. (Pubitemid 43673337)
12. De Jong, A. E., van Puijenbroek, M., Hendriks, Y., Tops, C., Wijnen, J., Ausems, M. G., et al. (2004). Microsatellite instability, immu-nohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clinical Cancer Research, 10(3), 972-980. (Pubitemid 38198898)
13. Evaluation of Genomic Applications in Practice and Prevention Working Group. (2009). Recommendations from the EGAPP working group: genetic testing strategies in the newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genetics in Medicine, 11(1), 35-41.
14. Garg, K., Leitao, M. M., Kauff, N. D., Hansen, J., Kosarin, K., Shia, J., et al. (2009). Selection of endometrial carcinomas for DNA mismatch repair protein immunohistochemistry using patient age and tumor morphology enhances detection of mismatch repair abnormalities. The American Journal of Surgical Pathology, 33, 925-933.
15. Hampel, H. (2010). Point: justification for Lynch syndrome screening among all patients with newly diagnosed colorectal cancer. Journal of the National Comprehensive Cancer Network, 8, 597-601.
16. Hampel, H., Frankel, W. L., Martin, E., Arnold, M., Khanduja, K., Kuebler, P., et al. (2005a). Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). The New England Journal of Medicine, 352(18), 1851-1860.
17. Hampel, H., Stephens, J. A., Pukkala, E., Sankila, R., Aaltonen, L. A., Mecklin, J. P., et al. (2005b). Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology, 129(2), 415-421. (Pubitemid 41096629)
18. Hampel, H., Frankel, W., Panescu, J., Lockman, J., Sotamaa, K., Fix, D., et al. (2006). Screening for Lynch syndrome (hereditary nonpoly-posis colorectal cancer) among EC patients. Cancer Research, 66(15), 7810-7817. (Pubitemid 44289242)
19. Hampel, H., Panescu, J., Lockman, J., Sotamaa, K., Fix, D., Comeras, I., et al. (2007). Comment on: screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Research, 67(19), 9603. (Pubitemid 47535953)
20. Hampel, H., Frankel, W. L., Martin, E., Arnold, M., Khanduja, K., Kuebler, P., et al. (2008). Feasibility of screening for Lynch syndrome among patients with colorectal cancer. Journal of Clinical Oncology, 26(35), 5783-5788.
21. Hitchins, M. P., & Ward, R. L. (2009). Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. Journal of Medical Genetics, 46(12), 793-802.
22. Hitchins, M. P., Rapkins, R. W., Kwok, C., Srivastava, S., Wong, J. J. L., Khachigian, L. M., et al. (2011). Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant with the 5'UTR. Cancer Cell, 20, 200-213.
23. Jass, J. R. (2006). Hereditary non-polyposis colorectal cancer: the rise and fall of a confusing term. World Journal of Gastroenterology, 12(31), 4943-4950. (Pubitemid 44323261)
24. Kuiper, R. P., Vissers, L. E. L. M., Venkatachalam, R., Bodmer, D., Hoenselaar, E., Goossens, M., et al. (2011). Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Human Mutation, 32(4), 407-414.
25. Ladabaum, U., Wang, G., Terdiman, J., Blanco, A., Kuppermann, M., Boland, C. R., et al. (2011). Strategies to identify Lynch syndrome among patients with colorectal cancer: a cost effective analysis. Annals of Internal Medicine, 155(2), 69-79.
26. Lightenberg, M. J., Kuiper, R. P., Chan, T. L., Goossens, M., Hebeda, K. M., Voorendt, M., et al. (2009). Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nature Genetics, 41, 112-117.
27. Lindor, N. M. (2009). Familial colon cancer type X: the other half of hereditary non polyposis colorectal cancer syndrome. Surgical Oncology Clinics of North America, 18, 637-645.
28. Lindor, N. M., Burgart, L. J., Leontovich, O., Goldberg, R. M., Cunningham, J. M., Sargent, D., et al. (2002). Immunohistochem-istry versus microsatellite instability testing in phenotyping colo-rectal tumors. Journal of Clinical Oncology, 20, 1043-1048. (Pubitemid 34141849)
29. Lindor, N. M., Rabe, K., Petersen, G. M., Haile, R., Casey, G., Baron, J., et al. (2005). Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. Journal of the American Medical Association, 293(16), 1979-1985. (Pubitemid 40570891)
30. Lindor, N. M., Petersen, G. M., Hadley, D. W., Kinney, A. Y., Miesfeldt, S., Lu, K. H., et al. (2006). Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. Journal of the American Medical Association, 296(12), 1507-1517. (Pubitemid 44465515)
31. Loughrey, M. B., Waring, P. M., Tan, A., Trivett, M., Kovalenko, S., Beshay, V., et al. (2007). Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer. Familial Cancer, 6(3), 301-310. (Pubitemid 47175009)
32. Modica, I., Soslow, R. A., Black, D., Tornos, C., Kauff, N., & Shia, J. (2007). Utility of immunohistochemistry in predicting microsatel-lite instability in endometrial carcinoma. American Journal of Surgical Pathology, 31, 744-751. (Pubitemid 46684215)
33. Müller, A., Giuffre, G., Edmonston, T. B., Mathiak, M., Roggendorf, B., Heinmöller, E., et al. (2004). Challenges and pitfalls in HNPCC screening by microsatellite analysis and immunohisto-chemistry. Journal of Molecular Diagnostics, 6, 308-315. (Pubitemid 39517398)
34. Mvundura, M., Grosse, S. D., Hampel, H., & Palomaki, G. E. (2010). The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genetics in Medicine, 12(2), 93-104.
35. Nakagawa, H., Lockman, J. C., Frankel, W. L., Hampel, H., Steenblock, K., Burgart, L. J., et al. (2004). Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Research, 64(14), 4721-4727. (Pubitemid 38924513)
36. Niessen, R. C., Kleibeuker, J. H., Westers, H., Jager, P. O., Rozeveld, D., Bos, K. K., et al. (2009a). PMS2 involvement in patients suspected of Lynch syndrome. Genes, Chromosomes & Cancer, 48(4), 322-329.
37. Niessen, R. C., Hofstra, R. M. W., Westers, H., Lightenberg, M. J. L., Kooi, K., Jager, P. O. J., et al. (2009b). Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome. Genes, Chromosomes & Cancer, 48, 737-744.
38. Palomaki, G. E., McClain, M. R., Melillo, S., Hampel, H., & Thibodeau, S. N. (2009). EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genetics in Medicine, 11(1), 42-65.
39. Peltomaki, P., & Vasen, H. (2004). Mutations associated with HNPCC predisposition-Update of ICG-HNPCC/INSiGHT mutation database. Disease Markers, 20(4-5), 269-276. (Pubitemid 40164099)
40. Plaschke, J., Engel, C., Kruger, S., Holinski-Feder, E., Pagenstecher, C., Mangold, E., et al. (2004). Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. Journal of Clinical Oncology, 22(22), 4486-4494. (Pubitemid 41185114)
41. Rijcken, F. E., Hollema, H., & Kleibeuker, J. H. (2002). Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformation. Gut, 50, 382-386. (Pubitemid 34161056)
42. Senter, L., Clendenning, M., Sotamaa, K., Hampel, H., Green, J., Potter, J. D., et al. (2008). The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology, 135(2), 419-428.
43. Shia, J., Tang, L. H., Vakiani, E., Guillem, J. G., Stadler, Z. K., Soslow, R. A., et al. (2009). Immunohistochemistry as first-line screening for detecting colorectal cancer patients at risk for hereditary non-polyposis colorectal cancer syndrome: a 2-antibody panel may be as predictive as a 4-antibody panel. American Journal of Surgical Pathology, 33, 1639-1645.
44. Simpkins, S. B., Bocker, T., Swisher, E. M., Mutch, D. G., Gersell, D. J., Kovatich, A. J., et al. (1999). MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers. Human Molecular Genetics, 8(4), 661-666. (Pubitemid 29139981)
45. Stoffel, E., Mukherjee, B., Raymond, V. M., Tayob, N., Kastrinos, F., Sparr, J., et al. (2009). Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroen-terology, 137(5), 1621-1627.
46. ™ Colorectal Cancer Screening Version 2.2011 (2011) National Comprehensive Cancer Network, Inc. Retrieved from http://www.nccn.org.
47. Umar, A., Boland, C. R., Terdiman, J. P., Syngal, S., de la Chapelle, A., Ruschoff, J., et al. (2004). Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. Journal of the National Cancer Institute, 96(4), 261-268. (Pubitemid 38256271)
48. Vasen, H. F., Mecklin, J. P., Khan, P. M., & Lynch, H. T. (1991). The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Diseases of the Colon & Rectum, 34(5), 424-425.
49. Vasen, H. F., Mecklin, J. P., Khan, P. M., & Lynch, H. T. (1994). The International Collaborative Group on HNPCC. Anticancer Research, 14, 1661-1664. (Pubitemid 24357002)
50. Vasen, H. F., Watson, P., Mecklin, J. P., & Lynch, H. T. (1999). New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology, 116(6), 1453-1456. (Pubitemid 29258894)
51. Vaughn, C. P., Robles, J., Swensen, J. J., Miller, C. E., Lyon, E., Mao, R., et al. (2010). Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. Human Mutation, 31, 588-593.
52. Wang, L., Cunningham, J. M., Winters, J. L., Guenther, J. C., French, A. J., Boardman, L. A., et al. (2003). BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair. Cancer Research, 63(17), 5209-5212. (Pubitemid 37139829)
53. Watson, P., Vasen, H. F., Mecklin, J. P., Bernstein, I., Aarnio, M., Järvinen, H. J., et al. (2008). The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. International Journal of Cancer, 123, 444-449. (Pubitemid 351842032)
54. Weissman, S. M., Bellcross, C., Chimera Bittner, C., Freivogel, M. E., Larsen Haidle, J., Kaurah, P., et al. (2011). Genetic counseling considerations in the evaluation of families with Lynch syndrome - a review. Journal of Genetic Counseling, 20(1), 5-19.
55. Wimmer, K., & Etzler, J. (2008). Constitutional mismatch repair deficiency syndrome: have we so far seen only the tip of the iceberg? Human Genetics, 2008(124), 105-122.
56. Zighelboim, I., Powell, M., Babb, S., Whelan, A., Schmidt, A., Clen-denning, M., et al. (2009). Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for lynch syndrome. FamCancer, 8(4), 501-504.