Role for genetic anticipation in lynch syndrome

Journal of Clinical Oncology

Volumn 27, Issue 3, 2009, Pages 360-364

  Nilbert, Mef ^a   Timshel, Susanne ^a   Bernstein, Inge ^a   Larsen, Klaus ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

MISMATCH REPAIR PROTEIN;

ADULT; ARTICLE; CHILD; COLORECTAL CANCER; CONTROLLED STUDY; EARLY DIAGNOSIS; FAMILIAL CANCER; FOLLOW UP; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; MAJOR CLINICAL STUDY; ONSET AGE; PRIORITY JOURNAL;

ADULT; ANTICIPATION, GENETIC; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED;

EID: 58749091265     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.2008.16.1281     Document Type: Article

References (32)

1. Mott FW: A lecture on heredity and insanity. Lancet 1:1251-1259, 191 1
2. Hunter AG, Jacob P, O'Hoy K, et al: Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: Implications for genetic counseling and genetic anticipation. Am J Med Genet 45:401-407, 1993
3. Warren ST, Ashley CT: Triplet repeat expansion mutations: The example of fragile X syndrome. Annu Rev Neurosci 18:77-99, 1995
4. Ranen NG, Stine OC, Abbott HM, et al: Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington's disease. Am J Hum Genet 57:593-602, 1995
5. Jacobsen O: Heredity in Breast Cancer. Op Dom Biol Hered Hum (k6h) 11:1-306, 1947
6. Dagan E, Gershoni-Baruch R: Anticipation in hereditary breast cancer. Clin Genet 62:147-150, 2002
7. Goldstein AM, Clark WH Jr, Fraser MC, et al: Apparent anticipation in familial melanoma. Melanoma Res 6:441-446, 1996
8. Horowitz M, Goode EL, Jarvik GP: Anticipation in familial leukemia. Am J Hum Genet 59:990-998, 1996
9. Goldberg JM, Piver MS, Jishi MF, et al: Age at onset of ovarian cancer in women with a strong family history of ovarian cancer. Gynecol Oncol 66:3-9, 1997
10. Hsu L, Zhao LP, Malone KE, et al: Assessing changes in ages at onset over successive generations: An application to breast cancer. Genet Epidemiol 18:17-32, 2000
11. Wiernik PH, Wang SQ, Hu XP, et al: Age of onset evidence for anticipation in familial non-Hodgkin's lymphoma. Br J Hematol 108:72-79, 2000
12. Shugart YY, Hemminkii K, Vaittinen P, et al: Apparent anticipation and heterogenous transmission patterns in familial Hodgkin's lymphoma and non-Hodgkin's lymphoma: Report from a study based on the Swedish cancer database. Leuk Lym-phoma 42:407-415, 2001
13. McFaul CD, Greenhalf W, Howes N, et al: Anticipation in familial pancreatic cancer. Gut 55: 252-258, 2006
14. Peixoto A, Salgueiro N, Santos C, et al: BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families. Fam Cancer 5:2379-2387, 2006
15. Vasen HF, Watson P, Mecklin JP, et al: New clinical criteria for hereditary nonpolyposis colo-rectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116:1453-1456, 1999
16. Aarnio M, Sankila R, Pukkala E, et al: Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81:214-218, 1999
17. Vasen HF, Taal BG, Griffionen G, et al: Clinical heterogeneity of familial colorectal cancer and its influence on screening protocols. Gut 35:1262-1266, 1994
18. Menko FH, Te Meerman GJ, Sampson JR: Variable age of onset in hereditary nonpolyposis colorectal cancer: Clinical implications. Gastroenter-ology 104:946-947, 1993
19. Tsai YY, Petersen GM, Booker SV, et al: Evidence against genetic anticipation in familial colorectal cancer. Genet Epidemiol 14:435-446, 1997
20. Westphalen AA, Russell AM, Buser M, et al: Evidence for genetic anticipation in hereditary non-polyposis colorectal cancer. Hum Genet 116:461-465, 2005
21. Stella A, Surdo NC, Lastella P, et al: Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC. Clin Genet 71:130-139, 2007
22. Picco MF, Goodman S, Reed J, et al: Methodological pitfalls in the determination of genetic anticipation: The case of Crohn disease. Ann Intern Med 134:1 124-1 129, 2001
23. Huang J, Vieland V: A new statistical test for age-of-onset anticipation: Application to bipolar disorder. Genet Epidemiol 14:1091-1096, 1997
24. Jarvinen HJ, Aarnio M, Mustonen H, et al: Controlled 15-year trial on screening for colorectal cancerinfamilieswithhereditarynonpolyposiscolorectal cancer. Gastroenterology 118:829-834, 2000
25. Renkonen-Sinisalo L, Butzow R, Leminen A, et al: Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome. Int J Cancer 120:821-824, 2007
26. Lindor NM, Petersen GM, Hadley DW, et al: Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: A systematic review. JAMA 296:1507-1517, 2006
27. Schmeler KM, Lynch HT, Chen LM, et al: Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 354:261-269, 2006
28. Warthin AS: The further study of a cancer family. J Cancer Res 9:279-286, 1925
29. Nilbert M, Wikman FP, Hansen TVO, et al: Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch Syndrome cohort. Fam Cancer [e-pub] 2008.
30. Wu X, Amos CI, Zhu Y, et al: Telomere dysfunction: A potential cancer predisposition factor. J Natl Cancer Inst 95:121 1-1218, 2003
31. Tabori U, Nanda S, Druker H, et al: Younger age of cancer initiation is associated with shorter telemere length in Li-Fraumeni syndrome. Cancer Res 67:1415-1418, 2007
32. Trkova M, Prochazkova K, Krutilkova V, et al: Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age. Cancer 110:694-702, 2007