A review of statistical methods for testing genetic anticipation: Looking for an answer in Lynch syndrome

Genetic Epidemiology

Volumn 34, Issue 7, 2010, Pages 756-768

  Boonstra, Philip S ^a   Gruber, Stephen B ^a,b   Raymond, Victoria M ^b   Huang, Shu Chen ^b   Timshel, Susanne ^c   Nilbert, Mef ^d   Mukherjee, Bhramar ^a  

^a UNIVERSITY OF MICHIGAN   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c HVIDOVRE HOSPITAL   (Denmark)

^d Mental Health Center Glostrup   (Denmark)

Author keywords

Cox proportional hazards model; Hereditary nonpolyposis colorectal cancer; Mismatch repair genes; Multiplex ascertainment; Random effects; Sandwich estimator

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ADULT; AGED; ARTICLE; CANCER GENETICS; CANCER REGISTRY; CHILD PARENT RELATION; CONTROLLED STUDY; ERROR; FEMALE; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HEREDITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MAXIMUM LIKELIHOOD METHOD; MISMATCH REPAIR; PROPORTIONAL HAZARDS MODEL; REGRESSION ANALYSIS; SIMULATION; STATISTICAL ANALYSIS; STUDENT T TEST;

ANTICIPATION, GENETIC; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; COMPUTER SIMULATION; DATABASES, GENETIC; DNA MISMATCH REPAIR; FEMALE; HUMANS; MALE; MODELS, GENETIC; MODELS, STATISTICAL; MOLECULAR EPIDEMIOLOGY; MUTATION; PEDIGREE; PROPORTIONAL HAZARDS MODELS; REGRESSION ANALYSIS;

EID: 77958594839     PISSN: 07410395     EISSN: 10982272     Source Type: Journal    
DOI: 10.1002/gepi.20534     Document Type: Article

References (27)

1. Daugherty SE, Pfeiffer RM, Mellemkjaer L, Hemminki K, Goldin LR. 2005. No evidence for anticipation in lymphoproliferative tumors in population-based samples. Cancer Epidemiol Biomark Prevention 140.
2. DerSimonian R, Laird N. 1986. Meta-analysis in clinical trials. Control Clin Trials 7:177-188.
3. Fraser FC. 1997. Trinucleotide repeats not the only cause of anticipation. Lancet 3500:459-460.
4. Heiman GA, Hodge SE, Wickramaratne P, Hsu H. 1996. Age-at-interview bias in anticipation studies: computer simulations and an example with panic disorder. Psychiatric Genet 6:61-66.
5. Hodge SE, Vieland VJ. 1996. The essence of single ascertainment. Genetics 144:1215-1223.
6. Hsu L, Zhao LP, Malone KE, Daling JR. 2000. Assessing changes in ages at onset over successive generation: an application to breast cancer. Genet Epidemiol 18:17-32.
7. Huang J, Vieland V. 1997. A new statistical test for age-of-onset anticipation: application to bipolar disorder. Genet Epidemiol 14:1091-1096.
8. Kalbfleisch JD, Prentice RL. 2002. The Statistical Analysis of Failure Time Data, 2nd edition. New York: Wiley.
9. La Spada AR. 1997. Trinucleotide repeat instability: genetic features and molecular mechanisms. Brain Pathol 7:943-963.
10. Larsen K, Petersen J, Bernstein I, Nilbert M. 2009. A parametric model for analyzing anticipation in genetically predisposed families. Stat Appl Genet Mol Biol 80:Article 26.
11. Menko FH, Te Meerman GJ, Sampson JR. 1993. Variable age of onset in hereditary nonpolyposis colorectal cancer: clinical implications. Gastroenterology 104:946-947.
12. Mirea L, Sun L, Stafford JE, Bull SB. 2010. Using evidence for population stratification bias in combined individual- and family-level genetic association analyses of quantitative traits. Genet Epidemiol 34:502-511.
13. Nilbert M, Timshel S, Bernstein I, Larsen K. 2009. Role for genetic anticipation in Lynch Syndrome. J Clin Oncol 270:360-364.
14. Picco MF, Goodman S, Reed J, Bayless TM. 2001. Methodologic pitfalls in the determination of genetic anticipation: the case of Crohn disease. Ann Intern Med 134:1124-1139.
15. Rabinowitz D, Yang Q. 1999. Testing for age-at-onset anticipation with affected parent-child pairs. Biometrics 550:834-838.
16. Rodríguez-Bigas MA, Lee PHU, O'Malley L, Weber TK, Suh O, Anderson GR, Petrelli NJ. 1996. Establishment of a hereditary nonpolyposis colorectal cancer registry. Dis Colon Rectum 39:649-653.
17. Stella A, Surdo NC, Lastella P, Barana D, Oliani C, Tibiletti MG, Viel A, Natale C, Piepoli A, Marra G, Guanti G. 2007. Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC. Clin Genet 710:130-139.
18. Tabori U, Nanda S, Druker H, Lees J, Malkin D. 2007. Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome. Cancer Res 670:1415-1418.
19. Tsai Y, Petersen GM, Booker SV, Bacon JA, Hamilton SR, Giardiello FM. 1997. Evidence against genetic anticipation in familial colorectal cancer. Genet Epidemiol 140:435-446.
20. Tsai WY, Heiman GA, Hodge SE. 2005. New simple tests for age-at-onset anticipation: application to panic disorder. Genet Epidemiol 280:256-260.
21. Vasen HFA, Mecklin J-P. 1991. Hereditary nonpolyposis colorectal cancer. Lancet 3380:877.
22. Vasen HFA, Taal BG, Griffioen G, Nagengast FM, Cats A, Menko FH, Oskam W, Kleibeuker JH, Offerhaus GJA, Meera Khan P. 1994. Clinical heterogeneity of familial colorectal cancer and its influence on screening protocols. Gut 35:1262-1266.
23. Vasen HFA, Watson P, Mecklin JP, Lynch HT. 1999. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology 116:1453-1456.
24. Vieland V, Huang J. 1998. Statistical evaluation of age-at-onset anticipation: a new test and evaluation of its behavior in realistic applications. Am J Hum Genet 62:1212-1227.
25. Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I. 2004. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 36:447-449.
26. Warthin AS. 1913. Heredity with reference to carcinoma as shown by the study of the cases examined in the pathological laboratory of the University of Michigan, 1895-1913. Arch Intern Med 12:546-555.
27. Westphalen AA, Russel AM, Buser M, Berthod CR, Hutter P, Plasilova M, Mueller H, Heinimann K. 2005. Evidence for genetic anticipation in hereditary nonpolyposis colorectal cancer. Hum Genet 116:461-465.