메뉴 건너뛰기




Volumn 33, Issue 5, 2009, Pages 379-385

PEL: An unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history

Author keywords

Ascertainment bias; Maximum likelihood method; Penetrance function; Risk estimation

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; PREALBUMIN;

EID: 70149091959     PISSN: 07410395     EISSN: 10982272     Source Type: Journal    
DOI: 10.1002/gepi.20390     Document Type: Article
Times cited : (16)

References (28)
  • 1
    • 0025675517 scopus 로고
    • A time-dependent logistic hazard function for modeling variable age of onset in analysis of familial diseases
    • Abel L, Bonney G. 1990. A time-dependent logistic hazard function for modeling variable age of onset in analysis of familial diseases. Genet Epidemiol 7:391-407.
    • (1990) Genet Epidemiol , vol.7 , pp. 391-407
    • Abel, L.1    Bonney, G.2
  • 3
    • 0038744296 scopus 로고    scopus 로고
    • Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: A combined analysis of 22 studies
    • Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, et al. 2003. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72:1117-1130.
    • (2003) Am J Hum Genet , vol.72 , pp. 1117-1130
    • Antoniou, A.1    Pharoah, P.D.2    Narod, S.3    Risch, H.A.4    Eyfjord, J.E.5    Hopper, J.L.6    Loman, N.7    Olsson, H.8    Johannsson, O.9    Borg, A.10
  • 5
    • 0017714879 scopus 로고
    • Ascertainment in the sequential sampling of pedigrees
    • Cannings C, Thompson E. 1977. Ascertainment in the sequential sampling of pedigrees. Clin Genet 12:208-212.
    • (1977) Clin Genet , vol.12 , pp. 208-212
    • Cannings, C.1    Thompson, E.2
  • 6
    • 4344673452 scopus 로고    scopus 로고
    • Estimating penetrance from family data using a retrospective likelihood when ascertainment depends on genotype and age of onset
    • Carayol J, Bonaiti-Pellie C. 2004. Estimating penetrance from family data using a retrospective likelihood when ascertainment depends on genotype and age of onset. Genet Epidemiol 27:109-117.
    • (2004) Genet Epidemiol , vol.27 , pp. 109-117
    • Carayol, J.1    Bonaiti-Pellie, C.2
  • 7
    • 0036096514 scopus 로고    scopus 로고
    • Hereditary nonpolyposis colorectal cancer: Current risks of colorectal cancer largely overestimated
    • Carayol J, Khlat M, Maccario J, Bonaiti-Pellie C. 2002. Hereditary nonpolyposis colorectal cancer: current risks of colorectal cancer largely overestimated. J Med Genet 39:335-339.
    • (2002) J Med Genet , vol.39 , pp. 335-339
    • Carayol, J.1    Khlat, M.2    Maccario, J.3    Bonaiti-Pellie, C.4
  • 9
    • 0004599465 scopus 로고
    • Problems of ascertainment in the analysis of family data
    • Neel JV, Shaw MW, Schull WJ, editors, Washington DC: Public Health Source Publication
    • Crow J. 1965. Problems of ascertainment in the analysis of family data. In: Neel JV, Shaw MW, Schull WJ, editors. Genetics and the Epidemiology of Chronic Disease. Washington DC: Public Health Source Publication.
    • (1965) Genetics and the Epidemiology of Chronic Disease
    • Crow, J.1
  • 11
    • 0028843102 scopus 로고
    • Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium
    • Easton DF, Ford D, Bishop DT. 1995. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 56:265-271.
    • (1995) Am J Hum Genet , vol.56 , pp. 265-271
    • Easton, D.F.1    Ford, D.2    Bishop, D.T.3
  • 13
    • 0015183542 scopus 로고
    • A general model for the genetic analysis of pedigree data
    • Elston RC, Stewart J. 1971. A general model for the genetic analysis of pedigree data. Hum Hered 21:523-542.
    • (1971) Hum Hered , vol.21 , pp. 523-542
    • Elston, R.C.1    Stewart, J.2
  • 14
    • 0002563227 scopus 로고
    • The effects of methods ascertainment upon the estimation of frequencies
    • Fisher R. 1934. The effects of methods ascertainment upon the estimation of frequencies. Ann Eugen 6:13-25.
    • (1934) Ann Eugen , vol.6 , pp. 13-25
    • Fisher, R.1
  • 16
    • 0032924611 scopus 로고    scopus 로고
    • Designing studies to estimate the penetrance of an identified autosomal dominant mutation: Cohort, case-control, and genotyped-proband designs
    • Gail MH, Pee D, Benichou J, Carroll R. 1999. Designing studies to estimate the penetrance of an identified autosomal dominant mutation: cohort, case-control, and genotyped-proband designs. Genet Epidemiol 16:15-39.
    • (1999) Genet Epidemiol , vol.16 , pp. 15-39
    • Gail, M.H.1    Pee, D.2    Benichou, J.3    Carroll, R.4
  • 17
    • 0037389096 scopus 로고    scopus 로고
    • Optimal designs for estimating penetrance of rare mutations of a disease-susceptibility gene
    • Gong G, Whittemore AS. 2003. Optimal designs for estimating penetrance of rare mutations of a disease-susceptibility gene. Genet Epidemiol 24:173-180.
    • (2003) Genet Epidemiol , vol.24 , pp. 173-180
    • Gong, G.1    Whittemore, A.S.2
  • 18
    • 0033912293 scopus 로고    scopus 로고
    • Bias and efficiency in family-based gene-characterization studies: Conditional, prospective, retrospective, and joint likelihoods
    • Kraft P, Thomas DC. 2000. Bias and efficiency in family-based gene-characterization studies: conditional, prospective, retrospective, and joint likelihoods. Am J Hum Genet 66:1119-1131.
    • (2000) Am J Hum Genet , vol.66 , pp. 1119-1131
    • Kraft, P.1    Thomas, D.C.2
  • 19
    • 0003956793 scopus 로고
    • GEMINI: A computer program for optimization of general non linear function
    • Technical report no 14. Salt Lake City: University of Utah, Department of Medical Biophysics and Computing
    • Lalouel J. 1979. GEMINI: a computer program for optimization of general non linear function. Technical report no 14. Salt Lake City: University of Utah, Department of Medical Biophysics and Computing.
    • (1979)
    • Lalouel, J.1
  • 20
    • 0028896366 scopus 로고
    • ARCAD: A method for estimating age-dependent disease risk associated with mutation carrier status from family data
    • Le Bihan C, Moutou C, Brugieres L, Feunteun J, Bonaiti-Pellie C. 1995. ARCAD: a method for estimating age-dependent disease risk associated with mutation carrier status from family data. Genet Epidemiol 12:13-25.
    • (1995) Genet Epidemiol , vol.12 , pp. 13-25
    • Le Bihan, C.1    Moutou, C.2    Brugieres, L.3    Feunteun, J.4    Bonaiti-Pellie, C.5
  • 21
    • 17644419198 scopus 로고
    • Genetic tests under incomplete ascertainment
    • Morton NE. 1959. Genetic tests under incomplete ascertainment. Am J Hum Genet 11:1-16.
    • (1959) Am J Hum Genet , vol.11 , pp. 1-16
    • Morton, N.E.1
  • 22
    • 0029800046 scopus 로고    scopus 로고
    • La place des familles à quatre générations en France.
    • Pennec S. 1996. La place des familles à quatre générations en France. Population 1:31-60.
    • (1996) Population , vol.1 , pp. 31-60
    • Pennec, S.1
  • 25
    • 0028873796 scopus 로고
    • Inherent intractability of the ascertainment problem for pedigree data: A general likelihood framework
    • Vieland VJ, Hodge SE. 1995. Inherent intractability of the ascertainment problem for pedigree data: a general likelihood framework. Am J Hum Genet 56:33-43.
    • (1995) Am J Hum Genet , vol.56 , pp. 33-43
    • Vieland, V.J.1    Hodge, S.E.2
  • 28
    • 0001600959 scopus 로고
    • Method und Fehlerquellen der Untersuchung auf Mendleschen Zahlen Beim Menschen
    • Weinberg W. 1912. Method und Fehlerquellen der Untersuchung auf Mendleschen Zahlen Beim Menschen. Arch Rass u Ges Biol 9:165-174.
    • (1912) Arch Rass u Ges Biol , vol.9 , pp. 165-174
    • Weinberg, W.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.