메뉴 건너뛰기




Volumn 66, Issue 4, 2008, Pages 238-251

Estimating disease risk associated with mutated genes in family-based designs

Author keywords

Age at onset; Ascertainment correction; Efficient study designs; Likelihood methods; Penetrance function

Indexed keywords

ADULT; AGED; ARTICLE; CANADA; COLORECTAL CANCER; FAMILIAL CANCER; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC MODEL; GENETIC RISK; HETEROZYGOTE; HUMAN; INHERITANCE; MALE; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; POPULATION BASED CASE CONTROL STUDY; POPULATION RESEARCH; PROCESS DESIGN; SIMULATION;

EID: 53249090239     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000143406     Document Type: Article
Times cited : (15)

References (23)
  • 1
    • 0037389096 scopus 로고    scopus 로고
    • Optimal designs for estimating penetrance of rare mutations of a disease-susceptibility gene
    • Gong G, Whittemore AS: Optimal designs for estimating penetrance of rare mutations of a disease-susceptibility gene. Genet Epidemiol 2003;24:173-180.
    • (2003) Genet Epidemiol , vol.24 , pp. 173-180
    • Gong, G.1    Whittemore, A.S.2
  • 2
    • 0032924611 scopus 로고    scopus 로고
    • Designing studies to estimate the penetrance of an identified autosomal dominant mutation: Cohort, case-control, and genotyped-proband design
    • Gail MH, Benichou J, Carroll R: Designing studies to estimate the penetrance of an identified autosomal dominant mutation: cohort, case-control, and genotyped-proband design. Genet Epidemiol 1999;16:15-39.
    • (1999) Genet Epidemiol , vol.16 , pp. 15-39
    • Gail, M.H.1    Benichou, J.2    Carroll, R.3
  • 3
    • 0033912293 scopus 로고    scopus 로고
    • Bias and efficiency in family-based gene-characterization studies: Conditional, prospective, retrospective, and joint likelihoods
    • Kraft P, Thomas DC: Bias and efficiency in family-based gene-characterization studies: conditional, prospective, retrospective, and joint likelihoods. Am J Hum Genet 2000;66:1119-1131.
    • (2000) Am J Hum Genet , vol.66 , pp. 1119-1131
    • Kraft, P.1    Thomas, D.C.2
  • 4
    • 0037151382 scopus 로고    scopus 로고
    • On the use of familial aggregation in population-based case probands for calculating penetrance
    • Begg CB: On the use of familial aggregation in population-based case probands for calculating penetrance. J Nat Cancer Inst 2002;94:1221-1226.
    • (2002) J Nat Cancer Inst , vol.94 , pp. 1221-1226
    • Begg, C.B.1
  • 6
    • 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, Brugiμres L, Feunteun J, Bonaïti- Pellié C: ARCAD: a method for estimating age-dependent disease risk associated with mutation carrier status from family data. Genet Epidemiol 1995;12:13-25.
    • (1995) Genet Epidemiol , vol.12 , pp. 13-25
    • Le Bihan, C.1    Moutou, C.2    Brugiμres, L.3    Feunteun, J.4    Bonaïti- Pellié, C.5
  • 7
    • 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, Bonaïti-Pellié C: Estimating penetrance from family data using a retrospective likelihood when ascertainment depends on genotype and age of onset. Genet Epidemiol 2004;27:109-117.
    • (2004) Genet Epidemiol , vol.27 , pp. 109-117
    • Carayol, J.1    Bonaïti-Pellié, C.2
  • 8
    • 0031032930 scopus 로고    scopus 로고
    • Multi-stage sampling designs in genetic epidemiology
    • Whittemore AS, Halpern J: Multi-stage sampling designs in genetic epidemiology. Stat Med 1997;16:153-167.
    • (1997) Stat Med , vol.16 , pp. 153-167
    • Whittemore, A.S.1    Halpern, J.2
  • 10
    • 20444499053 scopus 로고    scopus 로고
    • Population-calibrated gene characterization: Estimating age at onset distributions for cancer genes
    • Iversen ES, Chen S: Population-calibrated gene characterization: estimating age at onset distributions for cancer genes. J Am Stat Assoc 2005;100:399-409.
    • (2005) J Am Stat Assoc , vol.100 , pp. 399-409
    • Iversen, E.S.1    Chen, S.2
  • 11
    • 0022959733 scopus 로고
    • A resolution of the ascertainment sampling problem. I: Theory
    • Ewens WJ, Shute NCE: A resolution of the ascertainment sampling problem. I: Theory. Theo Pop Biol 1986;30:388-412.
    • (1986) Theo Pop Biol , vol.30 , pp. 388-412
    • Ewens, W.J.1    Shute, N.C.E.2
  • 12
    • 0023788094 scopus 로고
    • Conditioning on subsets of the data: Application to ascertainment and other genetic problems
    • Hodge S: Conditioning on subsets of the data: Application to ascertainment and other genetic problems. Am J Hum Genet 1988;43:364-373.
    • (1988) Am J Hum Genet , vol.43 , pp. 364-373
    • Hodge, S.1
  • 13
    • 0036732650 scopus 로고    scopus 로고
    • Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation
    • Green J, O'Driscoll M, Barnes A, Maher ER, Bridge P, Shields K, Parfrey PS: Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation. Dis Colon Rectum 2002;45:1223-1232.
    • (2002) Dis Colon Rectum , vol.45 , pp. 1223-1232
    • Green, J.1    O'Driscoll, M.2    Barnes, A.3    Maher, E.R.4    Bridge, P.5    Shields, K.6    Parfrey, P.S.7
  • 14
    • 0024190141 scopus 로고    scopus 로고
    • Programs for pedigree analysis: MENDEL, FISHER, AND dGENE
    • Lange K, Weeks D, Boehnke M: Programs for pedigree analysis: MENDEL, FISHER, AND dGENE. Genet Epidemiol 1998;5:471-472.
    • (1998) Genet Epidemiol , vol.5 , pp. 471-472
    • Lange, K.1    Weeks, D.2    Boehnke, M.3
  • 15
    • 0033291647 scopus 로고    scopus 로고
    • Design of gene characterization studies: An overview
    • Thomas DC: Design of gene characterization studies: an overview. J Natl Cancer Inst Monogr 1999;26:17-23.
    • (1999) J Natl Cancer Inst Monogr , vol.26 , pp. 17-23
    • Thomas, D.C.1
  • 17
    • 53249156744 scopus 로고    scopus 로고
    • Chen S, Wang W, Broman K, Katki HA, Parmigiani G: BayesMendel: An R environment for Mendelian risk prediction. Johns Hopkins University Dept. of Biostatistics Working Papers 2004; Paper 39. http://www.bepress.com/jhubiostat/ paper39.
    • Chen S, Wang W, Broman K, Katki HA, Parmigiani G: BayesMendel: An R environment for Mendelian risk prediction. Johns Hopkins University Dept. of Biostatistics Working Papers 2004; Paper 39. http://www.bepress.com/jhubiostat/ paper39.
  • 18
    • 0026169420 scopus 로고
    • Piecewise Exponential Estimator of the Survivor Function
    • Kim JS, Proschan F: Piecewise Exponential Estimator of the Survivor Function. IEEE Trans Reliability 1991;40:134-139.
    • (1991) IEEE Trans Reliability , vol.40 , pp. 134-139
    • Kim, J.S.1    Proschan, F.2
  • 20
    • 0005326664 scopus 로고    scopus 로고
    • Effects of violations of assumptions on likelihood methods for estimating the penetrance of an autosomal dominant mutation from kin-cohort studies
    • Gail MH, Pee D, Carroll R: Effects of violations of assumptions on likelihood methods for estimating the penetrance of an autosomal dominant mutation from kin-cohort studies. J Stat Plan Inference 2001;96:167-177.
    • (2001) J Stat Plan Inference , vol.96 , pp. 167-177
    • Gail, M.H.1    Pee, D.2    Carroll, R.3
  • 21
    • 33645086850 scopus 로고    scopus 로고
    • Case-control and case-only designs with genotype and family history data: Estimating relative risk, residual familial aggregation, and cumulative risk
    • Chatterjee N, Kalaylioglu Z, Shih JH, Gail MH: Case-control and case-only designs with genotype and family history data: estimating relative risk, residual familial aggregation, and cumulative risk. Biometrics 2006;62:36-48.
    • (2006) Biometrics , vol.62 , pp. 36-48
    • Chatterjee, N.1    Kalaylioglu, Z.2    Shih, J.H.3    Gail, M.H.4
  • 22
    • 0034936364 scopus 로고    scopus 로고
    • Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population based study
    • Antoniou AC, Pharoah PDP, McMullen G, Day NE, Ponder BAJ, Easton DF: Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population based study. Genet Epidemiol 2001;21:1-18.
    • (2001) Genet Epidemiol , vol.21 , pp. 1-18
    • Antoniou, A.C.1    Pharoah, P.D.P.2    McMullen, G.3    Day, N.E.4    Ponder, B.A.J.5    Easton, D.F.6
  • 23
    • 27744530421 scopus 로고    scopus 로고
    • Accelerated life regression modeling of dependent bivariate time-to-event data
    • Choi YH, Matthews DE: Accelerated life regression modeling of dependent bivariate time-to-event data. Can J Stat 2005;33:449-464.
    • (2005) Can J Stat , vol.33 , pp. 449-464
    • Choi, Y.H.1    Matthews, D.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.