Missense mutations in disease genes: A Bayesian approach to evaluate causality

American Journal of Human Genetics

Volumn 62, Issue 6, 1998, Pages 1516-1524

  Petersen, Gloria M ^a,d   Parmigiani, Giovanni ^b   Thomas, Duncan ^c  

^a JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^b DUKE UNIVERSITY   (United States)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BAYES THEOREM; BREAST CANCER; CARCINOGENESIS; COLORECTAL CANCER; DISEASE PREDISPOSITION; HUMAN; MISSENSE MUTATION; ONCOGENE; PHENOTYPE; POINT MUTATION; POPULATION GENETICS; PRIORITY JOURNAL;

EID: 0031802158     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301871     Document Type: Article

References (21)

1. Aragaki C, Greenland S, Probst-Hensch N, Haile RW (1997) Hierarchical modeling of gene-environment interactions: estimating NAT2* genotype-specific dietary effects on adenomatous polyps. Cancer Epidemiol Biomarkers Prev 6: 307-314
2. Athma P, Rappaport R, Swift M (1996) Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet 92:130-134
3. Barker DF, Almeida ERA, Casey G, Fain PR, Liao SY, Masunaka I, Noble B, et al (1996) BRCA1 R841W: a strong candidate for a common mutation with moderate phenotype. Genet Epidemiol 13:595-604
4. Berger JO, Delampady M (1987) Testing precise hypotheses. Stat Sci 2:317-335
5. Cooper DN, Krawczak M (1993) Human gene mutation. BIOS Scientific Publishers, Oxford
6. Cotton RGH (1997) Mutation detection. Oxford University Press, New York
7. Elandt-Johnson RC (1971) Probability models and statistical methods in genetics. Wiley & Sons, New York
8. Ellsworth DL, Hallman DM, Boerwinkle G (1997) Impact of the Human Genome Project on epidemiologic research. Epidemiol Rev 19:3-13
9. Fearon ER (1997) Human cancer syndromes: clues to the origin and nature of cancer. Science 278:1043-1050
10. Ford D, Easton DF (1995) The genetics of breast and ovarian cancer. Br J Cancer 72:805-812
11. Geller G, Botkin JR, Green MJ, Press N, Biesecker BB, Wilfond B, Grana G, et al (1997) Genetic testing for susceptibility to adult-onset cancer: the process and content of informed consent. JAMA 277:1467-1474
12. Greenland S (1993) Methods for epidemiologic analysis of multiple exposures: a review and comparative study of maximum-likelihood, preliminary-testing, and empirical-Bayes regression. Stat Med 12:717-736
13. Guyer MS, Collins FS (1995) How is the Human Genome Project doing, and what have we learned so far? Proc Natl Acad Sci USA 92:10841-10848
14. Holtzman NA, Murphy PD, Watson MS, Barr PA (1997) Predictive genetic testing: from basic research to clinical practice. Science 278:602-605
15. Hubbard R, Lewontin RC (1996) Pitfalls of genetic testing. New Engl J Med 334:1192-1194
16. Kass RE, Raftery AE (1995) Bayes factors. J Am Stat Assoc 90:773-795
17. Laken SJ, Petersen GM, Gruber SB, Oddoux C, Ostrer H, Giardiello FM, Hamilton SR, et al (1997) Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 17:79-83
18. Li CC, Sacks L (1954) The derivation of joint distribution and correlation between relatives by the use of stochastic matrices. Biometrics 10:347-360
19. Savill J (1997) Molecular genetic approaches to understanding disease. BMJ 314:126-129
20. Schuler GD, Boguski MS, Stewart EA, Stein LD, Gyapay G, Rice K, White RE, et al (1996) A gene map of the human genome. Science 274:540-546
21. Swift M, Kupper LL, Chase CL (1990) Effective testing of genedisease associations. Am J Hum Genet 47:266-274