The effect of disease penetrance, family size, and age of onset on family history with application to setting eligibility criteria for genetic testing

Familial Cancer

Volumn 2, Issue 1, 2003, Pages 35-42

  Sibert, Alexandre ^a,b   Goldgar, David E ^a  

^a INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

^b MUSÉE DE L HOMME   (France)

Author keywords

Family history; Genetic testing; Mutation; Penetrance; Sensitivity

Indexed keywords

AGE DISTRIBUTION; ANALYSIS OF VARIANCE; ARTICLE; DISEASE TRANSMISSION; FAMILY HISTORY; FAMILY SIZE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROGENY; RELATIVE; SEX RATIO; SIMULATION;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHILD; CHILD, PRESCHOOL; FAMILY CHARACTERISTICS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEDICAL HISTORY TAKING; MIDDLE AGED; MODELS, THEORETICAL; PEDIGREE; RISK ASSESSMENT;

EID: 0038637839     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1023208707085     Document Type: Article

References (23)

1. Andrieu N, Prevost T, Rohan TE et al. Variation in the interaction between familial and reproductive factors on the risk of breast cancer according to age, menopausal status, and degree of familiality. Int J Epidemiol 2000; 29: 214-23.
2. Collaborative Group on Hormonal Factors in Breast Cancer. Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet 2001; 358: 1289-399.
3. Li R, Bensen JT, Hutchinson RG et al. Family risk score of coronary heart disease (CHD) as a predictor of CHD: the atherosclerosis risk in communities (ARIC) and the NHLBI family heart study. Genet Epidemiol 2000; 18: 236-50.
4. Goldgar DE, Easton DF, Cannon-Albright LA et al. A systematic population-based assessment of cancer risk in first degree relative of cancer probands. J Natl Cancer Inst 1994; 86: 1600-8.
5. Malone KE, Daling JR, Thompson JD et al. BRCA1 mutations and breast cancer in the general population - analyses in women before age 35 years and in women before age 45 years with first-degree family history. JAMA 1998; 279(12): 922-9.
6. Warner E, Foulkes W, Goodwin P et al. Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl Cancer Inst 1999; 91: 1241-7.
7. Hopper JL, MCCredie MRE, Giles GG et al. The Australian breast cancer family study: putting breast cancer genes into perspective. Am J Hum Genet 1997; 61(4): A14-67.
8. Hartge P, Struewing JP, Wacholder S et al. The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. Am J Hum Genet 1999; 64: 963-70.
9. Hopper JL, Jenkins MA. Modeling the probability that Ashkenazi Jewish women carry a founder mutation in BRCA1 or BRCA2. Am J Hum Genet 1999; 65: 1771-6 (Letter to the editor).
10. Foulkes WD, Brunet JS, Warner E et al. The importance of a family history of breast cancer in predicting the presence of a BRCA mutation. Am J Hum Genet 1999; 65: 1776-9 (Letter to the editor).
11. Hodgson SV, Heap E, Cameron J et al. Risk factors for detecting germline BRCA1 and BRCA2 founder mutations in Ashkenazi Jewish women with breast or ovarian cancer. J Med Genet 1999; 36: 369-73.
12. Wacholder S and Hartge P. Response to the letters from Hopper et al. and Foulkes et al. Am J Hum Genet 1999; 65: 1775-6 (Letter to the editor).
13. Cui J, Hopper J. Why are the majority of hereditary cases of early-onset breast cancer sporadic? A simulation study. Cancer Epidemiol Biomarkers Prev 2000; 9: 805-812.
14. Hasstedt SJ, Cartwright PE. Pedigree Analysis Package, Rev 3.0, Salt Lake City: University of Utah, 1989.
15. S.A.G.E. Statistical Analysis for Genetic Epidemiology, Release 3.0. Computer program package available from the Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, 1997.
16. Lange K, Weeks D, Boehnke M. Programs for pedigree analysis: MENDEL, FISHER, and dGENE. Genet Epidemiol 1988; 5: 471-2.
17. Shattuck-Eidens D, Oliphant A, McClure M et al. BRCA1 sequence analysis in women at high risk for susceptibility mutations: risk factor analysis and implications for genetic testing. JAMA 1997; 278: 1242-50.
18. Parmigiani G, Berry D, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 1998; 62: 145-58.
19. Grann V, Jacobson J. Population screening for cancer-related germline gene mutations. Lancet Oncol 2002; 3: 341-8.
20. Farrington SM, Lin-Goerke J, Ling J et al. Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. Am J Hum Genet 1998; 63: 749-59.
21. Finckh U, Müller-Thomsen T, Mann U et al. High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. Am J Hum Genet 2000; 66: 110-7.
22. Hopper JL, Southey MC, Dite GS, Australian Breast Cancer Family Study. Population-based estimate of the average agespecific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Cancer Epidemiol Biomarkers Prev 1999; 8: 741-7.
23. Peto J, Collins N, Barfoot R et al. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 1999; 91: 943-9.