A population-based assessment of the clustering of breast cancer in families eligible for testing of BRCA1 and BRCA2 mutations

Annals of Oncology

Volumn 16, Issue 2, 2005, Pages 322-329

  Lorenzo Bermejo, J ^a   Hemminki, K ^a,b  

^a GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^b KAROLINSKA INSTITUTE   (Sweden)

Author keywords

BRCA1; BRCA2; Clinical criteria; Mutation testing

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; ARTICLE; BREAST CANCER; CANCER CLASSIFICATION; CANCER INCIDENCE; CANCER RISK; CLUSTER ANALYSIS; FEMALE; GENE FREQUENCY; GENE MUTATION; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; MALE; MASS SCREENING; OVARY CANCER; PREVALENCE; PRIORITY JOURNAL; STANDARDIZATION; SWEDEN;

ADULT; AGE OF ONSET; AGED; BREAST NEOPLASMS; BREAST NEOPLASMS, MALE; DATABASES, FACTUAL; DNA MUTATIONAL ANALYSIS; EPIDEMIOLOGIC STUDIES; FEMALE; GENES, BRCA1; GENES, BRCA2; HUMANS; INCIDENCE; MALE; MIDDLE AGED; OVARIAN NEOPLASMS; PEDIGREE; PREVALENCE; SWEDEN;

EID: 14644432434     PISSN: 09237534     EISSN: None     Source Type: Journal    
DOI: 10.1093/annonc/mdi041     Document Type: Article

References (27)

1. Antoniou A, Pharoah PD, Narod S et al. 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 2003; 72: 1117-1130.
2. Loman N, Bladstrom A, Johannsson O et al. Cancer incidence in relatives of a population-based set of cases of early-onset breast cancer with a known BRCA1 and BRCA2 mutation status. Breast Cancer Res 2003; 5: R175-R186.
3. Cui J, Hopper JL. Why are the majority of hereditary cases of early-onset breast cancer sporadic? A simulation study. Cancer Epidemiol Biomarkers Prev 2000; 9: 805-812.
4. Pharoah PD, Antoniou A, Bobrow M et al. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet 2002; 31: 33-36.
5. Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium. Lancet 1997; 349: 1505-1510.
6. Lakhani SR, Gusterson BA, Jacquemier J et al. The pathology of familial breast cancer: histological features of cancers in families not attributable to mutations in BRCA1 or BRCA2. Clin Cancer Res 2000; 6: 782-789.
7. Sibert A, Goldgar DE. The effect of disease penetrance, family size, and age of onset on family history with application to setting eligibility criteria for genetic testing. Fam Cancer 2003; 2: 35-42.
8. German Consortium for Hereditary Breast and Ovarian Cancer. Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. Int J Cancer 2002; 97: 472-480.
9. Verhoog LC, van den Ouweland AM, Berns E et al. Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. Eur J Cancer 2001; 37: 2082-2090.
10. National Comprehensive Cancer Network. www.nccn.com (12 October 2004, date last accessed).
11. Eerola H, Blomqvist C, Pukkala E et al. Familial breast cancer in southern Finland: how prevalent are breast cancer families and can we trust the family history reported by patients? Eur J Cancer 2000; 36: 1143-1148.
12. Hemminki K, Vaittinen P. National database of familial cancer in Sweden. Genet Epidemiol 1998; 15: 225-236.
13. Snomed International; www.snomed.com (7 October 2004, date last accessed).
14. Cancer Incidence in Sweden, 2000. Stockholm: National Board of Health and Welfare 2002; i: 118.
15. Esteve J, Benhamou E, Raymond L. Statistical methods in cancer research. Volume IV. Descriptive epidemiology. IARC Sci Publ 1994; 128: 1-302.
16. Guo SW. Inflation of sibling recurrence-risk ratio, due to ascertainment bias and/or overreporting. Am J Hum Genet 1998; 63: 252-258.
17. Olson JM, Cordell HJ. Ascertainment bias in the estimation of sibling genetic risk parameters. Genet Epidemiol 2000; 18: 217-235.
18. Parkin DM, Bray F, Ferlay J, Pisani P. Estimating the world cancer burden: Globocan 2000. Int J Cancer 2001; 94: 153-156.
19. Hakansson S, Johannsson O, Johansson U et al. Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. Am J Hum Genet 1997; 60: 1068-1078.
20. King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003; 302: 643-646.
21. Frank TS, Deffenbaugh AM, Reid JE et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10 000 individuals. J Clin Oncol 2002; 20: 1480-1490.
22. Vehmanen P, Friedman LS, Eerola H et al. Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes. Hum Mol Genet 1997; 6: 2309-2315.
23. de la Hoya M, Osorio A, Godino J et al. Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing. Int J Cancer 2002; 97: 466-471.
24. Friedman LS, Gayther SA, Kurosaki T et al. Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population. Am J Hum Genet 1997; 60: 313-319.
25. Basham VM, Lipscombe JM, Ward JM et al. BRCA1 and BRCA2 mutations in a population-based study of male breast cancer. Breast Cancer Res 2002; 4: R2.
26. Thorlacius S, Struewing JP, Hartge P et al. Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet 1998; 352: 1337-1339.
27. Loman N, Johannsson O, Bendahl PO et al. Steroid receptors in hereditary breast carcinomas associated with BRCA1 or BRCA2 mutations or unknown susceptibility genes. Cancer 1998; 83: 310-319.