Similar contributions of BRCA1 and BRCA2 germline mutations to early-onset breast cancer in Germany

European Journal of Human Genetics

Volumn 11, Issue 6, 2003, Pages 464-467

  Hamann, Ute ^a   Liu, Xuan ^a,d   Bungardt, Nikola ^a,e   Ulrich Ulmer, Hans ^b   Bastert, Gunther ^c   Sinn, Hans Peter ^c  

^a GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^b STÄDTISCHES KLINIKUM KARLSRUHE   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d Hosp of the Univ for Chinese Med   (China)

^e JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

BRCA1 2; Early onset breast cancer; German population; Germline mutations

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; DNA;

ADULT; ARTICLE; BLOOD SAMPLING; BREAST CANCER; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA SEQUENCE; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; GERM LINE; GERMANY; HEALTH CARE SYSTEM; HIGH RISK POPULATION; HUMAN; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; ONSET AGE; PATIENT INFORMATION; PATIENT SELECTION; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; PROTEIN DETERMINATION; SEQUENCE ANALYSIS; SIGNAL DETECTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENES, BRCA1; GENES, BRCA2; GENETIC SCREENING; GERM-LINE MUTATION; GERMANY; HUMANS; MUTATION, MISSENSE;

EID: 0037701982     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200988     Document Type: Article

References (23)

1. Miki Y, Swensen J, Shattuck-Eidens D et al: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994; 266: 66-71.
2. Wooster R, Bignell G, Lancaster J et al: Identification of the breast cancer susceptibility gene BRCA2 [published erratum appears in Nature 1996; 379: 749]. Nature 1995; 378: 789-792.
3. Tavtigian SV, Simard J, Rommens J et al: The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds [see comments]. Nat Genet 1996; 12: 333-337.
4. Ford D, Easton DF, Stratton M et al: Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 1998; 62: 676-689.
5. The Breast Cancer Linkage Consortium: Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 1999; 91: 1310-1316.
6. Jandrig B, Grade K, Seitz S et al: BRCA1 mutations in German breast-cancer families. Int J Cancer 1996; 68: 188-192.
7. Hamann U, Branch H, Garvin AM, Bastert G, Scott RJ: German family study on hereditary breast and/or ovarian cancer: germline mutation analysis of the BRCA1 gene. Genes Chrom Cancer 1997; 18: 126-132.
8. Hamann U, Haner M, Stosiek U, Bastert G, Scott RJ: Low frequency of BRCA1 germline mutations in 45 German breast/ ovarian cancer families. J Med Genet 1997; 34: 884-888.
9. Hamann U, Liu X, Lange S, Ulmer HU, Benner A, Scott RJ: Contribution of BRCA2 germline mutations to hereditary breast/ ovarian cancer in Germany. J Med Genet 2002; 39: e12.
10. Meindl A: 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.
11. Plaschke J, Commer T, Jacobi C, Schackert HK, Chang-Claude J: BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease. J Med Genet 2000; 37: e17.
12. The BRCA1 Exon 13 Duplication Screening Group: The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. Am J Hum Genet 2000; 67: 207-212.
13. Breast Cancer Information Core (BIC) database [http://www.nhgri.nih.gov/lntramural_research/Lab_transfer/Bic/]. 2002.
14. Chen KS, Shepel LA, Haag JD, Heil GM, Gould MN: Cloning, genetic mapping and expression studies of the rat Brca1 gene. Carcinogenesis 1996; 17: 1561-1566.
15. Szabo CI, Wagner LA, Francisco LV et al: Human, canine and murine BRCA1 genes: sequence comparison among species. Hum Mol Genet 1996; 5: 1289-1298.
16. 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: 943-949.
17. Anglian Breast Cancer Study Group: Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br. J. Cancer 2000; 83: 1301-1308.
18. Southey MC, Tesoriero AA, Andersen CR et al: BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer. Br J Cancer 1999; 79: 34-39.
19. Krainer M, Silva-Arrieta S, FitzGerald MG et al: Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer. N Engl J Med 1997; 336: 1416-1421.
20. Loman N, Johannsson O, Kristoffersson U, Olsson H, Borg A: Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. J Natl Cancer Inst 2001; 93: 1215-1223.
21. Langston AA, Malone KE, Thompson JD, Daling JR, Ostrander EA: BRCA1 mutations in a population-based sample of young women with breast cancer. N Engl J Med 1996; 334: 137-142.
22. Malone KE, Daling JR, Thompson JD, O'Brien CA, Francisco LV, Ostrander EA: 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: 922-929.
23. Malone KE, Daling JR, et al: Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. Cancer 2000; 88: 1393-1402.