Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer

New England Journal of Medicine

Volumn 334, Issue 3, 1996, Pages 143-149

  Fitzgerald, Michael G ^a   Macdonald, Deborah J ^a   Krainer, Michael ^a   Hoover, Ingrid ^a   O'Neil, Erin ^a   Unsal, Hilal ^a   Silva Arrieto, Sandra ^a   Finkelstein, Dianne M ^b,c   Beer Romero, Peggy ^a   Englert, Christoph ^a   Sgroi, Dennis C ^b   Smith, Barbara L ^b   Younger, Jerry W ^b   Garber, Judy E ^d   Duda, Rosemary B ^e   Mayzel, Kathleen A ^f   Isselbacher, Kurt J ^a   Friend, Stephen H ^a   Haber, Daniel A ^a,b  

^a MASSACHUSETTS GENERAL HOSPITAL CANCER CENTER   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^d DANA FARBER CANCER INSTITUTE   (United States)

^e BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^f Brigham and Women's/Faulkner Hospitals   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BREAST CANCER; BREAST CARCINOGENESIS; CANCER RISK; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC SUSCEPTIBILITY; GERM LINE; HUMAN; JEW; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; BASE SEQUENCE; BRCA1 PROTEIN; BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GERM-LINE MUTATION; HUMANS; JEWS; MOLECULAR SEQUENCE DATA; NEOPLASM PROTEINS; PREVALENCE; RETROSPECTIVE STUDIES; TRANSCRIPTION FACTORS;

EID: 13344260688     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199601183340302     Document Type: Article

References (24)

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. Hall JM, Lee MK, Newman B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21 Science 1990;250:1684-9
3. Futreal PA, Liu Q, Shattuck-Eidens D, et al. BRCA1 mutations in primary breast and ovarian carcinomas Science 1994;266:120-2.
4. Castilla LH, Couch FJ, Erdos MR, et al. Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer Nat Genet 1994;8:387-91
5. Simard J, Tonin P, Durocher F, et al Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families Nat Genet 1994;8:392-8.
6. Friedman LS, Ostermeyer EA, Szabo CI, et al. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat Genet 1994;8:399-404.
7. Shattuck-Eidens D, McClure M, Simard J, et al. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: implications for presymptomatic testing and screening. JAMA 1995;273: 535-41
8. Easton DF, Bishop DT, Ford D, Crockford GP, Breast Cancer Linkage Consortium Genetic linkage analysis in familial breast and ovarian cancer, results from 214 families. Am J Hum Genet 1993;52:678-701.
9. Rowell S, Newman B, Boyd J, King MC. Inherited predisposition to breast and ovarian cancer. Am J Hum Genet 1994;55:861-5.
10. Colditz GA, Willett WC, Hunter DJ, et al Family history, age, and risk of breast cancer: prospective data from the Nurses' Health Study. JAMA 1993; 270:338-43 [Erratum, JAMA 1993;270:1548]
11. Slattery ML, Kerber RA. A comprehensive evaluation of family history and breast cancer risk: the Utah Population Database JAMA 1993;270 1563-8
12. Harris JR, Lippman ME, Veronesi U, Willett W. Breast cancer. N Engl J Med 1992;327:319-28, 390-8, 473-80.
13. Knudson AG Jr. Mutation and cancer, a statistical study of retinoblastoma. Proc Natl Acad Sci U S A 1971;68:820-3
14. Haber DA, Housman DE Rate-limiting steps: the genetics of pediatric cancers. Cell 1991;64:5-8.
15. Cannon-Albright LA, Skolnick MH, Bishop DT, Lee RG, Burt RW. Common inheritance of susceptibility to colonie adenomatous polyps and associated colorectal cancers. N Engl J Med 1988;319:533-7.
16. Powell SM, Petersen GM, Krush AJ, et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993;329:1982-7.
17. Ries LAG, Miller BA, Hankey BR, Kosary CL, Harras A, Edwards BK, eds. SEER cancer statistics review, 1973-1991: tables and graphs. Bethesda, Md.: National Cancer Institute, 1994. (NIH publication no. 94-2789.)
18. Claus EB, Risch N, Thompson WD. Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 1991;48:232-42.
19. Struewing JP, Abeliovich D, Peretz T, et al. The earner frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 1995;11 198-200
20. van der Luijt R, Khan PM, Vasen H, et al. Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics 1994;20:1-4
21. Hogervorst FBL, Cornelis RS, Bout M, et al. Rapid detection of BRCA1 mutations by the protein truncation test Nat Genet 1995;10 208-12.
22. Fleiss JL. Statistical methods for races and proportions. 2nd ed. New York John Wiley, 1981.
23. Struewing JP, Brody LC, Erdos MR, et al. Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am J Hum Genet 1995;57:1-7.
24. Goldgar DE, Reilly PR. A common BRCA1 mutation in the Ashkenazim. Nat Genet 1995;11:113-4.