Convenient, nonradioactive, heteroduplex-based methods for identifying recurrent mutations in the BRCA1 and BRCA2 genes

Diagnostic Molecular Pathology

Volumn 6, Issue 4, 1997, Pages 229-237

  Mansukhani, Mahesh M ^a   Nastiuk, Kent L ^a   Hibshoosh, Hanina ^a   Kularatne, Piyumika ^a   Russo, Donna ^a   Krolewski, John J ^a  

^a College of Physicians and Surgeons ^*  (United States)

Author keywords

BRCA1 185delAG, BRCA2 6174delT; Breast cancer; Cancer predisposition; Heteroduplex analysis; Mutation detection; PCR

Indexed keywords

HETERODUPLEX;

ALLELE; ARTICLE; BREAST CANCER; CANCER SUSCEPTIBILITY; DNA DETERMINATION; FEMALE; GENE DELETION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; HUMAN TISSUE; JEW; ONCOGENE; OVARY CANCER; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RISK ASSESSMENT;

ALLELES; BRCA2 PROTEIN; BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; GENE AMPLIFICATION; GENES, BRCA1; HUMANS; LOSS OF HETEROZYGOSITY; MICROSCOPY, FLUORESCENCE; MUTATION; NEOPLASM PROTEINS; OVARIAN NEOPLASMS; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 0031444211     PISSN: 10529551     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019606-199708000-00007     Document Type: Article

References (25)

1. Beckmann MW, Picard F, An HX, et al. Clinical impact of detection of loss of heterozygosity of BRCA1 and BRCA2 markers in sporadic breast cancer. Br J Cancer 1996;73:1220-26.
2. Boyd J. BRCA2 as a low-penetrance cancer gene. J Natl Canc Inst 1996;88:1408-09.
3. Boyd M, Harris F, McFarlane R, Davidson HR, Black DM. A human BRCA1 gene knockout. Nature 1995;375:541-42.
4. Easton DF, Ford D, Bishop TD, and the Breast Cancer Linkage Consortium. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Am J Hum Genet 1995;56:265-71.
5. Fitzgerald MG, MacDonald DJ, Krainer M, et al. Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med 1996;334:143-49.
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. Friedman LS, Szabo CI, Ostermeyer EA, et al. Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jews. Am J Hum Genet 1995;57:1284-97.
8. Futreal PA, Liu Q, Shattuck-Eidens D, et al. BRCA1 mutations in primary breast and ovarian carcinomas. Science 1996;266:120-22.
9. Gayther SA, Harrington P, Russell P, et al. Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis. Am J Hum Genet 1996;58:451-56.
10. Hakem R, de la Pompa JL, Sirard C, et al. The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse. Cell 1996;85:1009-23.
11. Horton RM, Cai ZL, Ho SN, Pease LR. Gene splicing by overlap extension: tailor-made genes using the polymerase chain reaction. Biotechniques 1990;8:528-35.
12. Liu C-Y, Flesken-Nikitin A, Li S, Zeng Y, Lee W-H. Inactivation of the mouse Brca1 gene leads to failure in the morphogenesis of the egg cylinder in early postimplantation development. Genes Develop 1996;10:1835-43.
13. Marcus JN, Watson P, Page DL, et al. Hereditary breast cancer: pathobiology, prognosis, and BRCA1 and BRCA2 gene linkage. Cancer 1996;77:697-709.
14. 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.
15. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 1988;16:1215.
16. Nagai MA, Yamamoto L, Salaorni S, et al. Detailed deletion mapping of chromosome segment 17q12-21 in sporadic breast tumours. Genes Chromos Cancer 1994;11:58-62.
17. Neuhausen S, Gilewski T, Norton L, et al. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet 1996;13:126-28.
18. Oddoux C, Struewing JP, Clayton CM, et al. The carrier frequency of the BRCA2 6174delT mutation among Ashkenazim Jewish individuals is approximately 1%. Nat Genet 1996;14:188-90.
19. Offit K, Gilewski T, McGuire P, et al. Germline BRCA1 185delAG mutations in Jewish women with breast cancer. Lancet 1996;347: 1643-45.
20. Ozcelik H, Antebi YJ, Cole DEC, Andrulis IL. Heteroduplex and protein truncation analysis of the BRCA1 185delAG mutation. Hum Genet 1996;98:310-12.
21. Roa BB, Boyd AA, Volcik K, Richards CS. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 1996;14:185-87.
22. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. Cold Spring Harbor, NY: Cold spring Harbor Laboratory Press, 1989.
23. Serova O, Montagna M, Torchard D, et al. High incidence of BRCA1 mutation in 20 breast-ovarian cancer families. Am J Hum Gent 1996;58:42-51.
24. Shattuck-Eidens D, McClure M, Simard J, et al. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. J Am Med Assoc 1995;273:535-41.
25. Wooster R, Bignell G, Lancaster J, et al. Identification of the cancer susceptibility gene BRCA2. Nature 1995;378:789-91.