Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis

Clinical Chemistry

Volumn 43, Issue 1, 1997, Pages 24-29

  Rohlfs, Elizabeth M ^a   Learning, William G ^a   Friedman, Kenneth J ^b   Couch, Fergus J ^c   Weber, Barbara L ^c,d   Silverman, Lawrence M ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF NORTH CAROLINA   (United States)

^c University of Pennsylvania ^*  (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

genetics; ovarian cancer; polymerase chain reaction

Indexed keywords

ARTICLE; BREAST CANCER; BREAST CARCINOGENESIS; CANCER RISK; CANCER SUSCEPTIBILITY; GENE MUTATION; HUMAN; HUMAN TISSUE; OVARY CANCER; POLYMERASE CHAIN REACTION; SITE DIRECTED MUTAGENESIS; TUMOR SUPPRESSOR GENE;

EID: 0031012211     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/43.1.24     Document Type: Article

References (28)

1. Struewing JP, Abeliovich D, Peretz T, Avishai N, Kaback MM, Collins FS, Brody LC. The carrier frequency of the BRCA1 mutation 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 1995;11:198-200.
2. Rowell S, Bewman B, Boyd J, King M-C. Inherited predisposition to breast and ovarian cancer. Am J Hum Genet 1994;55:861-5.
3. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King M-C. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990;250:1684-9.
4. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994;266:66-71.
5. Easton DF, Bishop DT, Ford D, Crockford GP, and the 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.
6. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE, and the Breast Cancer Linkage Consortium. Risks of cancer in BRCA1-mutation carriers. Lancet 1994;343:692-5.
7. Shattuck-Eidens D, McClure M, Simard J, Labrie F, Narod S, Couch F, et al. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. JAMA 1995;273: 535-41.
8. Breast Cancer Information Core, National Center for Human Genome Research, National Institutes of Health, http://www.nch-gr.nih.gov/Intramural_ research/Lab transfer/Bic/.
9. Jensen RA, Thompson ME, Jetton TL, Czabo CI, van der Meer R, Helou B, et al. BRCA1 is secreted and exhibits properties of a granin. Nat Genet 1996;12:303-8.
10. Simard J, Tonin P, Durocher F, Morgan K, Rommens J, Gingras S, et al. Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet 1994;8:392-8.
11. Gayther SA, Warren W, Mazoyer S, Russell PA, Harrington PA, Chiano M, et al. Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet 1995;11:428-33.
12. Neuhausen SL, Mazoyer S, Friedman L, Stratton M, Offit K, Caligo A, et al. Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet 1996;58:271-80.
13. Berman DB, Wagner-Costalas J, Schultz DC, Lynch HT, Daly M, Godwin AK. Two distinct origins of a common BRCA1 mutation in breast-ovarian cancer families: a genetic study of 15 185delAG-mutation kindreds. Am J Hum Genet 1996;58:1166-76.
14. Johannsson O, Ostemeyer EA, Hakansson S, Friedman L, Johansson U, Sellberg G, et al. Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. Am J Hum Genet 1996;58:441-50.
15. Fitzgerald MG, MacDonald DJ, Krainer M, Hoover I, O'Neil E, Unsal H, et al. Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med 1996;334: 143-9.
16. Haliassos A, Chomel JC, Tesson L, Baudis M, Kruh J, Kaplan JC, Kitzis A. Modification of enzymatically amplified DNA for the detection of point mutations. Nucleic Acid Res 1989;17:3606.
17. Friedman KJ, Highsmith WE Jr, Silverman LM. Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis. Clin Chem 1991;37:753-5.
18. Eiken HG, Odland E, Boman H, Skjelkvale L, Engebretsen LF, Apold J. Application of natural and amplification-created restriction sites for the diagnosis of PKU mutations. Nucleic Acid Res 1991;19:1427-30.
19. Vohl M, Couture P, Moorjani S, Torres AL, Gagne C, Despres J, et al. Rapid restriction fragment analysis for screening four point mutations of the low-density lipoprotein receptor gene in French Canadians. Hum Mutat 1995;6:243-6.
20. Nagamine CM, Chan K, Lau Y-FC. A PCR artifact: generation of heteroduplexes. Am J Hum Genet 1989;45:337-8.
21. Castilla LH, Couch FJ, Erdos MR, Hoskins KF, Calzone K, Garber JE, et al. Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nat Genet 1995;8:387-91.
22. Tsui L-C, ed. CF Genetic Analysis Consortium Newsletter. Toronto, Canada: The Hospital for Sick Children, July 11, 1995.
23. Scriver CR. Science, medicine and phenylketonuria. Acta Paediatr Suppl 1994;407:11-8.
24. Wang Q, Shen J, Li Z, Timothy K, Vincent GM, Priori SG, et al. Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet 1995; 4:1603-7.
25. Blank RD, Sklar CA, Martin ML. Denaturing gradient gel electrophoresis to diagnose multiple endocrine neoplasia type 2. Clin Chem 1996;42:598-603.
26. Heim RA, Kam-Morgan LNW, Binnie CG, Corns DD, Cayouette MC, Farber RA, et al. Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum Mol Genet 1995;4:975-81.
27. Collins FS. BRCA1 - lots of mutations, lots of dilemmas. N Engl J Med 1996;334:186-8.
28. Friend SH. Breast cancer susceptibility testing: realities in the post-genomic era. Nat Genet 1996;13:16-7.