A complete protein truncation test for BRCA1 and BRCA2

European Journal of Human Genetics

Volumn 6, Issue 3, 1998, Pages 226-234

  Garvin, Alex M ^a,b  

^a UNIVERSITY HOSPITAL BASEL   (Switzerland)

^b Frauenspital   (Switzerland)

Author keywords

BRCA1; BRCA2; Mutation detection; Protein truncation test

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ARTICLE; GENE MUTATION; GENE SEQUENCE; HUMAN; PRIORITY JOURNAL; PROTEIN SYNTHESIS; PROTEIN TRUNCATION; TUMOR SUPPRESSOR GENE;

EID: 0031845204     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200172     Document Type: Article

References (23)

1. Roest PAM, Roberts RG, Sugino S, Van-Ommen GJB, Den-Dunnen JT: Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet 1993; 2(10): 1719-1721.
2. Powell SM, Petersen GM, Krush AJ et al: Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993; 329(27): 1982-1987.
3. 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.
4. Liu B, Parsons R, Papadopoulos N et al: Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med 1996; 2: 169-174.
5. 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(7): 535-541.
6. Wooster R, Bignell G, Lancaster J et al: Identification of the breast cancer susceptibility gene BRCA2. Nature 1995; 378: 789-792.
7. Tavtigian S, Simard J, Rommens J et al: The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet 1996; 12: 333-337.
8. Phelan CM, Lancaster JM, Tonin P et al: Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nat Genet 1996; 13: 120-122.
9. http://www.nchgr.nih.gov/Intramural_Research/Lab_ transfer/Bic/. Breast Cancer Information Core (BIC) data base.
10. Struewing JP, Abeliovich D, Peretz T, Avishai N, Kaback MM, Collins FS, Brody LC: The carrier frequency of the BRCA1 185delAg mutation is approximately 1 percent in Ashkenazi Jewish individuals.Nat Genet 1995; 11(2): 198-200.
11. Hacia JG, Brody LC, Chee MS, Fodor SPA, Collins FS: Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. Nat Genet 1996; 14: 441-447.
12. Hogervorst FBL, Cornelis RS, Bout Met al: Rapid detection of BRCA1 mutations by the protein truncation test. Nat Genet 1995; 10: 208-213.
13. Fitzgerald MG, Macdonald DJ, Krainer M et al: Germline BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med 1996; 334: 143-149.
14. Garvin AM, Spycher M, Haner M et al: BRCA1 mutations in a selected series of breast/ovarian cancer patients. J Med Gen 1996; 33: 721-725.
15. 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(4): 387-391.
16. Jacobson A, Peltz SW: Interrelationships of the pathways of mRNA decay and translation in eukaryotic cells. Ann Rev Biochem 1996; 65: 693-739.
17. Serova O, Montagna M, Torchard D et al: A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. Am J Hum Genet 1996; 58: 42-51.
18. Friedman LS, Szabo CI, Ostermeyer EA et al: Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. Am J Hum Genet 1995; 57: 1284-1297.
19. Hames BD, Rickwood D: Gel electrophoresis of proteins. In: Rickwood D, Hames BD, eds: The Practical Approach Series. Oxford University Press, Oxford, 1990: pp 12-19.
20. Schagger H, von Jagow G: Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa. Anal Biochem 1987; 166: 368-379.
21. Gardner RJ, Bobrow M, Roberts RG: The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test. Am J Hum Genet 1995; 57: 311-320.
22. Zhang S, Ruiz-Echevarria MJ, Quan Y, Peltz S: Identification and characterization of a sequence motif involved in nonsense-mediated mRNA decay. Mol Cell Biol 1995; 15: 2231-2244.
23. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 1988; 53: 739.