An ELISA-based high throughput protein truncation test for inherited breast cancer

Breast Cancer Research

Volumn 12, Issue 5, 2010, Pages

  Lim, Mark J ^a   Foster, Gabriel J ^a   Gite, Sadanand ^b   Ostendorff, Heather P ^a   Narod, Steven ^c   Rothschild, Kenneth J ^a,d  

^a AMBERGEN INC   (United States)

^b First Light Biosciences Inc   (United States)

^c UNIVERSITY OF TORONTO   (Canada)

^d BOSTON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; EPITOPE; GENOMIC DNA; MESSENGER RNA; BRCA1 PROTEIN, HUMAN; BRCA2 PROTEIN, HUMAN; TUMOR PROTEIN;

AMINO TERMINAL SEQUENCE; ARTICLE; AUTORADIOGRAPHY; BLOOD SAMPLING; BREAST CANCER; CANCER DIAGNOSIS; CANCER SUSCEPTIBILITY; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; ENZYME LINKED IMMUNOSORBENT ASSAY; EXON; GENE AMPLIFICATION; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; HIGH THROUGHPUT SCREENING; HUMAN; NONSENSE MUTATION; OPEN READING FRAME; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PROTEIN SYNTHESIS; PROTEIN TRUNCATION TEST; RNA TRANSLATION; SENSITIVITY AND SPECIFICITY; BREAST TUMOR; FEMALE; GENETIC PREDISPOSITION; GENETICS; METHODOLOGY; MUTATION; TUMOR CELL LINE; TUMOR SUPPRESSOR GENE;

BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; CELL LINE, TUMOR; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT SCREENING ASSAYS; HUMANS; MUTATION; NEOPLASM PROTEINS;

EID: 78650911595     PISSN: 14655411     EISSN: 1465542X     Source Type: Journal    
DOI: 10.1186/bcr2722     Document Type: Article

References (19)

1. Worman HJ, Courvalin JC. Antinuclear antibodies specific for primary biliary cirrhosis. Autoimmun Rev 2003, 2:211-217. 10.1016/S1568-9972(03)00013-2, 12848948.
2. Gerhardus A, Schleberger H, Schlegelberger B, Gadzicki D. Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review. Eur J Hum Genet 2007, 15:619-627. 10.1038/sj.ejhg.5201806, 17342152.
3. Claus EB, Schildkraut JM, Thompson WD, Risch NJ. The genetic attributable risk of breast and ovarian cancer. Cancer 1996, 77:2318-2324. 10.1002/(SICI)1097-0142(19960601)77:11<2318::AID-CNCR21>3.0.CO;2-Z, 8635102.
4. Rebbeck TR, Couch FJ, Kant J, Calzone K, DeShano M, Peng Y, Chen K, Garber JE, Weber BL. Genetic heterogeneity in hereditary breast cancer: role of BRCA1 and BRCA2. Am J Hum Genet 1996, 59:547-553. 1914911, 8751855.
5. Narod SA, Foulkes WD. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 2004, 4:665-676. 10.1038/nrc1431, 15343273.
6. Breast Cancer Information Core (BIC) Database. , http://research.nhgri.nih.gov/bic/
7. Powell SM, Petersen GM, Krush AJ, Booker S, Jen J, Giardiello FM, Hamilton SR, Vogelstein B, Kinzler KW. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993, 329:1982-1987. 10.1056/NEJM199312303292702, 8247073.
8. Luce MC, Marra G, Chauhan DP, Laghi L, Carethers JM, Cherian SP, Hawn M, Binnie CG, Kam-Morgan LN, Cayouette MC, Koi M, Boland CR. In vitro transcription/translation assay for the screening of hMLH1 and hMSH2 mutations in familial colon cancer. Gastroenterology 1995, 109:1368-1374. 10.1016/0016-5085(95)90600-2, 7557107.
9. Peral B, Gamble V, Strong C, Ong AC, Sloane-Stanley J, Zerres K, Winearls CG, Harris PC. Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. Am J Hum Genet 1997, 60:1399-1410. 10.1086/515467, 1716112, 9199561.
10. Heim RA, Kam-Morgan LN, Binnie CG, Corns DD, Cayouette MC, Farber RA, Aylsworth AS, Silverman LM, Luce MC. Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum Mol Genet 1995, 4:975-981. 10.1093/hmg/4.6.975, 7655472.
11. Parry DM, MacCollin MM, Kaiser-Kupfer MI, Pulaski K, Nicholson HS, Bolesta M, Eldridge R, Gusella JF. Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet 1996, 59:529-539. 1914910, 8751853.
12. Roest PA, Roberts RG, van der Tuijn AC, Heikoop JC, van Ommen GJ, den Dunnen JT. Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations. Neuromuscul Disord 1993, 3:391-394. 10.1016/0960-8966(93)90083-V, 8186681.
13. Kahmann S, Herter P, Kuhnen C, Muller KM, Muhr G, Martin D, Soddemann M, Muller O. A non-radioactive protein truncation test for the sensitive detection of all stop and frameshift mutations. Hum Mutat 2002, 19:165-172. 10.1002/humu.10024, 11793475.
14. Gite S, Lim M, Carlson R, Olejnik J, Zehnbauer B, Rothschild K. A high-throughput nonisotopic protein truncation test. Nat Biotechnol 2003, 21:194-197. 10.1038/nbt779, 12524552.
15. Garvin AM. A complete protein truncation test for BRCA1 and BRCA2. Eur J Hum Genet 1998, 6:226-234. 10.1038/sj.ejhg.5200172, 9781026.
16. Andrulis IL, Anton-Culver H, Beck J, Bove B, Boyd J, Buys S, Godwin AK, Hopper JL, Li F, Neuhausen SL, Ozcelik H, Peel D, Santella RM, Southey MC, van Orsouw NJ, Venter DJ, Vijg J, Whittemore AS. Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations. Hum Mutat 2002, 20:65-73. 10.1002/humu.10097, 12112659.
17. Ozcelik H, Nedelcu R, Chan VW, Shi XH, Murphy J, Rosen B, Andrulis IL. Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript. Hum Mutat 1999, 14:540-541. 10.1002/(SICI)1098-1004(199912)14:6<540::AID-HUMU13>3.0.CO;2-C, 10571952.
18. Du L, Lai CH, Concannon P, Gatti RA. Rapid screen for truncating ATM mutations by PTT-ELISA. Mutat Res 2008, 640:139-144.
19. Evans J, Reuben A, Craft J. PBC 95k, a 95-kilodalton nuclear autoantigen in primary biliary cirrhosis. Arthritis Rheum 1991, 34:731-736. 10.1002/art.1780340614, 2053918.