Evaluation of the diagnostic accuracy of the stop codon (SC) assay for identifying protein-truncating mutations in the BRCA1 and BRCA2 genes in familial breast cancer

Journal of Human Genetics

Volumn 48, Issue 3, 2003, Pages 130-137

  Sakayori, Masato ^a   Kawahara, Masanori ^a,b   Shiraishi, Kazuko ^a,c   Nomizu, Tadashi ^d   Shimada, Akira ^a   Kudo, Toshio ^a   Abe, Rikiya ^e   Ohuchi, Noriaki ^c   Takenoshita, Seiichi ^b   Kanamaru, Ryunosuke ^a   Ishioka, Chikashi ^a  

^a TOHOKU UNIVERSITY   (Japan)

^b FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^c TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d HOSHI GENERAL HOSPITAL   (Japan)

^e Tohoku Familial Tumor Association   (Japan)

Author keywords

BRCA1; BRCA2; Familial breast cancer; Genetic testing; Stop codon assay

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; DNA FRAGMENT; GENOMIC DNA;

ARTICLE; ASSAY; BREAST CANCER; CANCER SCREENING; CLINICAL ARTICLE; DIAGNOSTIC ACCURACY; DNA SEQUENCE; EVALUATION; FAMILIAL CANCER; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; HUMAN TISSUE; JAPAN; PREDICTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS; STOP CODON; BREAST CARCINOGENESIS; CANCER PATIENT; CASE CONTROL STUDY; CLINICAL EVALUATION; COMPARATIVE STUDY; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; HEREDITARY TUMOR SYNDROME; JAPANESE (PEOPLE); MEDICAL HISTORY; MUTATION RATE; MUTATIONAL ANALYSIS; PREDICTIVE VALUE; STOP CODON ASSAY;

EID: 0037237077     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380300020     Document Type: Article

References (33)

1. Anglian Breast Cancer Study Group (2000) Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br J Cancer 83:1301-1308
2. Easton DF, Bishop DT, Ford D, Crockford GP (1993) Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium. Am J Hum Genet 52:678-701
3. FitzGerald MG, Bean JM, Hegde SR, Unsal H, MacDonald DJ, Harkin DP, Finkelstein DM, Isselbacher KJ, Haber DA (1997) Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nat Genet 15:307-310
4. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Zelada-Hedman M, The Breast Cancer Linkage Consortium (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 62:676-689
5. Hogervorst FB, Cornelis RS, Bout M, van Vliet M, Oosterwijk JC, Olmer R, Bakker B. Klijn JG, Vasen HF, Meijers-Heijboer H, Menko FH, Cornelisse CJ, den Dunnen JT, Devilee P, van Ommen GJ (1995) Rapid detection of BRCA1 mutations by the protein truncation test. Nat Genet 10:208-212
6. Ikeda N, Miyoshi Y, Yoneda K, Shiba E, Sekihara Y, Kinoshita M, Noguchi S (2001) Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. Int J Cancer 91:83-88
7. Inoue R. Fukutomi T, Ushijima T, Matsumoto Y, Sugimura T, Nagao M (1995) Germline mutation of BRCA1 in Japanese breast cancer families. Cancer Res 55:3521-3524
8. Inoue R, Ushijima T, Fukutomi T, Fukami A, Sugimura H, Inoue S, Okonogi H, Sugimura T, Matsumoto Y, Nagao M (1997) BRCA2 germline mutations in Japanese breast cancer families. Int J Cancer 74:199-204
9. Ishioka C, Suzuki T, FitzGerald M, Krainer M, Shimodaira H, Shimada A, Nomizu T, Isselbacher KJ, Haber D, Kanamaru R (1997) Detection of heterozygous truncating mutations in the BRCA1 and A PC genes by using a rapid screening assay in yeast. Proc Natl Acad Sci USA 94:2449-2453
10. Kuklin A, Munson K, Gjerde D, Haefele R, Taylor P (1997) Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system. Genet Test 1:201-206
11. Mazoyer S, Dunning AM, Serova O, Dearden J, Puget N, Healey CS, Gayther SA, Mangion J, Stratton MR, Lynch HT, Goldgar DE, Ponder BA, Lenoir GM (1996) A polymorphic stop codon in BRCA2. Nat Genet 14:253-254
12. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, Bell R, Rosenthal J, Hussey C, Tran T, McClure M, Frye C, Hattier T, Phelps R, Haugen-Strano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow PK, Norris FH, Helvering L, Morrison P, Rosteck P, Lai M, Barrett JC, Lewis C, Neuhausen S, Cannon-Albright L, Goldgar D, Wiseman R, Kamb A, Skolnick MH (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71
13. Narod SA, Ford D, Devilee P, Barkardottir RB, Lynch HT, Smith SA, Ponder BA, Weber BL, Garber JE, Birch JM, Cornelis RS, Kelsell DP, Spurr NK, Smyth E, Haites N, Sobol H, Bignon Y, Chang-Claude J, Hamann U, Lindblom A, Borg A, Piver MS, Gallion HH, Struewing JP, Whittemore A, Tonin P, Goldgar DE, Easton DF, The Breast Cancer Linkage Consortium (1995) An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Am J Hum Genet 56:254-264
14. Neuhausen SL (1999) Ethnic differences in cancer risk resulting from genetic variation. Cancer 86:2575-2582
15. Orita M, Iwahana H, Kanazawa H. Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770
16. Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drusedau M, Hogervorst FB, Hageman S, Arts PJ, Ligtenberg MJ, Meijers-Heijboer H, Klijn JG, Vasen HF, Cornelisse CJ, van't Veer LJ, Bakker E, van Ommen GJ, Devilee P (1997) BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 17:341-345
17. Powell SM, Petersen GM, Krush AJ, Booker S, Jen J, Giardiello FM, Hamilton SR, Vogelstein B, Kinzler KW (1993) Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 329:1982-1987
18. Puget N, Torchard D, Serova-Sinilnikova OM, Lynch HT, Feunteun J, Lenoir GM, Mazoyer S (1997) A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Res 57:828-831
19. Puget N, Sinilnikova OM, Stoppa-Lyonnet D, Audoynaud C, Pages S, Lynch HT, Goldgar D, Lenoir GM, Mazoyer S (1999a) An Alumediated 6-kb duplication in the BRCA1 gene: a new founder mutation? Am J Hum Genet 64:300-302
20. Puget N, Stoppa-Lyonnet D, Sinilnikova OM, Pages S, Lynch HT, Lenoir GM, Mazoyer S (1999b) Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res 59:455-461
21. Rebbeck TR (1999) Inherited genetic predisposition in breast cancer. A population-based perspective. Cancer 86:2493-2501
22. Shih HA, Couch FJ, Nathanson KL, Blackwood MA, Rebbeck TR, Armstrong KA, Calzone K, Stopfer J, Seal S, Stratton MR, Weber BL (2002) BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic. J Clin Oncol 20:994-999
23. Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, Timmerman MM, Brody LC, Tucker MA (1997) The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 336:1401-1408
24. Suzuki T, Ishioka C, Kato S, Mitachi Y, Shimodaira H, Sakayori M, Shimada A, Asamura M, Kanamaru R (1998) Detection of APC mutations by a yeast-based protein truncation test (YPTT). Genes Chromosomes Cancer 21:290-297
25. Swensen J, Hoffman M, Skolnick MH, Neuhausen SL (1997) Identification of a 14kb deletion involving the promoter region of BRCA1 in a breast cancer family. Hum Mol Genet 6:1513-1517
26. Szabo CI, King MC (1997) Population genetics of BRCA1 and BRCA2. Am J Hum Genet 60:1013-1020
27. Takano M, Aida H, Tsuneki I, Takakuwa K, Hasegawa I, Tanaka H, Saito M, Tsuji S, Sonoda T, Hatae M, Chen JT, Takahashi K, Hasegawa K, Toyoda N, Saito N, Yakushiji M, Araki T, Tanaka K (1997) Mutational analysis of BRCA1 gene in ovarian and breastovarian cancer families in Japan. Jpn J Cancer Res 88:407-413
28. Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Berry S, Bogden R, Chen Q, Davis T, Dumont M, Frye C, Hattier T, Jammulapati S, Janecki T, Jiang P, Kehrer R, Leblanc JF, Mitchell JT, McArthur-Morrison J, Nguyan K, Peng Y, Samson C, Schroeder M, Synder SC, Steele L, Stringfellow M, Stroup C, Swedlund B, Swensen J, Teng D, Thomas A, Tran T, Tran T, Tranchant M, Weaver-Feldhaus J, Wong AKC, Shizuya H, Eyfjord JE, Cannon-Albright L, Labrie F, Skolnick MH, Weber B, Kamb A, Goldgar DE (1996) The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet 12:333-337
29. Thorlacius S, Struewing JP, Hartge P, Olafsdottir GH, Sigvaldason H, Tryggvadottir L, Wacholder S, Tulinius H, Eyfjord JE (1998) Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet 352:1337-1339
30. van der Luijt R, Khan PM, Vasen H, van Leeuwen C, Tops C, Roest P, den Dunnen J, Fodde R (1994) Rapid detection of translationterminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics 20:1-4
31. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789-792
32. Xiao W, Oefner PJ (2001) Denaturing high-performance liquid chromatography: a review. Hum Mutat 17:439-474
33. Zweig MH, Campbell G (1993) Receiver-operating characteristic (ROC) plots: a fundamental evaluation tool in clinical medicine. Clin Chem 39:561-577