Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers

Human Molecular Genetics

Volumn 7, Issue 2, 1998, Pages 195-202

  Thai, To Hoa ^a   Du, Fenghe ^a   Tsan, Julia Tsou ^a   Jin, Ying ^a   Phung, Anne ^a   Spillman, Monique A ^a   Massa, Hillary F ^b   Muller, Carolyn Y ^a   Ashfaq, Raheela ^a   Mathis, J Michael ^a   Miller, David S ^a   Trask, Barbara J ^b   Baer, Richard ^a   Bowcock, Anne M ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ONCOPROTEIN;

ARTICLE; BREAST CARCINOMA; BREAST TUMOR; CANCER GENETICS; CLEAR CELL CARCINOMA; CONTROLLED STUDY; DNA POLYMORPHISM; ENDOMETRIUM CANCER; FEMALE; GENE MUTATION; GERM LINE; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; ONCOGENE; OVARY TUMOR; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE; UTERUS TUMOR;

ADENOCARCINOMA; ADENOCARCINOMA, CLEAR CELL; ALLELES; BREAST NEOPLASMS; CARCINOMA, DUCTAL, BREAST; CARCINOMA, ENDOMETRIOID; CARCINOMA, INTRADUCTAL, NONINFILTRATING; CARCINOMA, LOBULAR; CARRIER PROTEINS; CYSTADENOCARCINOMA, PAPILLARY; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; ENDOMETRIAL NEOPLASMS; EXONS; FEMALE; GENES, TUMOR SUPPRESSOR; HUMANS; LOSS OF HETEROZYGOSITY; MIXED TUMOR, MULLERIAN; MOLECULAR SEQUENCE DATA; NEOPLASMS, MULTIPLE PRIMARY; NEOPLASTIC SYNDROMES, HEREDITARY; OVARIAN NEOPLASMS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SARCOMA; TUMOR CELLS, CULTURED; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN-PROTEIN LIGASES; UTERINE NEOPLASMS;

EID: 2142721332     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.2.195     Document Type: Article

References (35)

1. Hall, J.M., Lee, M.K., Newman, B., Morrow, J.E., Anderson, L.A., Huey, B. and King, M.-C. (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science, 250, 1684-1689.
2. Miki, Y., Swensen, J., Shattuck Eidens, D., Futreal, P.A., Harshman, K., Tavtigian, S., Liu, Q., Cochran, C., Bennett, L.M., 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, P.K., Norris, F.H., Helvering, L., Morrison, P., Rosteck, P., Lai, M., Barrett, J.C., Lewis, C., Neuhausen, S., Cannon-Albright, L., Goldgar, D., Wiseman, R., Kamb, A. and Skolnick, M.H. (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 266, 66-71.
3. Easton, D.F., Bishop, D.T., Ford, D. and Crockford, G.P. (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.
4. Ford, D., Easton, D.F. and Peto, J. (1995) Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am. J. Hum. Genet., 57, 1457-1462.
5. Smith, S.A., Easton, D.F., Evans, D.G.R. and Ponder, B.A.J. (1992) Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome. Nature Genet., 2, 128-131.
6. Koonin, E.V., Altschul, S.F. and Bork, P. (1996) BRCA1 protein products: functional motifs. Nature Genet., 13, 266-267.
7. Wu, L.C., Wang, Z.W., Tsan, J.T., Spillman, M.A., Phung, A., Xu, X.L., Yang, M.-C, Hwang, L.-Y., Bowcock, A.M. and Baer, R. (1996) Identification of a RING protein that can interact in vivo with the BRACI gene product. Nature Genet., 14, 430-440.
8. Jin, Y., Xu, X.L., Yang, M.-C.,W., Wei, F., Ayi, T.C., Bowcock, A.M. and Baer, R. (1997) Cell cycie-dependent colocalization of BARD1 and BRCA1 in discrete nuclear domains. Proc. Natl Acad. Sci. USA, 94, 12075-12080.
9. Scully, R., Chen, J., Ochs, R.L., Keegan, K., Hoekstra, M., Feunteun, J. and Livingston, D.M. (1997) Dynamic changes of BRCA1 subnuclear location and phosphorylation state are initiated by DNA damage. Cell, 90, 425-435.
10. Orita, M., Wahana, H., Kanazawa, H., Hayashi, K. and Sekiya, T. (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-stranded conformation polymorphisms. Proc. Natl Acad. Sci. USA, 86, 2766-2770.
11. Langdon, S.P., Lawrie, S.S., Hay, F.G., Hawkes, M.M., McDonald, A., Hayward, I.P., Schol, D.J., Hilgers, J., Leonard, R.C. and Smyth, J.F. (1988) Characterization and properties of nine human ovarian adenocarcinoma cell lines. Cancer Res., 48, 6166-6172.
12. Soule, H.D., Vazquez, J., Long, A., Albert, S. and Brennan, M. (1973) A human cell line from a pleural effusion derived from a breast carcinoma. J. Natl Cancer Inst., 51, 1409-1413.
13. Mazoyer, S., Dunning, A.M. Serova, O., Dearden, J., Puget, N., Healey, C.S., Gayther, S.A., Mangion, J., Stratton, M.R., Lynch, H.T., Goldgar, D.E., Ponder, B.A. and Lenoir, G.M. (1996) A polymorphic stop codon in BRCA2. Nature Genet., 14, 253-254.
14. Bork, P., Hofmann, K., Bucher, P., Neuwald, A.F., Altschul, S.F. and Koonin, E.V. (1997) A superfamily of conserved domains in DNA damage-responsive cell cycle checkpoint proteins. FASEB J., 11, 68-76.
15. Callebaut, I. and Mornon, J.-P. (1997) From BRCA1 to RAP1: a widespread BRCT module closely associated with DNA repair. FEBS Lett., 400, 25-30.
16. Chapman, M.S. and Verma, I.M. (1996) Transcriptional activation by BRCA1. Nature, 382, 678-679.
17. Monteiro, A.N.A., August, A. and Hanafusa, H. (1996) Evidence for a transcriptional activation function of BRCAI C-terminal region. Proc. Natl Acad. Sci. USA, 93, 13595-13599.
18. Scully, R., Chen, J., Plug, A., Xiao, Y., Weaver, D., Feunteun, J., Ashley, T. and Livingston, D.M. (1997) Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell, 88, 265-275.
19. Merajver, S.D., Pham, T.M., Caduff, R.F., Chen, M., Poy, E.L., Cooney, K.A., Weber, B.L., Collins, F.S., Johnston, C. and Frank, T.S. (1995) Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. Nature Genet., 9, 439-443.
20. Hosking, L., Trowsdale, J., Nicolai, H., Solomon, E., Foulkes, W., Stemp, G., Signer, E. and Jeffreys, A. (1995) A somatic BRCA1 mutation in an ovarian tumour. Nature Genet., 9, 343-344.
21. Miki, Y., Katagiri, T., Kasumi, F., Yoshimoto, T. and Nakamura, Y. (1996) Mutation analysis in the BRCA2 gene in primary breast cancers. Nature Genet., 13, 245-247.
22. Lancaster, J., Wooster, R., Mangion, J., Phelan, C., Cochran, C., Gumbs, C., Seal, S., Barfoot, R., Collins, N., Bignell, G., Patel, S., Hamoudi, R., Larsson, C., Wiseman, R., Berchuck, A., Iglehart, J., Marks, J., Ashworth, A., Stratton, M.R. and Futreal, P.A. (1996) BRCA2 mutations in primary breast and ovarian cancers. Nature Genet., 13, 238-240.
23. Phelan, C., Lancaster, J.M., Tonin, P., Gumbs, C., Cochran, C., Carter, R., Ghadirian, P., Perret, C., Moslehi, R., Dion, F., Faucher, M., Dole, K., Karimi, S., Foulkes, W., Lounis, H., Watner, E., Goss, P., Anderson, D., Larsson, C., Narod, S. and Futreal, P. A. (1966) Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nature Genet., 13, 120-122.
24. Takahashi, H., Chiu, H.-C., Bandera, C.A., Behbakht, K., Liu, P.C., Couch, F.J., Weber, B.L., LiVolsi, V.A., Furusato, M., Rebane, B.A., Cardonick, A., Benjamin, I., Morgan, M.A., King, S.A., Mikuta, J.J., Rubin, S.C. and Boyd, J. (1996) Mutations of the BRCA2 gene in ovarian carcinomas. Cancer Res., 56, 2738-2741.
25. Teng, D.H.F., Bogden, R., Mitchell, J., Baumgard, M., Bell, R., Berry, S., Davis, T., Ha, P.C., Kehrer, R., Jammulapati, S., Chen, Q., Offit, K., Skolnick, M.H., Tavtigian, S.V., Jhanwar, S., Swedlund, B., Wong, A.K.C. and Kamb, A. (1996) Low incidence of BRC A2 mutations in breast carcinoma and other cancers. Nature Genet., 13, 241-244.
26. Weber, B.H.F., Brohm, M., Stec, I., Backe, J. and Caffier, H. (1996) A somatic truneating mutation in BRCA2 in a sporadic breast tumor. Am. J. Hum. Genet., 59, 962-964.
27. Bowcock, A.M., Anderson, L.A., Friedman, L.S., Black, D.M., Osborne-Lawrence, S., Rowell, S.E., Hall, J.M. and King, M.-C. (1993) THRAI and D17S183 flank an interval of <4 cM for the breast-ovarian cancer gene (BRCAI) on chromosome 17q21. Am. J. Hum. Genet., 52, 718-722.
28. DiSaia, P.J., Sinkovics, J.G., Rutledge, F.N. and Smith, J.P. (1972) Cell-mediated immunity to human malignant cells. Am. J. Gynecol., 114, 979-989.
29. Freedman, R.S., Pihl, E., Kusyk, C., Gallager, H.S. and Rutledge, F. (1978) Characterization of an ovarian carcinoma cell line. Cancer, 42, 2352-2359.
30. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Loboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
31. Kurth, J.H., Bowcock, A.M., Erlich, H.A., Nevo, S. and Cavalli-Sforza. (1991) Km typing with PCR: application to population screening. Am. J. Hum. Genet. 48, 613-620.
32. Wood, W.I., Gitschier, J., Lasky, L.A. and Lawn, R.M. (1985) Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries. Proc. Natl Acad. Sci. USA, 82, 1585-1588.
33. Trask, B.J. (1998) Fluorescence in situ hybridization. In Birren, B., Green, E., Hieter, P. and Myers, R., eds. Genome Analysis: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
34. Wise, C.A., Clines, G.A., Massa, H., Trask, B.J. and Lovett, M. (1997) Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. Genome Res., 7, 10-16.
35. Beaudet, A.L. and Tsui, L.-C. (1993) A suggested nomenclature for designating mutations. Hum. Mutat., 2, 245-248.