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Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family
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Swensen J., Hoffman M., Skolnick M.H., and Neuhausen S.L. Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family. Hum Mol Genet 6 (1997) 1513-1517
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Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families
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Montagna M., Santacatterina M., Torri A., Menin C., Zullato D., Chieco-Bianchi L., and D′Andrea E. Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families. Oncogene 18 (1999) 4160-4165
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Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families
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Peelen T., van Vliet M., Bosch A., Bignell G., Vasen H.F., Klijn J.G., Meijers Heijboer H., Stratton M., van Ommen G.J., Cornelisse C.J., and Devilee P. Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families. Br J Cancer 82 (2000) 151-156
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Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions
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An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10
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Rohlfs E.M., Puget N., Graham M.L., Weber B.L., Garber J.E., Skrzynia C., Halperin J.L., Lenoir G.M., Silverman L.M., and Mazoyer S. An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10. Genes Chromosomes Cancer 28 (2000) 300-307
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Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families
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Lahti-Domenici J., Rapakko K., Paakkonen K., Allinen M., Nevanlinna H., Kujala M., Huusko P., and Winqvist R. Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families. Cancer Genet Cytogenet 129 (2001) 120-123
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A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17
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Puget N., Torchard D., Serova-Sinilnikova O.M., Lynch H.T., Feunteun J., Lenoir G.M., and Mazoyer S. A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Res 57 (1997) 828-831
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Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments
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Casilli F., Di Rocco Z.C., Gad S., Tournier I., Stoppa-Lyonnet D., Frebourg T., and Tosi M. Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat 20 (2002) 218-226
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Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method
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Hofmann W., Gorgens H., John A., Horn D., Huttner C., Arnold N., Scherneck S., and Schackert H.K. Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method. Hum Mutat 22 (2003) 103-104
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Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing
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Gad S., Scheuner M.T., Pages-Berhouet S., Caux-Moncoutier V., Bensimon A., Aurias A., Pinto M., and Stoppa-Lyonnet D. Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing. J Med Genet 38 (2001) 388-392
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Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families
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Gad S., Klinger M., Caux-Moncoutier V., Pages-Berhouet S., Gauthier-Villars M., Coupier I., Bensimon A., Aurias A., and Stoppa-Lyonnet D. Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families. J Med Genet 39 (2002) 817-821
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Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families
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Gad S., Caux-Moncoutier V., Pages-Berhouet S., Gauthier-Villars M., Coupier I., Pujol P., Frenay M., Gilbert B., Maugard C., Bignon Y.J., Chevrier A., Rossi A., Fricker J.P., Nguyen T.D., Demange L., Aurias A., Bensimon A., and Stoppa-Lyonnet D. Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families. Oncogene 21 (2002) 6841-6847
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Hogervorst F.B., Nederlof P.M., Gille J.J., McElgunn C.J., Grippeling M., Pruntel R., Regnerus R., van Welsem T., van Spaendonk R., Menko F.H., Kluijt I., Dommering C., Verhoef S., Schouten J.P., van′t Veer L.J., and Pals G. Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res 63 (2003) 1449-1453
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Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families
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Montagna M., Dalla Palma M., Menin C., Agata S., De Nicolo A., Chieco-Bianchi L., and D′Andrea E. Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum Mol Genet 12 (2003) 1055-1061
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Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families
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Hartmann C., John A.L., Klaes R., Hofmann W., Bielen R., Koehler R., Janssen B., Bartram C.R., Arnold N., and Zschocke J. Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families. Hum Mutat 24 (2004) 534
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Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families
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Woodward A.M., Davis T.A., Silva A.G., Kirk J.A., Leary J.A., and kConFab Investigators. Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families. J Med Genet 42 (2005) e31
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Evaluation of two different models to predict BRCA1 and BRCA2 mutations in a cohort of Danish hereditary breast and/or ovarian cancer families
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Significant contribution of germline BRCA2 rearrangements in male breast cancer families
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Tournier I., Paillerets B.B., Sobol H., Stoppa-Lyonnet D., Lidereau R., Barrois M., Mazoyer S., Coulet F., Hardouin A., Chompret A., Lortholary A., Chappuis P., Bourdon V., Bonadona V., Maugard C., Gilbert B., Nogues C., Frebourg T., and Tosi M. Significant contribution of germline BRCA2 rearrangements in male breast cancer families. Cancer Res 64 (2004) 8143-8147
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