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 and Cancer

Volumn 28, Issue 3, 2000, Pages 300-307

  Rohlfs, Elizabeth M ^a   Puget, Nadine ^b   Graham, Mark L ^a   Weber, Barbara L ^c   Garber, Judy E ^d   Skrzynia, Cecilé ^a   Halperin, Joseph L ^e   Lenoir, Gilbert M ^b   Silverman, Lawrence M ^a   Mazoyer, Sylvie ^b  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b UNIVERSITÉ LYON 1   (France)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d DANA FARBER CANCER INSTITUTE   (United States)

^e MOSES CONE HEALTH SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; BREAST CARCINOMA; CANCER FAMILY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE REARRANGEMENT; HAPLOTYPE; HUMAN; HUMAN TISSUE; INTERSPERSED REPEAT; NUCLEOTIDE SEQUENCE; OVARY CARCINOMA; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

ADULT; ALTERNATIVE SPLICING; ALU ELEMENTS; BRCA1 PROTEIN; BREAST NEOPLASMS; CHROMOSOME DELETION; DNA, NEOPLASM; EXONS; FEMALE; FRAMESHIFT MUTATION; HAPLOTYPES; HUMANS; MIDDLE AGED; OVARIAN NEOPLASMS; RECOMBINATION, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 18744438556     PISSN: 10452257     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-2264(200007)28:3<300::AID-GCC8>3.0.CO;2-1     Document Type: Article

References (17)

1. Chen SJ, Chen Z, Font M-P, d'Auriol L, Larsen C-J, Berger R. 1989. Structural alterations of the BCR and ABL genes in Ph1 positive acute leukemias with rearrangements in the BCR gene first intron: further evidence implicating Alu sequences in the chromosome translocation. Nucl Acids Res 17:7631-7642.
2. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claud J, Sobol H, Teare MS, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BAJ, Gayther SA, Birch JM, Lindblom A, Stoppa-Lyonnet D, Bignon V, Borg A, Hamann U, Haites N, Scott RJ, Maugard CM, Vasen H, Seitz, S, Cannon-Albright LA, Schofield A, 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.
3. Lehrman MA, Schneider WJ, Sudhof TC, Brown MS, Goldstein JL, Russell DW. 1985. Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science 277:140-146.
4. Maquat LE. 1995. When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1:453-465.
5. Miller SA, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 16:1215.
6. Montagna M, Santacatterina M, Torri, A, Menin C, Zullato D, Chieco-Bianchi L, D'Andrea E. 1999. Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families. Oncogene 18:4160-4165.
7. Payny SR, King M-C. 1997. Complex BRCA1 germline deletion and rearrangement of 1028 bp leads to deletion of exon 3 and disease predisposition: splicing by exon definition in BRCA1. Am J Hum Genet 61:A78.
8. Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. 1992. Charcot-Marie-Tooth type 1A duplication appears to areise from recombination at repeat sequences flanking the 1.5Mb monomer unit. Nat Genet 2:292-300.
9. Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drusedau M, Hogervorst FBL, Hageman S, Arts PJW, Ligtenberg MJK, Meijers-Heijboer H, Klijn JGM, Vasen HFA, Cornelisse CJ, van't Veer LJ, Bakker E, van Ommen G-JB, Devilee P. 1997. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 17:341-345.
10. Puget N, Tochard D, Serova-Sinilnikova OM, Lynch HT, Feunteun J, Lenoit GM, Mazoyer S. 1997. A 1 kb Alu-mediated germline deletion removing BRCA1 exon 17. Cancer Res 57:828-831.
11. Puget N, Sinilnikova OM, Stoppa-Lyonnet D, Audoynaud C, Pages S, Lynch HT, Goldgar D, Lenoir GM, Mazoyer S. 1999a. An Alu-mediated 6 kb duplication in the BRCA1 gene: a new founder mutation? Am J Hum Genet 64:300-302.
12. Puget N, Stoppa-Lyonnet S, Sinilnikova OM, Pages S, Lynch HT, Lenoir GM, Mazoyer S. 1999b. Screening for germline rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res 59:455-161.
13. Rebbeck TR, Couch KJ, Kant J, Calzone K, DeShano M, Peng Y, Chen K, Garber JE, Weber BL. 1996. Genetic heterogeneity in hereditary breast cancer: role of BRCA1 and BRCA2. Am J Hum Genet 59:547-553.
14. Roest PAM, Roberts RG, Sugino S, van Ommen G-JB, den Dunnen, JT. 1993. Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet 2:1719-1721.
15. Smith TM, Lee MK, Szabo CI, Jerome N, McEuen M, Taylor M, Hood L, King M-C. 1996. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res 6:1029-1049.
16. Speevak MD, Senterman M, Somerville MJ, Fung M, Aubry HL, Surh LC. 1997. Sporadic ovarian cancers: combining pathology and molecular tests improves BRCA1 mutation detection rate. Am J Hum Genet 61:A83.
17. Swensen J, Hoffman M, Skolnick MH, Neuhausen SL. 1997. Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family. Hum Mol Genet 6:1513-1517.