BRCA2 deep intronic mutation causing activation of a cryptic exon: Opening toward a new preventive therapeutic strategy

Clinical Cancer Research

Volumn 18, Issue 18, 2012, Pages 4903-4909

  Anczuków, Olga ^a   Buisson, Monique ^a   Léońe, Mélanie ^b   Coutanson, Christine ^b   Lasset, Christine ^c   Calender, Alain ^b   Sinilnikova, Olga M ^a,b   Mazoyer, Sylvie ^a,d  

^a CENTRE DE RECHERCHE EN CANCÉROLOGIE DE LYON   (France)

^b HOSPICES CIVILS DE LYON   (France)

^c UNIVERSITÉ LYON 1   (France)

^d CENTRE LÉON BÉRARD   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; BRCA1 PROTEIN; BRCA2 PROTEIN; GUANINE; RNA; THYMINE;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CONSENSUS SEQUENCE; EXON; FAMILY STUDY; GENE INSERTION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; INTRON; PRIORITY JOURNAL; REPORTER GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA SPLICING; SEQUENCE ANALYSIS; TUMOR SUPPRESSOR GENE;

ALTERNATIVE SPLICING; BREAST NEOPLASMS; CELL LINE, TUMOR; EXONS; FEMALE; GENES, BRCA1; GENES, BRCA2; HUMANS; INTRONS; MUTATION; OVARIAN NEOPLASMS; PEDIGREE;

EID: 84866391666     PISSN: 10780432     EISSN: 15573265     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-12-1100     Document Type: Article

References (31)

1. Thompson D, Easton D. The genetic epidemiology of breast cancer genes. J Mammary Gland Biol Neoplasia 2004;9:221-36.
2. Holloman WK. Unraveling the mechanism of BRCA2 in homologous recombination. Nat Struct Mol Biol 2011;18:748-54.
3. Mazoyer S. Recent advances in understanding the cellular functions of BRCA2. In:Welcsh P, editor. The role of genetics in breast and reproductive cancers. Seattle: Springer; 2010. p. 93-105.
4. Sharan SK, Morimatsu M, Albrecht U, Lim DS, Regel E, Dinh C, et al. Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2. Nature 1997;386:804-10.
5. Wong AK, Pero R, Ormonde PA, Tavtigian SV, Bartel PL. RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene brca2. J Biol Chem 1997;272:31941-4.
6. Breast Cancer Information Core database [cited 2012 Jul 31]. Available from: http://research.nhgri.nih.gov/bic/.
7. Ware MD, DeSilva D, Sinilnikova OM, Stoppa-Lyonnet D, Tavtigian SV, Mazoyer S. Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene? Oncogene 2006;25:323-8.
8. Bonaiti B, Alarcon F, Bonadona V, Pennec S, Andrieu N, Stoppa-Lyonnet D, et al. A new scoring system for the diagnosis of BRCA1/2 associated breast-ovarian cancer predisposition. Bull Cancer 2011;98:779-95.
9. Coulet F, Pires F, Rouleau E, Lefol C, Martin S, Colas C, et al. A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis. Genet Test Mol Biomarkers 2010;14:677-90.
10. Hutchison CA III. DNA sequencing: bench to bedside and beyond. Nucleic Acids Res 2007;35:6227-37.
11. Casilli F, Di Rocco ZC, Gad S, Tournier I, Stoppa-Lyonnet D, Frebourg T, et al. Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat 2002;20:218-26.
12. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
13. Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J Comput Biol 1997;4:311-23.
14. Splice Site Prediction by Neural Network [cited 2012 Jul 31]. Available from: http://www.fruitfly.org/seq-tools/splice.html.
15. Yeo G, Burge CB. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 2004;11:377-94.
16. Max EntScan [cited 2012 Jul 31]. Available from: http://genes.mit.edu/ burgelab/maxent/Xmaxentscan-scoreseq.html.
17. Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 2009;37:e67.
18. Human Splicing Finder [cited 2012 Jul 31]. Available from: http://www.umd.be/HSF/.
19. The 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 2010;467:1061-73.
20. Isken O, Maquat LE. Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function. Genes Dev 2007;21:1833-56.
21. Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 2002;3:285-98.
22. Hammond SM, Wood MJ. Genetic therapies for RNA mis-splicing diseases. Trends Genet 2011;27:196-205.
23. Kole R, Krainer AR, Altman S. RNA therapeutics: beyond RNA interference and antisense oligonucleotides. Nat Rev Drug Discov 2012;11:125-40.
24. Manoharan M. 2′-Carbohydrate modifications in antisense oligonucleotide therapy: importance of conformation, configuration and conjugation. Biochim Biophys Acta 1999;1489:117-30.
25. Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Hum Mutat 2012;33:1226-38.
26. Svasti S, Suwanmanee T, Fucharoen S, Moulton HM, Nelson MH, Maeda N, et al. RNA repair restores hemoglobin expression in IVS2-654 thalassemic mice. Proc Natl Acad Sci U S A 2009;106:1205-10.
27. Xie SY, Li W, Ren ZR, Huang SZ, Zeng F, Zeng YT. Correction of beta654-thalassaemia mice using direct intravenous injection of siRNA and antisense RNA vectors. Int J Hematol 2011;93:301-10.
28. Hua Y, Sahashi K, Hung G, Rigo F, Passini MA, Bennett CF, et al. Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev 2010;24:1634-44.
29. Hua Y, Sahashi K, Rigo F, Hung G, Horev G, Bennett CF, et al. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature 2011;478:123-6.
30. Lu QL, Rabinowitz A, Chen YC, Yokota T, Yin H, Alter J, et al. Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles. Proc Natl Acad Sci U S A 2005;102:198-203.
31. Dhir A, Buratti E. Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies. FEBS J 2010;277:841-55.