Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes

Breast Cancer Research and Treatment

Volumn 132, Issue 3, 2012, Pages 979-992

  Menéndez, Mireia ^a   Castellsagué, Joan ^a   Mirete, Marc ^a   Pros, Eva ^a   Feliubadaló, Lídia ^a   Osorio, Ana ^b   Calaf, Mónica ^a   Tornero, Eva ^a   Valle, Jesús Del ^a   Fernández Rodríguez, Juana ^a   Quiles, Francisco ^a   Salinas, Mónica ^a   Velasco, Angela ^a   Teulé, Alex ^a   Brunet, Joan ^a   Blanco, Ignacio ^a   Capellá, Gabriel ^a   Lázaro, Conxi ^a  

^a HOSPITAL DURAN I REYNALS   (Spain)

^b Structural Biology and Biocomputing Programme   (Spain)

Author keywords

BRCA; Hbocs; In silico prediction; Splicing mutation; VUS

Indexed keywords

MESSENGER RNA; BRCA1 PROTEIN; BRCA1 PROTEIN, HUMAN; BRCA2 PROTEIN; BRCA2 PROTEIN, HUMAN; ISOPROTEIN;

ARTICLE; BINDING SITE; CANCER FAMILY; CANCER SUSCEPTIBILITY; COMPUTER MODEL; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HETEROZYGOTE; HUMAN; HUMAN CELL; PATHOGENICITY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA SPLICING; RNA TRANSCRIPTION; SEQUENCE ANALYSIS; TUMOR SUPPRESSOR GENE; VARIANT OF UNKNOWN SIGNIFICANCE; ALTERNATIVE RNA SPLICING; BIOLOGICAL MODEL; COMPUTER SIMULATION; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE;

ALTERNATIVE SPLICING; BASE SEQUENCE; BRCA1 PROTEIN; BRCA2 PROTEIN; COMPUTER SIMULATION; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HUMANS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN ISOFORMS; RNA, MESSENGER; SEQUENCE ANALYSIS, RNA;

EID: 84865167245     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-011-1661-5     Document Type: Article

References (23)

1. Fackenthal JD, Cartegni L, Krainer AR, Olopade OI (2002) BRCA2 T2722R is a deleterious allele that causes exon skipping. Am J Hum Genet 71:625-631
2. Fackenthal JD, Olopade OI (2007) Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer 7:937-948
3. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62:676-689
4. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71
5. 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
6. Liu HX, Cartegni L, Zhang MQ, Krainer AR (2001) A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet 27:55-58
7. Mazoyer S, Puget N, Perrin-Vidoz L, Lynch HT, Serova-Sinilnikova OM, Lenoir GM (1998) A BRCA1 nonsense mutation causes exon skipping. Am J Hum Genet 62:713-715
8. Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
9. Ars E, Serra E, Garcia J, Kruyer H, Gaona A, Lazaro C, Estivill X (2000) Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet 9:237-247
10. Teraoka SN, Telatar M, Becker-Catania S, Liang T, Onengut S, Tolun A, Chessa L, Sanal O, Bernatowska E, Gatti RA et al (1999) Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am J Hum Genet 64:1617-1631
11. Zatkova A, Messiaen L, Vandenbroucke I, Wieser R, Fonatsch C, Krainer AR, Wimmer K (2004) Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. Hum Mutat 24:491-501
12. Vreeswijk MP, Kraan JN, van der Klift HM, Vink GR, Cornelisse CJ, Wijnen JT, Bakker E, van Asperen CJ, Devilee P (2009) Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs. Hum Mutat 30:107-114
13. Agata S, De Nicolo A, Chieco-Bianchi L, D'Andrea E, Menin C, Montagna M (2003) The BRCA2 sequence variant IVS19+1G →A leads to an aberrant transcript lacking exon 19. Cancer Genet Cytogenet 141:175-176
14. Brose MS, Volpe P, Paul K, Stopfer JE, Colligon TA, Calzone KA, Weber BL (2004) Characterization of two novel BRCA1 germ-line mutations involving splice donor sites. Genet Test 8:133-138
15. Claes K, Poppe B, Machackova E, Coene I, Foretova L, De Paepe A, Messiaen L (2003) Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2. Genes Chromosomes Cancer 37:314-320
16. Keaton JC, Nielsen DR, Hendrickson BC, Pyne MT, Scheuer L, Ward BE, Brothman AR, Scholl T (2003) A biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A→C is a mutation. J Hum Genet 48:399-403
17. Pyne MT, Brothman AR, Ward B, Pruss D, Hendrickson BC, Scholl T (2000) The BRCA2 genetic variant IVS7+2T→G is a mutation. J Hum Genet 45:351-357
18. Chen X, Truong TT, Weaver J, Bove BA, Cattie K, Armstrong BA, Daly MB, Godwin AK (2006) Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression. Hum Mutat 27:427-435
19. Sanz DJ, Acedo A, Infante M, Duran M, Perez-Cabornero L, Esteban-Cardenosa E, Lastra E, Pagani F, Miner C, Velasco EA (2010) A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. Clin Cancer Res 16(6):1957-1967
20. Vega A, Campos B, Bressac-De-Paillerets B, Bond PM, Janin N, Douglas FS, Domenech M, Baena M, Pericay C, Alonso C et al (2001) The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat 17:520-521
21. Hoffman JD, Hallam SE, Venne VL, Lyon E, Ward K (1998) Implications of a novel cryptic splice site in the BRCA1 gene. Am J Med Genet 80:140-144
22. Borg A, Haile RW, Malone KE, Capanu M, Diep A, Torngren T, Teraoka S, Begg CB, Thomas DC, Concannon P et al (2010) Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. Hum Mutat 31:E1200-E1240
23. Baralle D, Lucassen A, Buratti E (2009) Missed threads. The impact of pre-mRNA splicing defects on clinical practice. EMBO Rep 10:810-816