-
1
-
-
17344365851
-
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium
-
10.1086/301749, 1376944, 9497246, the Breast Cancer Linkage Consortium
-
Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Zelada-Hedman M, . the Breast Cancer Linkage Consortium Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998, 62:676-689. 10.1086/301749, 1376944, 9497246, the Breast Cancer Linkage Consortium.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 676-689
-
-
Ford, D.1
Easton, D.F.2
Stratton, M.3
Narod, S.4
Goldgar, D.5
Devilee, P.6
Bishop, D.T.7
Weber, B.8
Lenoir, G.9
Chang-Claude, J.10
Sobol, H.11
Teare, M.D.12
Struewing, J.13
Arason, A.14
Scherneck, S.15
Peto, J.16
Rebbeck, T.R.17
Tonin, P.18
Neuhausen, S.19
Barkardottir, R.20
Eyfjord, J.21
Lynch, H.22
Ponder, B.A.23
Gayther, S.A.24
Zelada-Hedman, M.25
more..
-
2
-
-
37549056200
-
The emerging landscape of breast cancer susceptibility
-
10.1038/ng.2007.53, 18163131
-
Stratton MR, Rahman N. The emerging landscape of breast cancer susceptibility. Nat Genet 2008, 40:17-22. 10.1038/ng.2007.53, 18163131.
-
(2008)
Nat Genet
, vol.40
, pp. 17-22
-
-
Stratton, M.R.1
Rahman, N.2
-
3
-
-
84871466818
-
The Breast Cancer Information Core Database
-
(Accessed June 2011)
-
The Breast Cancer Information Core Database. (Accessed June 2011)., http://research.nhgri.nih.gov/projects/bic
-
-
-
-
4
-
-
0035864827
-
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families
-
10.1093/hmg/10.4.353, 11157798
-
Vallon-Christersson J, Cayanan C, Haraldsson K, Loman N, Bergthorsson JT, Brondum-Nielsen K, Gerdes AM, Moller P, Kristoffersson U, Olsson H, Borg A, Monteiro AN. Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Hum Mol Genet 2001, 10:353-360. 10.1093/hmg/10.4.353, 11157798.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 353-360
-
-
Vallon-Christersson, J.1
Cayanan, C.2
Haraldsson, K.3
Loman, N.4
Bergthorsson, J.T.5
Brondum-Nielsen, K.6
Gerdes, A.M.7
Moller, P.8
Kristoffersson, U.9
Olsson, H.10
Borg, A.11
Monteiro, A.N.12
-
5
-
-
44849102450
-
Functional assays for classification of BRCA2 variants of uncertain significance
-
10.1158/0008-5472.CAN-07-1587, 2936780, 18451181
-
Farrugia DJ, Agarwal MK, Pankratz VS, Deffenbaugh AM, Pruss D, Frye C, Wadum L, Johnson K, Mentlick J, Tavtigian SV, Goldgar DE, Couch FJ. Functional assays for classification of BRCA2 variants of uncertain significance. Cancer Res 2008, 68:3523-3531. 10.1158/0008-5472.CAN-07-1587, 2936780, 18451181.
-
(2008)
Cancer Res
, vol.68
, pp. 3523-3531
-
-
Farrugia, D.J.1
Agarwal, M.K.2
Pankratz, V.S.3
Deffenbaugh, A.M.4
Pruss, D.5
Frye, C.6
Wadum, L.7
Johnson, K.8
Mentlick, J.9
Tavtigian, S.V.10
Goldgar, D.E.11
Couch, F.J.12
-
6
-
-
79551644558
-
Unclassified variants in BRCA genes: guidelines for interpretation
-
Radice P, De Summa S, Caleca L, Tommasi S. Unclassified variants in BRCA genes: guidelines for interpretation. Ann Oncol 2011, 22(Suppl 1):i18-i23.
-
(2011)
Ann Oncol
, vol.22
, Issue.SUPPL. 1
-
-
Radice, P.1
De Summa, S.2
Caleca, L.3
Tommasi, S.4
-
7
-
-
49149115625
-
Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2
-
10.1038/nm.1719, 2640324, 18607349
-
Kuznetsov SG, Liu P, Sharan SK. Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2. Nat Med 2008, 14:875-881. 10.1038/nm.1719, 2640324, 18607349.
-
(2008)
Nat Med
, vol.14
, pp. 875-881
-
-
Kuznetsov, S.G.1
Liu, P.2
Sharan, S.K.3
-
8
-
-
4544336084
-
Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2
-
10.1086/424388, 1182042, 15290653
-
Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet 2004, 75:535-544. 10.1086/424388, 1182042, 15290653.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 535-544
-
-
Goldgar, D.E.1
Easton, D.F.2
Deffenbaugh, A.M.3
Monteiro, A.N.4
Tavtigian, S.V.5
Couch, F.J.6
-
9
-
-
67549099652
-
A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history
-
10.1186/bcr2223, 2687711, 19200354
-
Gomez Garcia EB, Oosterwijk JC, Timmermans M, van Asperen CJ, Hogervorst FB, Hoogerbrugge N, Oldenburg R, Verhoef S, Dommering CJ, Ausems MG, van Os TA, van der Hout AH, Ligtenberg M, van den OA, van der Luijt RB, Wijnen JT, Gille JJ, Lindsey PJ, Devilee P, Blok MJ, Vreeswijk MP. A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history. Breast Cancer Res 2009, 11:R8. 10.1186/bcr2223, 2687711, 19200354.
-
(2009)
Breast Cancer Res
, vol.11
-
-
Gomez Garcia, E.B.1
Oosterwijk, J.C.2
Timmermans, M.3
van Asperen, C.J.4
Hogervorst, F.B.5
Hoogerbrugge, N.6
Oldenburg, R.7
Verhoef, S.8
Dommering, C.J.9
Ausems, M.G.10
van Os, T.A.11
van der Hout, A.H.12
Ligtenberg, M.13
van den, O.A.14
van der Luijt, R.B.15
Wijnen, J.T.16
Gille, J.J.17
Lindsey, P.J.18
Devilee, P.19
Blok, M.J.20
Vreeswijk, M.P.21
more..
-
10
-
-
34548758543
-
Splicing in disease: disruption of the splicing code and the decoding machinery
-
10.1038/nrg2164, 17726481
-
Wang GS, Cooper TA. Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet 2007, 8:749-761. 10.1038/nrg2164, 17726481.
-
(2007)
Nat Rev Genet
, vol.8
, pp. 749-761
-
-
Wang, G.S.1
Cooper, T.A.2
-
11
-
-
0036207384
-
Listening to silence and understanding nonsense: exonic mutations that affect splicing
-
10.1038/nrg775, 11967553
-
Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 2002, 3:285-298. 10.1038/nrg775, 11967553.
-
(2002)
Nat Rev Genet
, vol.3
, pp. 285-298
-
-
Cartegni, L.1
Chew, S.L.2
Krainer, A.R.3
-
12
-
-
15544379277
-
Are splicing mutations the most frequent cause of hereditary disease?
-
10.1016/j.febslet.2005.02.047, 15792793
-
Lopez-Bigas N, Audit B, Ouzounis C, Parra G, Guigo R. Are splicing mutations the most frequent cause of hereditary disease?. FEBS Lett 2005, 579:1900-1903. 10.1016/j.febslet.2005.02.047, 15792793.
-
(2005)
FEBS Lett
, vol.579
, pp. 1900-1903
-
-
Lopez-Bigas, N.1
Audit, B.2
Ouzounis, C.3
Parra, G.4
Guigo, R.5
-
13
-
-
0026794668
-
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences
-
Krawczak M, Reiss J, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 1992, 90:41-54.
-
(1992)
Hum Genet
, vol.90
, pp. 41-54
-
-
Krawczak, M.1
Reiss, J.2
Cooper, D.N.3
-
14
-
-
77949762254
-
A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients
-
10.1158/1078-0432.CCR-09-2564, 20215541
-
Sanz DJ, Acedo A, Infante M, Duran M, Perez-Cabornero L, Esteban-Cardenosa E, Lastra E, Pagani F, Miner C, Velasco EA. A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. Clin Cancer Res 2010, 16:1957-1967. 10.1158/1078-0432.CCR-09-2564, 20215541.
-
(2010)
Clin Cancer Res
, vol.16
, pp. 1957-1967
-
-
Sanz, D.J.1
Acedo, A.2
Infante, M.3
Duran, M.4
Perez-Cabornero, L.5
Esteban-Cardenosa, E.6
Lastra, E.7
Pagani, F.8
Miner, C.9
Velasco, E.A.10
-
15
-
-
0037899998
-
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12
-
10.1093/hmg/ddg131, 12719375
-
Pagani F, Stuani C, Tzetis M, Kanavakis E, Efthymiadou A, Doudounakis S, Casals T, Baralle FE. New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. Hum Mol Genet 2003, 12:1111-1120. 10.1093/hmg/ddg131, 12719375.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1111-1120
-
-
Pagani, F.1
Stuani, C.2
Tzetis, M.3
Kanavakis, E.4
Efthymiadou, A.5
Doudounakis, S.6
Casals, T.7
Baralle, F.E.8
-
16
-
-
80052598724
-
Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing
-
10.1007/s10549-011-1599-7, 21638052
-
Brandao RD, van Roozendaal K, Tserpelis D, Garcia EG, Blok MJ. Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing. Breast Cancer Res Treat 2011, 129:971-982. 10.1007/s10549-011-1599-7, 21638052.
-
(2011)
Breast Cancer Res Treat
, vol.129
, pp. 971-982
-
-
Brandao, R.D.1
van Roozendaal, K.2
Tserpelis, D.3
Garcia, E.G.4
Blok, M.J.5
-
17
-
-
84865167245
-
Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes
-
10.1007/s10549-011-1661-5, 21735045
-
Menendez M, Castellsague J, Mirete M, Pros E, Feliubadalo L, Osorio A, Calaf M, Tornero E, Del Valle J, Fernandez-Rodriguez J, Quiles F, Salinas M, Velasco A, Teule A, Brunet J, Blanco I, Capella G, Lazaro C. Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes. Breast Cancer Res Treat 2012, 132:979-992. 10.1007/s10549-011-1661-5, 21735045.
-
(2012)
Breast Cancer Res Treat
, vol.132
, pp. 979-992
-
-
Menendez, M.1
Castellsague, J.2
Mirete, M.3
Pros, E.4
Feliubadalo, L.5
Osorio, A.6
Calaf, M.7
Tornero, E.8
Del Valle, J.9
Fernandez-Rodriguez, J.10
Quiles, F.11
Salinas, M.12
Velasco, A.13
Teule, A.14
Brunet, J.15
Blanco, I.16
Capella, G.17
Lazaro, C.18
-
18
-
-
47149083097
-
Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene
-
10.1136/jmg.2007.056895, 18424508
-
Bonnet C, Krieger S, Vezain M, Rousselin A, Tournier I, Martins A, Berthet P, Chevrier A, Dugast C, Layet V, Rossi A, Lidereau R, Frebourg T, Hardouin A, Tosi M. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene. J Med Genet 2008, 45:438-446. 10.1136/jmg.2007.056895, 18424508.
-
(2008)
J Med Genet
, vol.45
, pp. 438-446
-
-
Bonnet, C.1
Krieger, S.2
Vezain, M.3
Rousselin, A.4
Tournier, I.5
Martins, A.6
Berthet, P.7
Chevrier, A.8
Dugast, C.9
Layet, V.10
Rossi, A.11
Lidereau, R.12
Frebourg, T.13
Hardouin, A.14
Tosi, M.15
-
19
-
-
80053052971
-
Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes
-
10.1038/ejhg.2011.100, 21673748
-
Thery JC, Krieger S, Gaildrat P, Revillion F, Buisine MP, Killian A, Duponchel C, Rousselin A, Vaur D, Peyrat JP, Berthet P, Frebourg T, Martins A, Hardouin A, Tosi M. Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes. Eur J Hum Genet 2011, 19:1052-1058. 10.1038/ejhg.2011.100, 21673748.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 1052-1058
-
-
Thery, J.C.1
Krieger, S.2
Gaildrat, P.3
Revillion, F.4
Buisine, M.P.5
Killian, A.6
Duponchel, C.7
Rousselin, A.8
Vaur, D.9
Peyrat, J.P.10
Berthet, P.11
Frebourg, T.12
Martins, A.13
Hardouin, A.14
Tosi, M.15
-
20
-
-
84863868894
-
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members
-
10.1007/s10549-011-1674-0, 21769658
-
Thomassen M, Blanco A, Montagna M, Hansen TV, Pedersen IS, Gutierrez-Enriquez S, Menendez M, Fachal L, Santamarina M, Steffensen AY, Jonson L, Agata S, Whiley P, Tognazzo S, Tornero E, Jensen UB, Balmana J, Kruse TA, Goldgar DE, Lazaro C, Diez O, Spurdle AB, Vega A. Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members. Breast Cancer Res Treat 2012, 132:1009-1023. 10.1007/s10549-011-1674-0, 21769658.
-
(2012)
Breast Cancer Res Treat
, vol.132
, pp. 1009-1023
-
-
Thomassen, M.1
Blanco, A.2
Montagna, M.3
Hansen, T.V.4
Pedersen, I.S.5
Gutierrez-Enriquez, S.6
Menendez, M.7
Fachal, L.8
Santamarina, M.9
Steffensen, A.Y.10
Jonson, L.11
Agata, S.12
Whiley, P.13
Tognazzo, S.14
Tornero, E.15
Jensen, U.B.16
Balmana, J.17
Kruse, T.A.18
Goldgar, D.E.19
Lazaro, C.20
Diez, O.21
Spurdle, A.B.22
Vega, A.23
more..
-
21
-
-
68249121529
-
Missed threads. The impact of pre-mRNA splicing defects on clinical practice
-
10.1038/embor.2009.170, 2726684, 19648957
-
Baralle D, Lucassen A, Buratti E. Missed threads. The impact of pre-mRNA splicing defects on clinical practice. EMBO Rep 2009, 10:810-816. 10.1038/embor.2009.170, 2726684, 19648957.
-
(2009)
EMBO Rep
, vol.10
, pp. 810-816
-
-
Baralle, D.1
Lucassen, A.2
Buratti, E.3
-
22
-
-
27944439248
-
Use of minigene systems to dissect alternative splicing elements
-
10.1016/j.ymeth.2005.07.015, 16314262
-
Cooper TA. Use of minigene systems to dissect alternative splicing elements. Methods 2005, 37:331-340. 10.1016/j.ymeth.2005.07.015, 16314262.
-
(2005)
Methods
, vol.37
, pp. 331-340
-
-
Cooper, T.A.1
-
23
-
-
33745910586
-
High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-Leon (central Spain)
-
10.1007/s10038-006-0404-7, 16758124
-
Infante M, Duran M, Esteban-Cardenosa E, Miner C, Velasco E. High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-Leon (central Spain). J Hum Genet 2006, 51:611-617. 10.1007/s10038-006-0404-7, 16758124.
-
(2006)
J Hum Genet
, vol.51
, pp. 611-617
-
-
Infante, M.1
Duran, M.2
Esteban-Cardenosa, E.3
Miner, C.4
Velasco, E.5
-
24
-
-
0742287010
-
High-throughput mutation detection method to scan BRCA1 and BRCA2 based on heteroduplex analysis by capillary array electrophoresis
-
10.1373/clinchem.2003.023614, 14684619
-
Esteban-Cardenosa E, Duran M, Infante M, Velasco E, Miner C. High-throughput mutation detection method to scan BRCA1 and BRCA2 based on heteroduplex analysis by capillary array electrophoresis. Clin Chem 2004, 50:313-320. 10.1373/clinchem.2003.023614, 14684619.
-
(2004)
Clin Chem
, vol.50
, pp. 313-320
-
-
Esteban-Cardenosa, E.1
Duran, M.2
Infante, M.3
Velasco, E.4
Miner, C.5
-
25
-
-
34250782433
-
Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes
-
Velasco E, Infante M, Duran M, Perez-Cabornero L, Sanz DJ, Esteban-Cardenosa E, Miner C. Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes. Nat Protoc 2007, 2:237-246.
-
(2007)
Nat Protoc
, vol.2
, pp. 237-246
-
-
Velasco, E.1
Infante, M.2
Duran, M.3
Perez-Cabornero, L.4
Sanz, D.J.5
Esteban-Cardenosa, E.6
Miner, C.7
-
26
-
-
84862232279
-
Guidelines for mutation nomenclature
-
(Accessed September 2011), Human Genome Variation Society
-
Human Genome Variation Society Guidelines for mutation nomenclature. (Accessed September 2011), Human Genome Variation Society., http://www.hgvs.org/rec.html
-
-
-
-
27
-
-
0030787520
-
Improved splice site detection in Genie
-
10.1089/cmb.1997.4.311, 9278062
-
Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J Comput Biol 1997, 4:311-323. 10.1089/cmb.1997.4.311, 9278062.
-
(1997)
J Comput Biol
, vol.4
, pp. 311-323
-
-
Reese, M.G.1
Eeckman, F.H.2
Kulp, D.3
Haussler, D.4
-
28
-
-
66249120367
-
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
-
10.1093/nar/gkp215, 2685110, 19339519
-
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. 10.1093/nar/gkp215, 2685110, 19339519.
-
(2009)
Nucleic Acids Res
, vol.37
-
-
Desmet, F.O.1
Hamroun, D.2
Lalande, M.3
Collod-Beroud, G.4
Claustres, M.5
Beroud, C.6
-
29
-
-
34447620058
-
Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms
-
10.1186/bcr1324, 1410749, 16280041
-
Pettigrew C, Wayte N, Lovelock PK, Tavtigian SV, Chenevix-Trench G, Spurdle AB, Brown MA. Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms. Breast Cancer Res 2005, 7:R929-R939. 10.1186/bcr1324, 1410749, 16280041.
-
(2005)
Breast Cancer Res
, vol.7
-
-
Pettigrew, C.1
Wayte, N.2
Lovelock, P.K.3
Tavtigian, S.V.4
Chenevix-Trench, G.5
Spurdle, A.B.6
Brown, M.A.7
-
30
-
-
36448991500
-
Clustal W and Clustal X version 2.0
-
10.1093/bioinformatics/btm404, 17846036
-
Larkin MA, Blackshields G, Brown NP, Chenna R, McGettigan PA, McWilliam H, Valentin F, Wallace IM, Wilm A, Lopez R, Thompson JD, Gibson TJ, Higgins DG. Clustal W and Clustal X version 2.0. Bioinformatics 2007, 23:2947-2948. 10.1093/bioinformatics/btm404, 17846036.
-
(2007)
Bioinformatics
, vol.23
, pp. 2947-2948
-
-
Larkin, M.A.1
Blackshields, G.2
Brown, N.P.3
Chenna, R.4
McGettigan, P.A.5
McWilliam, H.6
Valentin, F.7
Wallace, I.M.8
Wilm, A.9
Lopez, R.10
Thompson, J.D.11
Gibson, T.J.12
Higgins, D.G.13
-
31
-
-
0025129726
-
Isolation and characterization of a spontaneously immortalized human breast epithelial cell line, MCF-10
-
Soule HD, Maloney TM, Wolman SR, Peterson WD, Brenz R, McGrath CM, Russo J, Pauley RJ, Jones RF, Brooks SC. Isolation and characterization of a spontaneously immortalized human breast epithelial cell line, MCF-10. Cancer Res 1990, 50:6075-6086.
-
(1990)
Cancer Res
, vol.50
, pp. 6075-6086
-
-
Soule, H.D.1
Maloney, T.M.2
Wolman, S.R.3
Peterson, W.D.4
Brenz, R.5
McGrath, C.M.6
Russo, J.7
Pauley, R.J.8
Jones, R.F.9
Brooks, S.C.10
-
32
-
-
84862220019
-
PCR mutagenesis
-
(Accessed January 2010), METHODBOOK
-
METHODBOOK PCR mutagenesis. (Accessed January 2010), METHODBOOK., http://www.methodbook.net/pcr/pcrmut.html
-
-
-
-
33
-
-
18444362122
-
Biallelic inactivation of BRCA2 in Fanconi anemia
-
10.1126/science.1073834, 12065746
-
Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, Persky N, Grompe M, Joenje H, Pals G, Ikeda H, Fox EA, D'Andrea AD. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002, 297:606-9. 10.1126/science.1073834, 12065746.
-
(2002)
Science
, vol.297
, pp. 606-609
-
-
Howlett, N.G.1
Taniguchi, T.2
Olson, S.3
Cox, B.4
Waisfisz, Q.5
De Die-Smulders, C.6
Persky, N.7
Grompe, M.8
Joenje, H.9
Pals, G.10
Ikeda, H.11
Fox, E.A.12
D'Andrea, A.D.13
-
34
-
-
33746855164
-
Defective splicing, disease and therapy: searching for master checkpoints in exon definition
-
10.1093/nar/gkl498, 1524908, 16855287
-
Buratti E, Baralle M, Baralle FE. Defective splicing, disease and therapy: searching for master checkpoints in exon definition. Nucleic Acids Res 2006, 34:3494-3510. 10.1093/nar/gkl498, 1524908, 16855287.
-
(2006)
Nucleic Acids Res
, vol.34
, pp. 3494-3510
-
-
Buratti, E.1
Baralle, M.2
Baralle, F.E.3
-
35
-
-
5044222204
-
How did alternative splicing evolve?
-
Ast G. How did alternative splicing evolve?. Nat Rev Genet 2004, 5:773-782.
-
(2004)
Nat Rev Genet
, vol.5
, pp. 773-782
-
-
Ast, G.1
-
36
-
-
37349089805
-
Insights into the connection between cancer and alternative splicing
-
10.1016/j.tig.2007.10.001, 18054115
-
Kim E, Goren A, Ast G. Insights into the connection between cancer and alternative splicing. Trends Genet 2008, 24:7-10. 10.1016/j.tig.2007.10.001, 18054115.
-
(2008)
Trends Genet
, vol.24
, pp. 7-10
-
-
Kim, E.1
Goren, A.2
Ast, G.3
-
37
-
-
14544285454
-
Intron retention: a common splicing event within the human kallikrein gene family
-
10.1373/clinchem.2004.042341, 15650036
-
Michael IP, Kurlender L, Memari N, Yousef GM, Du D, Grass L, Stephan C, Jung K, Diamandis EP. Intron retention: a common splicing event within the human kallikrein gene family. Clin Chem 2005, 51:506-515. 10.1373/clinchem.2004.042341, 15650036.
-
(2005)
Clin Chem
, vol.51
, pp. 506-515
-
-
Michael, I.P.1
Kurlender, L.2
Memari, N.3
Yousef, G.M.4
Du, D.5
Grass, L.6
Stephan, C.7
Jung, K.8
Diamandis, E.P.9
-
38
-
-
84862164386
-
Alignment of the BRCA2 protein (12 species)
-
(Accessed September 2011), The International Agency for Research on Cancer (IARC)
-
The International Agency for Research on Cancer (IARC) Alignment of the BRCA2 protein (12 species). (Accessed September 2011), The International Agency for Research on Cancer (IARC)., http://agvgd.iarc.fr/BRCA2_Align.htm
-
-
-
-
39
-
-
73049103397
-
BRCA1 5272-1G > A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin
-
10.1111/j.1399-0004.2009.01272.x, 19912264
-
Infante M, Duran M, Acedo A, Perez-Cabornero L, Sanz DJ, Garcia-Gonzalez M, Beristain E, Esteban-Cardenosa E, de la Hoya M, Teule A, Vega A, Tejada MI, Lastra E, Miner C, Velasco EA. BRCA1 5272-1G > A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin. Clin Genet 2010, 77:60-69. 10.1111/j.1399-0004.2009.01272.x, 19912264.
-
(2010)
Clin Genet
, vol.77
, pp. 60-69
-
-
Infante, M.1
Duran, M.2
Acedo, A.3
Perez-Cabornero, L.4
Sanz, D.J.5
Garcia-Gonzalez, M.6
Beristain, E.7
Esteban-Cardenosa, E.8
de la Hoya, M.9
Teule, A.10
Vega, A.11
Tejada, M.I.12
Lastra, E.13
Miner, C.14
Velasco, E.A.15
-
40
-
-
44449115151
-
RNA landscape of evolution for optimal exon and intron discrimination
-
10.1073/pnas.0801692105, 2311341, 18391195
-
Zhang C, Li WH, Krainer AR, Zhang MQ. RNA landscape of evolution for optimal exon and intron discrimination. Proc Natl Acad Sci USA 2008, 105:5797-5802. 10.1073/pnas.0801692105, 2311341, 18391195.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 5797-5802
-
-
Zhang, C.1
Li, W.H.2
Krainer, A.R.3
Zhang, M.Q.4
-
41
-
-
79957603664
-
Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary
-
10.1002/humu.21495, 21394826
-
Whiley PJ, Guidugli L, Walker LC, Healey S, Thompson BA, Lakhani SR, Da Silva LM, Tavtigian SV, Goldgar DE, Brown MA, Couch FJ, Spurdle AB. Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Hum Mutat 2011, 32:678-687. 10.1002/humu.21495, 21394826.
-
(2011)
Hum Mutat
, vol.32
, pp. 678-687
-
-
Whiley, P.J.1
Guidugli, L.2
Walker, L.C.3
Healey, S.4
Thompson, B.A.5
Lakhani, S.R.6
Da Silva, L.M.7
Tavtigian, S.V.8
Goldgar, D.E.9
Brown, M.A.10
Couch, F.J.11
Spurdle, A.B.12
-
42
-
-
78449232308
-
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier
-
Hinzpeter A, Aissat A, Sondo E, Costa C, Arous N, Gameiro C, Martin N, Tarze A, Weiss L, de Becdelievre A, Costes B, Goossens M, Galietta LJ, Girodon E, Fanen P. Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier. PLoS Genet 2010, 6:e100153.
-
(2010)
PLoS Genet
, vol.6
-
-
Hinzpeter, A.1
Aissat, A.2
Sondo, E.3
Costa, C.4
Arous, N.5
Gameiro, C.6
Martin, N.7
Tarze, A.8
Weiss, L.9
de Becdelievre, A.10
Costes, B.11
Goossens, M.12
Galietta, L.J.13
Girodon, E.14
Fanen, P.15
-
43
-
-
0036848138
-
The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons
-
10.1093/hmg/11.23.2805, 12393792
-
Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D, Lenoir GM, Mazoyer S. The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. Hum Mol Genet 2002, 11:2805-2814. 10.1093/hmg/11.23.2805, 12393792.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2805-2814
-
-
Perrin-Vidoz, L.1
Sinilnikova, O.M.2
Stoppa-Lyonnet, D.3
Lenoir, G.M.4
Mazoyer, S.5
-
44
-
-
77950689335
-
The c.5242C > A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding
-
10.1007/s10549-009-0392-3, 19404736
-
Millevoi S, Bernat S, Telly D, Fouque F, Gladieff L, Favre G, Vagner S, Toulas C. The c.5242C > A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding. Breast Cancer Res Treat 2010, 120:391-399. 10.1007/s10549-009-0392-3, 19404736.
-
(2010)
Breast Cancer Res Treat
, vol.120
, pp. 391-399
-
-
Millevoi, S.1
Bernat, S.2
Telly, D.3
Fouque, F.4
Gladieff, L.5
Favre, G.6
Vagner, S.7
Toulas, C.8
-
45
-
-
77952725403
-
Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts
-
2897790, 20507642
-
Whiley PJ, Pettigrew CA, Brewster BL, Walker LC, Spurdle AB, Brown MA. Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts. BMC Med Genet 2010, 11:80. 2897790, 20507642.
-
(2010)
BMC Med Genet
, vol.11
, pp. 80
-
-
Whiley, P.J.1
Pettigrew, C.A.2
Brewster, B.L.3
Walker, L.C.4
Spurdle, A.B.5
Brown, M.A.6
-
46
-
-
38349127601
-
Combinatorial control of exon recognition
-
Hertel KJ. Combinatorial control of exon recognition. J Biol Chem 2008, 283:1211-1215.
-
(2008)
J Biol Chem
, vol.283
, pp. 1211-1215
-
-
Hertel, K.J.1
-
47
-
-
44349135730
-
Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant
-
10.1128/MCB.02253-07, 2423284, 18391021
-
Goina E, Skoko N, Pagani F. Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant. Mol Cell Biol 2008, 28:3850-3860. 10.1128/MCB.02253-07, 2423284, 18391021.
-
(2008)
Mol Cell Biol
, vol.28
, pp. 3850-3860
-
-
Goina, E.1
Skoko, N.2
Pagani, F.3
-
48
-
-
3442898752
-
The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles
-
10.1002/humu.20064, 15241793
-
Steiner B, Truninger K, Sanz J, Schaller A, Gallati S. The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles. Hum Mutat 2004, 24:120-129. 10.1002/humu.20064, 15241793.
-
(2004)
Hum Mutat
, vol.24
, pp. 120-129
-
-
Steiner, B.1
Truninger, K.2
Sanz, J.3
Schaller, A.4
Gallati, S.5
-
49
-
-
77953707792
-
The BRCA1 c.5434C- v G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements
-
10.1136/jmg.2009.074047, 20522429
-
Gaildrat P, Krieger S, Thery JC, Killian A, Rousselin A, Berthet P, Frebourg T, Hardouin A, Martins A, Tosi M. The BRCA1 c.5434C- > G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements. J Med Genet 2010, 47:398-403. 10.1136/jmg.2009.074047, 20522429.
-
(2010)
J Med Genet
, vol.47
, pp. 398-403
-
-
Gaildrat, P.1
Krieger, S.2
Thery, J.C.3
Killian, A.4
Rousselin, A.5
Berthet, P.6
Frebourg, T.7
Hardouin, A.8
Martins, A.9
Tosi, M.10
-
50
-
-
52049095304
-
The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain
-
10.1158/1078-0432.CCR-07-4436, 18451254
-
Milne RL, Osorio A, Cajal TR, Vega A, Llort G, de la Hoya M, Diez O, Alonso MC, Lazaro C, Blanco I, Sanchez-de-Abajo A, Caldes T, Blanco A, Grana B, Duran M, Velasco E, Chirivella I, Cardenosa EE, Tejada MI, Beristain E, Miramar MD, Calvo MT, Martinez E, Guillen C, Salazar R, San RC, Antoniou AC, Urioste M, Benitez J. The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain. Clin Cancer Res 2008, 14:2861-2869. 10.1158/1078-0432.CCR-07-4436, 18451254.
-
(2008)
Clin Cancer Res
, vol.14
, pp. 2861-2869
-
-
Milne, R.L.1
Osorio, A.2
Cajal, T.R.3
Vega, A.4
Llort, G.5
de la Hoya, M.6
Diez, O.7
Alonso, M.C.8
Lazaro, C.9
Blanco, I.10
Sanchez-de-Abajo, A.11
Caldes, T.12
Blanco, A.13
Grana, B.14
Duran, M.15
Velasco, E.16
Chirivella, I.17
Cardenosa, E.E.18
Tejada, M.I.19
Beristain, E.20
Miramar, M.D.21
Calvo, M.T.22
Martinez, E.23
Guillen, C.24
Salazar, R.25
San, R.C.26
Antoniou, A.C.27
Urioste, M.28
Benitez, J.29
more..
-
51
-
-
35348834779
-
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
-
10.1086/521032, 2265654, 17924331
-
Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet 2007, 81:873-883. 10.1086/521032, 2265654, 17924331.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 873-883
-
-
Easton, D.F.1
Deffenbaugh, A.M.2
Pruss, D.3
Frye, C.4
Wenstrup, R.J.5
Allen-Brady, K.6
Tavtigian, S.V.7
Monteiro, A.N.8
Iversen, E.S.9
Couch, F.J.10
Goldgar, D.E.11
-
52
-
-
73449096806
-
Alternative splicing and molecular characterization of splice site variants: BRCA1 c.591C > T as a case study
-
10.1373/clinchem.2009.132274, 19892845
-
Dosil V, Tosar A, Canadas C, Perez-Segura P, Diaz-Rubio E, Caldes T, de la Hoya M. Alternative splicing and molecular characterization of splice site variants: BRCA1 c.591C > T as a case study. Clin Chem 2010, 56:53-61. 10.1373/clinchem.2009.132274, 19892845.
-
(2010)
Clin Chem
, vol.56
, pp. 53-61
-
-
Dosil, V.1
Tosar, A.2
Canadas, C.3
Perez-Segura, P.4
Diaz-Rubio, E.5
Caldes, T.6
de la Hoya, M.7
|