-
1
-
-
37549056200
-
The emerging landscape of breast cancer susceptibility
-
Stratton MR, Rahman N, (2008) The emerging landscape of breast cancer susceptibility. Nat Genet 40: 17-22.
-
(2008)
Nat Genet
, vol.40
, pp. 17-22
-
-
Stratton, M.R.1
Rahman, N.2
-
2
-
-
77953872952
-
Genetic susceptibility to breast cancer
-
Mavaddat N, Antoniou AC, Easton DF, Garcia-Closas M, (2010) Genetic susceptibility to breast cancer. Mol Oncol 4: 174-91.
-
(2010)
Mol Oncol
, vol.4
, pp. 174-191
-
-
Mavaddat, N.1
Antoniou, A.C.2
Easton, D.F.3
Garcia-Closas, M.4
-
3
-
-
0038744296
-
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies
-
Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, et al. (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72: 1117-30.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1117-1130
-
-
Antoniou, A.1
Pharoah, P.D.2
Narod, S.3
Risch, H.A.4
Eyfjord, J.E.5
-
4
-
-
0036848138
-
The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons
-
Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D, Lenoir GM, Mazoyer S, (2002) The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. Hum Mol Genet 11: 2805-14.
-
(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
-
5
-
-
77953614990
-
Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models
-
Spurdle AB, (2010) Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models. Curr Opin Genet Dev 20: 315-23.
-
(2010)
Curr Opin Genet Dev
, vol.20
, pp. 315-323
-
-
Spurdle, A.B.1
-
6
-
-
84865181731
-
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)
-
Lindor NM, Guidugli L, Wang X, Vallee MP, Monteiro AN, et al. (2012) A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). Hum Mutat 33: 8-21.
-
(2012)
Hum Mutat
, vol.33
, pp. 8-21
-
-
Lindor, N.M.1
Guidugli, L.2
Wang, X.3
Vallee, M.P.4
Monteiro, A.N.5
-
7
-
-
35348834779
-
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
-
Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, et al. (2007) 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 81: 873-83.
-
(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
-
8
-
-
2142744874
-
RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain
-
Campos B, Diez O, Domenech M, Baena M, Balmana J, et al. (2003) RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain. Hum Mutat 22: 337.
-
(2003)
Hum Mutat
, vol.22
, pp. 337
-
-
Campos, B.1
Diez, O.2
Domenech, M.3
Baena, M.4
Balmana, J.5
-
9
-
-
0038207961
-
Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2
-
Claes K, Poppe B, Machackova E, Coene I, Foretova L, et al. (2003) Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2. Genes Chromosomes Cancer 37: 314-20.
-
(2003)
Genes Chromosomes Cancer
, vol.37
, pp. 314-320
-
-
Claes, K.1
Poppe, B.2
Machackova, E.3
Coene, I.4
Foretova, L.5
-
10
-
-
33644529562
-
Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families
-
Tesoriero AA, Wong EM, Jenkins MA, Hopper JL, Brown MA, et al. (2005) Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families. Hum Mutat 26: 495.
-
(2005)
Hum Mutat
, vol.26
, pp. 495
-
-
Tesoriero, A.A.1
Wong, E.M.2
Jenkins, M.A.3
Hopper, J.L.4
Brown, M.A.5
-
11
-
-
33748970037
-
RNA-based analysis of BRCA1 and BRCA2 gene alterations
-
Bonatti F, Pepe C, Tancredi M, Lombardi G, Aretini P, et al. (2006) RNA-based analysis of BRCA1 and BRCA2 gene alterations. Cancer Genet Cytogenet 170: 93-101.
-
(2006)
Cancer Genet Cytogenet
, vol.170
, pp. 93-101
-
-
Bonatti, F.1
Pepe, C.2
Tancredi, M.3
Lombardi, G.4
Aretini, P.5
-
12
-
-
33646365369
-
Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression
-
Chen X, Truong TT, Weaver J, Bove BA, Cattie K, et al. (2006) Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression. Hum Mutat 27: 427-35.
-
(2006)
Hum Mutat
, vol.27
, pp. 427-435
-
-
Chen, X.1
Truong, T.T.2
Weaver, J.3
Bove, B.A.4
Cattie, K.5
-
13
-
-
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
-
Bonnet C, Krieger S, Vezain M, Rousselin A, Tournier I, et al. (2008) 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 45: 438-46.
-
(2008)
J Med Genet
, vol.45
, pp. 438-446
-
-
Bonnet, C.1
Krieger, S.2
Vezain, M.3
Rousselin, A.4
Tournier, I.5
-
14
-
-
58349088957
-
Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs
-
Vreeswijk MP, Kraan JN, van der Klift HM, Vink GR, Cornelisse CJ, et al. (2009) Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs. Hum Mutat 30: 107-14.
-
(2009)
Hum Mutat
, vol.30
, pp. 107-114
-
-
Vreeswijk, M.P.1
Kraan, J.N.2
van der Klift, H.M.3
Vink, G.R.4
Cornelisse, C.J.5
-
15
-
-
77949762254
-
A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients
-
Sanz DJ, Acedo A, Infante M, Duran M, Perez-Cabornero L, et al. (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: 1957-67.
-
(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
-
16
-
-
80053052971
-
Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes
-
Thery JC, Krieger S, Gaildrat P, Revillion F, Buisine MP, et al. (2011) Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes. Eur J Hum Genet 19: 1052-8.
-
(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
-
17
-
-
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
-
Whiley PJ, Guidugli L, Walker LC, Healey S, Thompson BA, et al. (2011) 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 32: 678-87.
-
(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
-
18
-
-
84861391312
-
Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes
-
Acedo A, Sanz DJ, Duran M, Infante M, Perez-Cabornero L, et al. (2012) Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes. Breast Cancer Res 14: R87.
-
(2012)
Breast Cancer Res
, vol.14
-
-
Acedo, A.1
Sanz, D.J.2
Duran, M.3
Infante, M.4
Perez-Cabornero, L.5
-
19
-
-
84870293904
-
Multiple sequence variants of BRCA2 exon 7 alter splicing regulation
-
Gaildrat P, Krieger S, Di GD, Abdat J, Revillion F, et al. (2012) Multiple sequence variants of BRCA2 exon 7 alter splicing regulation. J Med Genet 49: 609-17.
-
(2012)
J Med Genet
, vol.49
, pp. 609-617
-
-
Gaildrat, P.1
Krieger, S.2
Di, G.D.3
Abdat, J.4
Revillion, F.5
-
20
-
-
84865167245
-
Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes
-
Menendez M, Castellsague J, Mirete M, Pros E, Feliubadalo L, et al. (2012) Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes. Breast Cancer Res Treat 132: 979-92.
-
(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
-
21
-
-
84863868894
-
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members
-
Thomassen M, Blanco A, Montagna M, Hansen TV, Pedersen IS, et al. (2012) Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members. Breast Cancer Res Treat 132: 1009-23.
-
(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
-
22
-
-
84863873006
-
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants
-
Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, et al. (2012) 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 33: 1228-38.
-
(2012)
Hum Mutat
, vol.33
, pp. 1228-1238
-
-
Houdayer, C.1
Caux-Moncoutier, V.2
Krieger, S.3
Barrois, M.4
Bonnet, F.5
-
23
-
-
55549124905
-
Prediction and assessment of splicing alterations: implications for clinical testing
-
Spurdle AB, Couch FJ, Hogervorst FB, Radice P, Sinilnikova OM, (2008) Prediction and assessment of splicing alterations: implications for clinical testing. Hum Mutat 29: 1304-13.
-
(2008)
Hum Mutat
, vol.29
, pp. 1304-1313
-
-
Spurdle, A.B.1
Couch, F.J.2
Hogervorst, F.B.3
Radice, P.4
Sinilnikova, O.M.5
-
24
-
-
16644372812
-
RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1
-
Sharp A, Pichert G, Lucassen A, Eccles D, (2004) RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1. Hum Mutat 24: 272.
-
(2004)
Hum Mutat
, vol.24
, pp. 272
-
-
Sharp, A.1
Pichert, G.2
Lucassen, A.3
Eccles, D.4
-
25
-
-
77952678915
-
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity
-
Walker LC, Whiley PJ, Couch FJ, Farrugia DJ, Healey S, et al. (2010) Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity. Hum Mutat 31: E1484-E1505.
-
(2010)
Hum Mutat
, vol.31
-
-
Walker, L.C.1
Whiley, P.J.2
Couch, F.J.3
Farrugia, D.J.4
Healey, S.5
-
26
-
-
80052598724
-
Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing
-
Brandao RD, van RK, Tserpelis D, Garcia EG, Blok MJ, (2011) Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing. Breast Cancer Res Treat 129: 971-82.
-
(2011)
Breast Cancer Res Treat
, vol.129
, pp. 971-982
-
-
Brandao, R.D.1
Van, R.K.2
Tserpelis, D.3
Garcia, E.G.4
Blok, M.J.5
-
27
-
-
79959693666
-
Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants
-
Mucaki EJ, Ainsworth P, Rogan PK, (2011) Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants. Hum Mutat 32: 735-42.
-
(2011)
Hum Mutat
, vol.32
, pp. 735-742
-
-
Mucaki, E.J.1
Ainsworth, P.2
Rogan, P.K.3
-
28
-
-
33846581859
-
Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families
-
Manoukian S, Peissel B, Pensotti V, Barile M, Cortesi L, et al. (2007) Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families. Eur J Cancer 43: 601-6.
-
(2007)
Eur J Cancer
, vol.43
, pp. 601-606
-
-
Manoukian, S.1
Peissel, B.2
Pensotti, V.3
Barile, M.4
Cortesi, L.5
-
29
-
-
0036207384
-
Listening to silence and understanding nonsense: exonic mutations that affect splicing
-
Cartegni L, Chew SL, Krainer AR, (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3: 285-98.
-
(2002)
Nat Rev Genet
, vol.3
, pp. 285-298
-
-
Cartegni, L.1
Chew, S.L.2
Krainer, A.R.3
-
30
-
-
0026021882
-
Identification of cellular proteins that can interact specifically with the T/E1A-binding region of the retinoblastoma gene product
-
Kaelin WG Jr, Pallas DC, DeCaprio JA, Kaye FJ, Livingston DM, (1991) Identification of cellular proteins that can interact specifically with the T/E1A-binding region of the retinoblastoma gene product. Cell 64: 521-32.
-
(1991)
Cell
, vol.64
, pp. 521-532
-
-
Kaelin Jr., W.G.1
Pallas, D.C.2
DeCaprio, J.A.3
Kaye, F.J.4
Livingston, D.M.5
-
31
-
-
79960918627
-
In silico prediction of splice-affecting nucleotide variants
-
Houdayer C, (2011) In silico prediction of splice-affecting nucleotide variants. Methods Mol Biol 760: 269-81.
-
(2011)
Methods Mol Biol
, vol.760
, pp. 269-281
-
-
Houdayer, C.1
-
32
-
-
0023651307
-
RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression
-
Shapiro MB, Senapathy P, (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15: 7155-74.
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 7155-7174
-
-
Shapiro, M.B.1
Senapathy, P.2
-
33
-
-
2442441507
-
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
-
Yeo G, Burge CB, (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11: 377-94.
-
(2004)
J Comput Biol
, vol.11
, pp. 377-394
-
-
Yeo, G.1
Burge, C.B.2
-
34
-
-
0030787520
-
Improved splice site detection in Genie
-
Reese MG, Eeckman FH, Kulp D, Haussler D, (1997) Improved splice site detection in Genie. J Comput Biol 4: 311-23.
-
(1997)
J Comput Biol
, vol.4
, pp. 311-323
-
-
Reese, M.G.1
Eeckman, F.H.2
Kulp, D.3
Haussler, D.4
-
35
-
-
0035282695
-
GeneSplicer: a new computational method for splice site prediction
-
Pertea M, Lin X, Salzberg SL, (2001) GeneSplicer: a new computational method for splice site prediction. Nucleic Acids Res 29: 1185-90.
-
(2001)
Nucleic Acids Res
, vol.29
, pp. 1185-1190
-
-
Pertea, M.1
Lin, X.2
Salzberg, S.L.3
-
36
-
-
66249120367
-
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
-
Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, et al. (2009) Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37: e67.
-
(2009)
Nucleic Acids Res
, vol.37
-
-
Desmet, F.O.1
Hamroun, D.2
Lalande, M.3
Collod-Beroud, G.4
Claustres, M.5
-
37
-
-
0025744474
-
Prediction of human mRNA donor and acceptor sites from the DNA sequence
-
Brunak S, Engelbrecht J, Knudsen S, (1991) Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 220: 49-65.
-
(1991)
J Mol Biol
, vol.220
, pp. 49-65
-
-
Brunak, S.1
Engelbrecht, J.2
Knudsen, S.3
-
38
-
-
0029791403
-
Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information
-
Hebsgaard SM, Korning PG, Tolstrup N, Engelbrecht J, Rouze P, et al. (1996) Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res 24: 3439-52.
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 3439-3452
-
-
Hebsgaard, S.M.1
Korning, P.G.2
Tolstrup, N.3
Engelbrecht, J.4
Rouze, P.5
-
39
-
-
0030787856
-
Analysis of donor splice sites in different eukaryotic organisms
-
Rogozin IB, Milanesi L, (1997) Analysis of donor splice sites in different eukaryotic organisms. J Mol Evol 45: 50-9.
-
(1997)
J Mol Evol
, vol.45
, pp. 50-59
-
-
Rogozin, I.B.1
Milanesi, L.2
-
40
-
-
2442690356
-
Gene structure prediction from consensus spliced alignment of multiple ESTs matching the same genomic locus
-
Brendel V, Xing L, Zhu W, (2004) Gene structure prediction from consensus spliced alignment of multiple ESTs matching the same genomic locus. Bioinformatics 20: 1157-69.
-
(2004)
Bioinformatics
, vol.20
, pp. 1157-1169
-
-
Brendel, V.1
Xing, L.2
Zhu, W.3
-
41
-
-
17144362174
-
Automated splicing mutation analysis by information theory
-
Nalla VK, Rogan PK, (2005) Automated splicing mutation analysis by information theory. Hum Mutat 25: 334-42.
-
(2005)
Hum Mutat
, vol.25
, pp. 334-342
-
-
Nalla, V.K.1
Rogan, P.K.2
-
42
-
-
0030658850
-
Sequence walkers: a graphical method to display how binding proteins interact with DNA or RNA sequences
-
Schneider TD, (1997) Sequence walkers: a graphical method to display how binding proteins interact with DNA or RNA sequences. Nucleic Acids Res 25: 4408-15.
-
(1997)
Nucleic Acids Res
, vol.25
, pp. 4408-4415
-
-
Schneider, T.D.1
-
43
-
-
44949263899
-
Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer
-
Machackova E, Foretova L, Lukesova M, Vasickova P, Navratilova M, et al. (2008) Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer. BMC Cancer 20 8: 140.
-
(2008)
BMC Cancer 20
, vol.8
, pp. 140
-
-
Machackova, E.1
Foretova, L.2
Lukesova, M.3
Vasickova, P.4
Navratilova, M.5
-
44
-
-
66149112122
-
An unusual BRCA2 allele carrying two splice site mutations
-
Colombo M, Ripamonti CB, Pensotti V, Foglia C, Peissel B, et al. (2009) An unusual BRCA2 allele carrying two splice site mutations. Ann Oncol 20: 1143-4.
-
(2009)
Ann Oncol
, vol.20
, pp. 1143-1144
-
-
Colombo, M.1
Ripamonti, C.B.2
Pensotti, V.3
Foglia, C.4
Peissel, B.5
-
45
-
-
65549137185
-
Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling
-
Pensabene M, Spagnoletti I, Capuano I, Condello C, Pepe S, et al. (2009) Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling. Ann Oncol 20: 874-8.
-
(2009)
Ann Oncol
, vol.20
, pp. 874-878
-
-
Pensabene, M.1
Spagnoletti, I.2
Capuano, I.3
Condello, C.4
Pepe, S.5
-
46
-
-
0028034348
-
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families
-
Friedman LS, Ostermeyer EA, Szabo CI, Dowd P, Lynch ED, et al. (1994) Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat Genet 8: 399-404.
-
(1994)
Nat Genet
, vol.8
, pp. 399-404
-
-
Friedman, L.S.1
Ostermeyer, E.A.2
Szabo, C.I.3
Dowd, P.4
Lynch, E.D.5
-
47
-
-
0032778534
-
Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript
-
Ozcelik H, Nedelcu R, Chan VW, Shi XH, Murphy J, et al. (1999) Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript. Hum Mutat 14: 540-1.
-
(1999)
Hum Mutat
, vol.14
, pp. 540-541
-
-
Ozcelik, H.1
Nedelcu, R.2
Chan, V.W.3
Shi, X.H.4
Murphy, J.5
-
48
-
-
0033988223
-
Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families
-
Peelen T, van van VM, Bosch A, Bignell G, Vasen HF, et al. (2000) Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families. Br J Cancer 82: 151-6.
-
(2000)
Br J Cancer
, vol.82
, pp. 151-156
-
-
Peelen, T.1
Van, V.M.2
Bosch, A.3
Bignell, G.4
Vasen, H.F.5
-
49
-
-
0041377852
-
Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model
-
Yang Y, Swaminathan S, Martin BK, Sharan SK, (2003) Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model. Hum Mol Genet 12: 2121-31.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2121-2131
-
-
Yang, Y.1
Swaminathan, S.2
Martin, B.K.3
Sharan, S.K.4
-
50
-
-
84860400560
-
BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels
-
Zhang L, Chen L, Bacares R, Ruggeri JM, Somar J, et al. (2011) BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels. Breast Cancer Res Treat 130: 1051-6.
-
(2011)
Breast Cancer Res Treat
, vol.130
, pp. 1051-1056
-
-
Zhang, L.1
Chen, L.2
Bacares, R.3
Ruggeri, J.M.4
Somar, J.5
-
51
-
-
18544372595
-
BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure
-
Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, et al. (2002) BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure. Science 297: 1837-48.
-
(2002)
Science
, vol.297
, pp. 1837-1848
-
-
Yang, H.1
Jeffrey, P.D.2
Miller, J.3
Kinnucan, E.4
Sun, Y.5
-
52
-
-
55549101314
-
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
-
Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, et al. (2008) Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 29: 1282-91.
-
(2008)
Hum Mutat
, vol.29
, pp. 1282-1291
-
-
Plon, S.E.1
Eccles, D.M.2
Easton, D.3
Foulkes, W.D.4
Genuardi, M.5
-
53
-
-
63549091847
-
cDNA analysis demonstrates that the BRCA2 intronic variant IVS4-12del5 is a deleterious mutation
-
Zhang L, Bacares R, Boyar S, Hudis C, Nafa K, et al. (2009) cDNA analysis demonstrates that the BRCA2 intronic variant IVS4-12del5 is a deleterious mutation. Mutat Res 663: 84-9.
-
(2009)
Mutat Res
, vol.663
, pp. 84-89
-
-
Zhang, L.1
Bacares, R.2
Boyar, S.3
Hudis, C.4
Nafa, K.5
-
54
-
-
33644537810
-
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
-
Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, et al. (2006) Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet 43: 295-305.
-
(2006)
J Med Genet
, vol.43
, pp. 295-305
-
-
Tavtigian, S.V.1
Deffenbaugh, A.M.2
Yin, L.3
Judkins, T.4
Scholl, T.5
-
55
-
-
33847252874
-
Functional impact of missense variants in BRCA1 predicted by supervised learning
-
Karchin R, Monteiro AN, Tavtigian SV, Carvalho MA, Sali A, (2007) Functional impact of missense variants in BRCA1 predicted by supervised learning. PLoS Comput Biol 3: e26.
-
(2007)
PLoS Comput Biol
, vol.3
-
-
Karchin, R.1
Monteiro, A.N.2
Tavtigian, S.V.3
Carvalho, M.A.4
Sali, A.5
-
56
-
-
77953796463
-
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays
-
Lee MS, Green R, Marsillac SM, Coquelle N, Williams RS, et al. (2010) Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. Cancer Res 70: 4880-90.
-
(2010)
Cancer Res
, vol.70
, pp. 4880-4890
-
-
Lee, M.S.1
Green, R.2
Marsillac, S.M.3
Coquelle, N.4
Williams, R.S.5
-
57
-
-
49649087897
-
Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios
-
Epub 2008 Apr 18
-
Karchin R, Agarwal M, Sali A, Couch F, Beattie MS (2008) Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. Cancer Inform 6: 203-16. Epub 2008 Apr 18.
-
(2008)
Cancer Inform
, vol.6
, pp. 203-216
-
-
Karchin, R.1
Agarwal, M.2
Sali, A.3
Couch, F.4
Beattie, M.S.5
-
58
-
-
70350733640
-
Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant
-
Li L, Biswas K, Habib LA, Kuznetsov SG, Hamel N, et al. (2009) Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant. Hum Mutat 30: 1543-50.
-
(2009)
Hum Mutat
, vol.30
, pp. 1543-1550
-
-
Li, L.1
Biswas, K.2
Habib, L.A.3
Kuznetsov, S.G.4
Hamel, N.5
-
59
-
-
84857691697
-
ENIGMA-evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes
-
Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, et al. (2012) ENIGMA-evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Hum Mutat 33: 2-7.
-
(2012)
Hum Mutat
, vol.33
, pp. 2-7
-
-
Spurdle, A.B.1
Healey, S.2
Devereau, A.3
Hogervorst, F.B.4
Monteiro, A.N.5
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