-
1
-
-
0142178215
-
Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
-
New York Breast Cancer Study Group
-
M.C. King, J.H. Marks, J.B. Mandell New York Breast Cancer Study Group Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2 Science 302 2003 643 646
-
(2003)
Science
, vol.302
, pp. 643-646
-
-
King, M.C.1
Marks, J.H.2
Mandell, J.B.3
-
2
-
-
72449148140
-
Prognosis of BRCA-associated breast cancer: A summary of evidence
-
L. Bordeleau, S. Panchal, P. Goodwin Prognosis of BRCA-associated breast cancer: a summary of evidence Breast Cancer Res Treat 119 2010 13 24
-
(2010)
Breast Cancer Res Treat
, vol.119
, pp. 13-24
-
-
Bordeleau, L.1
Panchal, S.2
Goodwin, P.3
-
3
-
-
78650078754
-
Identification and management of women with BRCA mutations or hereditary predisposition for breast and ovarian cancer
-
S. Pruthi, B.S. Gostout, N.M. Lindor Identification and management of women with BRCA mutations or hereditary predisposition for breast and ovarian cancer Mayo Clin Proc 85 2010 1111 1120
-
(2010)
Mayo Clin Proc
, vol.85
, pp. 1111-1120
-
-
Pruthi, S.1
Gostout, B.S.2
Lindor, N.M.3
-
4
-
-
0041592486
-
Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: A population-based study
-
S. de Sanjosé, M. Léoné, V. Bérez, A. Izquierdo, R. Font, J.M. Brunet, T. Louat, L. Vilardell, J. Borras, P. Viladiu, F.X. Bosch, G.M. Lenoir, O.M. Sinilnikova Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study Int J Cancer 106 2003 588 593
-
(2003)
Int J Cancer
, vol.106
, pp. 588-593
-
-
De Sanjosé, S.1
Léoné, M.2
Bérez, V.3
Izquierdo, A.4
Font, R.5
Brunet, J.M.6
Louat, T.7
Vilardell, L.8
Borras, J.9
Viladiu, P.10
Bosch, F.X.11
Lenoir, G.M.12
Sinilnikova, O.M.13
-
5
-
-
2142746426
-
Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: Identification of three novel pathogenic mutations
-
J.I. Martnez-Ferrandis, A. Vega, I. Chirivella, P. Marn-Garca, A. Insa, A. Lluch, A. Carracedo, F.J. Chaves, J. Garca-Conde, A. Cervantes, M.E. Armengod Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations Hum Mutat 22 2003 417 418
-
(2003)
Hum Mutat
, vol.22
, pp. 417-418
-
-
Martnez-Ferrandis, J.I.1
Vega, A.2
Chirivella, I.3
Marn-Garca, P.4
Insa, A.5
Lluch, A.6
Carracedo, A.7
Chaves, F.J.8
Garca-Conde, J.9
Cervantes, A.10
Armengod, M.E.11
-
6
-
-
77149138300
-
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: The WECARE study
-
A. Borg, R.W. Haile, K.E. Malone, M. Capanu, A. Diep, T. Trngren, S. Teraoka, C.B. Begg, D.C. Thomas, P. Concannon, L. Mellemkjaer, L. Bernstein, L. Tellhed, S. Xue, E.R. Olson, X. Liang, J. Dolle, A.L. Børresen-Dale, J.L. Bernstein 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 2010 E1200 E1240
-
(2010)
Hum Mutat
, vol.31
-
-
Borg, A.1
Haile, R.W.2
Malone, K.E.3
Capanu, M.4
Diep, A.5
Trngren, T.6
Teraoka, S.7
Begg, C.B.8
Thomas, D.C.9
Concannon, P.10
Mellemkjaer, L.11
Bernstein, L.12
Tellhed, L.13
Xue, S.14
Olson, E.R.15
Liang, X.16
Dolle, J.17
Børresen-Dale, A.L.18
Bernstein, J.L.19
-
7
-
-
10744232814
-
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects
-
O. Dez, A. Osorio, M. Durn, J.I. Martinez-Ferrandis, M. de la Hoya, R. Salazar, A. Vega, B. Campos, R. Rodrguez-López, E. Velasco, J. Chaves, E. Daz-Rubio, J. Jess Cruz, M. Torres, E. Esteban, A. Cervantes, C. Alonso, J.M. San Romn, R. Gonzlez-Sarmiento, C. Miner, A. Carracedo, M. Eugenia Armengod, T. Caldés, J. Bentez, M. Baiget Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects Hum Mutat 22 2003 301 312
-
(2003)
Hum Mutat
, vol.22
, pp. 301-312
-
-
Dez, O.1
Osorio, A.2
Durn, M.3
Martinez-Ferrandis, J.I.4
De La Hoya, M.5
Salazar, R.6
Vega, A.7
Campos, B.8
Rodrguez-López, R.9
Velasco, E.10
Chaves, J.11
Daz-Rubio, E.12
Jess Cruz, J.13
Torres, M.14
Esteban, E.15
Cervantes, A.16
Alonso, C.17
San Romn, J.M.18
Gonzlez-Sarmiento, R.19
Miner, C.20
Carracedo, A.21
Eugenia Armengod, M.22
Caldés, T.23
Bentez, J.24
Baiget, M.25
more..
-
8
-
-
5044238400
-
BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer
-
J.H. Seo, D.Y. Cho, S.H. Ahn, K.S. Yoon, C.S. Kang, H.M. Cho, H.S. Lee, J.J. Choe, C.W. Choi, B.S. Kim, S.W. Shin, Y.H. Kim, J.S. Kim, G.S. Son, J.B. Lee, B.H. Koo BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer Hum Mutat 24 2004 350
-
(2004)
Hum Mutat
, vol.24
, pp. 350
-
-
Seo, J.H.1
Cho, D.Y.2
Ahn, S.H.3
Yoon, K.S.4
Kang, C.S.5
Cho, H.M.6
Lee, H.S.7
Choe, J.J.8
Choi, C.W.9
Kim, B.S.10
Shin, S.W.11
Kim, Y.H.12
Kim, J.S.13
Son, G.S.14
Lee, J.B.15
Koo, B.H.16
-
9
-
-
34249717959
-
Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: A systematic review
-
A. Gerhardus, H. Schleberger, B. Schlegelberger, D. Gadzicki Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review Eur J Hum Genet 15 2007 619 627
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 619-627
-
-
Gerhardus, A.1
Schleberger, H.2
Schlegelberger, B.3
Gadzicki, D.4
-
10
-
-
44849123232
-
Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: Comparison of two high-resolution melting platforms
-
K. De Leeneer, I. Coene, B. Poppe, A. De Paepe, K. Claes Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms Clin Chem 54 2008 982 989
-
(2008)
Clin Chem
, vol.54
, pp. 982-989
-
-
De Leeneer, K.1
Coene, I.2
Poppe, B.3
De Paepe, A.4
Claes, K.5
-
11
-
-
78650135064
-
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
-
F. Coulet, F. Pires, E. Rouleau, C. Lefol, S. Martin, C. Colas, O. Cohen-Haguenauer, I. Giurgea, A. Fajac, C. Nogus, L. Demange, A. Hardouin, R. Lidereau, F. Soubrier 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 14 2010 677 690
-
(2010)
Genet Test Mol Biomarkers
, vol.14
, pp. 677-690
-
-
Coulet, F.1
Pires, F.2
Rouleau, E.3
Lefol, C.4
Martin, S.5
Colas, C.6
Cohen-Haguenauer, O.7
Giurgea, I.8
Fajac, A.9
Nogus, C.10
Demange, L.11
Hardouin, A.12
Lidereau, R.13
Soubrier, F.14
-
12
-
-
78650011793
-
Germline mutations of BRCA1 and BRCA2 genes in Turkish breast, ovarian, and prostate cancer patients
-
E. Manguolu, S. Gran, D. Yama, T. Colak, M. Simek, M. Baykara, M. Akaydn, G. Lleci Germline mutations of BRCA1 and BRCA2 genes in Turkish breast, ovarian, and prostate cancer patients Cancer Genet Cytogenet 203 2010 230 237
-
(2010)
Cancer Genet Cytogenet
, vol.203
, pp. 230-237
-
-
Manguolu, E.1
Gran, S.2
Yama, D.3
Colak, T.4
Simek, M.5
Baykara, M.6
Akaydn, M.7
Lleci, G.8
-
13
-
-
0031832541
-
Sequence analysis of BRCA1 and BRCA2: Correlation of mutations with family history and ovarian cancer risk
-
T.S. Frank, S.A. Manley, O.I. Olopade, S. Cummings, J.E. Garber, B. Bernhardt, K. Antman, D. Russo, M.E. Wood, L. Mullineau, C. Isaacs, B. Peshkin, S. Buys, V. Venne, P.T. Rowley, S. Loader, K. Offit, M. Robson, H. Hampel, D. Brener, E.P. Winer, S. Clark, B. Weber, L.C. Strong, A. Thomas Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk J Clin Oncol 16 1998 2417 2425
-
(1998)
J Clin Oncol
, vol.16
, pp. 2417-2425
-
-
Frank, T.S.1
Manley, S.A.2
Olopade, O.I.3
Cummings, S.4
Garber, J.E.5
Bernhardt, B.6
Antman, K.7
Russo, D.8
Wood, M.E.9
Mullineau, L.10
Isaacs, C.11
Peshkin, B.12
Buys, S.13
Venne, V.14
Rowley, P.T.15
Loader, S.16
Offit, K.17
Robson, M.18
Hampel, H.19
Brener, D.20
Winer, E.P.21
Clark, S.22
Weber, B.23
Strong, L.C.24
Thomas, A.25
more..
-
14
-
-
5044227573
-
Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification
-
D.J. Bunyan, D.M. Eccles, J. Sillibourne, E. Wilkins, N.S. Thomas, J. Shea-Simonds, P.J. Duncan, C.E. Curtis, D.O. Robinson, J.F. Harvey, N.C. Cross Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification Br J Cancer 91 2004 1155 1159
-
(2004)
Br J Cancer
, vol.91
, pp. 1155-1159
-
-
Bunyan, D.J.1
Eccles, D.M.2
Sillibourne, J.3
Wilkins, E.4
Thomas, N.S.5
Shea-Simonds, J.6
Duncan, P.J.7
Curtis, C.E.8
Robinson, D.O.9
Harvey, J.F.10
Cross, N.C.11
-
15
-
-
69949110747
-
Genomic rearrangements in BRCA1 and BRCA2: A literature review
-
I.P. Ewald, P.L. Ribeiro, E.I. Palmero, S.L. Cossio, R. Giugliani, P. Ashton-Prolla Genomic rearrangements in BRCA1 and BRCA2: a literature review Genet Mol Biol 32 2009 437 446
-
(2009)
Genet Mol Biol
, vol.32
, pp. 437-446
-
-
Ewald, I.P.1
Ribeiro, P.L.2
Palmero, E.I.3
Cossio, S.L.4
Giugliani, R.5
Ashton-Prolla, P.6
-
16
-
-
79952259734
-
Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing
-
S.J. Bowne, L.S. Sullivan, D.C. Koboldt, L. Ding, R. Fulton, R.M. Abbott, E.J. Sodergren, D.G. Birch, D.H. Wheaton, J.R. Heckenlively, Q. Liu, E.A. Pierce, G.M. Weinstock, S.P. Daiger Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing Invest Ophthalmol Vis Sci 52 2011 494 503
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 494-503
-
-
Bowne, S.J.1
Sullivan, L.S.2
Koboldt, D.C.3
Ding, L.4
Fulton, R.5
Abbott, R.M.6
Sodergren, E.J.7
Birch, D.G.8
Wheaton, D.H.9
Heckenlively, J.R.10
Liu, Q.11
Pierce, E.A.12
Weinstock, G.M.13
Daiger, S.P.14
-
17
-
-
79551549004
-
Novel genomic techniques open new avenues in the analysis of monogenic disorders
-
G. Kuhlenbumer, J. Hullmann, S. Appenzeller Novel genomic techniques open new avenues in the analysis of monogenic disorders Hum Mutat 32 2011 144 151
-
(2011)
Hum Mutat
, vol.32
, pp. 144-151
-
-
Kuhlenbumer, G.1
Hullmann, J.2
Appenzeller, S.3
-
18
-
-
55949095205
-
Keeping up with the next generation: Massively parallel sequencing in clinical diagnostics
-
J.R. ten Bosch, W.W. Grody Keeping up with the next generation: massively parallel sequencing in clinical diagnostics J Mol Diagn 10 2008 484 492
-
(2008)
J Mol Diagn
, vol.10
, pp. 484-492
-
-
Ten Bosch, J.R.1
Grody, W.W.2
-
19
-
-
64149123778
-
Next-generation sequencing: From basic research to diagnostics
-
K.V. Voelkerding, S.A. Dames, J.D. Durtschi Next-generation sequencing: from basic research to diagnostics Clin Chem 55 2009 641 658
-
(2009)
Clin Chem
, vol.55
, pp. 641-658
-
-
Voelkerding, K.V.1
Dames, S.A.2
Durtschi, J.D.3
-
20
-
-
0035153070
-
Pyrosequencing sheds light on DNA sequencing
-
M. Ronaghi Pyrosequencing sheds light on DNA sequencing Genome Res 11 2001 3 11
-
(2001)
Genome Res
, vol.11
, pp. 3-11
-
-
Ronaghi, M.1
-
21
-
-
33747722670
-
Large-scale pyrosequencing of synthetic DNA: A comparison with results from Sanger dideoxy sequencing
-
B. Gharizadeh, Z.S. Herman, R.G. Eason, O. Jejelowo, N. Pourmand Large-scale pyrosequencing of synthetic DNA: a comparison with results from Sanger dideoxy sequencing Electrophoresis 27 2006 3042 3047
-
(2006)
Electrophoresis
, vol.27
, pp. 3042-3047
-
-
Gharizadeh, B.1
Herman, Z.S.2
Eason, R.G.3
Jejelowo, O.4
Pourmand, N.5
-
22
-
-
55549092780
-
Nested patch PCR enables highly multiplexed mutation discovery in candidate genes
-
K.E. Varley, R.D. Mitra Nested patch PCR enables highly multiplexed mutation discovery in candidate genes Genome Res 18 2008 1844 1850
-
(2008)
Genome Res
, vol.18
, pp. 1844-1850
-
-
Varley, K.E.1
Mitra, R.D.2
-
24
-
-
79951805438
-
Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: Opportunities, challenges, and limitations
-
K. De Leeneer, J. Hellemans, J. De Schrijver, M. Baetens, B. Poppe, W. Van Criekinge, A. De Paepe, P. Coucke, K. Claes Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations Hum Mutat 32 2011 335 344
-
(2011)
Hum Mutat
, vol.32
, pp. 335-344
-
-
De Leeneer, K.1
Hellemans, J.2
De Schrijver, J.3
Baetens, M.4
Poppe, B.5
Van Criekinge, W.6
De Paepe, A.7
Coucke, P.8
Claes, K.9
-
25
-
-
79960070912
-
Preparation of next-generation sequencing libraries using Nextera™ technology: Simultaneous DNA fragmentation and adaptor tagging by in vitro transposition
-
N. Caruccio Preparation of next-generation sequencing libraries using Nextera™ technology: simultaneous DNA fragmentation and adaptor tagging by in vitro transposition Methods Mol Biol 733 2011 241 255
-
(2011)
Methods Mol Biol
, vol.733
, pp. 241-255
-
-
Caruccio, N.1
-
26
-
-
43149107930
-
Quality scores and SNP detection in sequencing-by-synthesis systems
-
W. Brockman, P. Alvarez, S. Young, M. Garber, G. Giannoukos, W.L. Lee, C. Russ, E.S. Lander, C. Nusbaum, D.B. Jaffe Quality scores and SNP detection in sequencing-by-synthesis systems Genome Res 18 2008 763 770
-
(2008)
Genome Res
, vol.18
, pp. 763-770
-
-
Brockman, W.1
Alvarez, P.2
Young, S.3
Garber, M.4
Giannoukos, G.5
Lee, W.L.6
Russ, C.7
Lander, E.S.8
Nusbaum, C.9
Jaffe, D.B.10
-
27
-
-
80053590678
-
Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics
-
K. De Leeneer, J. De Schrijver, L. Clement, M. Baetens, S. Lefever, S. De Keulenaer, W. Van Criekinge, D. Deforce, F. Van Nieuwerburgh, S. Bekaert, F. Pattyn, B. De Wilde, P. Coucke, J. Vandesompele, K. Claes, J. Hellemans Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics PLoS One 6 2011 e25531
-
(2011)
PLoS One
, vol.6
, pp. 25531
-
-
De Leeneer, K.1
De Schrijver, J.2
Clement, L.3
Baetens, M.4
Lefever, S.5
De Keulenaer, S.6
Van Criekinge, W.7
Deforce, D.8
Van Nieuwerburgh, F.9
Bekaert, S.10
Pattyn, F.11
De Wilde, B.12
Coucke, P.13
Vandesompele, J.14
Claes, K.15
Hellemans, J.16
-
28
-
-
77955439715
-
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
-
T. Walsh, M.K. Lee, S. Casadei, A.M. Thornton, S.M. Stray, C. Pennil, A.S. Nord, J.B. Mandell, E.M. Swisher, M.C. King Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing Proc Natl Acad Sci U S A 107 2010 12629 12633
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 12629-12633
-
-
Walsh, T.1
Lee, M.K.2
Casadei, S.3
Thornton, A.M.4
Stray, S.M.5
Pennil, C.6
Nord, A.S.7
Mandell, J.B.8
Swisher, E.M.9
King, M.C.10
-
29
-
-
78549273639
-
A standardized framework for the validation and verification of clinical molecular genetic tests
-
EuroGentest Validation Group
-
C.J. Mattocks, M.A. Morris, G. Matthijs, E. Swinnen, A. Corveleyn, E. Dequeker, C.R. Mller, V. Pratt, A. Wallace EuroGentest Validation Group A standardized framework for the validation and verification of clinical molecular genetic tests Eur J Hum Genet 18 2010 1276 1288
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 1276-1288
-
-
Mattocks, C.J.1
Morris, M.A.2
Matthijs, G.3
Swinnen, E.4
Corveleyn, A.5
Dequeker, E.6
Mller, C.R.7
Pratt, V.8
Wallace, A.9
-
30
-
-
0028902949
-
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA->G, produces a new exon: High frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype
-
M. Chillon, T. Dork, T. Casals, J. Gimenez, N. Fonknechten, K. Will, D. Ramos, V. Nunes, X. Estivill A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype Am J Hum Genet 56 1995 623 629
-
(1995)
Am J Hum Genet
, vol.56
, pp. 623-629
-
-
Chillon, M.1
Dork, T.2
Casals, T.3
Gimenez, J.4
Fonknechten, N.5
Will, K.6
Ramos, D.7
Nunes, V.8
Estivill, X.9
-
31
-
-
33748664605
-
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
-
A.I. den Hollander, R.K. Koenekoop, S. Yzer, I. Lopez, M.L. Arends, K.E. Voesenek, M.N. Zonneveld, T.M. Strom, T. Meitinger, H.G. Brunner Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis Am J Hum Genet 79 2006 556 561
-
(2006)
Am J Hum Genet
, vol.79
, pp. 556-561
-
-
Den Hollander, A.I.1
Koenekoop, R.K.2
Yzer, S.3
Lopez, I.4
Arends, M.L.5
Voesenek, K.E.6
Zonneveld, M.N.7
Strom, T.M.8
Meitinger, T.9
Brunner, H.G.10
-
32
-
-
69649087772
-
A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance
-
T. Rio Frio, T.L. McGee, N.M. Wade, C. Iseli, J.S. Beckmann, E.L. Berson, C. Rivolta A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance Hum Mutat 30 2009 1340 1347
-
(2009)
Hum Mutat
, vol.30
, pp. 1340-1347
-
-
Rio Frio, T.1
McGee, T.L.2
Wade, N.M.3
Iseli, C.4
Beckmann, J.S.5
Berson, E.L.6
Rivolta, C.7
|