-
1
-
-
84902148239
-
Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine
-
E. M. Van Allen, N. Wagle, P. Stojanov, D. L. Perrin, K. Cibulskis, S. Marlow, J. Jane-Valbuena, D. C. Friedrich, G. Kryukov, S. L. Carter, A. McKenna, A. Sivachenko, M. Rosenberg, A. Kiezun, D. Voet, M. Lawrence, L. T. Lichtenstein, J. G. Gentry, F. W. Huang, J. Fostel, D. Farlow, D. Barbie, L. Gandhi, E. S. Lander, S. W. Gray, S. Joffe, P. Janne, J. Garber, L. MacConaill, N. Lindeman, B. Rollins, P. Kantoff, S. A. Fisher, S. Gabriel, G. Getz, L. A. Garraway, Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine. Nat. Med. 20, 682-688 (2014).
-
(2014)
Nat. Med.
, vol.20
, pp. 682-688
-
-
Van Allen, E.M.1
Wagle, N.2
Stojanov, P.3
Perrin, D.L.4
Cibulskis, K.5
Marlow, S.6
Jane-Valbuena, J.7
Friedrich, D.C.8
Kryukov, G.9
Carter, S.L.10
McKenna, A.11
Sivachenko, A.12
Rosenberg, M.13
Kiezun, A.14
Voet, D.15
Lawrence, M.16
Lichtenstein, L.T.17
Gentry, J.G.18
Huang, F.W.19
Fostel, J.20
Farlow, D.21
Barbie, D.22
Gandhi, L.23
Lander, E.S.24
Gray, S.W.25
Joffe, S.26
Janne, P.27
Garber, J.28
Macconaill, L.29
Lindeman, N.30
Rollins, B.31
Kantoff, P.32
Fisher, S.A.33
Gabriel, S.34
Getz, G.35
Garraway, L.A.36
more..
-
2
-
-
84887491073
-
Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing
-
G. M. Frampton, A. Fichtenholtz, G. A. Otto, K. Wang, S. R. Downing, J. He, M. Schnall-Levin, J. White, E. M. Sanford, P. An, J. Sun, F. Juhn, K. Brennan, K. Iwanik, A. Maillet, J. Buell, E. White, M. Zhao, S. Balasubramanian, S. Terzic, T. Richards, V. Banning, L. Garcia, K. Mahoney, Z. Zwirko, A. Donahue, H. Beltran, J. M. Mosquera, M. A. Rubin, S. Dogan, C. V. Hedvat, M. F. Berger, L. Pusztai, M. Lechner, C. Boshoff, M. Jarosz, C. Vietz, A. Parker, V. A. Miller, J. S. Ross, J. Curran, M. T. Cronin, P. J. Stephens, D. Lipson, R. Yelensky, Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat. Biotechnol. 31, 1023-1031 (2013).
-
(2013)
Nat. Biotechnol.
, vol.31
, pp. 1023-1031
-
-
Frampton, G.M.1
Fichtenholtz, A.2
Otto, G.A.3
Wang, K.4
Downing, S.R.5
He, J.6
Schnall-Levin, M.7
White, J.8
Sanford, E.M.9
An, P.10
Sun, J.11
Juhn, F.12
Brennan, K.13
Iwanik, K.14
Maillet, A.15
Buell, J.16
White, E.17
Zhao, M.18
Balasubramanian, S.19
Terzic, S.20
Richards, T.21
Banning, V.22
Garcia, L.23
Mahoney, K.24
Zwirko, Z.25
Donahue, A.26
Beltran, H.27
Mosquera, J.M.28
Rubin, M.A.29
Dogan, S.30
Hedvat, C.V.31
Berger, M.F.32
Pusztai, L.33
Lechner, M.34
Boshoff, C.35
Jarosz, M.36
Vietz, C.37
Parker, A.38
Miller, V.A.39
Ross, J.S.40
Curran, J.41
Cronin, M.T.42
Stephens, P.J.43
Lipson, D.44
Yelensky, R.45
more..
-
3
-
-
84863652136
-
Circumventing cancer drug resistance in the era of personalized medicine
-
L. A. Garraway, P. A. Jänne, Circumventing cancer drug resistance in the era of personalized medicine. Cancer Discov. 2, 214-226 (2012).
-
(2012)
Cancer Discov.
, vol.2
, pp. 214-226
-
-
Garraway, L.A.1
Jänne, P.A.2
-
4
-
-
84865833740
-
Highthroughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing
-
N. Wagle, M. F. Berger, M. J. Davis, B. Blumenstiel, M. Defelice, P. Pochanard, M. Ducar, P. Van Hummelen, L. E. Macconaill, W. C. Hahn, M. Meyerson, S. B. Gabriel, L. A. Garraway, Highthroughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing. Cancer Discov. 2, 82-93 (2012).
-
(2012)
Cancer Discov.
, vol.2
, pp. 82-93
-
-
Wagle, N.1
Berger, M.F.2
Davis, M.J.3
Blumenstiel, B.4
Defelice, M.5
Pochanard, P.6
Ducar, M.7
Van Hummelen, P.8
Macconaill, L.E.9
Hahn, W.C.10
Meyerson, M.11
Gabriel, S.B.12
Garraway, L.A.13
-
5
-
-
77954566882
-
Rapid targeted mutational analysis of human tumours: A clinical platform to guide personalized cancer medicine
-
D. Dias-Santagata, S. Akhavanfard, S. S. David, K. Vernovsky, G. Kuhlmann, S. L. Boisvert, H. Stubbs, U. McDermott, J. Settleman, E. L. Kwak, J. W. Clark, S. J. Isakoff, L. V. Sequist, J. A. Engelman, T. J. Lynch, D. A. Haber, D. N. Louis, L. W. Ellisen, D. R. Borger, A. J. Iafrate, Rapid targeted mutational analysis of human tumours: A clinical platform to guide personalized cancer medicine. EMBO Mol. Med. 2, 146-158 (2010).
-
(2010)
EMBO Mol. Med.
, vol.2
, pp. 146-158
-
-
Dias-Santagata, D.1
Akhavanfard, S.2
David, S.S.3
Vernovsky, K.4
Kuhlmann, G.5
Boisvert, S.L.6
Stubbs, H.7
McDermott, U.8
Settleman, J.9
Kwak, E.L.10
Clark, J.W.11
Isakoff, S.J.12
Sequist, L.V.13
Engelman, J.A.14
Lynch, T.J.15
Haber, D.A.16
Louis, D.N.17
Ellisen, L.W.18
Borger, D.R.19
Iafrate, A.J.20
more..
-
6
-
-
80053173227
-
Targeted high throughput sequencing in clinical cancer settings: Formaldehyde fixed-paraffin embedded (FFPE) tumor tissues, input amount and tumor heterogeneity
-
M. Kerick, M. Isau, B. Timmermann, H. Sultmann, R. Herwig, S. Krobitsch, G. Schaefer, I. Verdorfer, G. Bartsch, H. Klocker, H. Lehrach, M. R. Schweiger, Targeted high throughput sequencing in clinical cancer settings: Formaldehyde fixed-paraffin embedded (FFPE) tumor tissues, input amount and tumor heterogeneity. BMC Med. Genomics 4, 68 (2011).
-
(2011)
BMC Med. Genomics
, vol.4
, pp. 68
-
-
Kerick, M.1
Isau, M.2
Timmermann, B.3
Sultmann, H.4
Herwig, R.5
Krobitsch, S.6
Schaefer, G.7
Verdorfer, I.8
Bartsch, G.9
Klocker, H.10
Lehrach, H.11
Schweiger, M.R.12
-
7
-
-
82655184653
-
Personalized oncology through integrative high-throughput sequencing: A pilot study
-
S. Roychowdhury, M. K. Iyer, D. R. Robinson, R. J. Lonigro, Y. M. Wu, X. Cao, S. Kalyana-Sundaram, L. Sam, O. A. Balbin, M. J. Quist, T. Barrette, J. Everett, J. Siddiqui, L. P. Kunju, N. Navone, J. C. Araujo, P. Troncoso, C. J. Logothetis, J. W. Innis, D. C. Smith, C. D. Lao, S. Y. Kim, J. S. Roberts, S. B. Gruber, K. J. Pienta, M. Talpaz, A. M. Chinnaiyan, Personalized oncology through integrative high-throughput sequencing: A pilot study. Sci. Transl. Med. 3, 111ra121 (2011).
-
(2011)
Sci. Transl. Med.
, vol.3
, pp. 111ra121
-
-
Roychowdhury, S.1
Iyer, M.K.2
Robinson, D.R.3
Lonigro, R.J.4
Wu, Y.M.5
Cao, X.6
Kalyana-Sundaram, S.7
Sam, L.8
Balbin, O.A.9
Quist, M.J.10
Barrette, T.11
Everett, J.12
Siddiqui, J.13
Kunju, L.P.14
Navone, N.15
Araujo, J.C.16
Troncoso, P.17
Logothetis, C.J.18
Innis, J.W.19
Smith, D.C.20
Lao, C.D.21
Kim, S.Y.22
Roberts, J.S.23
Gruber, S.B.24
Pienta, K.J.25
Talpaz, M.26
Chinnaiyan, A.M.27
more..
-
8
-
-
77951494873
-
Targeted cancer therapies in the twentyfirst century: Lessons from imatinib
-
F. Stegmeier, M. Warmuth, W. R. Sellers, M. Dorsch, Targeted cancer therapies in the twentyfirst century: Lessons from imatinib. Clin. Pharmacol. Ther. 87, 543-552 (2010).
-
(2010)
Clin. Pharmacol. Ther.
, vol.87
, pp. 543-552
-
-
Stegmeier, F.1
Warmuth, M.2
Sellers, W.R.3
Dorsch, M.4
-
9
-
-
42649145667
-
Wild-type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer
-
R. G. Amado, M. Wolf, M. Peeters, E. Van Cutsem, S. Siena, D. J. Freeman, T. Juan, R. Sikorski, S. Suggs, R. Radinsky, S. D. Patterson, D. D. Chang, Wild-type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer. J. Clin. Oncol. 26, 1626-1634 (2008).
-
(2008)
J. Clin. Oncol.
, vol.26
, pp. 1626-1634
-
-
Amado, R.G.1
Wolf, M.2
Peeters, M.3
Van Cutsem, E.4
Siena, S.5
Freeman, D.J.6
Juan, T.7
Sikorski, R.8
Suggs, S.9
Radinsky, R.10
Patterson, S.D.11
Chang, D.D.12
-
10
-
-
52949127312
-
An integrated genomic analysis of human glioblastoma multiforme
-
D. W. Parsons, S. Jones, X. Zhang, J. C. Lin, R. J. Leary, P. Angenendt, P. Mankoo, H. Carter, I. M. Siu, G. L. Gallia, A. Olivi, R. McLendon, B. A. Rasheed, S. Keir, T. Nikolskaya, Y. Nikolsky, D. A. Busam, H. Tekleab, L. A. Diaz Jr., J. Hartigan, D. R. Smith, R. L. Strausberg, S. K. Marie, S. M. Shinjo, H. Yan, G. J. Riggins, D. D. Bigner, R. Karchin, N. Papadopoulos, G. Parmigiani, B. Vogelstein, V. E. Velculescu, K. W. Kinzler, An integrated genomic analysis of human glioblastoma multiforme. Science 321, 1807-1812 (2008).
-
(2008)
Science
, vol.321
, pp. 1807-1812
-
-
Parsons, D.W.1
Jones, S.2
Zhang, X.3
Lin, J.C.4
Leary, R.J.5
Angenendt, P.6
Mankoo, P.7
Carter, H.8
Siu, I.M.9
Gallia, G.L.10
Olivi, A.11
McLendon, R.12
Rasheed, B.A.13
Keir, S.14
Nikolskaya, T.15
Nikolsky, Y.16
Busam, D.A.17
Tekleab, H.18
Diaz, L.A.19
Hartigan, J.20
Smith, D.R.21
Strausberg, R.L.22
Marie, S.K.23
Shinjo, S.M.24
Yan, H.25
Riggins, G.J.26
Bigner, D.D.27
Karchin, R.28
Papadopoulos, N.29
Parmigiani, G.30
Vogelstein, B.31
Velculescu, V.E.32
Kinzler, K.W.33
more..
-
11
-
-
77950561234
-
A rapid, sensitive, reproducible and cost-effective method for mutation profiling of colon cancer and metastatic lymph nodes
-
D. Fumagalli, P. G. Gavin, Y. Taniyama, S. I. Kim, H. J. Choi, S. Paik, K. L. Pogue-Geile, A rapid, sensitive, reproducible and cost-effective method for mutation profiling of colon cancer and metastatic lymph nodes. BMC Cancer 10, 101 (2010).
-
(2010)
BMC Cancer
, vol.10
, pp. 101
-
-
Fumagalli, D.1
Gavin, P.G.2
Taniyama, Y.3
Kim, S.I.4
Choi, H.J.5
Paik, S.6
Pogue-Geile, K.L.7
-
12
-
-
84904502195
-
Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing
-
M. T. Lin, S. L. Mosier, M. Thiess, K. F. Beierl, M. Debeljak, L. H. Tseng,G. Chen, S. Yegnasubramanian, H. Ho, L. Cope, S. J. Wheelan, C. D. Gocke, J. R. Eshleman, Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing. Am. J. Clin. Pathol. 141, 856-866 (2014).
-
(2014)
Am. J. Clin. Pathol.
, vol.141
, pp. 856-866
-
-
Lin, M.T.1
Mosier, S.L.2
Thiess, M.3
Beierl, K.F.4
Debeljak, M.5
Tsengg. Chen, L.H.6
Yegnasubramanian, S.7
Ho, H.8
Cope, L.9
Wheelan, S.J.10
Gocke, C.D.11
Eshleman, J.R.12
-
13
-
-
84921946952
-
RAS testing of colorectal carcinoma-A guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group
-
N. A. Wong, D. Gonzalez, M. Salto-Tellez, R. Butler, S. J. Diaz-Cano, M. Ilyas, W. Newman, E. Shaw, P. Taniere, S. V. Walsh; Association of Clinical Pathologists Molecular Pathology and Diagnostics Group, RAS testing of colorectal carcinoma-A guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group. J. Clin. Pathol. 67, 751-757 (2014).
-
(2014)
J. Clin. Pathol.
, vol.67
, pp. 751-757
-
-
Wong, N.A.1
Gonzalez, D.2
Salto-Tellez, M.3
Butler, R.4
Diaz-Cano, S.J.5
Ilyas, M.6
Newman, W.7
Shaw, E.8
Taniere, P.9
Walsh, S.V.10
-
14
-
-
84922146048
-
Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations
-
C. Kraus, T. T. Rau, P. Lux, K. Erlenbach-Wünsch, S. Löhr, M. Krumbiegel, C. T. Thiel, R. Stöhr, A. Agaimy, R. S. Croner, M. Stürzl, W. Hohenberger, A. Hartmann, A. Reis, Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations. Int. J. Cancer 136, E559-E568 (2015).
-
(2015)
Int. J. Cancer
, vol.136
, pp. E559-E568
-
-
Kraus, C.1
Rau, T.T.2
Lux, P.3
Erlenbach-Wünsch, K.4
Löhr, S.5
Krumbiegel, M.6
Thiel, C.T.7
Stöhr, R.8
Agaimy, A.9
Croner, R.S.10
Stürzl, M.11
Hohenberger, W.12
Hartmann, A.13
Reis, A.14
-
15
-
-
84857917249
-
Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: Implications for genetic testing
-
K. De Leeneer, I. Coene, B. Crombez, J. Simkens, R. Van den Broecke, A. Bols, B. Stragier, I. Vanhoutte, A. De Paepe, B. Poppe, K. Claes, Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: Implications for genetic testing. Breast Cancer Res. Treat. 132, 87-95 (2012).
-
(2012)
Breast Cancer Res. Treat.
, vol.132
, pp. 87-95
-
-
De Leeneer, K.1
Coene, I.2
Crombez, B.3
Simkens, J.4
Broecke Den R.Van5
Bols, A.6
Stragier, B.7
Vanhoutte, I.8
De Paepe, A.9
Poppe, B.10
Claes, K.11
-
16
-
-
33749993417
-
The consensus coding sequences of human breast and colorectal cancers
-
T. Sjöblom, S. Jones, L. D. Wood, D. W. Parsons, J. Lin, T. D. Barber, D. Mandelker, R. J. Leary, J. Ptak, N. Silliman, S. Szabo, P. Buckhaults, C. Farrell, P. Meeh, S. D. Markowitz, J. Willis, D. Dawson, J. K. Willson, A. F. Gazdar, J. Hartigan, L. Wu, C. Liu, G. Parmigiani, B. H. Park, K. E. Bachman, N. Papadopoulos, B. Vogelstein, K. W. Kinzler, V. E. Velculescu, The consensus coding sequences of human breast and colorectal cancers. Science 314, 268-274 (2006).
-
(2006)
Science
, vol.314
, pp. 268-274
-
-
Sjöblom, T.1
Jones, S.2
Wood, L.D.3
Parsons, D.W.4
Lin, J.5
Barber, T.D.6
Mandelker, D.7
Leary, R.J.8
Ptak, J.9
Silliman, N.10
Szabo, S.11
Buckhaults, P.12
Farrell, C.13
Meeh, P.14
Markowitz, S.D.15
Willis, J.16
Dawson, D.17
Willson, J.K.18
Gazdar, A.F.19
Hartigan, J.20
Wu, L.21
Liu, C.22
Parmigiani, G.23
Park, B.H.24
Bachman, K.E.25
Papadopoulos, N.26
Vogelstein, B.27
Kinzler, K.W.28
Velculescu, V.E.29
more..
-
17
-
-
52149123619
-
Core signaling pathways in human pancreatic cancers revealed by global genomic analyses
-
S. Jones, X. Zhang, D. W. Parsons, J. C. Lin, R. J. Leary, P. Angenendt, P. Mankoo, H. Carter, H. Kamiyama, A. Jimeno, S. M. Hong, B. Fu, M. T. Lin, E. S. Calhoun, M. Kamiyama, K. Walter, T. Nikolskaya, Y. Nikolsky, J. Hartigan, D. R. Smith, M. Hidalgo, S. D. Leach, A. P. Klein, E. M. Jaffee, M. Goggins, A. Maitra, C. Iacobuzio-Donahue, J. R. Eshleman, S. E. Kern, R. H. Hruban, R. Karchin, N. Papadopoulos, G. Parmigiani, B. Vogelstein, V. E. Velculescu, K. W. Kinzler, Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Science 321, 1801-1806 (2008).
-
(2008)
Science
, vol.321
, pp. 1801-1806
-
-
Jones, S.1
Zhang, X.2
Parsons, D.W.3
Lin, J.C.4
Leary, R.J.5
Angenendt, P.6
Mankoo, P.7
Carter, H.8
Kamiyama, H.9
Jimeno, A.10
Hong, S.M.11
Fu, B.12
Lin, M.T.13
Calhoun, E.S.14
Kamiyama, M.15
Walter, K.16
Nikolskaya, T.17
Nikolsky, Y.18
Hartigan, J.19
Smith, D.R.20
Hidalgo, M.21
Leach, S.D.22
Klein, A.P.23
Jaffee, E.M.24
Goggins, M.25
Maitra, A.26
Iacobuzio-Donahue, C.27
Eshleman, J.R.28
Kern, S.E.29
Hruban, R.H.30
Karchin, R.31
Papadopoulos, N.32
Parmigiani, G.33
Vogelstein, B.34
Velculescu, V.E.35
Kinzler, K.W.36
more..
-
18
-
-
79251629946
-
The genetic landscape of the childhood cancer medulloblastoma
-
D. W. Parsons, M. Li, X. Zhang, S. Jones, R. J. Leary, J. C. Lin, S. M. Boca, H. Carter, J. Samayoa, C. Bettegowda, G. L. Gallia, G. I. Jallo, Z. A. Binder, Y. Nikolsky, J. Hartigan, D. R. Smith, D. S. Gerhard, D. W. Fults, S. VandenBerg, M. S. Berger, S. K. Marie, S. M. Shinjo, C. Clara, P. C. Phillips, J. E. Minturn, J. A. Biegel, A. R. Judkins, A. C. Resnick, P. B. Storm, T. Curran, Y. He, B. A. Rasheed, H. S. Friedman, S. T. Keir, R. McLendon, P. A. Northcott, M. D. Taylor, P. C. Burger, G. J. Riggins, R. Karchin, G. Parmigiani, D. D. Bigner, H. Yan, N. Papadopoulos, B. Vogelstein, K. W. Kinzler, V. E. Velculescu, The genetic landscape of the childhood cancer medulloblastoma. Science 331, 435-439 (2011).
-
(2011)
Science
, vol.331
, pp. 435-439
-
-
Parsons, D.W.1
Li, M.2
Zhang, X.3
Jones, S.4
Leary, R.J.5
Lin, J.C.6
Boca, S.M.7
Carter, H.8
Samayoa, J.9
Bettegowda, C.10
Gallia, G.L.11
Jallo, G.I.12
Binder, Z.A.13
Nikolsky, Y.14
Hartigan, J.15
Smith, D.R.16
Gerhard, D.S.17
Fults, D.W.18
Vandenberg, S.19
Berger, M.S.20
Marie, S.K.21
Shinjo, S.M.22
Clara, C.23
Phillips, P.C.24
Minturn, J.E.25
Biegel, J.A.26
Judkins, A.R.27
Resnick, A.C.28
Storm, P.B.29
Curran, T.30
He, Y.31
Rasheed, B.A.32
Friedman, H.S.33
Keir, S.T.34
McLendon, R.35
Northcott, P.A.36
Taylor, M.D.37
Burger, P.C.38
Riggins, G.J.39
Karchin, R.40
Parmigiani, G.41
Bigner, D.D.42
Yan, H.43
Papadopoulos, N.44
Vogelstein, B.45
Kinzler, K.W.46
Velculescu, V.E.47
more..
-
19
-
-
84871982155
-
Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma
-
M. Sausen, R. J. Leary, S. Jones, J. Wu, C. P. Reynolds, X. Liu, A. Blackford, G. Parmigiani, L. A. Diaz Jr., N. Papadopoulos, B. Vogelstein, K. Kinzler, V. E. Velculescu, M. D. Hogarty, Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma. Nat. Genet. 45, 12-17 (2013).
-
(2013)
Nat. Genet
, vol.45
, pp. 12-17
-
-
Sausen, M.1
Leary, R.J.2
Jones, S.3
Wu, J.4
Reynolds, C.P.5
Liu, X.6
Blackford, A.7
Parmigiani, G.8
Diaz, L.A.9
Papadopoulos, N.10
Vogelstein, B.11
Kinzler, K.12
Velculescu, V.E.13
Hogarty, M.D.14
-
20
-
-
77957731999
-
Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma
-
S. Jones, T. L. Wang, le-M. Shih, T. L. Mao, K. Nakayama, R. Roden, R. Glas, D. Slamon, L. A. Diaz Jr., B. Vogelstein, K. W. Kinzler, V. E. Velculescu, N. Papadopoulos, Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma. Science 330, 228-231 (2010)
-
(2010)
Science
, vol.330
, pp. 228-231
-
-
Jones, S.1
Wang, T.L.2
Shih, L.M.3
Mao, T.L.4
Nakayama, K.5
Roden, R.6
Glas, R.7
Slamon, D.8
Diaz, L.A.9
Vogelstein, B.10
Kinzler, K.W.11
Velculescu, V.E.12
Papadopoulos, N.13
-
21
-
-
85027946522
-
Exome sequencing identifies GRIN2A as frequently mutated in melanoma
-
X. Wei, V. Walia, J. C. Lin, J. K. Teer, T. D. Prickett, J. Gartner, S. Davis; NISC Comparative Sequencing Program, K. Stemke-Hale, M. A. Davies, J. E. Gershenwald, W. Robinson, S. Robinson, S. A. Rosenberg, Y. Samuels, Exome sequencing identifies GRIN2A as frequently mutated in melanoma. Nat. Genet. 43, 442-446 (2011).
-
(2011)
Nat. Genet.
, vol.43
, pp. 442-446
-
-
Wei, X.1
Walia, V.2
Lin, J.C.3
Teer, J.K.4
Prickett, T.D.5
Gartner, J.6
Davis, S.7
Stemke-Hale, K.8
Davies, M.A.9
Gershenwald, J.E.10
Robinson, W.11
Robinson, S.12
Rosenberg, S.A.13
Samuels, Y.14
-
22
-
-
79959838081
-
Integrated genomic analyses of ovarian carcinoma
-
Cancer Genome Atlas Research Network, Integrated genomic analyses of ovarian carcinoma. Nature 474, 609-615 (2011).
-
(2011)
Nature
, vol.474
, pp. 609-615
-
-
Cancer Genome Atlas Research Network1
-
23
-
-
84879890360
-
Comprehensive molecular characterization of clear cell renal cell carcinoma
-
Cancer Genome Atlas Research Network, Comprehensive molecular characterization of clear cell renal cell carcinoma. Nature 499, 43-49 (2013).
-
(2013)
Nature
, vol.499
, pp. 43-49
-
-
Cancer Genome Atlas Research Network1
-
24
-
-
84878372012
-
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia
-
Cancer Genome Atlas Research Network, Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia, N. Engl. J. Med. 368, 2059-2074 (2013).
-
(2013)
N. Engl. J. Med.
, vol.368
, pp. 2059-2074
-
-
Cancer Genome Atlas Research Network1
-
25
-
-
84922068082
-
Genetic landscape of esophageal squamous cell carcinoma
-
Y. B. Gao, Z. L. Chen, J. G. Li, X. D. Hu, X. J. Shi, Z. M. Sun, F. Zhang, Z. R. Zhao, Z. T. Li, Z. Y. Liu, Y. D. Zhao, J. Sun, C. C. Zhou, R. Yao, S. Y. Wang, P. Wang, N. Sun, B. H. Zhang, J. S. Dong, Y. Yu, M. Luo, X. L. Feng, S. S. Shi, F. Zhou, F. W. Tan, B. Qiu, N. Li, K. Shao, L. J. Zhang, L. J. Zhang, Q. Xue, S. G. Gao, J. He, Genetic landscape of esophageal squamous cell carcinoma. Nat. Genet. 46, 1097-1102 (2014).
-
(2014)
Nat. Genet.
, vol.46
, pp. 1097-1102
-
-
Gao, Y.B.1
Chen, Z.L.2
Li, J.G.3
Hu, X.D.4
Shi, X.J.5
Sun, Z.M.6
Zhang, F.7
Zhao, Z.R.8
Li, Z.T.9
Liu, Z.Y.10
Zhao, Y.D.11
Sun, J.12
Zhou, C.C.13
Yao, R.14
Wang, S.Y.15
Wang, P.16
Sun, N.17
Zhang, B.H.18
Dong, J.S.19
Yu, Y.20
Luo, M.21
Feng, X.L.22
Shi, S.S.23
Zhou, F.24
Tan, F.W.25
Qiu, B.26
Li, N.27
Shao, K.28
Zhang, L.J.29
Zhang, L.J.30
Xue, Q.31
Gao, S.G.32
He, J.33
more..
-
26
-
-
84896691170
-
Comprehensive genomic analysis of rhabdomyosarcoma reveals a landscape of alterations affecting a common genetic axis in fusion-positive and fusion-negative tumors
-
J. F. Shern, L. Chen, J. Chmielecki, J. S. Wei, R. Patidar, M. Rosenberg, L. Ambrogio, D. Auclair, J. Wang, Y. K. Song, C. Tolman, L. Hurd, H. Liao, S. Zhang, D. Bogen, A. S. Brohl, S. Sindiri, D. Catchpoole, T. Badgett, G. Getz, J. Mora, J. R. Anderson, S. X. Skapek, F. G. Barr, M. Meyerson, D. S. Hawkins, J. Khan, Comprehensive genomic analysis of rhabdomyosarcoma reveals a landscape of alterations affecting a common genetic axis in fusion-positive and fusion-negative tumors. Cancer Discov. 4, 216-231 (2014).
-
(2014)
Cancer Discov.
, vol.4
, pp. 216-231
-
-
Shern, J.F.1
Chen, L.2
Chmielecki, J.3
Wei, J.S.4
Patidar, R.5
Rosenberg, M.6
Ambrogio, L.7
Auclair, D.8
Wang, J.9
Song, Y.K.10
Tolman, C.11
Hurd, L.12
Liao, H.13
Zhang, S.14
Bogen, D.15
Brohl, A.S.16
Sindiri, S.17
Catchpoole, D.18
Badgett, T.19
Getz, G.20
Mora, J.21
Anderson, J.R.22
Skapek, S.X.23
Barr, F.G.24
Meyerson, M.25
Hawkins, D.S.26
Khan, J.27
more..
-
27
-
-
84888353882
-
Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas
-
Y. Jiao, T. M. Pawlik, R. A. Anders, F. M. Selaru, M. M. Streppel, D. J. Lucas, N. Niknafs, V. B. Guthrie, A. Maitra, P. Argani, G. J. Offerhaus, J. C. Roa, L. R. Roberts, G. J. Gores, I. Popescu, S. T. Alexandrescu, S. Dima, M. Fassan, M. Simbolo, A. Mafficini, P. Capelli, R. T. Lawlor, A. Ruzzenente, A. Guglielmi, G. Tortora, F. de Braud, A. Scarpa, W. Jarnagin, D. Klimstra, R. Karchin, V. E. Velculescu, R. H. Hruban, B. Vogelstein, K. W. Kinzler, N. Papadopoulos, L. D. Wood, Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas. Nat. Genet. 45, 1470-1473 (2013).
-
(2013)
Nat. Genet.
, vol.45
, pp. 1470-1473
-
-
Jiao, Y.1
Pawlik, T.M.2
Anders, R.A.3
Selaru, F.M.4
Streppel, M.M.5
Lucas, D.J.6
Niknafs, N.7
Guthrie, V.B.8
Maitra, A.9
Argani, P.10
Offerhaus, G.J.11
Roa, J.C.12
Roberts, L.R.13
Gores, G.J.14
Popescu, I.15
Alexandrescu, S.T.16
Dima, S.17
Fassan, M.18
Simbolo, M.19
Mafficini, A.20
Capelli, P.21
Lawlor, R.T.22
Ruzzenente, A.23
Guglielmi, A.24
Tortora, G.25
De Braud, F.26
Scarpa, A.27
Jarnagin, W.28
Klimstra, D.29
Karchin, R.30
Velculescu, V.E.31
Hruban, R.H.32
Vogelstein, B.33
Kinzler, K.W.34
Papadopoulos, N.35
Wood, L.D.36
more..
-
28
-
-
84860327480
-
Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes
-
Z. J. Zang, I. Cutcutache, S. L. Poon, S. L. Zhang, J. R. McPherson, J. Tao, V. Rajasegaran, H. L. Heng, N. Deng, A. Gan, K. H. Lim, C. K.Ong, D. Huang, S. Y. Chin, I. B. Tan, C. C. Ng, W. Yu, Y. Wu,M. Lee, J. Wu, D. Poh, W. K. Wan, S. Y. Rha, J. So, M. Salto-Tellez, K. G. Yeoh, W. K. Wong, Y. J. Zhu, P. A. Futreal, B. Pang, Y. Ruan, A. M. Hillmer, D. Bertrand, N. Nagarajan, S. Rozen, B. T. Teh, P. Tan, Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes. Nat. Genet. 44, 570-574 (2012).
-
(2012)
Nat. Genet.
, vol.44
, pp. 570-574
-
-
Zang, Z.J.1
Cutcutache, I.2
Poon, S.L.3
Zhang, S.L.4
McPherson, J.R.5
Tao, J.6
Rajasegaran, V.7
Heng, H.L.8
Deng, N.9
Gan, A.10
Lim, K.H.11
Ong, C.K.12
Huang, D.13
Chin, S.Y.14
Tan, I.B.15
Ng, C.C.16
Yu, W.17
Wu, M.18
Lee, Y.19
Wu, J.20
Poh, D.21
Wan, W.K.22
Rha, S.Y.23
So, J.24
Salto-Tellez, M.25
Yeoh, K.G.26
Wong, W.K.27
Zhu, Y.J.28
Futreal, P.A.29
Pang, B.30
Ruan, Y.31
Hillmer, A.M.32
Bertrand, D.33
Nagarajan, N.34
Rozen, S.35
Teh, B.T.36
Tan, P.37
more..
-
29
-
-
84905029258
-
Comprehensive molecular profiling of lung adenocarcinoma
-
Cancer Genome Atlas Research Network, Comprehensive molecular profiling of lung adenocarcinoma. Nature 511, 543-550 (2014).
-
(2014)
Nature
, vol.511
, pp. 543-550
-
-
Cancer Genome Atlas Research Network1
-
30
-
-
79952279828
-
DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors
-
Y. Jiao, C. Shi, B. H. Edil, R. F. de Wilde, D. S. Klimstra, A. Maitra, R. D. Schulick, L. H. Tang, C. L. Wolfgang, M. A. Choti, V. E. Velculescu, L. A. Diaz Jr., B. Vogelstein, K. W. Kinzler, R. H. Hruban, N. Papadopoulos, DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors. Science 331, 1199-1203 (2011).
-
(2011)
Science
, vol.331
, pp. 1199-1203
-
-
Jiao, Y.1
Shi, C.2
Edil, B.H.3
De Wilde, R.F.4
Klimstra, D.S.5
Maitra, A.6
Schulick, R.D.7
Tang, L.H.8
Wolfgang, C.L.9
Choti, M.A.10
Velculescu, V.E.11
Diaz, L.A.12
Vogelstein, B.13
Kinzler, K.W.14
Hruban, R.H.15
Papadopoulos, N.16
-
31
-
-
0034729226
-
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients
-
A. Li, M. Swift, Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. Am. J. Med. Genet. 92, 170-177 (2000).
-
(2000)
Am. J. Med. Genet.
, vol.92
, pp. 170-177
-
-
Li, A.1
Swift, M.2
-
32
-
-
84975742565
-
A map of human genome variation from populationscale sequencing
-
1000 Genomes Project Consortium; G. R. Abecasis, D. Altshuler, A. Auton, L. D. Brooks, R. M. Durbin, R. A. Gibbs, M. E. Hurles, G. A. McVean, A map of human genome variation from populationscale sequencing. Nature 467, 1061-1073 (2010).
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
1000 Genomes Project Consortium1
2
Abecasis, G.R.3
Altshuler, D.4
Auton, A.5
Brooks, L.D.6
Durbin, R.M.7
Gibbs, R.A.8
Hurles, M.E.9
McVean, G.A.10
-
33
-
-
85017742398
-
UK launches 1000,000-genome initiative
-
UK launches 1000,000-genome initiative. Cancer Discov. 3, OF6 (2013).
-
(2013)
Cancer Discov.
, vol.3
, pp. OF6
-
-
-
34
-
-
85017728748
-
Human Longevity Inc. Launches massive sequencing effort
-
Human Longevity Inc. launches massive sequencing effort. Cancer Discov. 4, OF5 (2014).
-
(2014)
Cancer Discov.
, vol.4
, pp. OF5
-
-
-
35
-
-
69249115697
-
Cancer-specific high-throughput annotation of somatic mutations: Computational prediction of driver missense mutations
-
H. Carter, S. Chen, L. Isik, S. Tyekucheva, V. E. Velculescu, K. W. Kinzler, B. Vogelstein, R. Karchin, Cancer-specific high-throughput annotation of somatic mutations: Computational prediction of driver missense mutations. Cancer Res. 69, 6660-6667 (2009).
-
(2009)
Cancer Res.
, vol.69
, pp. 6660-6667
-
-
Carter, H.1
Chen, S.2
Isik, L.3
Tyekucheva, S.4
Velculescu, V.E.5
Kinzler, K.W.6
Vogelstein, B.7
Karchin, R.8
-
36
-
-
0035026704
-
Predicting deleterious amino acid substitutions
-
P. C. Ng, S. Henikoff, Predicting deleterious amino acid substitutions. Genome Res. 11, 863-874 (2001).
-
(2001)
Genome Res.
, vol.11
, pp. 863-874
-
-
Ng, P.C.1
Henikoff, S.2
-
37
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
I. A. Adzhubei, S. Schmidt, L. Peshkin, V. E. Ramensky, A. Gerasimova, P. Bork, A. S. Kondrashov, S. R. Sunyaev, A method and server for predicting damaging missense mutations. Nat. Methods 7, 248-249 (2010).
-
(2010)
Nat. Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
38
-
-
41949139438
-
Comparative lesion sequencing provides insights into tumor evolution
-
S. Jones, W. D. Chen, G. Parmigiani, F. Diehl, N. Beerenwinkel, T. Antal, A. Traulsen, M. A. Nowak, C. Siegel, V. E. Velculescu, K. W. Kinzler, B. Vogelstein, J. Willis, S. D. Markowitz, Comparative lesion sequencing provides insights into tumor evolution. Proc. Natl. Acad. Sci. U.S.A. 105, 4283-4288 (2008).
-
(2008)
Proc. Natl. Acad. Sci. U.S.A.
, vol.105
, pp. 4283-4288
-
-
Jones, S.1
Chen, W.D.2
Parmigiani, G.3
Diehl, F.4
Beerenwinkel, N.5
Antal, T.6
Traulsen, A.7
Nowak, M.A.8
Siegel, C.9
Velculescu, V.E.10
Kinzler, K.W.11
Vogelstein, B.12
Willis, J.13
Markowitz, S.D.14
-
39
-
-
0014757386
-
A general method applicable to the search for similarities in the amino acid sequence of two proteins
-
S. B. Needleman, C. D. Wunsch, A general method applicable to the search for similarities in the amino acid sequence of two proteins. J. Mol. Biol. 48, 443-453 (1970).
-
(1970)
J. Mol. Biol.
, vol.48
, pp. 443-453
-
-
Needleman, S.B.1
Wunsch, C.D.2
-
40
-
-
78651285748
-
CDD: A Conserved Domain Database for the functional annotation of proteins
-
A.Marchler-Bauer, S. Lu, J. B. Anderson, F. Chitsaz, M. K.Derbyshire, C. DeWeese-Scott, J. H. Fong, L. Y. Geer, R. C. Geer, N. R. Gonzales, M. Gwadz, D. I. Hurwitz, J. D. Jackson, Z. Ke, C. J. Lanczycki, F. Lu, G. H. Marchler, M. Mullokandov, M. V. Omelchenko, C. L. Robertson, J. S. Song, N. Thanki, R. A. Yamashita, D. Zhang, N. Zhang, C. Zheng, S. H. Bryant, CDD: A Conserved Domain Database for the functional annotation of proteins. Nucleic Acids Res. 39, D225-D229 (2011).
-
(2011)
Nucleic Acids Res.
, vol.39
, pp. D225-D229
-
-
Marchler-Bauer, A.1
Lu, S.2
Anderson, J.B.3
Chitsaz, F.4
Derbyshire, M.K.5
De Weese-Scott, C.6
Fong, J.H.7
Geer, L.Y.8
Geer, R.C.9
Gonzales, N.R.10
Gwadz, M.11
Hurwitz, D.I.12
Jackson, J.D.13
Ke, Z.14
Lanczycki, C.J.15
Lu, F.16
Marchler, G.H.17
Mullokandov, M.18
Omelchenko, M.V.19
Robertson, C.L.20
Song, J.S.21
Thanki, N.22
Yamashita, R.A.23
Zhang, D.24
Zhang, N.25
Zheng, C.26
Bryant, S.H.27
more..
-
41
-
-
84891809093
-
ClinVar: Public archive of relationships among sequence variation and human phenotype
-
M. J. Landrum, J. M. Lee, G. R. Riley, W. Jang, W. S. Rubinstein, D. M. Church, D. R. Maglott, ClinVar: Public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 42, D980-D985 (2014).
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. D980-D985
-
-
Landrum, M.J.1
Lee, J.M.2
Riley, G.R.3
Jang, W.4
Rubinstein, W.S.5
Church, D.M.6
Maglott, D.R.7
-
42
-
-
0029980129
-
Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene
-
F. J. Couch, B. L. Weber, Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Hum. Mutat. 8, 8-18 (1996).
-
(1996)
Hum. Mutat.
, vol.8
, pp. 8-18
-
-
Couch, F.J.1
Weber, B.L.2
-
43
-
-
79954997174
-
LOVD v.2.0: The next generation in gene variant databases
-
I. F. Fokkema, P. E. Taschner, G. C. Schaafsma, J. Celli, J. F. Laros, J. T. den Dunnen, LOVD v.2.0: The next generation in gene variant databases. Hum. Mutat. 32, 557-563 (2011).
-
(2011)
Hum. Mutat.
, vol.32
, pp. 557-563
-
-
Fokkema, I.F.1
Taschner, P.E.2
Schaafsma, G.C.3
Celli, J.4
Laros, J.F.5
Den Dunnen, J.T.6
-
44
-
-
34248379012
-
Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: Lessons from recent developments in the IARC TP53 database
-
A. Petitjean, E. Mathe, S. Kato, C. Ishioka, S. V. Tavtigian, P. Hainaut, M. Olivier, Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: Lessons from recent developments in the IARC TP53 database. Hum. Mutat. 28, 622-629 (2007).
-
(2007)
Hum. Mutat.
, vol.28
, pp. 622-629
-
-
Petitjean, A.1
Mathe, E.2
Kato, S.3
Ishioka, C.4
Tavtigian, S.V.5
Hainaut, P.6
Olivier, M.7
-
45
-
-
84895789502
-
InSiGHT, Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
-
B. A. Thompson, A. B. Spurdle, J. P. Plazzer, M. S. Greenblatt, K. Akagi, F. Al-Mulla, B. Bapat, I. Bernstein, G. Capellá, J. T. den Dunnen, D. du Sart, A. Fabre, M. P. Farrell, S. M. Farrington, I. M. Frayling, T. Frebourg, D. E. Goldgar, C. D. Heinen, E. Holinski-Feder, M. Kohonen-Corish, K. L. Robinson, S. Y. Leung, A. Martins, P. Moller, M. Morak, M. Nystrom, P. Peltomaki, M. Pineda, M. Qi, R. Ramesar, L. J. Rasmussen, B. Royer-Pokora, R. J. Scott, R. Sijmons, S. V. Tavtigian, C. M. Tops, T. Weber, J. Wijnen, M. O. Woods, F. Macrae, M. Genuardi; InSiGHT, Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat. Genet. 46, 107-115 (2014
-
(2014)
Nat. Genet.
, vol.46
, pp. 107-115
-
-
Thompson, B.A.1
Spurdle, A.B.2
Plazzer, J.P.3
Greenblatt, M.S.4
Akagi, K.5
Al-Mulla, F.6
Bapat, B.7
Bernstein, I.8
Capellá, G.9
Den Dunnen, J.T.10
Du Sart, D.11
Fabre, A.12
Farrell, M.P.13
Farrington, S.M.14
Frayling, I.M.15
Frebourg, T.16
Goldgar, D.E.17
Heinen, C.D.18
Holinski-Feder, E.19
Kohonen-Corish, M.20
Robinson, K.L.21
Leung, S.Y.22
Martins, A.23
Moller, P.24
Morak, M.25
Nystrom, M.26
Peltomaki, P.27
Pineda, M.28
Qi, M.29
Ramesar, R.30
Rasmussen, L.J.31
Royer-Pokora, B.32
Scott, R.J.33
Sijmons, R.34
Tavtigian, S.V.35
Tops, C.M.36
Weber, T.37
Wijnen, J.38
Woods, M.O.39
Macrae, F.40
Genuardi, M.41
more..
|