-
1
-
-
0034644185
-
Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland
-
Lichtenstein, P., Holm, N.V., Verkasalo, P.K., Iliadou, A., Kaprio, J., Koskenvuo, M., Pukkala, E., Skytthe, A. and Hemminki, K. (2000) Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland. N. Engl. J. Med., 343, 78-85.
-
(2000)
N. Engl. J. Med.
, vol.343
, pp. 78-85
-
-
Lichtenstein, P.1
Holm, N.V.2
Verkasalo, P.K.3
Iliadou, A.4
Kaprio, J.5
Koskenvuo, M.6
Pukkala, E.7
Skytthe, A.8
Hemminki, K.9
-
2
-
-
33846332027
-
Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors
-
Aaltonen, L., Johns, L., Jarvinen, H., Mecklin, J.P. and Houlston, R. (2007) Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors. Clin. Cancer Res., 13, 356-361.
-
(2007)
Clin. Cancer Res.
, vol.13
, pp. 356-361
-
-
Aaltonen, L.1
Johns, L.2
Jarvinen, H.3
Mecklin, J.P.4
Houlston, R.5
-
3
-
-
53149152985
-
Lynchsyndromeand related familial colorectal cancers
-
discussion 23-31
-
Abdel-Rahman,W.M.and Peltomaki, P. (2008)Lynchsyndromeand related familial colorectal cancers. Crit. Rev. Oncog., 14, 1-22; discussion 23-31.
-
(2008)
Crit. Rev. Oncog.
, vol.14
, pp. 1-22
-
-
Abdel-Rahman, W.M.1
Peltomaki, P.2
-
4
-
-
67650924286
-
Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications
-
Lynch, H.T., Lynch, P.M., Lanspa, S.J., Snyder, C.L., Lynch, J.F. and Boland, C.R. (2009) Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin. Genet., 76, 1-18.
-
(2009)
Clin. Genet.
, vol.76
, pp. 1-18
-
-
Lynch, H.T.1
Lynch, P.M.2
Lanspa, S.J.3
Snyder, C.L.4
Lynch, J.F.5
Boland, C.R.6
-
5
-
-
0037468517
-
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH
-
Sieber, O.M., Lipton, L., Crabtree, M., Heinimann, K., Fidalgo, P., Phillips, R.K., Bisgaard, M.L., Orntoft, T.F., Aaltonen, L.A., Hodgson, S.V. et al. (2003) Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N. Engl. J. Med., 348, 791-799.
-
(2003)
N. Engl. J. Med.
, vol.348
, pp. 791-799
-
-
Sieber, O.M.1
Lipton, L.2
Crabtree, M.3
Heinimann, K.4
Fidalgo, P.5
Phillips, R.K.6
Bisgaard, M.L.7
Orntoft, T.F.8
Aaltonen, L.A.9
Hodgson, S.V.10
-
6
-
-
84861584357
-
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1
-
Jaeger, E., Leedham, S., Lewis, A., Segditsas, S., Becker, M., Cuadrado, P.R., Davis, H., Kaur, K., Heinimann, K., Howarth, K. et al. (2012) Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nat. Genet., 44, 699-703.
-
(2012)
Nat. Genet.
, vol.44
, pp. 699-703
-
-
Jaeger, E.1
Leedham, S.2
Lewis, A.3
Segditsas, S.4
Becker, M.5
Cuadrado, P.R.6
Davis, H.7
Kaur, K.8
Heinimann, K.9
Howarth, K.10
-
7
-
-
3142746721
-
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations
-
Howe, J.R., Sayed, M.G., Ahmed, A.F., Ringold, J., Larsen-Haidle, J., Merg, A., Mitros, F.A., Vaccaro, C.A., Petersen, G.M., Giardiello, F.M. et al. (2004) The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J. Med. Genet., 41, 484-491.
-
(2004)
J. Med. Genet.
, vol.41
, pp. 484-491
-
-
Howe, J.R.1
Sayed, M.G.2
Ahmed, A.F.3
Ringold, J.4
Larsen-Haidle, J.5
Merg, A.6
Mitros, F.A.7
Vaccaro, C.A.8
Petersen, G.M.9
Giardiello, F.M.10
-
8
-
-
77953985258
-
Peutz-Jeghers syndrome: a systematic review and recommendations for management
-
Beggs, A.D., Latchford, A.R., Vasen, H.F., Moslein, G., Alonso, A., Aretz, S., Bertario, L., Blanco, I., Bulow, S., Burn, J. et al. (2010) Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut, 59, 975-986.
-
(2010)
Gut
, vol.59
, pp. 975-986
-
-
Beggs, A.D.1
Latchford, A.R.2
Vasen, H.F.3
Moslein, G.4
Alonso, A.5
Aretz, S.6
Bertario, L.7
Blanco, I.8
Bulow, S.9
Burn, J.10
-
9
-
-
85027931809
-
When overgrowth bumps into cancer: the PTEN-opathies
-
Mester, J. and Eng, C. (2013) When overgrowth bumps into cancer: the PTEN-opathies. Am. J. Med. Genet. C Semin. Med. Genet., 163, 114-121.
-
(2013)
Am. J. Med. Genet. C Semin. Med. Genet.
, vol.163
, pp. 114-121
-
-
Mester, J.1
Eng, C.2
-
10
-
-
84873096362
-
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
-
Palles, C., Cazier, J.B., Howarth, K.M., Domingo, E., Jones, A.M., Broderick, P., Kemp, Z., Spain, S.L., Guarino, E., Salguero, I. et al. (2013) Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat. Genet., 45, 136-144.
-
(2013)
Nat. Genet.
, vol.45
, pp. 136-144
-
-
Palles, C.1
Cazier, J.B.2
Howarth, K.M.3
Domingo, E.4
Jones, A.M.5
Broderick, P.6
Kemp, Z.7
Spain, S.L.8
Guarino, E.9
Salguero, I.10
-
11
-
-
84872842789
-
MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes
-
Donehower, L.A., Creighton, C.J., Schultz, N., Shinbrot, E., Chang, K., Gunaratne, P.H., Muzny, D., Sander, C., Hamilton, S.R., Gibbs, R.A. et al. (2013) MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes. J. Pathol., 229, 99-110.
-
(2013)
J. Pathol.
, vol.229
, pp. 99-110
-
-
Donehower, L.A.1
Creighton, C.J.2
Schultz, N.3
Shinbrot, E.4
Chang, K.5
Gunaratne, P.H.6
Muzny, D.7
Sander, C.8
Hamilton, S.R.9
Gibbs, R.A.10
-
12
-
-
84877747678
-
DNA polymerase epsilon and delta exonuclease domain mutations in endometrial cancer
-
Church, D.N., Briggs, S.E., Palles, C., Domingo, E., Kearsey, S.J., Grimes, J.M., Gorman, M., Martin, L., Howarth, K.M., Hodgson, S.V. et al. (2013) DNA polymerase epsilon and delta exonuclease domain mutations in endometrial cancer. Hum. Mol. Genet., 22, 2820-2828.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 2820-2828
-
-
Church, D.N.1
Briggs, S.E.2
Palles, C.3
Domingo, E.4
Kearsey, S.J.5
Grimes, J.M.6
Gorman, M.7
Martin, L.8
Howarth, K.M.9
Hodgson, S.V.10
-
13
-
-
84877769352
-
Germline and somatic polymerase epsilon and delta mutations define a new class of hypermutated colorectal and endometrial cancers
-
Briggs, S. and Tomlinson, I. (2013) Germline and somatic polymerase epsilon and delta mutations define a new class of hypermutated colorectal and endometrial cancers. J. Pathol., 230, 148-153.
-
(2013)
J. Pathol.
, vol.230
, pp. 148-153
-
-
Briggs, S.1
Tomlinson, I.2
-
14
-
-
33745812019
-
A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae
-
Murphy, K., Darmawan, H., Schultz, A., Fidalgo da Silva, E. and Reha-Krantz, L.J. (2006) A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae. Genome, 49, 403-410.
-
(2006)
Genome
, vol.49
, pp. 403-410
-
-
Murphy, K.1
Darmawan, H.2
Schultz, A.3
Fidalgo da Silva, E.4
Reha-Krantz, L.J.5
-
15
-
-
84879409534
-
Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer
-
Smith, C.G., Naven, M., Harris, R., Colley, J., West, H., Li, N., Liu, Y., Adams, R., Maughan, T.S., Nichols, L. et al. (2013) Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer. Hum. Mutat., 34, 1026-1034.
-
(2013)
Hum. Mutat.
, vol.34
, pp. 1026-1034
-
-
Smith, C.G.1
Naven, M.2
Harris, R.3
Colley, J.4
West, H.5
Li, N.6
Liu, Y.7
Adams, R.8
Maughan, T.S.9
Nichols, L.10
-
16
-
-
38349147316
-
Somatic APC mosaicism: an underestimated cause of polyposis coli
-
Hes, F.J., Nielsen, M., Bik, E.C., Konvalinka, D., Wijnen, J.T., Bakker, E., Vasen, H.F., Breuning, M.H. and Tops, C.M. (2008) Somatic APC mosaicism: an underestimated cause of polyposis coli. Gut, 57, 71-76.
-
(2008)
Gut
, vol.57
, pp. 71-76
-
-
Hes, F.J.1
Nielsen, M.2
Bik, E.C.3
Konvalinka, D.4
Wijnen, J.T.5
Bakker, E.6
Vasen, H.F.7
Breuning, M.H.8
Tops, C.M.9
-
17
-
-
84878583537
-
Genetics: new classification for endometrial cancer puts genes in POLE position
-
Kirk, R. (2013) Genetics: new classification for endometrial cancer puts genes in POLE position. Nat. Rev. Clin. Oncol., 10, 304.
-
(2013)
Nat. Rev. Clin. Oncol.
, vol.10
, pp. 304
-
-
Kirk, R.1
-
18
-
-
67649836973
-
Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?
-
Gomez-Fernandez, N., Castellvi-Bel, S., Fernandez-Rozadilla, C., Balaguer, F., Munoz, J., Madrigal, I., Mila, M., Grana, B., Vega, A., Castells, A. et al. (2009) Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? BMC Med. Genet., 10, 57.
-
(2009)
BMC Med. Genet.
, vol.10
, pp. 57
-
-
Gomez-Fernandez, N.1
Castellvi-Bel, S.2
Fernandez-Rozadilla, C.3
Balaguer, F.4
Munoz, J.5
Madrigal, I.6
Mila, M.7
Grana, B.8
Vega, A.9
Castells, A.10
-
19
-
-
84878337371
-
Clinical subtypes and molecular characteristics of serrated polyposis syndrome
-
quiz e746
-
Guarinos, C., Sanchez-Fortun, C., Rodriguez-Soler, M., Perez-Carbonell, L., Egoavil, C., Juarez, M., Serradesanferm, A., Bujanda, L., Fernandez-Banares, F., Cubiella, J. et al. (2013) Clinical subtypes and molecular characteristics of serrated polyposis syndrome. Clin. Gastroenterol. Hepatol., 11, 705-711; quiz e746.
-
(2013)
Clin. Gastroenterol. Hepatol.
, vol.11
, pp. 705-711
-
-
Guarinos, C.1
Sanchez-Fortun, C.2
Rodriguez-Soler, M.3
Perez-Carbonell, L.4
Egoavil, C.5
Juarez, M.6
Serradesanferm, A.7
Bujanda, L.8
Fernandez-Banares, F.9
Cubiella, J.10
-
20
-
-
32044453591
-
Identification and analysis of deleterious human SNPs
-
Yue, P. and Moult, J. (2006) Identification and analysis of deleterious human SNPs. J. Mol. Biol., 356, 1263-1274.
-
(2006)
J. Mol. Biol.
, vol.356
, pp. 1263-1274
-
-
Yue, P.1
Moult, J.2
-
21
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I.A., Schmidt, S., Peshkin, L., Ramensky, V.E., Gerasimova, A., Bork, P., Kondrashov, A.S. and Sunyaev, S.R. (2010) A method and server for predicting damaging missense mutations. Nat. Methods, 7, 248-249.
-
(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
-
22
-
-
0036119504
-
Accounting for human polymorphisms predicted to affect protein function
-
Ng, P.C. and Henikoff, S. (2002) Accounting for human polymorphisms predicted to affect protein function. Genome Res., 12, 436-446.
-
(2002)
Genome Res.
, vol.12
, pp. 436-446
-
-
Ng, P.C.1
Henikoff, S.2
-
23
-
-
79953715693
-
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel
-
Gonzalez-Perez, A. and Lopez-Bigas, N. (2011) Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am. J. Hum. Genet., 88, 440-449.
-
(2011)
Am. J. Hum. Genet.
, vol.88
, pp. 440-449
-
-
Gonzalez-Perez, A.1
Lopez-Bigas, N.2
|