-
1
-
-
84904392150
-
Genetic testing in inherited polyposis syndromes - How and why?
-
Lee GH, Payne SJ, Melville A, et al: Genetic testing in inherited polyposis syndromes - how and why? Colorectal Dis 16:595-602, 2014
-
(2014)
Colorectal Dis
, vol.16
, pp. 595-602
-
-
Lee, G.H.1
Payne, S.J.2
Melville, A.3
-
2
-
-
84870242223
-
Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: An analysis from the CAPP2 randomised controlled trial
-
Mathers JC, Movahedi M, Macrae F, et al: Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: An analysis from the CAPP2 randomised controlled trial. Lancet Oncol 13:1242-1249, 2012
-
(2012)
Lancet Oncol
, vol.13
, pp. 1242-1249
-
-
Mathers, J.C.1
Movahedi, M.2
Macrae, F.3
-
3
-
-
77950521000
-
Mismatch repair deficient colorectal cancer in the era of personalized treatment
-
Hewish M, Lord CJ, Martin SA, et al: Mismatch repair deficient colorectal cancer in the era of personalized treatment. Nat Rev Clin Oncol 7:197-208, 2010
-
(2010)
Nat Rev Clin Oncol
, vol.7
, pp. 197-208
-
-
Hewish, M.1
Lord, C.J.2
Martin, S.A.3
-
4
-
-
0025817880
-
Identification of FAP locus genes from chromosome 5q21
-
Kinzler KW, Nilbert MC, Su LK, et al: Identification of FAP locus genes from chromosome 5q21. Science 253:661-665, 1991
-
(1991)
Science
, vol.253
, pp. 661-665
-
-
Kinzler, K.W.1
Nilbert, M.C.2
Su, L.K.3
-
5
-
-
0034972978
-
Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis
-
Howe JR, Bair JL, Sayed MG, et al: Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet 28:184-187, 2001
-
(2001)
Nat Genet
, vol.28
, pp. 184-187
-
-
Howe, J.R.1
Bair, J.L.2
Sayed, M.G.3
-
6
-
-
0032524069
-
Mutations in the SMAD4/DPC4 gene in juvenile polyposis
-
Howe JR, Roth S, Ringold JC, et al: Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 280:1086-1088, 1998
-
(1998)
Science
, vol.280
, pp. 1086-1088
-
-
Howe, J.R.1
Roth, S.2
Ringold, J.C.3
-
7
-
-
0027933070
-
Mutations of two PMS homologues in hereditary nonpolyposis colon cancer
-
Nicolaides NC, Papadopoulos N, Liu B, et al: Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371:75-80, 1994
-
(1994)
Nature
, vol.371
, pp. 75-80
-
-
Nicolaides, N.C.1
Papadopoulos, N.2
Liu, B.3
-
8
-
-
32044450030
-
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome)
-
Hendriks YM, Jagmohan-Changur S, van der Klift HM, et al: Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Gastroenterology 130:312-322, 2006
-
(2006)
Gastroenterology
, vol.130
, pp. 312-322
-
-
Hendriks, Y.M.1
Jagmohan-Changur, S.2
Van Der Klift, H.M.3
-
9
-
-
0036478899
-
Inherited variants of MYH associated with somatic G: C->T:A mutations in colorectal tumors
-
Al-Tassan N, Chmiel NH, Maynard J, et al: Inherited variants of MYH associated with somatic G: C->T:A mutations in colorectal tumors. Nat Genet 30:227-232, 2002
-
(2002)
Nat Genet
, vol.30
, pp. 227-232
-
-
Al-Tassan, N.1
Chmiel, N.H.2
Maynard, J.3
-
10
-
-
84877769352
-
Germline and somatic polymerase epsilon and delta mutations define a new class of hypermutated colorectal and endometrial cancers
-
Briggs S, Tomlinson I: Germline and somatic polymerase epsilon and delta mutations define a new class of hypermutated colorectal and endometrial cancers. J Pathol 230:148-153, 2013
-
(2013)
J Pathol
, vol.230
, pp. 148-153
-
-
Briggs, S.1
Tomlinson, I.2
-
11
-
-
84873096362
-
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
-
Palles C, Cazier JB, Howarth KM, et al: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 45 136-144, 2013
-
(2013)
Nat Genet
, vol.45
, pp. 136-144
-
-
Palles, C.1
Cazier, J.B.2
Howarth, K.M.3
-
12
-
-
35648977025
-
National study of colorectal cancer genetics
-
Penegar S, Wood W, Lubbe S, et al: National study of colorectal cancer genetics. Br J Cancer 97:1305-1309, 2007
-
(2007)
Br J Cancer
, vol.97
, pp. 1305-1309
-
-
Penegar, S.1
Wood, W.2
Lubbe, S.3
-
13
-
-
79956307251
-
Stampy: A statistical algorithm for sensitive and fast mapping of illumina sequence reads
-
Lunter G, Goodson M: Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads. Genome Res 21:936-939, 2011
-
(2011)
Genome Res
, vol.21
, pp. 936-939
-
-
Lunter, G.1
Goodson, M.2
-
14
-
-
67649884743
-
Fast and accurate short read alignment with burrows-wheeler transform
-
Li H, Durbin R: Fast and accurate short read alignment with Burrows-Wheeler Transform. Bioinformatics 25:1754-1760, 2009
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
15
-
-
77956295988
-
The genome analysis toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna A, Hanna M, Banks E, et al: The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data Genome Res 20:1297-1303, 2010
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
-
16
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo MA, Banks E, Poplin R, et al: A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491-498, 2011
-
(2011)
Nat Genet
, vol.43
, pp. 491-498
-
-
DePristo, M.A.1
Banks, E.2
Poplin, R.3
-
17
-
-
77955405475
-
Deriving the consequences of genomic variants with the ensembl API and SNP effect predictor
-
McLaren W, Pritchard B, Rios D, et al: Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics 26:2069-2070, 2010
-
(2010)
Bioinformatics
, vol.26
, pp. 2069-2070
-
-
McLaren, W.1
Pritchard, B.2
Rios, D.3
-
18
-
-
0035026704
-
Predicting deleterious amino acid substitutions
-
Ng PC, Henikoff S: 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
-
19
-
-
84878799611
-
Predicting functional effect of human missense mutations using PolyPhen-2
-
Chapter 7:Unit 7.20
-
Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. Chapter 7:Unit 7.20, 2013
-
(2013)
Curr Protoc Hum Genet.
-
-
Adzhubei, I.1
Jordan, D.M.2
Sunyaev, S.R.3
-
20
-
-
79953715693
-
Lopez-bigas N: Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, condel
-
Gonzalez-Perez A, Lopez-Bigas N: Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am J Hum Genet 88:440-449, 2011
-
(2011)
Am J Hum Genet
, vol.88
, pp. 440-449
-
-
Gonzalez-Perez, A.1
-
21
-
-
33746512512
-
Principal components analysis corrects for stratification in genome-wide association studies
-
Price AL, Patterson NJ, Plenge RM, et al: Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38:904-909, 2006
-
(2006)
Nat Genet
, vol.38
, pp. 904-909
-
-
Price, A.L.1
Patterson, N.J.2
Plenge, R.M.3
-
22
-
-
79959503826
-
-
The International HapMap Project. Nature 426:789-796, 2003
-
(2003)
Nature
, vol.426
, pp. 789-796
-
-
-
23
-
-
84895789502
-
Application of a 5-tiered scheme for standardized classification of 2, 360 unique mismatch repair gene variants in the InSiGHT locus-specific database
-
Thompson BA, Spurdle AB, Plazzer JP, et al: 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
-
24
-
-
32144461525
-
Cohort profile: 1958 British birth cohort (National child development study)
-
Power C, Elliott J: Cohort profile: 1958 British birth cohort (National Child Development Study). Int J Epidemiol 35:34-41, 2006
-
(2006)
Int J Epidemiol
, vol.35
, pp. 34-41
-
-
Power, C.1
Elliott, J.2
-
25
-
-
33845382806
-
Nonparametric estimation from incomplete observations
-
Kaplan EL, Meier P: Nonparametric estimation from incomplete observations. J Am Stat Assoc 53:457-481, 1958
-
(1958)
J Am Stat Assoc
, vol.53
, pp. 457-481
-
-
Kaplan, E.L.1
Meier, P.2
-
26
-
-
0033063711
-
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, lynch syndrome) proposed by the international collaborative group on HNPCC
-
Vasen HF, Watson P, Mecklin JP, et al: New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116:1453-1456, 1999
-
(1999)
Gastroenterology
, vol.116
, pp. 1453-1456
-
-
Vasen, H.F.1
Watson, P.2
Mecklin, J.P.3
-
27
-
-
0034063711
-
Analysis of genetic and phenotypic heterogeneity in juvenile polyposis
-
Woodford-Richens K, Bevan S, Churchman M, et al: Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Gut 46:656-660, 2000
-
(2000)
Gut
, vol.46
, pp. 656-660
-
-
Woodford-Richens, K.1
Bevan, S.2
Churchman, M.3
-
28
-
-
84875121596
-
Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer
-
Li D, Hu F, Wang F, et al: Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer. PLoS One 8:e51240, 2013
-
(2013)
PLoS One
, vol.8
-
-
Li, D.1
Hu, F.2
Wang, F.3
-
29
-
-
84887844616
-
Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and lynch syndrome
-
Barrow P, Khan M, Lalloo F, et al: Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and Lynch syndrome. Br J Surg 100:1719-1731, 2013
-
(2013)
Br J Surg
, vol.100
, pp. 1719-1731
-
-
Barrow, P.1
Khan, M.2
Lalloo, F.3
-
30
-
-
77952687174
-
One to 2-year surveillance intervals reduce risk of colorectal cancer in families with lynch syndrome
-
Vasen HF, Abdirahman M, Brohet R, et al: One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome. Gastroenterology 138:2300-2306, 2010
-
(2010)
Gastroenterology
, vol.138
, pp. 2300-2306
-
-
Vasen, H.F.1
Abdirahman, M.2
Brohet, R.3
-
31
-
-
65549117870
-
Implications of familial colorectal cancer risk profiles and microsatellite instability status
-
Lubbe SJ, Webb EL, Chandler IP, et al: Implications of familial colorectal cancer risk profiles and microsatellite instability status. J Clin Oncol 27: 2238-2244, 2009
-
(2009)
J Clin Oncol
, vol.27
, pp. 2238-2244
-
-
Lubbe, S.J.1
Webb, E.L.2
Chandler, I.P.3
-
32
-
-
0037058317
-
After hMSH2 and hMLH1-what next? Analysis of three-generational, population-based, early-onset colorectal cancer families
-
Jenkins MA, Baglietto L, Dite GS, et al: After hMSH2 and hMLH1-what next? Analysis of three-generational, population-based, early-onset colorectal cancer families. Int J Cancer 102:166-171, 2002
-
(2002)
Int J Cancer
, vol.102
, pp. 166-171
-
-
Jenkins, M.A.1
Baglietto, L.2
Dite, G.S.3
-
33
-
-
79960818547
-
Familial colorectal cancer type X: Polyp burden and cancer risk stratification via a family history score
-
Koh PK, Kalady M, Skacel M, et al: Familial colorectal cancer type X: Polyp burden and cancer risk stratification via a family history score. ANZ J Surg 81:537-542, 2011
-
(2011)
ANZ J Surg
, vol.81
, pp. 537-542
-
-
Koh, P.K.1
Kalady, M.2
Skacel, M.3
-
34
-
-
34547498546
-
A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21
-
Tomlinson I, Webb E, Carvajal-Carmona L, et al: A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet 39:984-988, 2007
-
(2007)
Nat Genet
, vol.39
, pp. 984-988
-
-
Tomlinson, I.1
Webb, E.2
Carvajal-Carmona, L.3
-
35
-
-
35648937584
-
A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk
-
Broderick P, Carvajal-Carmona L, Pittman AM, et al: A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat Genet 39:1315-1317, 2007
-
(2007)
Nat Genet
, vol.39
, pp. 1315-1317
-
-
Broderick, P.1
Carvajal-Carmona, L.2
Pittman, A.M.3
-
36
-
-
37549072226
-
Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk
-
Jaeger E, Webb E, Howarth K, et al: Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat Genet 40:26-28, 2008
-
(2008)
Nat Genet
, vol.40
, pp. 26-28
-
-
Jaeger, E.1
Webb, E.2
Howarth, K.3
-
37
-
-
42649124305
-
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21
-
Tenesa A, Farrington SM, Prendergast JG, et al: Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet 40:631-637, 2008
-
(2008)
Nat Genet
, vol.40
, pp. 631-637
-
-
Tenesa, A.1
Farrington, S.M.2
Prendergast, J.G.3
-
38
-
-
42649136554
-
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3
-
Tomlinson IP, Webb E, Carvajal-Carmona L, et al: A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet 40:623-630, 2008
-
(2008)
Nat Genet
, vol.40
, pp. 623-630
-
-
Tomlinson, I.P.1
Webb, E.2
Carvajal-Carmona, L.3
-
39
-
-
56749176944
-
Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer
-
Houlston RS, Webb E, Broderick P, et al: Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet 40:1426-1435, 2008
-
(2008)
Nat Genet
, vol.40
, pp. 1426-1435
-
-
Houlston, R.S.1
Webb, E.2
Broderick, P.3
-
40
-
-
78049353079
-
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33
-
Houlston RS, Cheadle J, Dobbins SE, et al: Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat Genet 42:973-977, 2010
-
(2010)
Nat Genet
, vol.42
, pp. 973-977
-
-
Houlston, R.S.1
Cheadle, J.2
Dobbins, S.E.3
-
41
-
-
84863005628
-
Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk
-
Dunlop MG, Dobbins SE, Farrington SM, et al: Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Nat Genet 44:770-776, 2012
-
(2012)
Nat Genet
, vol.44
, pp. 770-776
-
-
Dunlop, M.G.1
Dobbins, S.E.2
Farrington, S.M.3
|