-
1
-
-
0034644185
-
Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland
-
Lichtenstein P, Holm NV, Verkasalo PK, et al. Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 2000;343:78-85.
-
(2000)
N Engl J Med
, vol.343
, pp. 78-85
-
-
Lichtenstein, P.1
Holm, N.V.2
Verkasalo, P.K.3
-
2
-
-
84898774680
-
History, genetics, and strategies for cancer prevention in Lynch syndrome
-
Kastrinos F, Stoffel EM. History, genetics, and strategies for cancer prevention in Lynch syndrome. Clin Gastroenterol Hepatol 2014;12:715-27.
-
(2014)
Clin Gastroenterol Hepatol
, vol.12
, pp. 715-727
-
-
Kastrinos, F.1
Stoffel, E.M.2
-
3
-
-
84875939245
-
Implementing genomic medicine in the clinic: The future is here
-
Manolio TA, Chisholm RL, Ozenberger B, et al. Implementing genomic medicine in the clinic: the future is here. Genet Med 2013;15:258-67.
-
(2013)
Genet Med
, vol.15
, pp. 258-267
-
-
Manolio, T.A.1
Chisholm, R.L.2
Ozenberger, B.3
-
4
-
-
84890220904
-
Criteria and prediction models for mismatch repair gene mutations: A review
-
Win AK, Macinnis RJ, Dowty JG, et al. Criteria and prediction models for mismatch repair gene mutations: a review. J Med Genet 2013;50:785-93.
-
(2013)
J Med Genet
, vol.50
, pp. 785-793
-
-
Win, A.K.1
Macinnis, R.J.2
Dowty, J.G.3
-
6
-
-
0033825587
-
Sensitivity and specificity of clinical criteria for hereditary nonpolyposis colorectal cancer associated mutations in MSH2 and MLH1
-
Syngal S, Fox EA, Eng C, et al. Sensitivity and specificity of clinical criteria for hereditary nonpolyposis colorectal cancer associated mutations in MSH2 and MLH1. J Med Genet 2000;37:641-5.
-
(2000)
J Med Genet
, vol.37
, pp. 641-645
-
-
Syngal, S.1
Fox, E.A.2
Eng, C.3
-
7
-
-
75349092528
-
Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer
-
Engel C, Rahner N, Schulmann K, et al. Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer. Clin Gastroenterol Hepatol 2010;8:174-82.
-
(2010)
Clin Gastroenterol Hepatol
, vol.8
, pp. 174-182
-
-
Engel, C.1
Rahner, N.2
Schulmann, K.3
-
8
-
-
33749029656
-
Geno-type-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: A report by the German HNPCC Consortium
-
Goecke T, Schulmann K, Engel C, et al. Geno-type-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium. J Clin Oncol 2006;24:4285-92.
-
(2006)
J Clin Oncol
, vol.24
, pp. 4285-4292
-
-
Goecke, T.1
Schulmann, K.2
Engel, C.3
-
9
-
-
84899456187
-
Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: A comprehensive analysis of 3671 families
-
Steinke V, Holzapfel S, Loeffler M, et al. Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: a comprehensive analysis of 3671 families. Int J Cancer 2014;135:69-77.
-
(2014)
Int J Cancer
, vol.135
, pp. 69-77
-
-
Steinke, V.1
Holzapfel, S.2
Loeffler, M.3
-
10
-
-
59849108152
-
The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: Methods of the EGAPP Working Group
-
Teutsch SM, Bradley LA, Palomaki GE, et al. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: methods of the EGAPP Working Group. Genet Med 2009;11:3-14.
-
(2009)
Genet Med
, vol.11
, pp. 3-14
-
-
Teutsch, S.M.1
Bradley, L.A.2
Palomaki, G.E.3
-
11
-
-
84883873822
-
Population-based molecular screening for Lynch syndrome: Implications for personalized medicine
-
Ward RL, Hicks S, Hawkins NJ. Population-based molecular screening for Lynch syndrome: implications for personalized medicine. J Clin Oncol 2013;31:2554-62.
-
(2013)
J Clin Oncol
, vol.31
, pp. 2554-2562
-
-
Ward, R.L.1
Hicks, S.2
Hawkins, N.J.3
-
12
-
-
84902544333
-
Familial Colorectal Cancer, Beyond Lynch Syndrome
-
Stoffel EM, Kastrinos F. Familial Colorectal Cancer, Beyond Lynch Syndrome. Clin Gastroenterol Hepatol 2014;12:1059-68.
-
(2014)
Clin Gastroenterol Hepatol
, vol.12
, pp. 1059-1068
-
-
Stoffel, E.M.1
Kastrinos, F.2
-
13
-
-
85028131004
-
-
Available at Accessed on November 2011
-
National Cancer Institute. Available at: http://www.cancer.gov/. Accessed on November 2011.
-
-
-
-
14
-
-
84872485671
-
-
Available at Accessed on November 2011
-
COSMIC: catalogue of somatic mutations. Available at: http://cancer.sanger.ac.uk/cancergenome/projects/cosmic/. Accessed on November 2011.
-
COSMIC: Catalogue of Somatic Mutations
-
-
-
15
-
-
0032534069
-
A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer
-
Boland CR, Thibodeau SN, Hamilton SR, et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998;58:5248-57.
-
(1998)
Cancer Res
, vol.58
, pp. 5248-5257
-
-
Boland, C.R.1
Thibodeau, S.N.2
Hamilton, S.R.3
-
16
-
-
0036224279
-
Distinction between familial and sporadic forms of colorectal cancer showing DNA microsatellite instability
-
Jass JR, Walsh MD, Barker M, et al. Distinction between familial and sporadic forms of colorectal cancer showing DNA microsatellite instability. Eur J Cancer 2002;38:858-66.
-
(2002)
Eur J Cancer
, vol.38
, pp. 858-866
-
-
Jass, J.R.1
Walsh, M.D.2
Barker, M.3
-
17
-
-
10744233937
-
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
-
Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004;96:261-8.
-
(2004)
J Natl Cancer Inst
, vol.96
, pp. 261-268
-
-
Umar, A.1
Boland, C.R.2
Terdiman, J.P.3
-
18
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073-81.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
19
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-9.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
-
20
-
-
33644537810
-
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
-
Tavtigian SV, Deffenbaugh AM, Yin L, et al. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet 2006;43:295-305.
-
(2006)
J Med Genet
, vol.43
, pp. 295-305
-
-
Tavtigian, S.V.1
Deffenbaugh, A.M.2
Yin, L.3
-
21
-
-
44849098783
-
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR)
-
Chao EC, Velasquez JL, Witherspoon MS, et al. Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). Hum Mutat 2008;29:852-60.
-
(2008)
Hum Mutat
, vol.29
, pp. 852-860
-
-
Chao, E.C.1
Velasquez, J.L.2
Witherspoon, M.S.3
-
23
-
-
0025744474
-
Prediction of human mRNA donor and acceptor sites from the DNA sequence
-
Brunak S, Engelbrecht J, Knudsen S. Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 1991;220:49-65.
-
(1991)
J Mol Biol
, vol.220
, pp. 49-65
-
-
Brunak, S.1
Engelbrecht, J.2
Knudsen, S.3
-
24
-
-
0029791403
-
Splice site prediction in Arabidopsis thaliana premRNA by combining local and global sequence information
-
Hebsgaard SM, Korning PG, Tolstrup N, et al. Splice site prediction in Arabidopsis thaliana premRNA by combining local and global sequence information. Nucleic Acids Res 1996;24:3439-52.
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 3439-3452
-
-
Hebsgaard, S.M.1
Korning, P.G.2
Tolstrup, N.3
-
25
-
-
85028148849
-
-
Available at Accessed on May 2013
-
Exome Variant Server. Available at: http://evs.gs.washington.edu/EVS/. Accessed on May 2013.
-
-
-
-
26
-
-
0025899162
-
Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients
-
Nishisho I, Nakamura Y, Miyoshi Y, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991;253:665-9.
-
(1991)
Science
, vol.253
, pp. 665-669
-
-
Nishisho, I.1
Nakamura, Y.2
Miyoshi, Y.3
-
27
-
-
1342309591
-
Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: A population-based study in northern Sweden
-
Cederquist K, Emanuelsson M, Goransson I, et al. Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden. Int J Cancer 2004;109:370-6.
-
(2004)
Int J Cancer
, vol.109
, pp. 370-376
-
-
Cederquist, K.1
Emanuelsson, M.2
Goransson, I.3
-
28
-
-
1642415306
-
Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue
-
Plaschke J, Kruger S, Dietmaier W, et al. Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue. Hum Mutat 2004;23:285.
-
(2004)
Hum Mutat
, vol.23
, pp. 285
-
-
Plaschke, J.1
Kruger, S.2
Dietmaier, W.3
-
29
-
-
0028822645
-
Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families
-
Tannergard P, Lipford JR, Kolodner R, et al. Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. Cancer Res 1995;55:6092-6.
-
(1995)
Cancer Res
, vol.55
, pp. 6092-6096
-
-
Tannergard, P.1
Lipford, J.R.2
Kolodner, R.3
-
30
-
-
84922112829
-
Identification of an APC variant in a patient with clinical attenuated familial adenomatous polyposis
-
Schlussel AT, Donlon SS, Eggerding FA, et al. Identification of an APC variant in a patient with clinical attenuated familial adenomatous polyposis. Case Rep Med 2014;2014:432324.
-
(2014)
Case Rep Med
, vol.2014
, pp. 432324
-
-
Schlussel, A.T.1
Donlon, S.S.2
Eggerding, F.A.3
-
31
-
-
84880921949
-
The InSiGHT database: Utilizing 100 years of insights into Lynch syndrome
-
Plazzer JP, Sijmons RH, Woods MO, et al. The InSiGHT database: utilizing 100 years of insights into Lynch syndrome. Fam Cancer 2013;12:175-80.
-
(2013)
Fam Cancer
, vol.12
, pp. 175-180
-
-
Plazzer, J.P.1
Sijmons, R.H.2
Woods, M.O.3
-
32
-
-
4544310802
-
Mutations associated with HNPCC predisposition - Update of ICGHNPCC/INSiGHT mutation database
-
Peltomaki P, Vasen H. Mutations associated with HNPCC predisposition - Update of ICGHNPCC/INSiGHT mutation database. Dis Markers 2004;20:269-76.
-
(2004)
Dis Markers
, vol.20
, pp. 269-276
-
-
Peltomaki, P.1
Vasen, H.2
-
33
-
-
0030948865
-
Mutations predisposing to hereditary nonpolyposis colorectal cancer
-
Peltomaki P, de la Chapelle A. Mutations predisposing to hereditary nonpolyposis colorectal cancer. Adv Cancer Res 1997;71:93-119.
-
(1997)
Adv Cancer Res
, vol.71
, pp. 93-119
-
-
Peltomaki, P.1
De La Chapelle, A.2
-
34
-
-
35648938715
-
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes
-
Ou J, Niessen RC, Lutzen A, et al. Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. Hum Mutat 2007;28:1047-54.
-
(2007)
Hum Mutat
, vol.28
, pp. 1047-1054
-
-
Ou, J.1
Niessen, R.C.2
Lutzen, A.3
-
35
-
-
34447264031
-
A new variant database for mismatch repair genes associated with Lynch syndrome
-
Woods MO, Williams P, Careen A, et al. A new variant database for mismatch repair genes associated with Lynch syndrome. Hum Mutat 2007;28:669-73.
-
(2007)
Hum Mutat
, vol.28
, pp. 669-673
-
-
Woods, M.O.1
Williams, P.2
Careen, A.3
-
36
-
-
55549101314
-
Sequence variant classification and reporting: Recommendations for improving the interpretation of cancer susceptibility genetic test results
-
Plon SE, Eccles DM, Easton D, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008;29:1282-91.
-
(2008)
Hum Mutat
, vol.29
, pp. 1282-1291
-
-
Plon, S.E.1
Eccles, D.M.2
Easton, D.3
-
37
-
-
84871610122
-
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions
-
Thompson BA, Greenblatt MS, Vallee MP, et al. Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. Hum Mutat 2013;34:255-65.
-
(2013)
Hum Mutat
, vol.34
, pp. 255-265
-
-
Thompson, B.A.1
Greenblatt, M.S.2
Vallee, M.P.3
-
38
-
-
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 2014;46:107-15.
-
(2014)
Nat Genet
, vol.46
, pp. 107-115
-
-
Thompson, B.A.1
Spurdle, A.B.2
Plazzer, J.P.3
-
39
-
-
84863922124
-
Comprehensive molecular characterization of human colon and rectal cancer
-
Cancer Genome Atlas N. Comprehensive molecular characterization of human colon and rectal cancer. Nature 2012;487:330-7.
-
(2012)
Nature
, vol.487
, pp. 330-337
-
-
-
40
-
-
84860314426
-
Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: A literature review assessing utility of tumour features for MMR variant classification
-
Parsons MT, Buchanan DD, Thompson B, et al. Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification. J Med Genet 2012;49:151-7.
-
(2012)
J Med Genet
, vol.49
, pp. 151-157
-
-
Parsons, M.T.1
Buchanan, D.D.2
Thompson, B.3
-
41
-
-
84889097025
-
BRAF mutation in sporadic colorectal cancer and Lynch syndrome
-
Thiel A, Heinonen M, Kantonen J, et al. BRAF mutation in sporadic colorectal cancer and Lynch syndrome. Virchows Arch 2013;463:613-21.
-
(2013)
Virchows Arch
, vol.463
, pp. 613-621
-
-
Thiel, A.1
Heinonen, M.2
Kantonen, J.3
-
42
-
-
84868144489
-
Stratification and prognostic relevance of jass's molecular classification of colorectal cancer
-
Zlobec I, Bihl MP, Foerster A, et al. Stratification and prognostic relevance of jass's molecular classification of colorectal cancer. Front Oncol 2012;2:7.
-
(2012)
Front Oncol
, vol.2
, pp. 7
-
-
Zlobec, I.1
Bihl, M.P.2
Foerster, A.3
-
43
-
-
0037447157
-
The role of hMLH3 in familial colorectal cancer
-
Liu HX, Zhou XL, Liu T, et al. The role of hMLH3 in familial colorectal cancer. Cancer Res 2003;63:1894-9.
-
(2003)
Cancer Res
, vol.63
, pp. 1894-1899
-
-
Liu, H.X.1
Zhou, X.L.2
Liu, T.3
-
44
-
-
0030870631
-
Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred
-
Akiyama Y, Sato H, Yamada T, et al. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 1997;57:3920-3.
-
(1997)
Cancer Res
, vol.57
, pp. 3920-3923
-
-
Akiyama, Y.1
Sato, H.2
Yamada, T.3
-
45
-
-
0033971669
-
Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer
-
Plaschke J, Kruppa C, Tischler R, et al. Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer. Int J Cancer 2000;85:606-13.
-
(2000)
Int J Cancer
, vol.85
, pp. 606-613
-
-
Plaschke, J.1
Kruppa, C.2
Tischler, R.3
-
46
-
-
0033361894
-
Association of hereditary nonpolyposis colorectal cancerrelated tumors displaying low microsatellite instability with MSH6 germline mutations
-
Wu Y, Berends MJ, Mensink RG, et al. Association of hereditary nonpolyposis colorectal cancerrelated tumors displaying low microsatellite instability with MSH6 germline mutations. Am J Hum Genet 1999;65:1291-8.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1291-1298
-
-
Wu, Y.1
Berends, M.J.2
Mensink, R.G.3
-
47
-
-
76349108011
-
Risks of Lynch syndrome cancers for MSH6 mutation carriers
-
Baglietto L, Lindor NM, Dowty JG, et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst 2010;102:193-201.
-
(2010)
J Natl Cancer Inst
, vol.102
, pp. 193-201
-
-
Baglietto, L.1
Lindor, N.M.2
Dowty, J.G.3
-
48
-
-
84899456187
-
Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: A comprehensive analysis of 3,671 families
-
Steinke V, Holzapfel S, Loeffler M, et al. Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: a comprehensive analysis of 3,671 families. Int J Cancer 2014;135:69-77.
-
(2014)
Int J Cancer
, vol.135
, pp. 69-77
-
-
Steinke, V.1
Holzapfel, S.2
Loeffler, M.3
-
49
-
-
84876071726
-
Multiplex genetic testing for cancer susceptibility: Out on the high wire without a net?
-
Domchek SM, Bradbury A, Garber JE, et al. Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J Clin Oncol 2013;31:1267-70.
-
(2013)
J Clin Oncol
, vol.31
, pp. 1267-1270
-
-
Domchek, S.M.1
Bradbury, A.2
Garber, J.E.3
|