-
1
-
-
55549101314
-
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
-
10.1002/humu.20880, 18951446, IARC Unclassified Genetic Variants Working Group
-
Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV, . IARC Unclassified Genetic Variants Working Group Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008, 29:1282-1291. 10.1002/humu.20880, 18951446, IARC Unclassified Genetic Variants Working Group.
-
(2008)
Hum Mutat
, vol.29
, pp. 1282-1291
-
-
Plon, S.E.1
Eccles, D.M.2
Easton, D.3
Foulkes, W.D.4
Genuardi, M.5
Greenblatt, M.S.6
Hogervorst, F.B.7
Hoogerbrugge, N.8
Spurdle, A.B.9
Tavtigian, S.V.10
-
2
-
-
34147116715
-
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies
-
10.1086/513473, 1852724, 17357078
-
Kryukov GV, Pennacchio LA, Sunyaev SR. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet 2007, 80:727-739. 10.1086/513473, 1852724, 17357078.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 727-739
-
-
Kryukov, G.V.1
Pennacchio, L.A.2
Sunyaev, S.R.3
-
3
-
-
55549137442
-
Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
-
IARC Unclassified Genetic Variants Working Group
-
Goldgar DE, Easton DF, Byrnes GB, Spurdle AB, Iversen ES, Greenblatt MS, . IARC Unclassified Genetic Variants Working Group Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Human Mutat 2008, 29:1265-1272. IARC Unclassified Genetic Variants Working Group.
-
(2008)
Human Mutat
, vol.29
, pp. 1265-1272
-
-
Goldgar, D.E.1
Easton, D.F.2
Byrnes, G.B.3
Spurdle, A.B.4
Iversen, E.S.5
Greenblatt, M.S.6
-
4
-
-
0037422027
-
Hereditary colorectal cancer
-
10.1056/NEJMra012242, 12621137
-
Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med 2003, 348:919-932. 10.1056/NEJMra012242, 12621137.
-
(2003)
N Engl J Med
, vol.348
, pp. 919-932
-
-
Lynch, H.T.1
de la Chapelle, A.2
-
5
-
-
33646196845
-
Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications
-
10.1038/sj.ejhg.5201584, 16479259
-
Lynch HT, Boland CR, Gong G, Shaw TG, Lynch PM, Fodde R, Lynch JF, de la Chapelle A. Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications. Eur J Hum Genet 2006, 14:390-402. 10.1038/sj.ejhg.5201584, 16479259.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 390-402
-
-
Lynch, H.T.1
Boland, C.R.2
Gong, G.3
Shaw, T.G.4
Lynch, P.M.5
Fodde, R.6
Lynch, J.F.7
de la Chapelle, A.8
-
6
-
-
4544310802
-
Mutations associated with HNPCC predisposition-Update of ICG-HNPCC/INSiGHT mutation database
-
Peltomaki P, Vasen H. Mutations associated with HNPCC predisposition-Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 2004, 20:269-276.
-
(2004)
Dis Markers
, vol.20
, pp. 269-276
-
-
Peltomaki, P.1
Vasen, H.2
-
7
-
-
20244386395
-
Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer
-
Gastrointestinal Oncology Group of the Spanish Gastroenterological Association
-
Piñol V, Castells A, Andreu M, Castellví-Bel S, Alenda C, Llor X, Xicola RM, Rodríguez-Moranta F, Payá A, Jover R, Bessa X, . Gastrointestinal Oncology Group of the Spanish Gastroenterological Association Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 2005, 293:1986-1994. Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.
-
(2005)
JAMA
, vol.293
, pp. 1986-1994
-
-
Piñol, V.1
Castells, A.2
Andreu, M.3
Castellví-Bel, S.4
Alenda, C.5
Llor, X.6
Xicola, R.M.7
Rodríguez-Moranta, F.8
Payá, A.9
Jover, R.10
Bessa, X.11
-
8
-
-
33644819186
-
Multipopulation analysis of polymorphisms in five mononucleotide repeats used to determine the microsatellite instability status of human tumors
-
10.1200/JCO.2005.02.7227, 16330668
-
Buhard O, Cattaneo F, Wong YF, Yim SF, Friedman E, Flejou JF, Duval A, Hamelin R. Multipopulation analysis of polymorphisms in five mononucleotide repeats used to determine the microsatellite instability status of human tumors. J Clin Oncol 2006, 24:241-251. 10.1200/JCO.2005.02.7227, 16330668.
-
(2006)
J Clin Oncol
, vol.24
, pp. 241-251
-
-
Buhard, O.1
Cattaneo, F.2
Wong, Y.F.3
Yim, S.F.4
Friedman, E.5
Flejou, J.F.6
Duval, A.7
Hamelin, R.8
-
9
-
-
38949099144
-
The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation
-
10.1002/humu.9523, 18205192
-
Perera S, Bapat B. The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation. Hum Mutat 2008, 29:332. 10.1002/humu.9523, 18205192.
-
(2008)
Hum Mutat
, vol.29
, pp. 332
-
-
Perera, S.1
Bapat, B.2
-
10
-
-
33745281285
-
Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features
-
10.1038/sj.ejhg.5201628, 16724012
-
Belvederesi L, Bianchi F, Loretelli C, Gagliardini D, Galizia E, Bracci R, Rosati S, Bearzi I, Viel A, Cellerino R, Porfiri E. Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features. Eur J Hum Genet 2006, 14:853-859. 10.1038/sj.ejhg.5201628, 16724012.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 853-859
-
-
Belvederesi, L.1
Bianchi, F.2
Loretelli, C.3
Gagliardini, D.4
Galizia, E.5
Bracci, R.6
Rosati, S.7
Bearzi, I.8
Viel, A.9
Cellerino, R.10
Porfiri, E.11
-
11
-
-
47149097787
-
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects
-
10.1002/humu.20796, 18561205
-
Tournier I, Vezain M, Martins A, Charbonnier F, Baert-Desurmont S, Olschwang S, Wang Q, Buisine MP, Soret J, Tazi J, Frébourg T, Tosi M. A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. Hum Mutat 2008, 29:1412-1424. 10.1002/humu.20796, 18561205.
-
(2008)
Hum Mutat
, vol.29
, pp. 1412-1424
-
-
Tournier, I.1
Vezain, M.2
Martins, A.3
Charbonnier, F.4
Baert-Desurmont, S.5
Olschwang, S.6
Wang, Q.7
Buisine, M.P.8
Soret, J.9
Tazi, J.10
Frébourg, T.11
Tosi, M.12
-
12
-
-
40549109545
-
Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer
-
10.1002/humu.20635, 18033691
-
Barnetson RA, Cartwright N, van Vliet A, Haq N, Drew K, Farrington S, Williams N, Warner J, Campbell H, Porteous ME, Dunlop MG. Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. Hum Mutat 2008, 29:367-374. 10.1002/humu.20635, 18033691.
-
(2008)
Hum Mutat
, vol.29
, pp. 367-374
-
-
Barnetson, R.A.1
Cartwright, N.2
van Vliet, A.3
Haq, N.4
Drew, K.5
Farrington, S.6
Williams, N.7
Warner, J.8
Campbell, H.9
Porteous, M.E.10
Dunlop, M.G.11
-
13
-
-
45849101685
-
The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population
-
10.1186/1471-2350-9-52, 2438340, 18547406
-
Christensen LL, Madsen BE, Wikman FP, Wiuf C, Koed K, Tjønneland A, Olsen A, Syvänen AC, Andersen CL, Orntoft TF. The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population. BMC Med Genet 2008, 9:52. 10.1186/1471-2350-9-52, 2438340, 18547406.
-
(2008)
BMC Med Genet
, vol.9
, pp. 52
-
-
Christensen, L.L.1
Madsen, B.E.2
Wikman, F.P.3
Wiuf, C.4
Koed, K.5
Tjønneland, A.6
Olsen, A.7
Syvänen, A.C.8
Andersen, C.L.9
Orntoft, T.F.10
-
14
-
-
0032756655
-
Missense mutations in hMLH1 associated with colorectal cancer
-
10.1007/s004390051127, 10598809
-
Liu T, Tannergard P, Hackman P, Rubio C, Kressner U, Lindmark G, Hellgren D, Lambert B, Lindblom A. Missense mutations in hMLH1 associated with colorectal cancer. Hum Genet 1999, 105:437-441. 10.1007/s004390051127, 10598809.
-
(1999)
Hum Genet
, vol.105
, pp. 437-441
-
-
Liu, T.1
Tannergard, P.2
Hackman, P.3
Rubio, C.4
Kressner, U.5
Lindmark, G.6
Hellgren, D.7
Lambert, B.8
Lindblom, A.9
-
15
-
-
42649113403
-
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients
-
10.1038/ejhg.2008.26, 18301448, German HNPCC Consortium
-
Steinke V, Rahner N, Morak M, Keller G, Schackert HK, Görgens H, Schmiegel W, Royer-Pokora B, Dietmaier W, Kloor M, Engel C, Propping P, Aretz S, . German HNPCC Consortium No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. Eur J Hum Genet 2008, 16:587-592. 10.1038/ejhg.2008.26, 18301448, German HNPCC Consortium.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 587-592
-
-
Steinke, V.1
Rahner, N.2
Morak, M.3
Keller, G.4
Schackert, H.K.5
Görgens, H.6
Schmiegel, W.7
Royer-Pokora, B.8
Dietmaier, W.9
Kloor, M.10
Engel, C.11
Propping, P.12
Aretz, S.13
-
16
-
-
8644235804
-
Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas
-
10.1073/pnas.0407187101, 528777, 15520370
-
Fearnhead NS, Wilding JL, Winney B, Tonks S, Bartlett S, Bicknell DC, Tomlinson IP, Mortensen NJ, Bodmer WF. Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas. Proc Natl Acad Sci USA 2004, 101:15992-15997. 10.1073/pnas.0407187101, 528777, 15520370.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 15992-15997
-
-
Fearnhead, N.S.1
Wilding, J.L.2
Winney, B.3
Tonks, S.4
Bartlett, S.5
Bicknell, D.C.6
Tomlinson, I.P.7
Mortensen, N.J.8
Bodmer, W.F.9
|