-
1
-
-
46449092873
-
Hereditary colorectal cancer syndromes: Molecular genetics, genetic counseling, diagnosis and management
-
H.T. Lynch, J.F. Lynch, P.M. Lynch, and T. Attard Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management Fam Cancer 7 1 2008 27 39
-
(2008)
Fam Cancer
, vol.7
, Issue.1
, pp. 27-39
-
-
Lynch, H.T.1
Lynch, J.F.2
Lynch, P.M.3
Attard, T.4
-
2
-
-
84880922941
-
A hundred years of Lynch syndrome research (1913-2013)
-
H.F. Vasen, and W.H. de Vos Tot Nederveen Cappel A hundred years of Lynch syndrome research (1913-2013) Fam Cancer 12 2 2013 141 142
-
(2013)
Fam Cancer
, vol.12
, Issue.2
, pp. 141-142
-
-
Vasen, H.F.1
De Vos Tot Nederveen Cappel, W.H.2
-
3
-
-
77954367535
-
Methylation analysis of MLH1 improves the selection of patients for genetic testing in Lynch syndrome
-
L. Perez-Carbonell, C. Alenda, and A. Paya et al. Methylation analysis of MLH1 improves the selection of patients for genetic testing in Lynch syndrome J Mol Diagn 12 4 2010 498 504
-
(2010)
J Mol Diagn
, vol.12
, Issue.4
, pp. 498-504
-
-
Perez-Carbonell, L.1
Alenda, C.2
Paya, A.3
-
4
-
-
84863716549
-
MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: A cost-effectiveness study
-
M. Gausachs, P. Mur, and J. Corral et al. MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study Eur J Hum Genet 20 7 2012 762 768
-
(2012)
Eur J Hum Genet
, vol.20
, Issue.7
, pp. 762-768
-
-
Gausachs, M.1
Mur, P.2
Corral, J.3
-
5
-
-
84867499525
-
Identification of Lynch syndrome among patients with colorectal cancer
-
L. Moreira, F. Balaguer, and N. Lindor et al. Identification of Lynch syndrome among patients with colorectal cancer JAMA 308 15 2012 1555 1565
-
(2012)
JAMA
, vol.308
, Issue.15
, pp. 1555-1565
-
-
Moreira, L.1
Balaguer, F.2
Lindor, N.3
-
6
-
-
0033591855
-
Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: Implications for clinical predisposition testing
-
S. Syngal, E.A. Fox, and C. Li et al. Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing JAMA 282 3 1999 247 253
-
(1999)
JAMA
, vol.282
, Issue.3
, pp. 247-253
-
-
Syngal, S.1
Fox, E.A.2
Li, C.3
-
7
-
-
16644378293
-
Refining the Amsterdam Criteria and Bethesda Guidelines: Testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic
-
L.R. Lipton, V. Johnson, and C. Cummings et al. Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic J Clin Oncol 22 24 2004 4934 4943
-
(2004)
J Clin Oncol
, vol.22
, Issue.24
, pp. 4934-4943
-
-
Lipton, L.R.1
Johnson, V.2
Cummings, C.3
-
8
-
-
22944433733
-
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1721 German families suspected of hereditary nonpolyposis colorectal cancer
-
E. Mangold, C. Pagenstecher, and W. Friedl et al. Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1721 German families suspected of hereditary nonpolyposis colorectal cancer Int J Cancer 116 5 2005 692 702
-
(2005)
Int J Cancer
, vol.116
, Issue.5
, pp. 692-702
-
-
Mangold, E.1
Pagenstecher, C.2
Friedl, W.3
-
9
-
-
33847789751
-
Toward a consensus in molecular diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome)
-
H.T. Lynch, J.F. Lynch, and P.M. Lynch Toward a consensus in molecular diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome) J Natl Cancer Inst 99 4 2007 261 263
-
(2007)
J Natl Cancer Inst
, vol.99
, Issue.4
, pp. 261-263
-
-
Lynch, H.T.1
Lynch, J.F.2
Lynch, P.M.3
-
10
-
-
70149086692
-
Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases
-
J. Mueller, I. Gazzoli, P. Bandipalliam, J.E. Garber, S. Syngal, and R.D. Kolodner Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases Cancer Res 69 17 2009 7053 7061
-
(2009)
Cancer Res
, vol.69
, Issue.17
, pp. 7053-7061
-
-
Mueller, J.1
Gazzoli, I.2
Bandipalliam, P.3
Garber, J.E.4
Syngal, S.5
Kolodner, R.D.6
-
11
-
-
84876492979
-
Risk of cancer in cases of suspected lynch syndrome without germline mutation
-
926-32 e1; quiz e13-4
-
M. Rodriguez-Soler, L. Perez-Carbonell, and C. Guarinos et al. Risk of cancer in cases of suspected lynch syndrome without germline mutation Gastroenterology 144 5 2013 926-32 e1; quiz e13-4
-
(2013)
Gastroenterology
, vol.144
, Issue.5
-
-
Rodriguez-Soler, M.1
Perez-Carbonell, L.2
Guarinos, C.3
-
12
-
-
84952875436
-
MUTYH-associated polyposis
-
R.A. Pagon, M.P. Adam, T.D. Bird, University of Washington, Seattle Seattle, WA
-
R. Brand, M. Nielsen, H. Lynch, and E. Infante MUTYH-associated polyposis R.A. Pagon, M.P. Adam, T.D. Bird, GeneReviews™ [Internet] 1993-2014 University of Washington, Seattle Seattle, WA
-
(1993)
GeneReviews™ [Internet]
-
-
Brand, R.1
Nielsen, M.2
Lynch, H.3
Infante, E.4
-
13
-
-
79957967884
-
MUTYH-associated polyposis (MAP)
-
M. Nielsen, H. Morreau, H.F. Vasen, and F.J. Hes MUTYH-associated polyposis (MAP) Crit Rev Oncol/Hematol 79 1 2011 1 16
-
(2011)
Crit Rev Oncol/Hematol
, vol.79
, Issue.1
, pp. 1-16
-
-
Nielsen, M.1
Morreau, H.2
Vasen, H.F.3
Hes, F.J.4
-
14
-
-
0037192812
-
Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6
-
Y. Gu, A. Parker, T.M. Wilson, H. Bai, D.Y. Chang, and A.L. Lu Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6 J Biol Chem 277 13 2002 11135 11142
-
(2002)
J Biol Chem
, vol.277
, Issue.13
, pp. 11135-11142
-
-
Gu, Y.1
Parker, A.2
Wilson, T.M.3
Bai, H.4
Chang, D.Y.5
Lu, A.L.6
-
15
-
-
47749140060
-
Pathological features of colorectal carcinomas in MYH-associated polyposis
-
A.M. O'Shea, S.P. Cleary, and M.A. Croitoru et al. Pathological features of colorectal carcinomas in MYH-associated polyposis Histopathology 53 2 2008 184 194
-
(2008)
Histopathology
, vol.53
, Issue.2
, pp. 184-194
-
-
O'Shea, A.M.1
Cleary, S.P.2
Croitoru, M.A.3
-
16
-
-
69849112388
-
Clinical implications of the colorectal cancer risk associated with MUTYH mutation
-
S.J. Lubbe, M.C. Di Bernardo, I.P. Chandler, and R.S. Houlston Clinical implications of the colorectal cancer risk associated with MUTYH mutation J Clin Oncol 27 24 2009 3975 3980
-
(2009)
J Clin Oncol
, vol.27
, Issue.24
, pp. 3975-3980
-
-
Lubbe, S.J.1
Di Bernardo, M.C.2
Chandler, I.P.3
Houlston, R.S.4
-
17
-
-
67650751794
-
Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas
-
M. Nielsen, N.F. de Miranda, and M. van Puijenbroek et al. Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas BMC Cancer 9 2009 184
-
(2009)
BMC Cancer
, vol.9
, pp. 184
-
-
Nielsen, M.1
De Miranda, N.F.2
Van Puijenbroek, M.3
-
18
-
-
62949228316
-
Germline MutY human homologue mutations and colorectal cancer: A multisite case-control study
-
S.P. Cleary, M. Cotterchio, and M.A. Jenkins et al. Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study Gastroenterology 136 4 2009 1251 1260
-
(2009)
Gastroenterology
, vol.136
, Issue.4
, pp. 1251-1260
-
-
Cleary, S.P.1
Cotterchio, M.2
Jenkins, M.A.3
-
19
-
-
33750433538
-
The role of MYH and microsatellite instability in the development of sporadic colorectal cancer
-
A. Colebatch, M. Hitchins, R. Williams, A. Meagher, N.J. Hawkins, and R.L. Ward The role of MYH and microsatellite instability in the development of sporadic colorectal cancer Br J Cancer 95 9 2006 1239 1243
-
(2006)
Br J Cancer
, vol.95
, Issue.9
, pp. 1239-1243
-
-
Colebatch, A.1
Hitchins, M.2
Williams, R.3
Meagher, A.4
Hawkins, N.J.5
Ward, R.L.6
-
20
-
-
78650186816
-
MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions
-
J.H. Lefevre, C. Colas, and F. Coulet et al. MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions Fam Cancer 9 4 2010 589 594
-
(2010)
Fam Cancer
, vol.9
, Issue.4
, pp. 589-594
-
-
Lefevre, J.H.1
Colas, C.2
Coulet, F.3
-
21
-
-
84908553713
-
Biallelic MUTYH mutations can mimic Lynch syndrome
-
10.1038/ejhg.2014.15 [Epub ahead of print]
-
M. Morak, B. Heidenreich, and G. Keller et al. Biallelic MUTYH mutations can mimic Lynch syndrome Eur J Hum Genet 2014 10.1038/ejhg.2014.15 [Epub ahead of print]
-
(2014)
Eur J Hum Genet
-
-
Morak, M.1
Heidenreich, B.2
Keller, G.3
-
22
-
-
84895789502
-
Application of a 5-tiered scheme for standardized classification of 2360 unique mismatch repair gene variants in the InSiGHT locus-specific database
-
B.A. Thompson, A.B. Spurdle, and J.P. Plazzer et al. Application of a 5-tiered scheme for standardized classification of 2360 unique mismatch repair gene variants in the InSiGHT locus-specific database Nat Genet 46 2 2013 107 115
-
(2013)
Nat Genet
, vol.46
, Issue.2
, pp. 107-115
-
-
Thompson, B.A.1
Spurdle, A.B.2
Plazzer, J.P.3
-
23
-
-
67649836973
-
Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: A different spectrum of mutations?
-
N. Gomez-Fernandez, S. Castellvi-Bel, and C. Fernandez-Rozadilla et al. Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? BMC Med Genet 10 2009 57
-
(2009)
BMC Med Genet
, vol.10
, pp. 57
-
-
Gomez-Fernandez, N.1
Castellvi-Bel, S.2
Fernandez-Rozadilla, C.3
-
24
-
-
84865712699
-
Nanofluidic digital PCR for KRAS mutation detection and quantification in gastrointestinal cancer
-
D. Azuara, M.M. Ginesta, and M. Gausachs et al. Nanofluidic digital PCR for KRAS mutation detection and quantification in gastrointestinal cancer Clin Chem 58 9 2012 1332 1341
-
(2012)
Clin Chem
, vol.58
, Issue.9
, pp. 1332-1341
-
-
Azuara, D.1
Ginesta, M.M.2
Gausachs, M.3
-
25
-
-
33947280508
-
Identification of MYH mutation carriers in colorectal cancer: A multicenter, case-control, population-based study
-
F. Balaguer, S. Castellvi-Bel, and A. Castells et al. Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study Clin Gastroenterol Hepatol 5 3 2007 379 387
-
(2007)
Clin Gastroenterol Hepatol
, vol.5
, Issue.3
, pp. 379-387
-
-
Balaguer, F.1
Castellvi-Bel, S.2
Castells, A.3
-
26
-
-
77955057944
-
Biallelic MYH germline mutations as cause of Muir-Torre syndrome
-
C. Guillen-Ponce, A. Castillejo, and V.M. Barbera et al. Biallelic MYH germline mutations as cause of Muir-Torre syndrome Fam Cancer 9 2 2010 151 154
-
(2010)
Fam Cancer
, vol.9
, Issue.2
, pp. 151-154
-
-
Guillen-Ponce, C.1
Castillejo, A.2
Barbera, V.M.3
-
27
-
-
0035444798
-
Kirsten ras mutations in patients with colorectal cancer: The 'RASCAL II' study
-
H.J. Andreyev, A.R. Norman, and D. Cunningham et al. Kirsten ras mutations in patients with colorectal cancer: the 'RASCAL II' study Br J Cancer 85 5 2001 692 696
-
(2001)
Br J Cancer
, vol.85
, Issue.5
, pp. 692-696
-
-
Andreyev, H.J.1
Norman, A.R.2
Cunningham, D.3
-
28
-
-
40749120502
-
Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G>T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue
-
M. van Puijenbroek, M. Nielsen, and C.M. Tops et al. Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G>T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue Clin Cancer Res 14 1 2008 139 142
-
(2008)
Clin Cancer Res
, vol.14
, Issue.1
, pp. 139-142
-
-
Van Puijenbroek, M.1
Nielsen, M.2
Tops, C.M.3
-
29
-
-
84894353372
-
Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in lynch syndrome-like tumors
-
A.R. Mensenkamp, I.P. Vogelaar, and W.A. van Zelst-Stams et al. Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in lynch syndrome-like tumors Gastroenterology 2014
-
(2014)
Gastroenterology
-
-
Mensenkamp, A.R.1
Vogelaar, I.P.2
Van Zelst-Stams, W.A.3
-
30
-
-
84873409763
-
Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: Case-series and literature review
-
A.P. Knopperts, M. Nielsen, and R.C. Niessen et al. Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review Fam Cancer 12 1 2013 43 50
-
(2013)
Fam Cancer
, vol.12
, Issue.1
, pp. 43-50
-
-
Knopperts, A.P.1
Nielsen, M.2
Niessen, R.C.3
-
31
-
-
3242689475
-
MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps
-
L. Wang, L.M. Baudhuin, and L.A. Boardman et al. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps Gastroenterology 127 1 2004 9 16
-
(2004)
Gastroenterology
, vol.127
, Issue.1
, pp. 9-16
-
-
Wang, L.1
Baudhuin, L.M.2
Boardman, L.A.3
-
32
-
-
78349250964
-
MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer
-
M.D. Giraldez, F. Balaguer, and L. Bujanda et al. MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer Clin Cancer Res 16 22 2010 5402 5413
-
(2010)
Clin Cancer Res
, vol.16
, Issue.22
, pp. 5402-5413
-
-
Giraldez, M.D.1
Balaguer, F.2
Bujanda, L.3
-
33
-
-
84880132096
-
Colorectal cancer in a monoallelic MYH mutation carrier
-
R. Khalaf, C. Jones, W. Strutt, and P. Williamson Colorectal cancer in a monoallelic MYH mutation carrier J Gastrointest Surg 17 8 2013 1500 1502
-
(2013)
J Gastrointest Surg
, vol.17
, Issue.8
, pp. 1500-1502
-
-
Khalaf, R.1
Jones, C.2
Strutt, W.3
Williamson, P.4
-
34
-
-
80052266917
-
Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer
-
A.K. Win, S.P. Cleary, and J.G. Dowty et al. Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer Int J Cancer 129 9 2011 2256 2262
-
(2011)
Int J Cancer
, vol.129
, Issue.9
, pp. 2256-2262
-
-
Win, A.K.1
Cleary, S.P.2
Dowty, J.G.3
-
35
-
-
7944225535
-
Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk
-
M.E. Croitoru, S.P. Cleary, and N. Di Nicola et al. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk J Natl Cancer Inst 96 21 2004 1631 1634
-
(2004)
J Natl Cancer Inst
, vol.96
, Issue.21
, pp. 1631-1634
-
-
Croitoru, M.E.1
Cleary, S.P.2
Di Nicola, N.3
-
36
-
-
84891673192
-
Genetic variants associated with colorectal cancer risk: Comprehensive research synopsis, meta-analysis, and epidemiological evidence
-
X. Ma, B. Zhang, and W. Zheng Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence Gut 63 2 2013 326 336
-
(2013)
Gut
, vol.63
, Issue.2
, pp. 326-336
-
-
Ma, X.1
Zhang, B.2
Zheng, W.3
-
37
-
-
84883635842
-
Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility
-
S. Picelli, J. Lorenzo Bermejo, and J. Chang-Claude et al. Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility PloS one 8 9 2013 e72091
-
(2013)
PloS One
, vol.8
, Issue.9
, pp. 72091
-
-
Picelli, S.1
Lorenzo Bermejo, J.2
Chang-Claude, J.3
-
38
-
-
77949487616
-
Common variants in human CRC genes as low-risk alleles
-
S. Picelli, P. Zajac, and X.L. Zhou et al. Common variants in human CRC genes as low-risk alleles Eur J Cancer 46 6 2010 1041 1048
-
(2010)
Eur J Cancer
, vol.46
, Issue.6
, pp. 1041-1048
-
-
Picelli, S.1
Zajac, P.2
Zhou, X.L.3
-
39
-
-
84868617486
-
Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells
-
A.G. Raetz, Y. Xie, S. Kundu, M.K. Brinkmeyer, C. Chang, and S.S. David Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells Carcinogenesis 33 11 2012 2301 2309
-
(2012)
Carcinogenesis
, vol.33
, Issue.11
, pp. 2301-2309
-
-
Raetz, A.G.1
Xie, Y.2
Kundu, S.3
Brinkmeyer, M.K.4
Chang, C.5
David, S.S.6
-
40
-
-
84876552334
-
Understanding the role of the Q338H MUTYH variant in oxidative damage repair
-
E. Turco, I. Ventura, and A. Minoprio et al. Understanding the role of the Q338H MUTYH variant in oxidative damage repair Nucl Acids Res 41 7 2013 4093 4103
-
(2013)
Nucl Acids Res
, vol.41
, Issue.7
, pp. 4093-4103
-
-
Turco, E.1
Ventura, I.2
Minoprio, A.3
|