-
1
-
-
59849108362
-
Recommendations from the EGAPP Working Group: Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives
-
Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet. Med. 11(1), 35-41 (2009).
-
(2009)
Genet. Med.
, vol.11
, Issue.1
, pp. 35-41
-
-
-
2
-
-
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. 11(1), 3-14 (2009).
-
(2009)
Genet. Med.
, vol.11
, Issue.1
, pp. 3-14
-
-
Teutsch, S.M.1
Bradley, L.A.2
Palomaki, G.E.3
-
3
-
-
0029862873
-
Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis
-
Vasen HF, Wijnen JT, Menko FH et al.. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 110(4), 1020-1027 (1996).
-
(1996)
Gastroenterology
, vol.110
, Issue.4
, pp. 1020-1027
-
-
Vasen, H.F.1
Wijnen, J.T.2
Menko, F.H.3
-
4
-
-
0035761351
-
Cancer risk in mismatch repair gene mutation carriers
-
Watson P, Lynch HT. Cancer risk in mismatch repair gene mutation carriers. Fam. Cancer 1(1), 57-60 (2001).
-
(2001)
Fam. Cancer
, vol.1
, Issue.1
, pp. 57-60
-
-
Watson, P.1
Lynch, H.T.2
-
5
-
-
23244443650
-
Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: Later age of onset
-
Hampel H, Stephens JA, Pukkala E et al.. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology 129(2), 415-421 (2005).
-
(2005)
Gastroenterology
, vol.129
, Issue.2
, pp. 415-421
-
-
Hampel, H.1
Stephens, J.A.2
Pukkala, E.3
-
6
-
-
34250715384
-
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
-
Vasen HF, Möslein G, Alonso A et al.. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J. Med. Genet. 44(6), 353-362 (2007).
-
(2007)
J. Med. Genet.
, vol.44
, Issue.6
, pp. 353-362
-
-
Vasen, H.F.1
Möslein, G.2
Alonso, A.3
-
7
-
-
54049097208
-
Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United States
-
Kastrinos F, Stoffel EM, Balmaña J, Steyerberg EW, Mercado R, Syngal S. Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United States. Cancer Epidemiol. Biomarkers Prev. 17(8), 2044-2051 (2008).
-
(2008)
Cancer Epidemiol. Biomarkers Prev.
, vol.17
, Issue.8
, pp. 2044-2051
-
-
Kastrinos, F.1
Stoffel, E.M.2
Balmaña, J.3
Steyerberg, E.W.4
Mercado, R.5
Syngal, S.6
-
8
-
-
70350090521
-
Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome
-
Stoffel E, Mukherjee B, Raymond VM et al.. Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology 137(5), 1621-1627 (2009).
-
(2009)
Gastroenterology
, vol.137
, Issue.5
, pp. 1621-1627
-
-
Stoffel, E.1
Mukherjee, B.2
Raymond, V.M.3
-
9
-
-
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. 102(3), 193-201 (2010).
-
(2010)
J. Natl Cancer Inst.
, vol.102
, Issue.3
, pp. 193-201
-
-
Baglietto, L.1
Lindor, N.M.2
Dowty, J.G.3
-
10
-
-
48549099663
-
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
-
Senter L, Clendenning M, Sotamaa K et al.. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 135(2), 419-428 (2008).
-
(2008)
Gastroenterology
, vol.135
, Issue.2
, pp. 419-428
-
-
Senter, L.1
Clendenning, M.2
Sotamaa, K.3
-
11
-
-
0033897383
-
Risk of gastric cancer in hereditary nonpolyposis colorectal cancer in Korea
-
Park YJ, Shin KH, Park JG. Risk of gastric cancer in hereditary nonpolyposis colorectal cancer in Korea. Clin. Cancer Res. 6(8), 2994-2998 (2000).
-
(2000)
Clin. Cancer Res.
, vol.6
, Issue.8
, pp. 2994-2998
-
-
Park, Y.J.1
Shin, K.H.2
Park, J.G.3
-
12
-
-
59849129653
-
EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome
-
Palomaki GE, McClain MR, Melillo S, Hampel HL, Thibodeau SN. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet. Med. 11(1), 42-65 (2009).
-
(2009)
Genet. Med.
, vol.11
, Issue.1
, pp. 42-65
-
-
Palomaki, G.E.1
McClain, M.R.2
Melillo, S.3
Hampel, H.L.4
Thibodeau, S.N.5
-
13
-
-
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. 63(8), 1894-1899 (2003).
-
(2003)
Cancer Res
, vol.63
, Issue.8
, pp. 1894-1899
-
-
Liu, H.X.1
Zhou, X.L.2
Liu, T.3
-
14
-
-
0034743983
-
Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms
-
Wu Y, Berends MJ, Post JG et al.. Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms. Gastroenterology 120(7), 1580-1587 (2001).
-
(2001)
Gastroenterology
, vol.120
, Issue.7
, pp. 1580-1587
-
-
Wu, Y.1
Berends, M.J.2
Post, J.G.3
-
15
-
-
0034011564
-
Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer
-
Järvinen HJ, Aarnio M, Mustonen H et al.. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 118(5), 829-834 (2000).
-
(2000)
Gastroenterology
, vol.118
, Issue.5
, pp. 829-834
-
-
Järvinen, H.J.1
Aarnio, M.2
Mustonen, H.3
-
16
-
-
0025765332
-
Cancer and the family history trail
-
Lynch HT. Cancer and the family history trail. NY State J. Med. 91, 145-147 (1991).
-
(1991)
NY State J. Med.
, vol.91
, pp. 145-147
-
-
Lynch, H.T.1
-
17
-
-
0035361301
-
Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC)
-
Loukola A, Eklin K, Laiho P et al.. Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC). Cancer Res. 61, 4545-4549 (2001).
-
(2001)
Cancer Res
, vol.61
, pp. 4545-4549
-
-
Loukola, A.1
Eklin, K.2
Laiho, P.3
-
18
-
-
6444245757
-
The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) - Results of an international collaborative study
-
Müller W, Burgart LJ, Krause-Paulus R et al.. The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) - results of an international collaborative study. Fam. Cancer 1, 87-93 (2001).
-
(2001)
Fam. Cancer
, vol.1
, pp. 87-93
-
-
Müller, W.1
Burgart, L.J.2
Krause-Paulus, R.3
-
19
-
-
74549208765
-
Hereditary with reference to carcinoma
-
Warthin A. Hereditary with reference to carcinoma. Arch. Intern. Med. 12, 546-555 (1913).
-
(1913)
Arch. Intern. Med.
, vol.12
, pp. 546-555
-
-
Warthin, A.1
-
20
-
-
0013878809
-
Hereditary factors in cancer. Study of two large midwestern kindreds
-
Lynch HT, Shaw MW, Magnuson CW, Larsen AL, Krush AJ. Hereditary factors in cancer. Study of two large midwestern kindreds. Arch. Intern. Med. 117, 206-212 (1966).
-
(1966)
Arch. Intern. Med.
, vol.117
, pp. 206-212
-
-
Lynch, H.T.1
Shaw, M.W.2
Magnuson, C.W.3
Larsen, A.L.4
Krush, A.J.5
-
21
-
-
0025848680
-
The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC)
-
Vasen HF, Mecklin JP, Khan PM, Lynch HT. The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis. Colon Rectum 34(5), 424-425 (1991).
-
(1991)
Dis. Colon Rectum
, vol.34
, Issue.5
, pp. 424-425
-
-
Vasen, H.F.1
Mecklin, J.P.2
Khan, P.M.3
Lynch, H.T.4
-
22
-
-
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, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the international collaborative group on HNPCC. Gastroenterology 116(6), 1453-1456 (1999).
-
(1999)
Gastroenterology
, vol.116
, Issue.6
, pp. 1453-1456
-
-
Vasen, H.F.1
Watson, P.2
Mecklin, J.P.3
Lynch, H.T.4
-
23
-
-
20244386256
-
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: Familial colorectal cancer type X
-
Lindor NM, Rabe K, Petersen GM et al.. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: Familial colorectal cancer type X. JAMA 293(16), 1979-1985 (2005).
-
(2005)
JAMA
, vol.293
, Issue.16
, pp. 1979-1985
-
-
Lindor, N.M.1
Rabe, K.2
Petersen, G.M.3
-
24
-
-
27144484911
-
Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway
-
Llor X, Pons E, Xicola RM et al.. Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway. Clin. Cancer Res. 11(20), 7304-7310 (2005).
-
(2005)
Clin. Cancer Res.
, vol.11
, Issue.20
, pp. 7304-7310
-
-
Llor, X.1
Pons, E.2
Xicola, R.M.3
-
25
-
-
33745658837
-
Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer
-
Barnetson RA, Tenesa A, Farrington SM et al.. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N. Engl. J. Med. 354, 2751-2763 (2006).
-
(2006)
N. Engl. J. Med.
, vol.354
, pp. 2751-2763
-
-
Barnetson, R.A.1
Tenesa, A.2
Farrington, S.M.3
-
26
-
-
17944362664
-
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)
-
Hampel H, Frankel WL, Martin E et al.. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N. Engl. J. Med. 352(18), 1851-1860 (2005).
-
(2005)
N. Engl. J. Med.
, vol.352
, Issue.18
, pp. 1851-1860
-
-
Hampel, H.1
Frankel, W.L.2
Martin, E.3
-
27
-
-
13844251880
-
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer
-
Casey G, Lindor NM, Papadopoulos N et al.. Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. JAMA 293(7), 799-809 (2005).
-
(2005)
JAMA
, vol.293
, Issue.7
, pp. 799-809
-
-
Casey, G.1
Lindor, N.M.2
Papadopoulos, N.3
-
28
-
-
0031551963
-
A National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: Meeting highlights and Bethesda guidelines
-
Rodriguez-Bigas MA, Boland CR, Hamilton SR et al.. A National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J. Natl Cancer Inst. 89(23), 1758-1762 (1997).
-
(1997)
J. Natl Cancer Inst.
, vol.89
, Issue.23
, pp. 1758-1762
-
-
Rodriguez-Bigas, M.A.1
Boland, C.R.2
Hamilton, S.R.3
-
29
-
-
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. 96(4), 261-268 (2004). (Pubitemid 38256271)
-
(2004)
Journal of the National Cancer Institute
, vol.96
, Issue.4
, pp. 261-268
-
-
Umar, A.1
Boland, C.R.2
Terdiman, J.P.3
Syngal, S.4
De La Chapelle, A.5
Ruschoff, J.6
Fishel, R.7
Lindor, N.M.8
Burgart, L.J.9
Hamelin, R.10
Hamilton, S.R.11
Hiatt, R.A.12
Jass, J.13
Lindblom, A.14
Lynch, H.T.15
Peltomaki, P.16
Ramsey, S.D.17
Rodriguez-Bigas, M.A.18
Vasen, H.F.A.19
Hawk, E.T.20
Barrett, J.C.21
Freedman, A.N.22
Srivastava, S.23
more..
-
30
-
-
39649088738
-
Hereditary nonpolyposis colorectal cancer: Diagnostic strategies and their implications
-
Bonis PA, Trikalinos TA, Chung M et al.. Hereditary nonpolyposis colorectal cancer: diagnostic strategies and their implications. Evid. Rep. Technol. Assess. (Full Rep.) (150), 1-180 (2007).
-
(2007)
Evid. Rep. Technol. Assess. (Full Rep.)
, vol.150
, pp. 1-180
-
-
Bonis, P.A.1
Trikalinos, T.A.2
Chung, M.3
-
31
-
-
0028128601
-
MLH1 PMS1 and MSH2 interactions during the initiation of DNA mismatch repair in yeast
-
Prolla TA, Pang Q, Alani E, Kolodner RD, Liskay RM. MLH1, PMS1, and MSH2 interactions during the initiation of DNA mismatch repair in yeast. Science 265, 1091-1093 (1994).
-
(1994)
Science
, vol.265
, pp. 1091-1093
-
-
Prolla, T.A.1
Pang, Q.2
Alani, E.3
Kolodner, R.D.4
Liskay, R.M.5
-
32
-
-
0028595722
-
Binding of mismatched microsatellite DNA sequences by the human MSH2 protein
-
Fishel R, Ewel A, Lee S, Lescoe MK, Griffith J. Binding of mismatched microsatellite DNA sequences by the human MSH2 protein. Science 266, 1403-1405 (1994).
-
(1994)
Science
, vol.266
, pp. 1403-1405
-
-
Fishel, R.1
Ewel, A.2
Lee, S.3
Lescoe, M.K.4
Griffith, J.5
-
33
-
-
33746189409
-
Endonucleolytic Function of MutLα in Human Mismatch Repair
-
DOI 10.1016/j.cell.2006.05.039, PII S0092867406008129
-
Kadyrov FA, Dzantiev L, Constantin N, Modrich P. Endonucleolytic function of MutLa in human mismatch repair. Cell 126(2), 297-308 (2006). (Pubitemid 44092957)
-
(2006)
Cell
, vol.126
, Issue.2
, pp. 297-308
-
-
Kadyrov, F.A.1
Dzantiev, L.2
Constantin, N.3
Modrich, P.4
-
34
-
-
0029066689
-
Inactivation of the type II TGF-b receptor in colon cancer cells with microsatellite instability
-
Markowitz S, Wang J, Myeroff L et al.. Inactivation of the type II TGF-b receptor in colon cancer cells with microsatellite instability. Science 268(5215), 1336-1338 (1995).
-
(1995)
Science
, vol.268
, Issue.5215
, pp. 1336-1338
-
-
Markowitz, S.1
Wang, J.2
Myeroff, L.3
-
35
-
-
0031018674
-
Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype
-
DOI 10.1126/science.275.5302.967
-
Rampino N, Yamamoto H, Ionov Y et al.. Somatic frameshift mutations in the Bax gene in colon cancers of the microsatellite mutator phenotype. Science 275(5302), 967-969 (1997). (Pubitemid 27087710)
-
(1997)
Science
, vol.275
, Issue.5302
, pp. 967-969
-
-
Rampino, N.1
Yamamoto, H.2
Ionov, Y.3
Li, Y.4
Sawai, H.5
Reed, J.C.6
Perucho, M.7
-
36
-
-
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. 58(22), 5248-5257 (1998).
-
(1998)
Cancer Res
, vol.58
, Issue.22
, pp. 5248-5257
-
-
Boland, C.R.1
Thibodeau, S.N.2
Hamilton, S.R.3
-
37
-
-
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
-
Perucho M. Correspondence re: C.R. Boland 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. 58: 5248-5257, 1998
-
(1998)
Cancer Res
, vol.58
, pp. 5248-5257
-
-
Perucho, M.1
Re, C.2
Boland, C.R.3
-
38
-
-
0032952309
-
-
Cancer Res. 59(1), 249-256 (1999).
-
(1999)
Cancer Res
, vol.59
, Issue.1
, pp. 249-256
-
-
-
39
-
-
0041411494
-
Automated, multiplex assay for high-frequency microsatellite instability in colorectal cancer
-
Nash GM, Gimbel M, Shia J et al.. Automated, multiplex assay for high-frequency microsatellite instability in colorectal cancer. J. Clin. Oncol. 21(16), 3105-3112 (2003).
-
(2003)
J. Clin. Oncol.
, vol.21
, Issue.16
, pp. 3105-3112
-
-
Nash, G.M.1
Gimbel, M.2
Shia, J.3
-
40
-
-
0033023005
-
BAT-26 and BAT-40 instability in colorectal adenomas and carcinomas and germline polymorphisms
-
Samowitz WS, Slattery ML, Potter JD, Leppert MF. BAT-26 and BAT-40 instability in colorectal adenomas and carcinomas and germline polymorphisms. Am. J. Pathol. 154(6), 1637-1641 (1999).
-
(1999)
Am. J. Pathol.
, vol.154
, Issue.6
, pp. 1637-1641
-
-
Samowitz, W.S.1
Slattery, M.L.2
Potter, J.D.3
Leppert, M.F.4
-
41
-
-
0032778898
-
Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing
-
Pyatt R, Chadwick RB, Johnson CK, et al. . Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing. Am. J. Pathol. 155(2), 349-353 (1999).
-
(1999)
Am. J. Pathol.
, vol.155
, Issue.2
, pp. 349-353
-
-
Pyatt, R.1
Chadwick, R.B.2
Johnson, C.K.3
-
42
-
-
0036893598
-
Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR
-
Suraweera N, Duval A, Reperant M et al.. Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology 123(6), 1804-1811 (2002).
-
(2002)
Gastroenterology
, vol.123
, Issue.6
, pp. 1804-1811
-
-
Suraweera, N.1
Duval, A.2
Reperant, M.3
-
43
-
-
33745977120
-
Comparison of the microsatellite instability analysis system and the Bethesda panel for the determination of microsatellite instability in colorectal cancers
-
Murphy KM, Zhang S, Geiger T et al.. Comparison of the microsatellite instability analysis system and the Bethesda panel for the determination of microsatellite instability in colorectal cancers. J. Mol. Diagn. 8(3), 305-311 (2006).
-
(2006)
J. Mol. Diagn.
, vol.8
, Issue.3
, pp. 305-311
-
-
Murphy, K.M.1
Zhang, S.2
Geiger, T.3
-
44
-
-
12844262940
-
Development of a fluorescent multiplex assay for detection of MSI-high tumors
-
Bacher JW, Flanagan LA, Smalley RL et al.. Development of a fluorescent multiplex assay for detection of MSI-high tumors. Dis. Markers 20(4-5), 237-250 (2004).
-
(2004)
Dis. Markers
, vol.20
, Issue.4-5
, pp. 237-250
-
-
Bacher, J.W.1
Flanagan, L.A.2
Smalley, R.L.3
-
45
-
-
33847712926
-
Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors
-
Xicola RM, Llor X, Pons E et al.. Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors. J. Natl Cancer Inst. 99(3), 244-252 (2007).
-
(2007)
J. Natl Cancer Inst.
, vol.99
, Issue.3
, pp. 244-252
-
-
Xicola, R.M.1
Llor, X.2
Pons, E.3
-
46
-
-
34447121322
-
Reduced likelihood of metastases in patients with microsatellite-unstable colorectal cancer
-
Malesci A, Laghi L, Bianchi P et al.. Reduced likelihood of metastases in patients with microsatellite-unstable colorectal cancer. Clin. Cancer Res. 13(13), 3831-3839 (2007).
-
(2007)
Clin. Cancer Res.
, vol.13
, Issue.13
, pp. 3831-3839
-
-
Malesci, A.1
Laghi, L.2
Bianchi, P.3
-
47
-
-
16844372717
-
Microsatellite instability testing in colorectal carcinoma: Choice of markers affects sensitivity of detection of mismatch repair-deficient tumors
-
Hatch SB, Lightfoot HM, Garwacki CP et al.. Microsatellite instability testing in colorectal carcinoma: choice of markers affects sensitivity of detection of mismatch repair-deficient tumors. Clin. Cancer Res. 11(6), 2180-2187 (2005).
-
(2005)
Clin. Cancer Res.
, vol.11
, Issue.6
, pp. 2180-2187
-
-
Hatch, S.B.1
Lightfoot, H.M.2
Garwacki, C.P.3
-
48
-
-
54549099260
-
Differences and evolution of the methods for the assessment of microsatellite instability
-
Laghi L, Bianchi P, Malesci A. Differences and evolution of the methods for the assessment of microsatellite instability. Oncogene 27(49), 6313-6321 (2008).
-
(2008)
Oncogene
, vol.27
, Issue.49
, pp. 6313-6321
-
-
Laghi, L.1
Bianchi, P.2
Malesci, A.3
-
49
-
-
0842278570
-
Epigenetic changes in colorectal cancer
-
Kondo Y, Issa JP. Epigenetic changes in colorectal cancer. Cancer Metastasis Rev. 23(1-2), 29-39 (2004).
-
(2004)
Cancer Metastasis Rev
, vol.23
, Issue.1-2
, pp. 29-39
-
-
Kondo, Y.1
Issa, J.P.2
-
50
-
-
1642535480
-
BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer
-
Deng G, Bell I, Crawley S et al.. BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer. Clin. Cancer Res. 10(1), 191-195 (2004).
-
(2004)
Clin. Cancer Res.
, vol.10
, Issue.1
, pp. 191-195
-
-
Deng, G.1
Bell, I.2
Crawley, S.3
-
51
-
-
20544437157
-
BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes
-
Domingo E, Niessen RC, Oliveira C et al.. BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes. Oncogene 24(24), 3995-3998 (2005).
-
(2005)
Oncogene
, vol.24
, Issue.24
, pp. 3995-3998
-
-
Domingo, E.1
Niessen, R.C.2
Oliveira, C.3
-
52
-
-
3242670404
-
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance
-
Hendriks YM, Wagner A, Morreau H et al.. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 127(1), 17-25 (2004).
-
(2004)
Gastroenterology
, vol.127
, Issue.1
, pp. 17-25
-
-
Hendriks, Y.M.1
Wagner, A.2
Morreau, H.3
-
53
-
-
47649123223
-
Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: Part I. The utility of immunohistochemistry
-
Shia J. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: part I. The utility of immunohistochemistry. J. Mol. Diagn. 10(4), 293-300 (2008).
-
(2008)
J. Mol. Diagn.
, vol.10
, Issue.4
, pp. 293-300
-
-
Shia, J.1
-
54
-
-
0041664997
-
Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein
-
Raevaara TE, Vaccaro C, Abdel-Rahman WM et al.. Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein. Gastroenterology 125, 501-509 (2003).
-
(2003)
Gastroenterology
, vol.125
, pp. 501-509
-
-
Raevaara, T.E.1
Vaccaro, C.2
Abdel-Rahman, W.M.3
-
55
-
-
0035044718
-
Microsatellite instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer
-
Salahshor S, Koelble K, Rubio C et al.. Microsatellite instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer. Lab. Invest. 81, 535-541 (2001).
-
(2001)
Lab. Invest.
, vol.81
, pp. 535-541
-
-
Salahshor, S.1
Koelble, K.2
Rubio, C.3
-
56
-
-
0037096801
-
Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families
-
Wahlberg SS, Schmeits J, Thomas G et al.. Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families. Cancer Res. 62, 3485-3492 (2002).
-
(2002)
Cancer Res
, vol.62
, pp. 3485-3492
-
-
Wahlberg, S.S.1
Schmeits, J.2
Thomas, G.3
-
57
-
-
10744232899
-
Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer
-
De Jong AE, Van Puijenbroek M, Hendriks Y et al.. Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin. Cancer Res. 10(3), 972-980 (2004).
-
(2004)
Clin. Cancer Res.
, vol.10
, Issue.3
, pp. 972-980
-
-
De Jong, A.E.1
Van Puijenbroek, M.2
Hendriks, Y.3
-
58
-
-
0030465237
-
HMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6
-
Acharya S, Wilson T, Gradia S et al.. hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. Proc. Natl Acad. Sci. USA 93(24), 13629-13634 (1996).
-
(1996)
Proc. Natl Acad. Sci. USA
, vol.93
, Issue.24
, pp. 13629-13634
-
-
Acharya, S.1
Wilson, T.2
Gradia, S.3
-
59
-
-
0029868110
-
Redundancy of Saccharomyces cerevisiae MSH3 and MSH6 in MSH2- dependent mismatch repair
-
Marsischky GT, Filosi N, Kane MF, Kolodner R. Redundancy of Saccharomyces cerevisiae MSH3 and MSH6 in MSH2- dependent mismatch repair. Genes Dev. 10, 407-420 (1999).
-
(1999)
Genes Dev
, vol.10
, pp. 407-420
-
-
Marsischky, G.T.1
Filosi, N.2
Kane, M.F.3
Kolodner, R.4
-
60
-
-
0036082617
-
Oxidative stress inactivates the human DNA mismatch repair system
-
Chang CL, Marra G, Chauhan DP et al.. Oxidative stress inactivates the human DNA mismatch repair system. Am. J. Physiol. Cell Physiol. 283(1), C148-154 (2002).
-
(2002)
Am. J. Physiol. Cell Physiol.
, vol.283
, Issue.1
-
-
Chang, C.L.1
Marra, G.2
Chauhan, D.P.3
-
62
-
-
34548765471
-
Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer
-
Watson N, Grieu F, Morris M et al.. Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer. J. Mol. Diagn. 9, 472-478 (2007).
-
(2007)
J. Mol. Diagn.
, vol.9
, pp. 472-478
-
-
Watson, N.1
Grieu, F.2
Morris, M.3
-
63
-
-
57449097359
-
Feasibility of screening for Lynch syndrome among patients with colorectal cancer
-
Hampel H, Frankel WL, Martin E et al.. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J. Clin. Oncol. 26, 5783-5788 (2008).
-
(2008)
J. Clin. Oncol.
, vol.26
, pp. 5783-5788
-
-
Hampel, H.1
Frankel, W.L.2
Martin, E.3
-
64
-
-
0037083484
-
Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors
-
Lindor NM, Burgart LJ, Leontovich O et al.. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J. Clin. Oncol. 20(4), 1043-1048 (2002).
-
(2002)
J. Clin. Oncol.
, vol.20
, Issue.4
, pp. 1043-1048
-
-
Lindor, N.M.1
Burgart, L.J.2
Leontovich, O.3
-
65
-
-
20244386395
-
Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer
-
Pinol V, Castells A, Andreu M et al.. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 293(16), 1986-1994 (2005).
-
(2005)
JAMA
, vol.293
, Issue.16
, pp. 1986-1994
-
-
Pinol, V.1
Castells, A.2
Andreu, M.3
-
66
-
-
33847794097
-
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics
-
Lagerstedt Robinson K, Liu T, Vandrovcova J et al.. Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J. Natl Cancer Inst. 99(4), 291-299 (2007).
-
(2007)
J. Natl Cancer Inst.
, vol.99
, Issue.4
, pp. 291-299
-
-
Lagerstedt Robinson, K.1
Liu, T.2
Vandrovcova, J.3
-
67
-
-
24044540727
-
Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer
-
Halvarsson B, Lindblom A, Johansson L, Lagerstedt K, Nilbert M. Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer. Mod. Pathol. 18, 1095-1101 (2005).
-
(2005)
Mod. Pathol.
, vol.18
, pp. 1095-1101
-
-
Halvarsson, B.1
Lindblom, A.2
Johansson, L.3
Lagerstedt, K.4
Nilbert, M.5
-
68
-
-
67149125977
-
Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas
-
Pino MS, Mino-Kenudson M, Wildemore BM et al.. Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas. J. Mol. Diagn. 11(3), 238-247 (2009).
-
(2009)
J. Mol. Diagn.
, vol.11
, Issue.3
, pp. 238-247
-
-
Pino, M.S.1
Mino-Kenudson, M.2
Wildemore, B.M.3
-
69
-
-
0033167275
-
Microsatellite instability and expression of MLH1 and MSH2 in normal and malignant endometrial and ovarian epithelium in hereditary nonpolyposis colorectal cancer family members
-
Ichikawa Y, Lemon S, Wang S et al.. Microsatellite instability and expression of MLH1 and MSH2 in normal and malignant endometrial and ovarian epithelium in hereditary nonpolyposis colorectal cancer family members. Cancer Genet. Cytogenet. 112(1), 2-8 (1999).
-
(1999)
Cancer Genet. Cytogenet.
, vol.112
, Issue.1
, pp. 2-8
-
-
Ichikawa, Y.1
Lemon, S.2
Wang, S.3
-
70
-
-
0027366916
-
Genetic instability of microsatellites in endometrial carcinoma
-
Risinger JI, Berchuck A, Kohler MF, Watson P, Lynch HT, Boyd J. Genetic instability of microsatellites in endometrial carcinoma. Cancer Res. 53(21), 5100-5103 (1993).
-
(1993)
Cancer Res
, vol.53
, Issue.21
, pp. 5100-5103
-
-
Risinger, J.I.1
Berchuck, A.2
Kohler, M.F.3
Watson, P.4
Lynch, H.T.5
Boyd, J.6
-
71
-
-
0033645557
-
Prediction of a mismatch repair gene defect by microsatellite instability and immunohistochemical analysis in endometrial tumours from HNPCC patients
-
De Leeuw WJ, Dierssen J, Vasen HF et al.. Prediction of a mismatch repair gene defect by microsatellite instability and immunohistochemical analysis in endometrial tumours from HNPCC patients. J. Pathol. 192, 328-335 (2000).
-
(2000)
J. Pathol.
, vol.192
, pp. 328-335
-
-
De Leeuw, W.J.1
Dierssen, J.2
Vasen, H.F.3
-
72
-
-
0029846318
-
Absence of mutations in DNA mismatch repair genes in sporadic endometrial tumors with microsatellite instability
-
Lim PC, Tester D, Cliby W et al.. Absence of mutations in DNA mismatch repair genes in sporadic endometrial tumors with microsatellite instability. Clin.Cancer Res. 2, 1907-1911 (1996). (Pubitemid 26384160)
-
(1996)
Clinical Cancer Research
, vol.2
, Issue.11
, pp. 1907-1911
-
-
Lim, P.C.1
Tester, D.2
Cliby, W.3
Ziesmer, S.C.4
Roche, P.C.5
Hartmann, L.6
Thibodeau, S.N.7
Podratz, K.C.8
Jenkins, R.B.9
-
73
-
-
0030944849
-
Microsatellite instability in cervical and endometrial carcinomas
-
Helland A, Børresen-Dale AL, Peltomäki P et al.. Microsatellite instability in cervical and endometrial carcinomas. Int. J. Cancer 70, 499-501 (1997).
-
(1997)
Int. J. Cancer
, vol.70
, pp. 499-501
-
-
Helland, A.1
Børresen-Dale, A.L.2
Peltomäki, P.3
-
74
-
-
0029122057
-
Microsatellite instability in endometrial carcinomas: Frequent replication errors in tumors of early onset and/or of poorly differentiated type
-
Kobayashi K, Sagae S, Kudo R, Saito H, Koi S, Nakamura Y. Microsatellite instability in endometrial carcinomas: frequent replication errors in tumors of early onset and/or of poorly differentiated type. Genes Chromosomes Cancer 14, 128-132 (1995).
-
(1995)
Genes Chromosomes Cancer
, vol.14
, pp. 128-132
-
-
Kobayashi, K.1
Sagae, S.2
Kudo, R.3
Saito, H.4
Koi, S.5
Nakamura, Y.6
-
75
-
-
0031734281
-
Association of replication error positive phenotype with lymphocyte infiltration in endometrial cancers
-
Kihana T, Fujioka T, Hamada K et al.. Association of replication error positive phenotype with lymphocyte infiltration in endometrial cancers. Jpn. J. Cancer Res. 89, 895-902 (1998).
-
(1998)
Jpn. J. Cancer Res.
, vol.89
, pp. 895-902
-
-
Kihana, T.1
Fujioka, T.2
Hamada, K.3
-
76
-
-
0031690464
-
Microsatellite instability in endometrial carcinomas: Clinicopathologic correlations in a series of 42 cases
-
Catasus L, Machin P, Matias-Guiu X, Prat J. Microsatellite instability in endometrial carcinomas: clinicopathologic correlations in a series of 42 cases. Hum. Pathol. 29, 1160-1164 (1998).
-
(1998)
Hum. Pathol.
, vol.29
, pp. 1160-1164
-
-
Catasus, L.1
MacHin, P.2
Matias-Guiu, X.3
Prat, J.4
-
77
-
-
0032191420
-
Microsatellite instability and somatic mutations in endometrial carcinomas
-
Sakamoto T, Murase T, Urushibata H et al.. Microsatellite instability and somatic mutations in endometrial carcinomas. Gynecol. Oncol. 71, 53-58 (1998).
-
(1998)
Gynecol. Oncol.
, vol.71
, pp. 53-58
-
-
Sakamoto, T.1
Murase, T.2
Urushibata, H.3
-
78
-
-
0031660110
-
Genomic loci susceptible to replication errors in cancer cells
-
Krajinovic M, Richer C, Gorska-Flipot I et al.. Genomic loci susceptible to replication errors in cancer cells. Br. J. Cancer 78, 981-985 (1998).
-
(1998)
Br. J. Cancer
, vol.78
, pp. 981-985
-
-
Krajinovic, M.1
Richer, C.2
Gorska-Flipot, I.3
-
79
-
-
84988273336
-
Microsatellite instability and hMLH1/ hMSH2 expression in young endometrial carcinoma patients: Associations with family history and histopathology
-
Parc YR, Halling KC, Burgart LJ et al.. Microsatellite instability and hMLH1/ hMSH2 expression in young endometrial carcinoma patients: associations with family history and histopathology. Int. J. Cancer 86, 60-66 (2000).
-
(2000)
Int. J. Cancer
, vol.86
, pp. 60-66
-
-
Parc, Y.R.1
Halling, K.C.2
Burgart, L.J.3
-
80
-
-
0033556428
-
Causes and consequences of microsatellite instability in endometrial carcinoma
-
Gurin CC, Federici MG, Kang L, Boyd J. Causes and consequences of microsatellite instability in endometrial carcinoma. Cancer Res. 59, 462-466 (1999).
-
(1999)
Cancer Res
, vol.59
, pp. 462-466
-
-
Gurin, C.C.1
Federici, M.G.2
Kang, L.3
Boyd, J.4
-
81
-
-
0032964557
-
Microsatellite instability in endometrial cancer: Relation to histological subtypes
-
Tibiletti M, Furlan D, Taborelli M et al.. Microsatellite instability in endometrial cancer: relation to histological subtypes. Gynecol. Oncol. 73, 247-252 (1999).
-
(1999)
Gynecol. Oncol.
, vol.73
, pp. 247-252
-
-
Tibiletti, M.1
Furlan, D.2
Taborelli, M.3
-
82
-
-
0642307229
-
Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis
-
Berends MJ, Wu Y, Sijmons RH et al.. Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis. J. Clin. Oncol. 21, 4364-4370 (2003).
-
(2003)
J. Clin. Oncol.
, vol.21
, pp. 4364-4370
-
-
Berends, M.J.1
Wu, Y.2
Sijmons, R.H.3
-
83
-
-
0141962933
-
Mismatch repair gene expression defects contribute to microsatellite instability in ovarian carcinoma
-
Geisler JP, Goodheart MJ, Sood AK et al.. Mismatch repair gene expression defects contribute to microsatellite instability in ovarian carcinoma. Cancer 98, 2199-2206 (2003).
-
(2003)
Cancer
, vol.98
, pp. 2199-2206
-
-
Geisler, J.P.1
Goodheart, M.J.2
Sood, A.K.3
-
84
-
-
0035360815
-
Application of the National Cancer Institute international criteria for determination of microsatellite instability in ovarian cancer
-
Sood AK, Holmes R, Hendrix MJ, Buller RE. Application of the National Cancer Institute international criteria for determination of microsatellite instability in ovarian cancer. Cancer Res. 61, 4371-4374 (2001).
-
(2001)
Cancer Res
, vol.61
, pp. 4371-4374
-
-
Sood, A.K.1
Holmes, R.2
Hendrix, M.J.3
Buller, R.E.4
-
85
-
-
0029112453
-
Microsatellite instability in ovarian neoplasms
-
King BL, Carcangiu ML, Carter D. Microsatellite instability in ovarian neoplasms. Br. J. Cancer 72, 376-382 (1995).
-
(1995)
Br. J. Cancer
, vol.72
, pp. 376-382
-
-
King, B.L.1
Carcangiu, M.L.2
Carter, D.3
-
86
-
-
0029597808
-
Microsatellite instability and alterations in the hMSH2 gene in human ovarian cancer
-
Fujita M, Enomoto T, Yoshino K et al.. Microsatellite instability and alterations in the hMSH2 gene in human ovarian cancer. Int. J. Cancer 64, 361-366 (1995).
-
(1995)
Int. J. Cancer
, vol.64
, pp. 361-366
-
-
Fujita, M.1
Enomoto, T.2
Yoshino, K.3
-
87
-
-
0035064505
-
P53 mutations and microsatellite instability in ovarian cancer: Yin and yang
-
Buller RE, Shahin MS, Holmes RW, Hatterman M, Kirby PA, Sood AK. p53 mutations and microsatellite instability in ovarian cancer: yin and yang. Am. J. Obstet. Gynecol. 184, 891-902 (2001).
-
(2001)
Am. J. Obstet. Gynecol.
, vol.184
, pp. 891-902
-
-
Buller, R.E.1
Shahin, M.S.2
Holmes, R.W.3
Hatterman, M.4
Kirby, P.A.5
Sood, A.K.6
-
88
-
-
33646408125
-
The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer
-
Malander S, Rambech E, Kristoffersson U et al.. The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer. Gynecol. Oncol. 101, 238-243 (2006).
-
(2006)
Gynecol. Oncol.
, vol.101
, pp. 238-243
-
-
Malander, S.1
Rambech, E.2
Kristoffersson, U.3
-
89
-
-
34447314503
-
Ovarian cancer at young age: The contribution of mismatch-repair defects in a population-based series of epithelial ovarian cancer before age 40
-
Domanska K, Malander S, Masback A, Nilbert M. Ovarian cancer at young age: the contribution of mismatch-repair defects in a population-based series of epithelial ovarian cancer before age 40. Int. J. Gynecol. Cancer 17, 789-793 (2007).
-
(2007)
Int. J. Gynecol. Cancer
, vol.17
, pp. 789-793
-
-
Domanska, K.1
Malander, S.2
Masback, A.3
Nilbert, M.4
-
90
-
-
33750361148
-
Immunohistochemical staining of hMLH1 and hMSH2 reflects microsatellite instability status in ovarian carcinoma
-
Rosen DG, Cai KQ, Luthra R, Liu J. Immunohistochemical staining of hMLH1 and hMSH2 reflects microsatellite instability status in ovarian carcinoma. Mod. Pathol. 19, 1414-1420 (2006).
-
(2006)
Mod. Pathol.
, vol.19
, pp. 1414-1420
-
-
Rosen, D.G.1
Cai, K.Q.2
Luthra, R.3
Liu, J.4
-
91
-
-
18644386133
-
Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach
-
Gille JJ, Hogervorst FB, Pals G et al.. Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. Br. J. Cancer 87, 892-897 (2002).
-
(2002)
Br. J. Cancer
, vol.87
, pp. 892-897
-
-
Gille, J.J.1
Hogervorst, F.B.2
Pals, G.3
-
92
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30(12), e57 (2002).
-
(2002)
Nucleic Acids Res
, vol.30
, Issue.12
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
93
-
-
64249108224
-
Large genomic rearrangements and germline epimutations in Lynch syndrome
-
Gylling A, Ridanpää M, Vierimaa O et al.. Large genomic rearrangements and germline epimutations in Lynch syndrome. Int. J. Cancer 124(10), 2333-2340 (2009).
-
(2009)
Int. J. Cancer
, vol.124
, Issue.10
, pp. 2333-2340
-
-
Gylling, A.1
Ridanpää, M.2
Vierimaa, O.3
-
94
-
-
0031795020
-
MSH2 genomic deletions are a frequent cause of HNPCC
-
Wijnen J, Van Der Klift H, Vasen H et al.. MSH2 genomic deletions are a frequent cause of HNPCC. Nat. Genet. 20, 326-328 (1998).
-
(1998)
Nat. Genet.
, vol.20
, pp. 326-328
-
-
Wijnen, J.1
Van Der Klift, H.2
Vasen, H.3
-
95
-
-
0036468254
-
MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer
-
Charbonnier F, Olschwang S, Wang Q et al.. MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res. 62, 848-853 (2002).
-
(2002)
Cancer Res
, vol.62
, pp. 848-853
-
-
Charbonnier, F.1
Olschwang, S.2
Wang, Q.3
-
96
-
-
0346363771
-
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA
-
Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR. Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. Hum. Mutat. 22, 428-433 (2003).
-
(2003)
Hum. Mutat.
, vol.22
, pp. 428-433
-
-
Taylor, C.F.1
Charlton, R.S.2
Burn, J.3
Sheridan, E.4
Taylor, G.R.5
-
97
-
-
0037730214
-
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: High mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene
-
Wagner A, Barrows A, Wijnen JT et al.. Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. Am. J. Hum. Genet. 72, 1088-1100 (2003).
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1088-1100
-
-
Wagner, A.1
Barrows, A.2
Wijnen, J.T.3
-
98
-
-
0037455807
-
Hereditary nonpolyposis colorectal cancer: Frequent occurrence of large genomic deletions in MSH2 and MLH1 genes
-
Wang Y, Friedl W, Lamberti C et al.. Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes. Int. J. Cancer 103, 636-641 (2003).
-
(2003)
Int. J. Cancer
, vol.103
, pp. 636-641
-
-
Wang, Y.1
Friedl, W.2
Lamberti, C.3
-
99
-
-
24144471082
-
Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients
-
Baudhuin LM, Ferber MJ, Winters JL et al.. Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients. Gastroenterology 129, 846-854 (2005).
-
(2005)
Gastroenterology
, vol.129
, pp. 846-854
-
-
Baudhuin, L.M.1
Ferber, M.J.2
Winters, J.L.3
-
100
-
-
0033828829
-
Recurrent germline mutation in MSH2 arises frequently de novo
-
Desai DC, Lockman JC, Chadwick RB et al.. Recurrent germline mutation in MSH2 arises frequently de novo. J. Med. Genet. 37(9), 646-652 (2000).
-
(2000)
J. Med. Genet.
, vol.37
, Issue.9
, pp. 646-652
-
-
Desai, D.C.1
Lockman, J.C.2
Chadwick, R.B.3
-
101
-
-
0036732650
-
Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large newfoundland kindred with a common MSH2 mutation
-
Green J, O'Driscoll M, Barnes A et al.. Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large newfoundland kindred with a common MSH2 mutation. Dis. Colon Rectum 45(9), 1223-1232 (2002).
-
(2002)
Dis. Colon Rectum
, vol.45
, Issue.9
, pp. 1223-1232
-
-
Green, J.1
O'Driscoll, M.2
Barnes, A.3
-
102
-
-
0028845693
-
Founding mutations and Alu-mediated recombination in hereditary colon cancer
-
Nyström-Lahti M, Kristo P, Nicolaides NC et al.. Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat. Med. 1, 1203-1206 (2005).
-
(2005)
Nat. Med.
, vol.1
, pp. 1203-1206
-
-
Nyström-Lahti, M.1
Kristo, P.2
Nicolaides, N.C.3
-
103
-
-
0036917758
-
The founder mutation MSH2*1906G→C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population
-
Foulkes WD, Thiffault I, Gruber SB et al.. The founder mutation MSH2*1906G→C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. Am. J. Hum. Genet. 71(6), 1395-1412 (2002).
-
(2002)
Am. J. Hum. Genet.
, vol.71
, Issue.6
, pp. 1395-1412
-
-
Foulkes, W.D.1
Thiffault, I.2
Gruber, S.B.3
-
104
-
-
42049093195
-
Origins and prevalence of the American founder mutation of MSH2
-
Clendenning M, Baze ME, Sun S et al.. Origins and prevalence of the American founder mutation of MSH2. Cancer Res. 68(7), 2145-2153 (2008).
-
(2008)
Cancer Res
, vol.68
, Issue.7
, pp. 2145-2153
-
-
Clendenning, M.1
Baze, M.E.2
Sun, S.3
-
105
-
-
0345222475
-
Human MLH1 deficiency predisposes to hematological maligancy and neurofibromatosis type 1
-
Ricciardone MD, Ozcelik T, Cevher B et al.. Human MLH1 deficiency predisposes to hematological maligancy and neurofibromatosis type 1. Cancer Res. 59(2), 290-293 (1999).
-
(1999)
Cancer Res
, vol.59
, Issue.2
, pp. 290-293
-
-
Ricciardone, M.D.1
Ozcelik, T.2
Cevher, B.3
-
106
-
-
0033556009
-
Neurofibromatosis and early onset of cancers in hMLH1-deficient children
-
Wang Q, Lasset C, Desseigne F et al.. Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res. 59(2), 294-297 (1999).
-
(1999)
Cancer Res
, vol.59
, Issue.2
, pp. 294-297
-
-
Wang, Q.1
Lasset, C.2
Desseigne, F.3
-
107
-
-
10744228073
-
Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation
-
Gallinger S, Aronson M, Shayan K et al.. Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation. Gastroenterology 126(2), 576-585 (2004).
-
(2004)
Gastroenterology
, vol.126
, Issue.2
, pp. 576-585
-
-
Gallinger, S.1
Aronson, M.2
Shayan, K.3
-
108
-
-
37249079114
-
Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1
-
Krüger S, Kinzel M, Walldorf C et al.. Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. Eur. J. Hum. Genet. 16(1), 62-72 (2008).
-
(2008)
Eur. J. Hum. Genet.
, vol.16
, Issue.1
, pp. 62-72
-
-
Krüger, S.1
Kinzel, M.2
Walldorf, C.3
-
109
-
-
34249738616
-
Constitutive deficiency in DNA mismatch repair: Is it time for Lynch III?
-
Felton KE, Gilchrist DM, Andrew SE. Constitutive deficiency in DNA mismatch repair: is it time for Lynch III? Clin. Genet. 71(6), 499-500 (2007).
-
(2007)
Clin Genet
, vol.71
, Issue.6
, pp. 499-500
-
-
Felton, K.E.1
Gilchrist, D.M.2
Andrew, S.E.3
-
110
-
-
29144462041
-
Syndrome of early onset colon cancers, hematologic malignancies and features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations
-
Bandipalliam P. Syndrome of early onset colon cancers, hematologic malignancies and features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations. Fam. Cancer 4(4), 323-333 (2005).
-
(2005)
Fam. Cancer
, vol.4
, Issue.4
, pp. 323-333
-
-
Bandipalliam, P.1
-
111
-
-
50649111364
-
Constitutional mismatch repair-deficiency syndrome: Have we so far seen only the tip of an iceberg?
-
Wimmer K, Etzler J. Constitutional mismatch repair-deficiency syndrome: Have we so far seen only the tip of an iceberg? Hum. Genet. 124(2), 105-122 (2008).
-
(2008)
Hum Genet
, vol.124
, Issue.2
, pp. 105-122
-
-
Wimmer, K.1
Etzler, J.2
-
112
-
-
0037099602
-
A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor
-
Gazzoli I, Loda M, Garber J, Syngal S, Kolodner RD. A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor. Cancer Res. 62, 3925-3928 (2002).
-
(2002)
Cancer Res
, vol.62
, pp. 3925-3928
-
-
Gazzoli, I.1
Loda, M.2
Garber, J.3
Syngal, S.4
Kolodner, R.D.5
-
113
-
-
10744230172
-
Extensive but hemiallelic methylation of the hMLH1 promoter region in early-onset sporadic colon cancers with microsatellite instability
-
Miyakura Y, Sugano K, Akasu T et al.. Extensive but hemiallelic methylation of the hMLH1 promoter region in early-onset sporadic colon cancers with microsatellite instability. Clin. Gastroenterol. Hepatol. 2(2), 147-156 (2004).
-
(2004)
Clin. Gastroenterol. Hepatol.
, vol.2
, Issue.2
, pp. 147-156
-
-
Miyakura, Y.1
Sugano, K.2
Akasu, T.3
-
114
-
-
2442424419
-
Germline epimutation of MLH1 in individuals with multiple cancers
-
Suter CM, Martin DI, Ward RL. Germline epimutation of MLH1 in individuals with multiple cancers. Nat. Genet. 36, 497-501 (2004).
-
(2004)
Nat. Genet.
, vol.36
, pp. 497-501
-
-
Suter, C.M.1
Martin, D.I.2
Ward, R.L.3
-
115
-
-
27744447434
-
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer
-
Hitchins M, Williams R, Cheong K et al.. MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Gastroenterology 129(5), 1392-1399 (2005).
-
(2005)
Gastroenterology
, vol.129
, Issue.5
, pp. 1392-1399
-
-
Hitchins, M.1
Williams, R.2
Cheong, K.3
-
116
-
-
33846973361
-
Inheritance of a cancer-associated MLH1 germ-line epimutation
-
Hitchins MP, Wong JJ, Suthers G et al.. Inheritance of a cancer-associated MLH1 germ-line epimutation. N. Engl. J. Med. 356(7), 697-705 (2007).
-
(2007)
N. Engl. J. Med.
, vol.356
, Issue.7
, pp. 697-705
-
-
Hitchins, M.P.1
Wong, J.J.2
Suthers, G.3
-
117
-
-
33749122904
-
Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer
-
Chan TL, Yuen ST, Kong CK et al.. Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer. Nat. Genet. 38(10), 1178-1183 (2006).
-
(2006)
Nat. Genet.
, vol.38
, Issue.10
, pp. 1178-1183
-
-
Chan, T.L.1
Yuen, S.T.2
Kong, C.K.3
-
118
-
-
58149144567
-
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3́ exons of TACSTD1
-
Ligtenberg MJ, Kuiper RP, Chan TL et al.. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3́ exons of TACSTD1. Nat. Genet. 41(1), 112-117 (2009).
-
(2009)
Nat. Genet.
, vol.41
, Issue.1
, pp. 112-117
-
-
Ligtenberg, M.J.1
Kuiper, R.P.2
Chan, T.L.3
-
119
-
-
66349113849
-
Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors
-
Campbell PT, Curtin K, Ulrich CM et al.. Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors. Gut 58(5), 661-667 (2009).
-
(2009)
Gut
, vol.58
, Issue.5
, pp. 661-667
-
-
Campbell, P.T.1
Curtin, K.2
Ulrich, C.M.3
-
120
-
-
3042700124
-
The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer
-
Lipkin SM, Rozek LS, Rennert G et al.. The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. Nat. Genet. 36(7), 694-699 (2004).
-
(2004)
Nat. Genet.
, vol.36
, Issue.7
, pp. 694-699
-
-
Lipkin, S.M.1
Rozek, L.S.2
Rennert, G.3
-
121
-
-
34047272113
-
MLH1 -93G>A promoter polymorphism and the risk of microsatellite- unstable colorectal cancer
-
DOI 10.1093/jnci/djk095
-
Raptis S, Mrkonjic M, Green RC et al.. MLH1-93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer. J. Natl Cancer Inst. 99(6), 463-474 (2007). (Pubitemid 47078735)
-
(2007)
Journal of the National Cancer Institute
, vol.99
, Issue.6
, pp. 463-474
-
-
Raptis, S.1
Mrkonjic, M.2
Green, R.C.3
Pethe, V.V.4
Monga, N.5
Chan, Y.M.6
Daftary, D.7
Dicks, E.8
Younghusband, B.H.9
Parfrey, P.S.10
Gallinger, S.S.11
McLaughlin, J.R.12
Knight, J.A.13
Bapat, B.14
-
122
-
-
45549101363
-
Keeping pace with the times - The genetic information nondiscrimination act of 2008
-
Hudson KL, Holohan MK, Collins FS. Keeping pace with the times - the genetic information nondiscrimination act of 2008. N. Engl. J. Med. 358(25), 2661-2663 (2008).
-
(2008)
N. Engl. J. Med.
, vol.358
, Issue.25
, pp. 2661-2663
-
-
Hudson, K.L.1
Holohan, M.K.2
Collins, F.S.3
-
123
-
-
0032555020
-
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease
-
Aaltonen LA, Salovaara R, Kristo P et al.. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N. Engl. J. Med. 338(21), 1481-1487 (1998).
-
(1998)
N. Engl. J. Med.
, vol.338
, Issue.21
, pp. 1481-1487
-
-
Aaltonen, L.A.1
Salovaara, R.2
Kristo, P.3
-
124
-
-
33749067855
-
Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: A systematic review
-
Lindor NM, Petersen GM, Hadley DW et al.. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA 296(12), 1507-1517 (2006).
-
(2006)
JAMA
, vol.296
, Issue.12
, pp. 1507-1517
-
-
Lindor, N.M.1
Petersen, G.M.2
Hadley, D.W.3
|