-
2
-
-
58749101712
-
Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test
-
Schofield L., Watson N., Grieu F., et al. Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test. Int J Cancer 124 (2009) 1097-1102
-
(2009)
Int J Cancer
, vol.124
, pp. 1097-1102
-
-
Schofield, L.1
Watson, N.2
Grieu, F.3
-
3
-
-
0034500024
-
DNA mismatch repair and genetic instability
-
Harfe B.D., and Jinks-Robertson S. DNA mismatch repair and genetic instability. Annu Rev Genet 34 (2000) 359-399
-
(2000)
Annu Rev Genet
, vol.34
, pp. 359-399
-
-
Harfe, B.D.1
Jinks-Robertson, S.2
-
4
-
-
0031278322
-
Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer
-
Miyaki M., Konishi M., Tanaka K., et al. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 17 (1997) 271-272
-
(1997)
Nat Genet
, vol.17
, pp. 271-272
-
-
Miyaki, M.1
Konishi, M.2
Tanaka, K.3
-
5
-
-
0027933070
-
Mutations of two PMS homologues in hereditary nonpolyposis colon cancer
-
Nicolaides N.C., Papadopoulos N., Liu B., et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371 (1994) 75-80
-
(1994)
Nature
, vol.371
, pp. 75-80
-
-
Nicolaides, N.C.1
Papadopoulos, N.2
Liu, B.3
-
6
-
-
34447264031
-
A new variant database for mismatch repair genes associated with Lynch syndrome
-
Woods M.O., Williams P., Careen A., et al. A new variant database for mismatch repair genes associated with Lynch syndrome. Hum Mutat 28 (2007) 669-673
-
(2007)
Hum Mutat
, vol.28
, pp. 669-673
-
-
Woods, M.O.1
Williams, P.2
Careen, A.3
-
7
-
-
0028849441
-
Genomic organization of the human PMS2 gene family
-
Nicolaides N.C., Carter K.C., Shell B.K., et al. Genomic organization of the human PMS2 gene family. Genomics 30 (1995) 195-206
-
(1995)
Genomics
, vol.30
, pp. 195-206
-
-
Nicolaides, N.C.1
Carter, K.C.2
Shell, B.K.3
-
8
-
-
0029100814
-
Analysis of the 5' region of PMS2 reveals heterogeneous transcripts and a novel overlapping gene
-
Nicolaides N.C., Kinzler K.W., and Vogelstein B. Analysis of the 5' region of PMS2 reveals heterogeneous transcripts and a novel overlapping gene. Genomics 29 (1995) 329-334
-
(1995)
Genomics
, vol.29
, pp. 329-334
-
-
Nicolaides, N.C.1
Kinzler, K.W.2
Vogelstein, B.3
-
9
-
-
3142748325
-
Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation
-
Nakagawa H., Lockman J.C., Frankel W.L., et al. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Res 64 (2004) 4721-4727
-
(2004)
Cancer Res
, vol.64
, pp. 4721-4727
-
-
Nakagawa, H.1
Lockman, J.C.2
Frankel, W.L.3
-
10
-
-
2342506542
-
Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome
-
De Vos M., Hayward B.E., Picton S., et al. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am J Hum Genet 74 (2004) 954-964
-
(2004)
Am J Hum Genet
, vol.74
, pp. 954-964
-
-
De Vos, M.1
Hayward, B.E.2
Picton, S.3
-
11
-
-
33646372203
-
Long-range PCR facilitates the identification of PMS2-specific mutations
-
Clendenning M., Hampel H., LaJeunesse J., et al. Long-range PCR facilitates the identification of PMS2-specific mutations. Hum Mutat 27 (2006) 490-495
-
(2006)
Hum Mutat
, vol.27
, pp. 490-495
-
-
Clendenning, M.1
Hampel, H.2
LaJeunesse, J.3
-
12
-
-
0034538160
-
Population carrier frequency of hMSH2 and hMLH1 mutations
-
Dunlop M.G., Farrington S.M., Nicholl I., et al. Population carrier frequency of hMSH2 and hMLH1 mutations. Br J Cancer 83 (2000) 1643-1645
-
(2000)
Br J Cancer
, vol.83
, pp. 1643-1645
-
-
Dunlop, M.G.1
Farrington, S.M.2
Nicholl, I.3
-
13
-
-
10744233937
-
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
-
Umar A., Boland C.R., Terdiman J.P., et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96 (2004) 261-268
-
(2004)
J Natl Cancer Inst
, vol.96
, pp. 261-268
-
-
Umar, A.1
Boland, C.R.2
Terdiman, J.P.3
-
14
-
-
33748328364
-
Hereditary non-polyposis colorectal cancer: the rise and fall of a confusing term
-
Jass J.R. Hereditary non-polyposis colorectal cancer: the rise and fall of a confusing term. World J Gastroenterol 12 (2006) 4943-4950
-
(2006)
World J Gastroenterol
, vol.12
, pp. 4943-4950
-
-
Jass, J.R.1
-
15
-
-
57449097359
-
Feasibility of screening for Lynch syndrome among patients with colorectal cancer
-
Hampel H., Frankel W.L., Martin E., et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 26 (2008) 5783-5788
-
(2008)
J Clin Oncol
, vol.26
, pp. 5783-5788
-
-
Hampel, H.1
Frankel, W.L.2
Martin, E.3
-
16
-
-
23244443650
-
Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset
-
Hampel H., Stephens J.A., Pukkala E., et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology 129 (2005) 415-421
-
(2005)
Gastroenterology
, vol.129
, pp. 415-421
-
-
Hampel, H.1
Stephens, J.A.2
Pukkala, E.3
-
17
-
-
33747871345
-
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients
-
Hampel H., Frankel W., Panescu J., et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 66 (2006) 7810-7817
-
(2006)
Cancer Res
, vol.66
, pp. 7810-7817
-
-
Hampel, H.1
Frankel, W.2
Panescu, J.3
-
18
-
-
0037609660
-
Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers
-
Goodfellow P.J., Buttin B.M., Herzog T.J., et al. Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. Proc Natl Acad Sci U.S.A 100 (2003) 5908-5913
-
(2003)
Proc Natl Acad Sci U.S.A
, vol.100
, pp. 5908-5913
-
-
Goodfellow, P.J.1
Buttin, B.M.2
Herzog, T.J.3
-
19
-
-
33745658837
-
Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer
-
Barnetson R.A., Tenesa A., Farrington S.M., et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 354 (2006) 2751-2763
-
(2006)
N Engl J Med
, vol.354
, pp. 2751-2763
-
-
Barnetson, R.A.1
Tenesa, A.2
Farrington, S.M.3
-
20
-
-
26644441586
-
Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer
-
Southey M.C., Jenkins M.A., Mead L., et al. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. J Clin Oncol 23 (2005) 6524-6532
-
(2005)
J Clin Oncol
, vol.23
, pp. 6524-6532
-
-
Southey, M.C.1
Jenkins, M.A.2
Mead, L.3
-
21
-
-
0033063711
-
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC
-
Vasen H.F., Watson P., Mecklin J.P., et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology 116 (1999) 1453-1456
-
(1999)
Gastroenterology
, vol.116
, pp. 1453-1456
-
-
Vasen, H.F.1
Watson, P.2
Mecklin, J.P.3
-
22
-
-
58749110893
-
Molecular screening of all colorectal tumors diagnosed before age 50 years followed by genetic testing efficiently identifies Lynch syndrome cases
-
x-xi
-
Jenkins M.A., Dowty J.G., Hopper J.L., et al. Molecular screening of all colorectal tumors diagnosed before age 50 years followed by genetic testing efficiently identifies Lynch syndrome cases. Int J Cancer 124 (2009) x-xi
-
(2009)
Int J Cancer
, vol.124
-
-
Jenkins, M.A.1
Dowty, J.G.2
Hopper, J.L.3
-
23
-
-
17944362664
-
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)
-
Hampel H., Frankel W.L., Martin E., et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 352 (2005) 1851-1860
-
(2005)
N Engl J Med
, vol.352
, pp. 1851-1860
-
-
Hampel, H.1
Frankel, W.L.2
Martin, E.3
-
24
-
-
34249792086
-
Microsatellite instability markers for identifying early-onset colorectal cancers caused by germ-line mutations in DNA mismatch repair genes
-
Mead L.J., Jenkins M.A., Young J., et al. Microsatellite instability markers for identifying early-onset colorectal cancers caused by germ-line mutations in DNA mismatch repair genes. Clin Cancer Res 13 (2007) 2865-2869
-
(2007)
Clin Cancer Res
, vol.13
, pp. 2865-2869
-
-
Mead, L.J.1
Jenkins, M.A.2
Young, J.3
-
25
-
-
25144460523
-
Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregation
-
Gill S., Lindor N.M., Burgart L.J., et al. Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregation. Clin Cancer Res 11 (2005) 6466-6471
-
(2005)
Clin Cancer Res
, vol.11
, pp. 6466-6471
-
-
Gill, S.1
Lindor, N.M.2
Burgart, L.J.3
-
26
-
-
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 (2008) 419-428
-
(2008)
Gastroenterology
, vol.135
, pp. 419-428
-
-
Senter, L.1
Clendenning, M.2
Sotamaa, K.3
-
27
-
-
13744256264
-
Breast cancer risks for BRCA1/2 carriers
-
[author reply-91]
-
Easton D.F., Hopper J.L., Thomas D.C., et al. Breast cancer risks for BRCA1/2 carriers. Science 306 (2004) 2187-2191 [author reply-91]
-
(2004)
Science
, vol.306
, pp. 2187-2191
-
-
Easton, D.F.1
Hopper, J.L.2
Thomas, D.C.3
-
28
-
-
0036096514
-
Hereditary non-polyposis colorectal cancer: current risks of colorectal cancer largely overestimated
-
Carayol J., Khlat M., Maccario J., et al. Hereditary non-polyposis colorectal cancer: current risks of colorectal cancer largely overestimated. J Med Genet 39 (2002) 335-339
-
(2002)
J Med Genet
, vol.39
, pp. 335-339
-
-
Carayol, J.1
Khlat, M.2
Maccario, J.3
-
29
-
-
3242670404
-
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance
-
Hendriks Y.M., Wagner A., Morreau H., et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 127 (2004) 17-25
-
(2004)
Gastroenterology
, vol.127
, pp. 17-25
-
-
Hendriks, Y.M.1
Wagner, A.2
Morreau, H.3
-
30
-
-
32044450030
-
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome)
-
Hendriks Y.M., Jagmohan-Changur S., van der Klift H.M., et al. Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Gastroenterology 130 (2006) 312-322
-
(2006)
Gastroenterology
, vol.130
, pp. 312-322
-
-
Hendriks, Y.M.1
Jagmohan-Changur, S.2
van der Klift, H.M.3
-
31
-
-
14644396669
-
Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium
-
Plaschke J., Engel C., Kruger S., et al. Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. J Clin Oncol 22 (2004) 4486-4494
-
(2004)
J Clin Oncol
, vol.22
, pp. 4486-4494
-
-
Plaschke, J.1
Engel, C.2
Kruger, S.3
-
32
-
-
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 109 (2004) 370-376
-
(2004)
Int J Cancer
, vol.109
, pp. 370-376
-
-
Cederquist, K.1
Emanuelsson, M.2
Goransson, I.3
-
33
-
-
28644433009
-
Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome
-
Cederquist K., Emanuelsson M., Wiklund F., et al. Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome. Clin Genet 68 (2005) 533-541
-
(2005)
Clin Genet
, vol.68
, pp. 533-541
-
-
Cederquist, K.1
Emanuelsson, M.2
Wiklund, F.3
-
34
-
-
2442708840
-
Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history
-
Buttin B.M., Powell M.A., Mutch D.G., et al. Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history. Am J Hum Genet 74 (2004) 1262-1269
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1262-1269
-
-
Buttin, B.M.1
Powell, M.A.2
Mutch, D.G.3
-
35
-
-
33645826906
-
Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study
-
Jenkins M.A., Baglietto L., Dowty J.G., et al. Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study. Clin Gastroenterol Hepatol 4 (2006) 489-498
-
(2006)
Clin Gastroenterol Hepatol
, vol.4
, pp. 489-498
-
-
Jenkins, M.A.1
Baglietto, L.2
Dowty, J.G.3
-
36
-
-
33749066191
-
Prediction of germline mutations and cancer risk in the Lynch syndrome
-
Chen S., Wang W., Lee S., et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 296 (2006) 1479-1487
-
(2006)
JAMA
, vol.296
, pp. 1479-1487
-
-
Chen, S.1
Wang, W.2
Lee, S.3
-
37
-
-
70349366459
-
Lynch syndrome cancer risks for MSH6 mutation carriers
-
in press
-
Baglietto L., Lindor N., Dowty J., et al. Lynch syndrome cancer risks for MSH6 mutation carriers. J Natl Cancer Inst (2009) in press
-
(2009)
J Natl Cancer Inst
-
-
Baglietto, L.1
Lindor, N.2
Dowty, J.3
-
39
-
-
37249079114
-
Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1
-
Kruger 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 (2008) 62-72
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 62-72
-
-
Kruger, S.1
Kinzel, M.2
Walldorf, C.3
-
40
-
-
34249030956
-
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies
-
Poley J.W., Wagner A., Hoogmans M.M., et al. Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. Cancer 109 (2007) 2349-2356
-
(2007)
Cancer
, vol.109
, pp. 2349-2356
-
-
Poley, J.W.1
Wagner, A.2
Hoogmans, M.M.3
-
41
-
-
33847084436
-
Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer
-
Will O., Carvajal-Carmona L.G., Gorman P., et al. Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer. Gastroenterology 132 (2007) 527-530
-
(2007)
Gastroenterology
, vol.132
, pp. 527-530
-
-
Will, O.1
Carvajal-Carmona, L.G.2
Gorman, P.3
-
42
-
-
19044363122
-
Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer
-
Worthley D.L., Walsh M.D., Barker M., et al. Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. Gastroenterology 128 (2005) 1431-1436
-
(2005)
Gastroenterology
, vol.128
, pp. 1431-1436
-
-
Worthley, D.L.1
Walsh, M.D.2
Barker, M.3
|