-
1
-
-
0031035359
-
The founder mutations 185delAG and 5382insc in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early onset breast cancer patients among Ashkenazi woman
-
Abeliovich D, Kaduri L, Lerer I, Weinberg N et al (1997) The founder mutations 185delAG and 5382insc in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early onset breast cancer patients among Ashkenazi woman. Am J Hum Genet 60:505-514
-
(1997)
Am J Hum Genet
, vol.60
, pp. 505-514
-
-
Abeliovich, D.1
Kaduri, L.2
Lerer, I.3
Weinberg, N.4
-
2
-
-
0029138106
-
Microwavebased DNA extraction from paraffin-embedded tissue for PCR amplification
-
Banjerjee SK, Maldisi WF, Weston AP et al (1995) Microwavebased DNA extraction from paraffin-embedded tissue for PCR amplification. BioTechniques 18:768-773
-
(1995)
BioTechniques
, vol.18
, pp. 768-773
-
-
Banjerjee, S.K.1
Maldisi, W.F.2
Weston, A.P.3
-
3
-
-
2342464930
-
MSH2 c. 1452-1455de1AATG is a founder mutation and an important cause of Hereditary Nonpolyposis Colorectal Cancer in the southern Chinese population
-
Chan TL, Wai Chan Y, Ho JW et al (2004) MSH2 c. 1452-1455de1AATG is a founder mutation and an important cause of Hereditary Nonpolyposis Colorectal Cancer in the southern Chinese population. Am J Hum Genet 74:1035-1042
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1035-1042
-
-
Chan, T.L.1
Wai Chan, Y.2
Ho, J.W.3
-
4
-
-
33749066191
-
Prediction of germline mutations and cancer risk in the lynch syndrome
-
Chen S et al (2006) Prediction of germline mutations and cancer risk in the lynch syndrome. JAMA 296:1479-1487
-
(2006)
JAMA
, vol.296
, pp. 1479-1487
-
-
Chen, S.1
-
5
-
-
0036917758
-
The founder mutation MSH2*1906G?C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population
-
Foulkes W, Thiffault I, Gruber SB et al (2002) 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)
Am J Hum Genet
, vol.71
, Issue.6
, pp. 1395-1412
-
-
Foulkes, W.1
Thiffault, I.2
Gruber, S.B.3
-
6
-
-
0029597808
-
Microsatellite instability and alterations in the hMSH2 gene in human ovarian cancer
-
Fujita M et al (1995) Microsatellite instability and alterations in the hMSH2 gene in human ovarian cancer. Int J Cancer 64(6):361-366
-
(1995)
Int J Cancer
, vol.64
, Issue.6
, pp. 361-366
-
-
Fujita, M.1
-
7
-
-
55949091468
-
Mutation spectrum in HNPCC in the Israeli population
-
Goldberg Y, Porat RM, Kedar I, Shochat C, Sagi M, Eilat A, Mendelson S, Hamburger T, Nissan A, Hubert A, Kadouri L, Pikarski E, Lerer I, Abeliovich D, Bercovich D, Peretz T (2008) Mutation spectrum in HNPCC in the Israeli population. Fam Cancer
-
(2008)
Fam Cancer
-
-
Goldberg, Y.1
Porat, R.M.2
Kedar, I.3
Shochat, C.4
Sagi, M.5
Eilat, A.6
Mendelson, S.7
Hamburger, T.8
Nissan, A.9
Hubert, A.10
Kadouri, L.11
Pikarski, E.12
Lerer, I.13
Abeliovich, D.14
Bercovich, D.15
Peretz, T.16
-
8
-
-
34147129607
-
Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: Role in presurgical management
-
Guillem JG, Glogowski E, Moore HG, Nafa K, Markowitz AJ, Shia J, Offit K, Ellis NA (2007) Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management. Ann Surg 245(4):560-565
-
(2007)
Ann Surg
, vol.245
, Issue.4
, pp. 560-565
-
-
Guillem, J.G.1
Glogowski, E.2
Moore, H.G.3
Nafa, K.4
Markowitz, A.J.5
Shia, J.6
Offit, K.7
Ellis, N.A.8
-
9
-
-
26944451323
-
Assay validation for identification of hereditary nonpolyposis colon cancercausing mutations in mismatch repair genes MLH1, MSH2, and MSH6
-
Hegde M, Blazo M, Chong B, Prior T et al (2005) Assay validation for identification of hereditary nonpolyposis colon cancercausing mutations in mismatch repair genes MLH1, MSH2, and MSH6. J Mol Diagn 7(4):525-534
-
(2005)
J Mol Diagn
, vol.7
, Issue.4
, pp. 525-534
-
-
Hegde, M.1
Blazo, M.2
Chong, B.3
Prior, T.4
-
10
-
-
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 (2004) Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 127(1):17-25
-
(2004)
Gastroenterology
, vol.127
, Issue.1
, pp. 17-25
-
-
Hendriks, Y.M.1
Wagner, A.2
Morreau, H.3
-
11
-
-
10744223648
-
A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States
-
Lynch HT, Coronel SM, Okimoto R et al (2004) A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. JAMA 291:718-724
-
(2004)
JAMA
, vol.291
, pp. 718-724
-
-
Lynch, H.T.1
Coronel, S.M.2
Okimoto, R.3
-
12
-
-
0029851496
-
Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer
-
Moisio AL, Sistonen P, Weissenbach J et al (1996) Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet 59:1243-1251
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1243-1251
-
-
Moisio, A.L.1
Sistonen, P.2
Weissenbach, J.3
-
13
-
-
68449090265
-
Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population
-
Nilbert M, Wikman FP, Hansen TV, Krarup HB, Orntoft TF, Nielsen FC, Sunde L, Gerdes AM, Cruger D, Timshel S, Bisgaard ML, Bernstein I, Okkels H (2008) Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. Fam Cancer
-
(2008)
Fam Cancer
-
-
Nilbert, M.1
Wikman, F.P.2
Hansen, T.V.3
Krarup, H.B.4
Orntoft, T.F.5
Nielsen, F.C.6
Sunde, L.7
Gerdes, A.M.8
Cruger, D.9
Timshel, S.10
Bisgaard, M.L.11
Bernstein, I.12
Okkels, H.13
-
14
-
-
0028845693
-
Founding mutations and Alu-mediated recombination in hereditary colon cancer
-
Nystrom-Lahti M, Kristo P, Nicolaides NC et al (1995) Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med 1:1203-1206
-
(1995)
Nat Med
, vol.1
, pp. 1203-1206
-
-
Nystrom-Lahti, M.1
Kristo, P.2
Nicolaides, N.C.3
-
15
-
-
0142053924
-
MSH6 germline mutations are rare in colorectal cancer families
-
Peterlongo P et al (2003) MSH6 germline mutations are rare in colorectal cancer families. Int J Cancer 107(4):571-579
-
(2003)
Int J Cancer
, vol.107
, Issue.4
, pp. 571-579
-
-
Peterlongo, P.1
-
16
-
-
0031551963
-
A National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: Meeting highlights and Bethesda guidelines
-
Rodriguez-Bigas MA, Boland CR et al (1997) A National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89:1758-1762
-
(1997)
J Natl Cancer Inst
, vol.89
, pp. 1758-1762
-
-
Rodriguez-Bigas, M.A.1
Boland, C.R.2
-
17
-
-
0034530575
-
Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer
-
Shiri-Sverdlov R et al (2000) Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer. Hum Mutat 16(6):491-501
-
(2000)
Hum Mutat
, vol.16
, Issue.6
, pp. 491-501
-
-
Shiri-Sverdlov, R.1
-
18
-
-
26944479284
-
The HNPCC associated MSH2*1906G C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population
-
Sun S et al (2005) The HNPCC associated MSH2*1906G C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population. J Med Genet 42:766-768
-
(2005)
J Med Genet
, vol.42
, pp. 766-768
-
-
Sun, S.1
-
19
-
-
10744226607
-
Germline truncating mutations in both MSH2 and BRCA2 in a single kindred
-
Thiffault I, Hamel N, Pal T, McVety S, Marcus VA, Farber D, Cowie S, Deschênes J, Meschino W, Odefrey F, Goldgar D, Graham T, Narod S, Watters AK, MacNamara E, Du Sart D, Chong G, Foulkes WD (2004) Germline truncating mutations in both MSH2 and BRCA2 in a single kindred. Br J Cancer 90(2):483-491
-
(2004)
Br J Cancer
, vol.90
, Issue.2
, pp. 483-491
-
-
Thiffault, I.1
Hamel, N.2
Pal, T.3
McVety, S.4
Marcus, V.A.5
Farber, D.6
Cowie, S.7
Deschênes, J.8
Meschino, W.9
Odefrey, F.10
Goldgar, D.11
Graham, T.12
Narod, S.13
Watters, A.K.14
MacNamara, E.15
Du Sart, D.16
Chong, G.17
Foulkes, W.D.18
-
20
-
-
77955058100
-
Homozygosity of MSH2 c.1906G>[C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I
-
Toledano H, Goldberg Y, Kedar-Barnes I, Baris H, Porat RM, Shochat C, Bercovich D, Pikarsky E, Lerer I, Yaniv I, Abeliovich D, Peretz T (2008) Homozygosity of MSH2 c.1906G>[C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I. Fam Cancer
-
(2008)
Fam Cancer
-
-
Toledano, H.1
Goldberg, Y.2
Kedar-Barnes, I.3
Baris, H.4
Porat, R.M.5
Shochat, C.6
Bercovich, D.7
Pikarsky, E.8
Lerer, I.9
Yaniv, I.10
Abeliovich, D.11
Peretz, T.12
-
21
-
-
10744233937
-
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
-
Umar A, Boland CR, Terdiman JP et al (2004) Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96:261-268 (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..
-
22
-
-
77955055877
-
-
http://www.insight-group.org/mutations
-
-
-
-
23
-
-
77955058264
-
-
(GenBank Accession no. NM000249, NM000251, and NM000179 for MLH1, MSH2, and MSH6, respectively)
-
http://genome.ucsc.edu: (GenBank Accession no. NM000249, NM000251, and NM000179 for MLH1, MSH2, and MSH6, respectively)
-
-
-
-
24
-
-
77955051998
-
-
and the HGVbase (http://hgvbase.cgb.ki.se/)
-
http://www.ncbi.nlm.nih.gov/SNP/) and the HGVbase (http://hgvbase.cgb.ki. se/)
-
-
-
-
25
-
-
77955049734
-
-
http://primer3.sourceforge.net
-
-
-
|