-
1
-
-
31744431759
-
Inherited susceptibility for pediatric cancer
-
Plon SE, Nathanson K. Inherited susceptibility for pediatric cancer. Cancer J 2005;11:255-267.
-
(2005)
Cancer J
, vol.11
, pp. 255-267
-
-
Plon, S.E.1
Nathanson, K.2
-
2
-
-
2642647094
-
Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer
-
Versteege I, Sevenet N, Lange J, et al. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 1998;394: 203-206.
-
(1998)
Nature
, vol.394
, pp. 203-206
-
-
Versteege, I.1
Sevenet, N.2
Lange, J.3
-
3
-
-
0032940605
-
Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors
-
Biegel JA, Zhou JY, Rorke LB, et al. Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res 1999;59:74-79.
-
(1999)
Cancer Res
, vol.59
, pp. 74-79
-
-
Biegel, J.A.1
Zhou, J.Y.2
Rorke, L.B.3
-
4
-
-
78649675614
-
Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors
-
Eaton K, Tooke LS, Wainwright LM, et al. Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer 2011;56:7-15.
-
(2011)
Pediatr Blood Cancer
, vol.56
, pp. 7-15
-
-
Eaton, K.1
Tooke, L.S.2
Wainwright, L.M.3
-
5
-
-
1642315917
-
Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood
-
Hirsch B, Shimamura A, Moreau L, et al. Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. Blood 2004;103: 2554-2559.
-
(2004)
Blood
, vol.103
, pp. 2554-2559
-
-
Hirsch, B.1
Shimamura, A.2
Moreau, L.3
-
6
-
-
48249117488
-
Multiple tumors in a child with germ-line mutations in TP53 and PTEN
-
Plon SE, Pirics ML, Nuchtern J, et al. Multiple tumors in a child with germ-line mutations in TP53 and PTEN. N Engl J Med 2008; 359:537-539.
-
(2008)
N Engl J Med
, vol.359
, pp. 537-539
-
-
Plon, S.E.1
Pirics, M.L.2
Nuchtern, J.3
-
7
-
-
33749993417
-
The consensus coding sequences of human breast and colorectal cancers
-
Sjoblom T, Jones S, Wood LD, et al. The consensus coding sequences of human breast and colorectal cancers. Science 2006;314:268-274.
-
(2006)
Science
, vol.314
, pp. 268-274
-
-
Sjoblom, T.1
Jones, S.2
Wood, L.D.3
-
8
-
-
34548084253
-
SNPdetector: a software tool for sensitive and accurate SNP detection
-
Zhang J, Wheeler DA, Yakub I, et al. SNPdetector: a software tool for sensitive and accurate SNP detection. PLoS Comput Biol 2005;1:-53.
-
(2005)
PLoS Comput Biol
, vol.1
, pp. 53
-
-
Zhang, J.1
Wheeler, D.A.2
Yakub, I.3
-
9
-
-
47549119057
-
Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions
-
Wong LJ, Dimmock D, Geraghty MT, et al. Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions. Clin Chem 2008;54: 1141-1148.
-
(2008)
Clin Chem
, vol.54
, pp. 1141-1148
-
-
Wong, L.J.1
Dimmock, D.2
Geraghty, M.T.3
-
10
-
-
0344284564
-
Interaction of mismatch repair protein PMS2 and the p53-related transcription factor p73 in apoptosis response to cisplatin
-
Shimodaira H, Yoshioka-Yamashita A, Kolodner RD, et al. Interaction of mismatch repair protein PMS2 and the p53-related transcription factor p73 in apoptosis response to cisplatin. Proc Natl Acad Sci USA 2003;100:2420-2425.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 2420-2425
-
-
Shimodaira, H.1
Yoshioka-Yamashita, A.2
Kolodner, R.D.3
-
11
-
-
30144433531
-
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation
-
Gripp KW, Lin AE, Stabley DL, et al. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet A 2006;140:1-7.
-
(2006)
NAm J Med Genet A
, vol.140
, pp. 1-7
-
-
Gripp, K.W.1
Lin, A.E.2
Stabley, D.L.3
-
12
-
-
2342506542
-
Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome
-
De Vos M, Hayward BE, Picton S, et al. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am J Hum Genet 2004;74: 954-964.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 954-964
-
-
De Vos, M.1
Hayward, B.E.2
Picton, S.3
-
13
-
-
77949487616
-
Common variants in human CRC genes as low-risk alleles
-
Picelli S, Zajac P, Zhou XL, et al. Common variants in human CRC genes as low-risk alleles. Eur J Cancer 2010;46: 1041-1048.
-
(2010)
Eur J Cancer
, vol.46
, pp. 1041-1048
-
-
Picelli, S.1
Zajac, P.2
Zhou, X.L.3
-
14
-
-
33745208440
-
MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas
-
Liboutet M, Portela M, Delestaing G, et al. MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas. J Invest Dermatol 2006;126:1510-1517.
-
(2006)
J Invest Dermatol
, vol.126
, pp. 1510-1517
-
-
Liboutet, M.1
Portela, M.2
Delestaing, G.3
-
15
-
-
33746594132
-
Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation
-
Janson K, Nedzi LA, David O, et al. Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation. Pediatr Blood Cancer 2006;47:279-284.
-
(2006)
Pediatr Blood Cancer
, vol.47
, pp. 279-284
-
-
Janson, K.1
Nedzi, L.A.2
David, O.3
-
16
-
-
0036164386
-
Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms
-
Yuan ZQ, Gottlieb B, Beitel LK, et al. Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms. Hum Mutat 2002;19:108-113.
-
(2002)
Hum Mutat
, vol.19
, pp. 108-113
-
-
Yuan, Z.Q.1
Gottlieb, B.2
Beitel, L.K.3
-
17
-
-
0038501057
-
American Society of Clinical Oncology policy statement update: genetic testing for cancer, susceptibility
-
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol 2003;21: 2397-2406.
-
(2003)
J. Clin Oncol
, vol.21
, pp. 2397-2406
-
-
-
18
-
-
54049094708
-
Identification of ALK as a major familial neuroblastoma predisposition gene
-
Mosse YP, Laudenslager M, Longo L, et al. Identification of ALK as a major familial neuroblastoma predisposition gene. Nature 2008;455:930-935.
-
(2008)
Nature
, vol.455
, pp. 930-935
-
-
Mosse, Y.P.1
Laudenslager, M.2
Longo, L.3
-
19
-
-
34147192050
-
Germline mutation of INI1/SMARCB1 in familial schwannomatosis
-
Hulsebos TJ, Plomp AS, Wolterman RA, et al. Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet 2007;80:805-810.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 805-810
-
-
Hulsebos, T.J.1
Plomp, A.S.2
Wolterman, R.A.3
-
20
-
-
52449103743
-
Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis
-
Boyd C, Smith MJ, Kluwe L, et al. Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. Clin Genet 2008;74:358-366.
-
(2008)
Clin Genet
, vol.74
, pp. 358-366
-
-
Boyd, C.1
Smith, M.J.2
Kluwe, L.3
-
21
-
-
58549117718
-
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1
-
Swensen JJ, Keyser J, Coffin CM, et al. Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. J Med Genet 2009;46:68-72.
-
(2009)
J Med Genet
, vol.46
, pp. 68-72
-
-
Swensen, J.J.1
Keyser, J.2
Coffin, C.M.3
-
22
-
-
34247576595
-
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype
-
Kalb R, Neveling K, Hoehn H, et al. Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. Am J Hum Genet 2007;80:895-910.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 895-910
-
-
Kalb, R.1
Neveling, K.2
Hoehn, H.3
-
23
-
-
58049218775
-
1000 Genomes Project promises closer look at variation in human genome
-
Kuehn BM. 1000 Genomes Project promises closer look at variation in human genome. JAMA 2008;300:2715.
-
(2008)
AMA
, vol.300
, pp. 2715
-
-
Kuehn, B.M.1
-
24
-
-
0038738036
-
Chromosomal fragility syndrome and family history of radiosensitivity as indicators for radiotherapy dose modification
-
Alsbeih G, Story MD, Maor MH, et al. Chromosomal fragility syndrome and family history of radiosensitivity as indicators for radiotherapy dose modification. Radiother Oncol 2003;66: 341-344.
-
(2003)
Radiother Oncol
, vol.66
, pp. 341-344
-
-
Alsbeih, G.1
Story, M.D.2
Maor, M.H.3
-
25
-
-
0026530299
-
Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms
-
Malkin D, Jolly KW, Barbier N, et al. Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. N Engl J Med 1992;326: 1309-1315.
-
(1992)
N Engl J Med
, vol.326
, pp. 1309-1315
-
-
Malkin, D.1
Jolly, K.W.2
Barbier, N.3
|