-
1
-
-
80053022230
-
Li-Fraumeni syndrome
-
Malkin D (2011) Li-Fraumeni syndrome. Genes Cancer 2: 475-484
-
(2011)
Genes Cancer
, vol.2
, pp. 475-484
-
-
Malkin, D.1
-
2
-
-
0035133356
-
Sensitivity and predictive value of criteria for p53 germline mutation screening [1]
-
Chompret A, Abel A, Stoppa-Lyonnet D, Brugières L, Pagès S, Feunteun J, Bonaïti-Pellié C (2001) Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 38:43-47 (Pubitemid 32102322)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.1
, pp. 43-47
-
-
Chompret, A.1
Abel, A.2
Stoppa-Lyonnet, D.3
Brugieres, L.4
Pages, S.5
Feunteun, J.6
Bonaiti-Pellie, C.7
-
3
-
-
50049112746
-
Molecular basis of the Li Fraumeni syndrome: An update from the French LFS families
-
French LFS Working Group
-
Bougeard G, Sesboüé R, Baert-Desurmont S, Vasseur S, Martin C, Tinat J, Brugières L, Chompret A, Bressac-de Paillerets B, Stoppa-Lyonnet D, Bonaïti-Pellié C, Frébourg T, French LFS Working Group (2008) Molecular basis of the Li Fraumeni syndrome: an update from the French LFS families. J Med Genet 45:535-538
-
(2008)
J Med Genet
, vol.45
, pp. 535-538
-
-
Bougeard, G.1
Sesboüé, R.2
Baert-Desurmont, S.3
Vasseur, S.4
Martin, C.5
Tinat, J.6
Brugières, L.7
Chompret, A.8
Bressac-De Paillerets, B.9
Stoppa-Lyonnet, D.10
Bonaïti-Pellié, C.11
Frébourg, T.12
-
4
-
-
70349320378
-
2009 Version of the Chompret criteria for Li Fraumeni syndrome
-
Tinat J, Bougeard G, Baert-Desurmont S, Vasseur S, Martin C, Bouvignies E, Caron O, Bressac-de Paillerets B, Berthet P, Dugast C, Bonaïti- Pellié C, Stoppa-Lyonnet D, Frébourg T (2009) 2009 Version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol 27:e108-e109
-
(2009)
J Clin Oncol
, vol.27
-
-
Tinat, J.1
Bougeard, G.2
Baert-Desurmont, S.3
Vasseur, S.4
Martin, C.5
Bouvignies, E.6
Caron, O.7
Bressac-De Paillerets, B.8
Berthet, P.9
Dugast, C.10
Bonaïti- Pellié, C.11
Stoppa-Lyonnet, D.12
Frébourg, T.13
-
5
-
-
84873986248
-
Drastic effect of germline TP53 missense mutations in Li-Fraumeni patients
-
Zerdoumi Y, Aury-Landas J, Bonaïti-Pellié C, Derambure C, Sesboüé R, Renaux-Petel M, Frebourg T, Bougeard G, Flaman JM (2013) Drastic effect of germline TP53 missense mutations in Li-Fraumeni patients. Hum Mutat 34:453-461
-
(2013)
Hum Mutat
, vol.34
, pp. 453-461
-
-
Zerdoumi, Y.1
Aury-Landas, J.2
Bonaïti-Pellié, C.3
Derambure, C.4
Sesboüé, R.5
Renaux-Petel, M.6
Frebourg, T.7
Bougeard, G.8
Flaman, J.M.9
-
6
-
-
8844278362
-
A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans
-
DOI 10.1016/j.cell.2004.11.022, PII S0092867404010517
-
Bond GL, Hu W, Bond EE, Robins H, Lutzker SG, Arva NC, Bargonetti J, Bartel F, Taubert H, Wuerl P, Onel K, Yip L, Hwang SJ, Strong LC, Lozano G, Levine AJ (2004) A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans. Cell 119:591-602 (Pubitemid 39535748)
-
(2004)
Cell
, vol.119
, Issue.5
, pp. 591-602
-
-
Bond, G.L.1
Hu, W.2
Bond, E.E.3
Robins, H.4
Lutzker, S.G.5
Arva, N.C.6
Bargonetti, J.7
Bartel, F.8
Taubert, H.9
Wuerl, P.10
Onel, K.11
Yip, L.12
Hwang, S.-J.13
Strong, L.C.14
Lozano, G.15
Levine, A.J.16
-
7
-
-
33745235771
-
Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome
-
DOI 10.1136/jmg.2005.037952
-
Bougeard G, Baert-Desurmont S, Tournier I, Vasseur S, Martin C, Brugières L, Chompret A, Bressac-de Paillerets B, Stoppa-Lyonnet D, Bonaiti-Pellié C, Frebourg T (2006) Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome. J Med Genet 43:531-533 (Pubitemid 43927330)
-
(2006)
Journal of Medical Genetics
, vol.43
, Issue.6
, pp. 531-533
-
-
Bougeard, G.1
Baert-Desurmont, S.2
Tournier, I.3
Vasseur, S.4
Martin, C.5
Brugieres, L.6
Chompret, A.7
Bressac-De, P.B.8
Stoppa-Lyonnet, D.9
Bonaiti-Pellie, C.10
Frebourg, T.11
-
8
-
-
33845530151
-
The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes
-
DOI 10.1038/sj.ejhg.5201715, PII 5201715
-
Ruijs MW, Schmidt MK, Nevanlinna H, Tommiska J, Aittomäki K, Pruntel R, Verhoef S, Van't Veer LJ (2007) The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes. Eur J Hum Genet 15:110-114 (Pubitemid 44921674)
-
(2007)
European Journal of Human Genetics
, vol.15
, Issue.1
, pp. 110-114
-
-
Ruijs, M.W.G.1
Schmidt, M.K.2
Nevanlinna, H.3
Tommiska, J.4
Aittomaki, K.5
Pruntel, R.6
Verhoef, S.7
Van't, V.L.J.8
-
9
-
-
72449128179
-
TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: Impact on age at first diagnosis
-
Marcel V, Palmero EI, Falagan-Lotsch P, Martel-Planche G, Ashton-Prolla P, Olivier M, Brentani RR, Hainaut P, Achatz MI (2009) TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis. J Med Genet 46:766-772
-
(2009)
J Med Genet
, vol.46
, pp. 766-772
-
-
Marcel, V.1
Palmero, E.I.2
Falagan-Lotsch, P.3
Martel-Planche, G.4
Ashton-Prolla, P.5
Olivier, M.6
Brentani, R.R.7
Hainaut, P.8
Achatz, M.I.9
-
10
-
-
79959733533
-
Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome
-
Wu CC, Krahe R, Lozano G, Zhang B, Wilson CD, Jo EJ, Amos CI, Shete S, Strong LC (2011) Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome. Hum Genet 129:663-673
-
(2011)
Hum Genet
, vol.129
, pp. 663-673
-
-
Wu, C.C.1
Krahe, R.2
Lozano, G.3
Zhang, B.4
Wilson, C.D.5
Jo, E.J.6
Amos, C.I.7
Shete, S.8
Strong, L.C.9
-
11
-
-
55349146001
-
MDM2 SNP309 is associated with high grade node positive breast tumours and is in linkage disequilibrium with a novel MDM2 intron 1 polymorphism
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Paulin FE, O'Neill M, McGregor G, Cassidy A, Ashfield A, Ali CW, Munro AJ, Baker L, Purdie CA, Lane DP, Thompson AM (2008) MDM2 SNP309 is associated with high grade node positive breast tumours and is in linkage disequilibrium with a novel MDM2 intron 1 polymorphism. BMC Cancer 8:281
-
(2008)
BMC Cancer
, vol.8
, pp. 281
-
-
Paulin, F.E.1
O'Neill, M.2
McGregor, G.3
Cassidy, A.4
Ashfield, A.5
Ali, C.W.6
Munro, A.J.7
Baker, L.8
Purdie, C.A.9
Lane, D.P.10
Thompson, A.M.11
-
12
-
-
79751471610
-
The MDM2 promoter SNP285C/309G haplotype diminishes Sp1 transcription factor binding and reduces risk for breast and ovarian cancer in Caucasians
-
Knappskog S, Bjørnslett M, Myklebust LM, Huijts PE, Vreeswijk MP, Edvardsen H, Guo Y, Zhang X, Yang M, Ylisaukko-Oja SK, Alhopuro P, Arola J, Tollenaar RA, van Asperen CJ, Seynaeve C, Staalesen V, Chrisanthar R, Løkkevik E, Salvesen HB, Evans DG, Newman WG, Lin D, Aaltonen LA, Børresen-Dale AL, Tell GS, Stoltenberg C, Romundstad P, Hveem K, Lillehaug JR, Vatten L, Devilee P, Dørum A, Lønning PE (2011) The MDM2 promoter SNP285C/309G haplotype diminishes Sp1 transcription factor binding and reduces risk for breast and ovarian cancer in Caucasians. Cancer Cell 19:273-282
-
(2011)
Cancer Cell
, vol.19
, pp. 273-282
-
-
Knappskog, S.1
Bjørnslett, M.2
Myklebust, L.M.3
Huijts, P.E.4
Vreeswijk, M.P.5
Edvardsen, H.6
Guo, Y.7
Zhang, X.8
Yang, M.9
Ylisaukko-Oja, S.K.10
Alhopuro, P.11
Arola, J.12
Tollenaar, R.A.13
Van Asperen, C.J.14
Seynaeve, C.15
Staalesen, V.16
Chrisanthar, R.17
Løkkevik, E.18
Salvesen, H.B.19
Evans, D.G.20
Newman, W.G.21
Lin, D.22
Aaltonen, L.A.23
Børresen-Dale, A.L.24
Tell, G.S.25
Stoltenberg, C.26
Romundstad, P.27
Hveem, K.28
Lillehaug, J.R.29
Vatten, L.30
Devilee, P.31
Dørum, A.32
Lønning, P.E.33
more..
-
13
-
-
44849121764
-
An information-theoretic analysis of genetics, gender and age in cancer patients
-
Atwal GS, Rabadán R, Lozano G, Strong LC, Ruijs MW, Schmidt MK, van't Veer LJ, Nevanlinna H, Tommiska J, Aittomäki K, Bougeard G, Frebourg T, Levine AJ, Bond GL (2008) An information-theoretic analysis of genetics, gender and age in cancer patients. PLoS One 3:e1951
-
(2008)
PLoS One
, vol.3
-
-
Atwal, G.S.1
Rabadán, R.2
Lozano, G.3
Strong, L.C.4
Ruijs, M.W.5
Schmidt, M.K.6
Van't Veer, L.J.7
Nevanlinna, H.8
Tommiska, J.9
Aittomäki, K.10
Bougeard, G.11
Frebourg, T.12
Levine, A.J.13
Bond, G.L.14
-
14
-
-
84860459353
-
SNP285C modulates oestrogen receptor/Sp1binding to the MDM2 promoter and reduces the risk of endometrial but not prostatic cancer
-
MoMaTEC Study Group
-
Knappskog S, Trovik J, Marcickiewicz J, Tingulstad S, Staff AC, MoMaTEC Study Group, Romundstad P, Hveem K, Vatten L, Salvesen HB, Lønning PE (2012) SNP285C modulates oestrogen receptor/Sp1binding to the MDM2 promoter and reduces the risk of endometrial but not prostatic cancer. Eur J Cancer 48:1988-1996
-
(2012)
Eur J Cancer
, vol.48
, pp. 1988-1996
-
-
Knappskog, S.1
Trovik, J.2
Marcickiewicz, J.3
Tingulstad, S.4
Staff, A.C.5
Romundstad, P.6
Hveem, K.7
Vatten, L.8
Salvesen, H.B.9
Lønning, P.E.10
-
15
-
-
78649833356
-
MDM2 as a modifier gene in retinoblastoma
-
Castéra L, Sabbagh A, Dehainault C, Michaux D, Mansuet-Lupo A, Patillon B, Lamar E, Aerts I, Lumbroso-Le Rouic L, Couturier J, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C (2010) MDM2 as a modifier gene in retinoblastoma. J Natl Cancer Inst 102:1805-1808
-
(2010)
J Natl Cancer Inst
, vol.102
, pp. 1805-1808
-
-
Castéra, L.1
Sabbagh, A.2
Dehainault, C.3
Michaux, D.4
Mansuet-Lupo, A.5
Patillon, B.6
Lamar, E.7
Aerts, I.8
Lumbroso-Le Rouic, L.9
Couturier, J.10
Stoppa-Lyonnet, D.11
Gauthier-Villars, M.12
Houdayer, C.13
-
16
-
-
36749002743
-
RAD51 135G>C modifies breast cancer risk among BRCA2 mutation carriers: Results from a combined analysis of 19 studies
-
Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers Study (GEMO), Epidemiological Study of BRCA1 and BRCA2 Mutation Carriers (EMBRACE), German Consortium for Hereditary Breast and Ovarian Cancer (GCHBOC), Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab), Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
-
Antoniou AC, Sinilnikova OM, Simard J, Léoné M, Dumont M, Neuhausen SL, Struewing JP, Stoppa-Lyonnet D, Barjhoux L, Hughes DJ, Coupier I, Belotti M, Lasset C, Bonadona V, Bignon YJ, Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers Study (GEMO), Rebbeck TR, Wagner T, Lynch HT, Domchek SM, Nathanson KL, Garber JE, Weitzel J, Narod SA, Tomlinson G, Olopade OI, Godwin A, Isaacs C, Jakubowska A, Lubinski J, Gronwald J, Górski B, Byrski T, Huzarski T, Peock S, Cook M, Baynes C, Murray A, Rogers M, Daly PA, Dorkins H, Epidemiological Study of BRCA1 and BRCA2 Mutation Carriers (EMBRACE), Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Niederacher D, Deissler H, German Consortium for Hereditary Breast and Ovarian Cancer (GCHBOC), Spurdle AB, Chen X, Waddell N, Cloonan N, Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab), Kirchhoff T, Offit K, Friedman E, Kaufmann B, Laitman Y, Galore G, Rennert G, Lejbkowicz F, Raskin L, Andrulis IL, Ilyushik E, Ozcelik H, Devilee P, Vreeswijk MP, Greene MH, Prindiville SA, Osorio A, Benitez J, Zikan M, Szabo CI, Kilpivaara O, Nevanlinna H, Hamann U, Durocher F, Arason A, Couch FJ, Easton DF, Chenevix-Trench G, Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) (2007) RAD51 135G>C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet 81:1186-1200
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1186-1200
-
-
Antoniou, A.C.1
Sinilnikova, O.M.2
Simard, J.3
Léoné, M.4
Dumont, M.5
Neuhausen, S.L.6
Struewing, J.P.7
Stoppa-Lyonnet, D.8
Barjhoux, L.9
Hughes, D.J.10
Coupier, I.11
Belotti, M.12
Lasset, C.13
Bonadona, V.14
Bignon, Y.J.15
Rebbeck, T.R.16
Wagner, T.17
Lynch, H.T.18
Domchek, S.M.19
Nathanson, K.L.20
Garber, J.E.21
Weitzel, J.22
Narod, S.A.23
Tomlinson, G.24
Olopade, O.I.25
Godwin, A.26
Isaacs, C.27
Jakubowska, A.28
Lubinski, J.29
Gronwald, J.30
Górski, B.31
Byrski, T.32
Huzarski, T.33
Peock, S.34
Cook, M.35
Baynes, C.36
Murray, A.37
Rogers, M.38
Daly, P.A.39
Dorkins, H.40
Schmutzler, R.K.41
Versmold, B.42
Engel, C.43
Meindl, A.44
Arnold, N.45
Niederacher, D.46
Deissler, H.47
Spurdle, A.B.48
Chen, X.49
Waddell, N.50
Cloonan, N.51
Kirchhoff, T.52
Offit, K.53
Friedman, E.54
Kaufmann, B.55
Laitman, Y.56
Galore, G.57
Rennert, G.58
Lejbkowicz, F.59
Raskin, L.60
Andrulis, I.L.61
Ilyushik, E.62
Ozcelik, H.63
Devilee, P.64
Vreeswijk, M.P.65
Greene, M.H.66
Prindiville, S.A.67
Osorio, A.68
Benitez, J.69
Zikan, M.70
Szabo, C.I.71
Kilpivaara, O.72
Nevanlinna, H.73
Hamann, U.74
Durocher, F.75
Arason, A.76
Couch, F.J.77
Easton, D.F.78
Chenevix-Trench, G.79
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