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Items: 1 to 20 of 184

1.

Germline mutations in the TP53 gene.

Eeles RA.

Cancer Surv. 1995;25:101-24. Review.

PMID:
8718514
2.

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.

Ruijs MW, Verhoef S, Rookus MA, Pruntel R, van der Hout AH, Hogervorst FB, Kluijt I, Sijmons RH, Aalfs CM, Wagner A, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gomez Garcia EB, Meijers-Heijboer H, Ten Kate LP, Menko FH, van 't Veer LJ.

J Med Genet. 2010 Jun;47(6):421-8. doi: 10.1136/jmg.2009.073429.

PMID:
20522432
3.

Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype.

Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA.

Cancer Res. 2003 Oct 15;63(20):6643-50.

4.

Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.

Varley JM, McGown G, Thorncroft M, Santibanez-Koref MF, Kelsey AM, Tricker KJ, Evans DG, Birch JM.

Cancer Res. 1997 Aug 1;57(15):3245-52.

5.

A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li-Fraumeni patients carrying a mutation to the TP53 gene.

Varley JM, Thorncroft M, McGown G, Appleby J, Kelsey AM, Tricker KJ, Evans DG, Birch JM.

Oncogene. 1997 Feb 20;14(7):865-71.

6.

The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations.

Finkova A, Vazna A, Hrachovina O, Bendova S, Prochazkova K, Sedlacek Z.

Cancer Genet Cytogenet. 2009 Aug;193(1):63-6. doi: 10.1016/j.cancergencyto.2009.04.014.

PMID:
19602465
7.

High frequency of germline p53 mutations in childhood adrenocortical cancer.

Wagner J, Portwine C, Rabin K, Leclerc JM, Narod SA, Malkin D.

J Natl Cancer Inst. 1994 Nov 16;86(22):1707-10.

PMID:
7966399
8.

Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome.

Birch JM, Blair V, Kelsey AM, Evans DG, Harris M, Tricker KJ, Varley JM.

Oncogene. 1998 Sep 3;17(9):1061-8.

9.

Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.

Giacomazzi J, Selistre SG, Rossi C, Alemar B, Santos-Silva P, Pereira FS, Netto CB, Cossio SL, Roth DE, Brunetto AL, Zagonel-Oliveira M, Martel-Planche G, Goldim JR, Hainaut P, Camey SA, Ashton-Prolla P.

Cancer. 2013 Dec 15;119(24):4341-9. doi: 10.1002/cncr.28346.

10.

The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.

Achatz MI, Olivier M, Le Calvez F, Martel-Planche G, Lopes A, Rossi BM, Ashton-Prolla P, Giugliani R, Palmero EI, Vargas FR, Da Rocha JC, Vettore AL, Hainaut P.

Cancer Lett. 2007 Jan 8;245(1-2):96-102.

PMID:
16494995
11.

Detection of novel germ-line p53 mutations in diverse-cancer-prone families identified by selecting patients with childhood adrenocortical carcinoma.

Sameshima Y, Tsunematsu Y, Watanabe S, Tsukamoto T, Kawa-ha K, Hirata Y, Mizoguchi H, Sugimura T, Terada M, Yokota J.

J Natl Cancer Inst. 1992 May 6;84(9):703-7.

PMID:
1569604
12.

Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age.

Trkova M, Prochazkova K, Krutilkova V, Sumerauer D, Sedlacek Z.

Cancer. 2007 Aug 1;110(3):694-702.

13.

A germline 2.35 kb deletion of p53 genomic DNA creating a specific loss of the oligomerization domain inherited in a Li-Fraumeni syndrome family.

Plummer SJ, Santibáñez-Koref M, Kurosaki T, Liao S, Noble B, Fain PR, Anton-Culver H, Casey G.

Oncogene. 1994 Nov;9(11):3273-80.

PMID:
7936651
14.

A new germline TP53 gene mutation in a family with Li-Fraumeni syndrome.

Dockhorn-Dworniczak B, Wolff J, Poremba C, Schäfer KL, Ritter J, Gullotta F, Jürgens H, Böcker W.

Eur J Cancer. 1996 Jul;32A(8):1359-65.

PMID:
8869100
15.

Identification of a rare polymorphism in the human TP53 promoter.

Attwooll CL, McGown G, Thorncroft M, Stewart FJ, Birch JM, Varley JM.

Cancer Genet Cytogenet. 2002 Jun;135(2):165-72.

PMID:
12127401
16.

Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.

Güran S, Tunca Y, Imirzalioğlu N.

Cancer Genet Cytogenet. 1999 Sep;113(2):145-51.

PMID:
10484981
17.

A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome.

Kim IJ, Kang HC, Shin Y, Park HW, Jang SG, Han SY, Lim SK, Lee MR, Chang HJ, Ku JL, Yang HK, Park JG.

J Hum Genet. 2004;49(11):591-5.

PMID:
15368100
18.

Analysis of Li-Fraumeni syndrome and Li-Fraumeni-like families for germline mutations in Bcl10.

Stone JG, Eeles RA, Sodha N, Murday V, Sheriden E, Houlston RS.

Cancer Lett. 1999 Dec 1;147(1-2):181-5.

PMID:
10660104
19.

Germline TP53 mutations and Li-Fraumeni syndrome.

Varley JM.

Hum Mutat. 2003 Mar;21(3):313-20. Review. Erratum in: Hum Mutat. 2003 May;21(5):551.

PMID:
12619118
20.

A novel, de novo germline TP53 mutation in a rare presentation of the Li-Fraumeni syndrome in the maxilla.

Patrikidou A, Bennett J, Abou-Sleiman P, Delhanty JD, Harris M.

Oral Oncol. 2002 Jun;38(4):383-90.

PMID:
12076704
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