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Results: 1 to 20 of 311

1.

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
[PubMed - indexed for MEDLINE]
2.

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. Epub 2013 Oct 7.

PMID:
24122735
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
14583457
[PubMed - indexed for MEDLINE]
Free Article
5.

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. Epub 2006 Feb 21.

PMID:
16494995
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
9764816
[PubMed - indexed for MEDLINE]
Free Article
7.

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
[PubMed - indexed for MEDLINE]
8.

TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.

Pinto C, Veiga I, Pinheiro M, Peixoto A, Pinto A, Lopes JM, Reis RM, Oliveira C, Baptista M, Roque L, Regateiro F, Cirnes L, Hofstra RM, Seruca R, Castedo S, Teixeira MR.

Fam Cancer. 2009;8(4):383-90. doi: 10.1007/s10689-009-9251-y. Epub 2009 May 26.

PMID:
19468865
[PubMed - indexed for MEDLINE]
9.

The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes.

Ruijs MW, Schmidt MK, Nevanlinna H, Tommiska J, Aittomäki K, Pruntel R, Verhoef S, Van't Veer LJ.

Eur J Hum Genet. 2007 Jan;15(1):110-4. Epub 2006 Sep 27.

PMID:
17003841
[PubMed - indexed for MEDLINE]
Free Article
10.

Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.

Bougeard G, Sesboüé R, Baert-Desurmont S, Vasseur S, Martin C, Tinat J, Brugières L, Chompret A, de Paillerets BB, Stoppa-Lyonnet D, Bonaïti-Pellié C, Frébourg T; French LFS working group.

J Med Genet. 2008 Aug;45(8):535-8. doi: 10.1136/jmg.2008.057570. Epub 2008 May 29.

PMID:
18511570
[PubMed - indexed for MEDLINE]
11.

Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.

Lee DS, Yoon SY, Looi LM, Kang P, Kang IN, Sivanandan K, Ariffin H, Thong MK, Chin KF, Mohd Taib NA, Yip CH, Teo SH.

Breast Cancer Res. 2012 Apr 16;14(2):R66.

PMID:
22507745
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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
[PubMed - indexed for MEDLINE]
13.

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.

J Med Genet. 2009 Nov;46(11):766-72. doi: 10.1136/jmg.2009.066704. Epub 2009 Jun 18.

PMID:
19542078
[PubMed - indexed for MEDLINE]
14.

Two TP53 germline mutations in a classical Li-Fraumeni syndrome family.

van Hest LP, Ruijs MW, Wagner A, van der Meer CA, Verhoef S, van't Veer LJ, Meijers-Heijboer H.

Fam Cancer. 2007;6(3):311-6. Epub 2007 Feb 23.

PMID:
17318340
[PubMed - indexed for MEDLINE]
15.

Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations.

Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, Han JH, Lowstuter K, Longmate J, Sommer SS, Weitzel JN.

J Clin Oncol. 2009 Mar 10;27(8):1250-6. doi: 10.1200/JCO.2008.16.6959. Epub 2009 Feb 9.

PMID:
19204208
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
9242456
[PubMed - indexed for MEDLINE]
Free Article
17.

Identification and characterization of two novel germ line p53 mutations in the non-LFS/non-LFL breast cancer families in Chinese population.

Cao AY, Jin W, Shi PC, Di GH, Shen ZZ, Shao ZM.

Breast Cancer Res Treat. 2010 Jan;119(2):295-303. doi: 10.1007/s10549-009-0349-6. Epub 2009 Feb 24.

PMID:
19238535
[PubMed - indexed for MEDLINE]
18.

Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome.

Evans DG, Birch JM, Thorneycroft M, McGown G, Lalloo F, Varley JM.

J Med Genet. 2002 Dec;39(12):941-4. No abstract available.

PMID:
12471212
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families.

Arcand SL, Maugard CM, Ghadirian P, Robidoux A, Perret C, Zhang P, Fafard E, Mes-Masson AM, Foulkes WD, Provencher D, Narod SA, Tonin PN.

Breast Cancer Res Treat. 2008 Apr;108(3):399-408. Epub 2007 May 31.

PMID:
17541742
[PubMed - indexed for MEDLINE]
20.

Relative frequency and morphology of cancers in carriers of germline TP53 mutations.

Birch JM, Alston RD, McNally RJ, Evans DG, Kelsey AM, Harris M, Eden OB, Varley JM.

Oncogene. 2001 Aug 2;20(34):4621-8.

PMID:
11498785
[PubMed - indexed for MEDLINE]
Free Article

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