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Items: 1 to 20 of 82

1.

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.

Stacey SN, Sulem P, Jonasdottir A, Masson G, Gudmundsson J, Gudbjartsson DF, Magnusson OT, Gudjonsson SA, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Nexø BA, Tjønneland A, Overvad K, Rudnai P, Gurzau E, Koppova K, Hemminki K, Corredera C, Fuentelsaz V, Grasa P, Navarrete S, Fuertes F, García-Prats MD, Sanambrosio E, Panadero A, De Juan A, Garcia A, Rivera F, Planelles D, Soriano V, Requena C, Aben KK, van Rossum MM, Cremers RG, van Oort IM, van Spronsen DJ, Schalken JA, Peters WH, Helfand BT, Donovan JL, Hamdy FC, Badescu D, Codreanu O, Jinga M, Csiki IE, Constantinescu V, Badea P, Mates IN, Dinu DE, Constantin A, Mates D, Kristjansdottir S, Agnarsson BA, Jonsson E, Barkardottir RB, Einarsson GV, Sigurdsson F, Moller PH, Stefansson T, Valdimarsson T, Johannsson OT, Sigurdsson H, Jonsson T, Jonasson JG, Tryggvadottir L, Rice T, Hansen HM, Xiao Y, Lachance DH, O Neill BP, Kosel ML, Decker PA, Thorleifsson G, Johannsdottir H, Helgadottir HT, Sigurdsson A, Steinthorsdottir V, Lindblom A; Swedish Low-risk Colorectal Cancer Study Group, Sandler RS, Keku TO, Banasik K, Jørgensen T, Witte DR, Hansen T, Pedersen O, Jinga V, Neal DE, Catalona WJ, Wrensch M, Wiencke J, Jenkins RB, Nagore E, Vogel U, Kiemeney LA, Kumar R, Mayordomo JI, Olafsson JH, Kong A, Thorsteinsdottir U, Rafnar T, Stefansson K.

Nat Genet. 2011 Sep 25;43(11):1098-103. doi: 10.1038/ng.926.

2.

Low penetrance susceptibility to glioma is caused by the TP53 variant rs78378222.

Enciso-Mora V, Hosking FJ, Di Stefano AL, Zelenika D, Shete S, Broderick P, Idbaih A, Delattre JY, Hoang-Xuan K, Marie Y, Labussière M, Alentorn A, Ciccarino P, Rossetto M, Armstrong G, Liu Y, Gousias K, Schramm J, Lau C, Hepworth SJ, Schoemaker M, Strauch K, Müller-Nurasyid M, Schreiber S, Franke A, Moebus S, Eisele L, Swerdlow A, Simon M, Bondy M, Lathrop M, Sanson M, Houlston RS.

Br J Cancer. 2013 May 28;108(10):2178-85. doi: 10.1038/bjc.2013.155. Epub 2013 Apr 9.

3.

A functional germline variant in the P53 polyadenylation signal and risk of esophageal squamous cell carcinoma.

Zhou L, Yuan Q, Yang M.

Gene. 2012 Sep 15;506(2):295-7. doi: 10.1016/j.gene.2012.07.007. Epub 2012 Jul 16.

PMID:
22800615
4.

Rare variants in TP53 and susceptibility to neuroblastoma.

Diskin SJ, Capasso M, Diamond M, Oldridge DA, Conkrite K, Bosse KR, Russell MR, Iolascon A, Hakonarson H, Devoto M, Maris JM.

J Natl Cancer Inst. 2014 Apr;106(4):dju047. doi: 10.1093/jnci/dju047. Epub 2014 Mar 14.

5.

Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome.

Macedo GS, Araujo Vieira I, Brandalize AP, Giacomazzi J, Inez Palmero E, Volc S, Rodrigues Paixão-Côrtes V, Caleffi M, Silva Alves M, Achatz MI, Hainaut P, Ashton-Prolla P.

Cancer Genet. 2016 Mar;209(3):97-106. doi: 10.1016/j.cancergen.2015.12.012. Epub 2016 Jan 7.

PMID:
26823150
6.

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.

7.

Further Confirmation of Germline Glioma Risk Variant rs78378222 in TP53 and Its Implication in Tumor Tissues via Integrative Analysis of TCGA Data.

Wang Z, Rajaraman P, Melin BS, Chung CC, Zhang W, McKean-Cowdin R, Michaud D, Yeager M, Ahlbom A, Albanes D, Andersson U, Freeman LE, Buring JE, Butler MA, Carreón T, Feychting M, Gapstur SM, Gaziano JM, Giles GG, Hallmans G, Henriksson R, Hoffman-Bolton J, Inskip PD, Kitahara CM, Marchand LL, Linet MS, Li S, Peters U, Purdue MP, Rothman N, Ruder AM, Sesso HD, Severi G, Stampfer M, Stevens VL, Visvanathan K, Wang SS, White E, Zeleniuch-Jacquotte A, Hoover R, Fraumeni JF, Chatterjee N, Hartge P, Chanock SJ.

Hum Mutat. 2015 Jul;36(7):684-8. doi: 10.1002/humu.22799. Epub 2015 May 18.

8.

Sex-specific effect of the TP53 PIN3 polymorphism on cancer risk in a cohort study of TP53 germline mutation carriers.

Fang S, Krahe R, Bachinski LL, Zhang B, Amos CI, Strong LC.

Hum Genet. 2011 Dec;130(6):789-94. doi: 10.1007/s00439-011-1039-0. Epub 2011 Jun 19.

PMID:
21688173
9.

Prevalence of low-penetrant germline TP53 D49H mutation in Japanese cancer patients.

Yamaguchi K, Urakami K, Nagashima T, Shimoda Y, Ohnami S, Ohnami S, Ohshima K, Mochizuki T, Hatakeyama K, Serizawa M, Akiyama Y, Maruyama K, Katagiri H, Ishida Y, Takahashi K, Nishimura S, Terashima M, Kawamura T, Kinugasa Y, Yamakawa Y, Onitsuka T, Ohde Y, Sugino T, Ito I, Matsubayashi H, Horiuchi Y, Mizuguchi M, Yamazaki M, Inoue K, Wakamatsu K, Sugiyama M, Uesaka K, Kusuhara M.

Biomed Res. 2016;37(4):259-64. doi: 10.2220/biomedres.37.259.

10.

Rare TP53 genetic variant associated with glioma risk and outcome.

Egan KM, Nabors LB, Olson JJ, Monteiro AN, Browning JE, Madden MH, Thompson RC.

J Med Genet. 2012 Jul;49(7):420-1. doi: 10.1136/jmedgenet-2012-100941. Epub 2012 Jun 15.

11.

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
12.

Association of germline or somatic TP53 missense mutation with oncogene amplification in tumors developed in patients with Li-Fraumeni or Li-Fraumeni-like syndrome.

Sugawara W, Arai Y, Kasai F, Fujiwara Y, Haruta M, Hosaka R, Nishida K, Kurosumi M, Kobayashi Y, Akagi K, Kaneko Y.

Genes Chromosomes Cancer. 2011 Jul;50(7):535-45. doi: 10.1002/gcc.20878. Epub 2011 Apr 11.

PMID:
21484931
13.

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.

14.

Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study.

Mouchawar J, Korch C, Byers T, Pitts TM, Li E, McCredie MR, Giles GG, Hopper JL, Southey MC.

Cancer Res. 2010 Jun 15;70(12):4795-800. doi: 10.1158/0008-5472.CAN-09-0851. Epub 2010 May 25.

15.

Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.

Stacey SN, Sulem P, Gudbjartsson DF, Jonasdottir A, Thorleifsson G, Gudjonsson SA, Masson G, Gudmundsson J, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Fuentelsaz V, Corredera C, Grasa M, Planelles D, Sanmartin O, Rudnai P, Gurzau E, Koppova K, Hemminki K, Nexø BA, Tjønneland A, Overvad K, Johannsdottir H, Helgadottir HT, Thorsteinsdottir U, Kong A, Vogel U, Kumar R, Nagore E, Mayordomo JI, Rafnar T, Olafsson JH, Stefansson K.

Hum Mol Genet. 2014 Jun 1;23(11):3045-53. doi: 10.1093/hmg/ddt671. Epub 2014 Jan 8.

16.

Association of miR-502-binding site single nucleotide polymorphism in the 3'-untranslated region of SET8 and TP53 codon 72 polymorphism with non-small cell lung cancer in Chinese population.

Yang S, Guo H, Wei B, Zhu S, Cai Y, Jiang P, Tang J.

Acta Biochim Biophys Sin (Shanghai). 2014 Feb;46(2):149-54. doi: 10.1093/abbs/gmt138. Epub 2013 Dec 26.

PMID:
24374662
17.

Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome.

Palmero EI, Achatz MI, Ashton-Prolla P, Olivier M, Hainaut P.

Curr Opin Oncol. 2010 Jan;22(1):64-9. doi: 10.1097/CCO.0b013e328333bf00. Review.

PMID:
19952748
18.

Germline TP53 mutational spectrum in French Canadians with breast cancer.

Arcand SL, Akbari MR, Mes-Masson AM, Provencher D, Foulkes WD, Narod SA, Tonin PN.

BMC Med Genet. 2015 Apr 12;16:24. doi: 10.1186/s12881-015-0169-y.

19.

Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome.

Chang VY, Federman N, Martinez-Agosto J, Tatishchev SF, Nelson SF.

Pediatr Blood Cancer. 2013 Apr;60(4):570-4. doi: 10.1002/pbc.24316. Epub 2012 Sep 26.

20.

Early onset HER2-positive breast cancer is associated with germline TP53 mutations.

Melhem-Bertrandt A, Bojadzieva J, Ready KJ, Obeid E, Liu DD, Gutierrez-Barrera AM, Litton JK, Olopade OI, Hortobagyi GN, Strong LC, Arun BK.

Cancer. 2012 Feb 15;118(4):908-13. doi: 10.1002/cncr.26377. Epub 2011 Jul 14. Erratum in: Cancer. 2012 May 1;118(9):2561.

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