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dc.provenanceCONICET-
dc.creatorAceto, Gitana Maria-
dc.creatorSolano, Angela Rosario-
dc.creatorNeuman, Maria Isabel-
dc.creatorVeschi, Serena-
dc.creatorMorgano, Annalisa-
dc.creatorMalatesta, Sara-
dc.creatorChacon, Reinaldo Daniel-
dc.creatorPupareli, Carmen-
dc.creatorLombardi, Mercedes-
dc.creatorBattista, Pasquale-
dc.creatorMarchetti, Antonio-
dc.creatorMariani Costantini, Renato-
dc.creatorPodesta, Ernesto Jorge-
dc.date2019-01-18T17:55:23Z-
dc.date2019-01-18T17:55:23Z-
dc.date2010-08-
dc.date2019-01-07T13:56:31Z-
dc.date.accessioned2019-04-29T15:30:40Z-
dc.date.available2019-04-29T15:30:40Z-
dc.date.issued2010-08-
dc.identifierAceto, Gitana Maria; Solano, Angela Rosario; Neuman, Maria Isabel; Veschi, Serena; Morgano, Annalisa; et al.; High-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancer; Springer; Breast Cancer Research and Treatment; 122; 3; 8-2010; 671-683-
dc.identifier0167-6806-
dc.identifierhttp://hdl.handle.net/11336/68258-
dc.identifier1573-7217-
dc.identifierCONICET Digital-
dc.identifierCONICET-
dc.identifier.urihttp://rodna.bn.gov.ar:8080/jspui/handle/bnmm/295434-
dc.descriptionJuvenile breast cancer is rare and poorly known. We studied a series of five breast cancer patients diagnosed within 25 years of age that included two adolescents, 12- and 15-years-old, and 3 young women, 21-, 21-, and 25-years-old, respectively. All cases were scanned for germline mutations along the entire BRCA1/2 coding sequences and TP53 exons 4-10, using protein truncation test, denaturing high performance liquid chromatography and direct sequencing. Paraffin-embedded primary tumors (available for 4/5 cases), and a distant metastasis (from the 15-years-old) were characterized for histological and molecular tumor subtype, human papilloma virus (HPV) types 16/18 E6 sequences and tumor-associated mutations in TP53 exons 5-8. A BRCA2 germline mutation (p.Ile2490Thr), previously reported in breast cancer and, as compound heterozygote, in Fanconi anemia, was identified in the 21-year-old patient diagnosed after pregnancy, negative for cancer family history. The tumor was not available for study. Only germline polymorphisms in BRCA1/2 and/or TP53 were detected in the other cases. The tumors of the 15- and 12-years-old were, respectively, classified as glycogen-rich carcinoma with triple negative subtype and as secretory carcinoma with basal subtype. The tumors of the 25-year-old and of the other 21-year-old were, respectively, diagnosed as infiltrating ductal carcinoma with luminal A subtype and as lobular carcinoma with luminal B subtype. No somatic TP53 mutations were found, but tumor-associated HPV 16 E6 sequences were retrieved from the 12- and 25-year-old, while both HPV 16 and HPV 18 E6 sequences were found in the tumor of the 15-year-old and in its associated metastasis. Blood from the 15- and 25-year-old, diagnosed with high-stage disease, resulted positive for HPV 16 E6. All the HPV-positive cases were homozygous for arginine at TP53 codon 72, a genotype associated with HPV-related cancer risk, and the tumors showed p16(INK4A) immunostaining, a marker of HPV-associated cancers. Notably menarche at 11 years was reported for the two adolescents, while the 25-year-old was diagnosed after pregnancy and breast-feeding. Our data suggest that high-risk HPV infection is involved in a subset of histopathologically heterogeneous juvenile breast carcinomas associated with menarche or pregnancy and breast-feeding. Furthermore we implicate BRCA2 in a juvenile breast carcinoma diagnosed at 21 years of age, 4 years after an early full-term pregnancy, in absence of cancer family history.-
dc.descriptionFil: Aceto, Gitana Maria. University of G. D'annunzio Chieti And Pescara; Italia-
dc.descriptionFil: Solano, Angela Rosario. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Bioquímica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina-
dc.descriptionFil: Neuman, Maria Isabel. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Bioquímica; Argentina-
dc.descriptionFil: Veschi, Serena. University of G. D'annunzio Chieti And Pescara; Italia-
dc.descriptionFil: Morgano, Annalisa. University of G. D'annunzio Chieti And Pescara; Italia-
dc.descriptionFil: Malatesta, Sara. University of G. D'annunzio Chieti And Pescara; Italia-
dc.descriptionFil: Chacon, Reinaldo Daniel. Instituto Alexander Fleming; Argentina-
dc.descriptionFil: Pupareli, Carmen. Instituto Alexander Fleming; Argentina-
dc.descriptionFil: Lombardi, Mercedes. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina-
dc.descriptionFil: Battista, Pasquale. University of G. D'annunzio Chieti And Pescara; Italia-
dc.descriptionFil: Marchetti, Antonio. University of G. D'annunzio Chieti And Pescara; Italia-
dc.descriptionFil: Mariani Costantini, Renato. University of G. D'annunzio Chieti And Pescara; Italia-
dc.descriptionFil: Podesta, Ernesto Jorge. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Bioquímica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina-
dc.formatapplication/pdf-
dc.formatapplication/pdf-
dc.formatapplication/pdf-
dc.languageeng-
dc.publisherSpringer-
dc.relationinfo:eu-repo/semantics/altIdentifier/url/https://link.springer.com/article/10.1007%2Fs10549-009-0596-6-
dc.relationinfo:eu-repo/semantics/altIdentifier/doi/https://doi.org/10.1007/s10549-009-0596-6-
dc.rightsinfo:eu-repo/semantics/restrictedAccess-
dc.rightshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/-
dc.sourcereponame:CONICET Digital (CONICET)-
dc.sourceinstname:Consejo Nacional de Investigaciones Científicas y Técnicas-
dc.sourceinstacron:CONICET-
dc.source.urihttp://hdl.handle.net/11336/68258-
dc.subjectBRCA1-
dc.subjectBRCA2-
dc.subjectHUMAN PAPILLOMA VIRUS-
dc.subjectJUVENILE BREAST CANCER-
dc.subjectMUTATION-
dc.subjectREPRODUCTIVE FACTORS-
dc.subjectTP53-
dc.subjectMedicina Critica y de Emergencia-
dc.subjectMedicina Clínica-
dc.subjectCIENCIAS MÉDICAS Y DE LA SALUD-
dc.titleHigh-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancer-
dc.typeinfo:eu-repo/semantics/article-
dc.typeinfo:eu-repo/semantics/publishedVersion-
dc.typeinfo:ar-repo/semantics/articulo-
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