High-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancer
- Autores
- Aceto, Gitana Maria; Solano, Angela Rosario; Neuman, Maria Isabel; Veschi, Serena; Morgano, Annalisa; Malatesta, Sara; Chacon, Reinaldo Daniel; Pupareli, Carmen; Lombardi, Mercedes; Battista, Pasquale; Marchetti, Antonio; Mariani Costantini, Renato; Podesta, Ernesto Jorge
- Año de publicación
- 2010
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- Juvenile 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.
Fil: Aceto, Gitana Maria. University of G. D'annunzio Chieti And Pescara; Italia
Fil: Solano, Angela Rosario. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Bioquímica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Neuman, Maria Isabel. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Bioquímica; Argentina
Fil: Veschi, Serena. University of G. D'annunzio Chieti And Pescara; Italia
Fil: Morgano, Annalisa. University of G. D'annunzio Chieti And Pescara; Italia
Fil: Malatesta, Sara. University of G. D'annunzio Chieti And Pescara; Italia
Fil: Chacon, Reinaldo Daniel. Instituto Alexander Fleming; Argentina
Fil: Pupareli, Carmen. Instituto Alexander Fleming; Argentina
Fil: Lombardi, Mercedes. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina
Fil: Battista, Pasquale. University of G. D'annunzio Chieti And Pescara; Italia
Fil: Marchetti, Antonio. University of G. D'annunzio Chieti And Pescara; Italia
Fil: Mariani Costantini, Renato. University of G. D'annunzio Chieti And Pescara; Italia
Fil: Podesta, Ernesto Jorge. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Bioquímica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina - Materia
-
Brca1
Brca2
Human Papilloma Virus
Juvenile Breast Cancer
Mutation
Reproductive Factors
Tp53 - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
.jpg)
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/68258
Ver los metadatos del registro completo
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High-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancerAceto, Gitana MariaSolano, Angela RosarioNeuman, Maria IsabelVeschi, SerenaMorgano, AnnalisaMalatesta, SaraChacon, Reinaldo DanielPupareli, CarmenLombardi, MercedesBattista, PasqualeMarchetti, AntonioMariani Costantini, RenatoPodesta, Ernesto JorgeBrca1Brca2Human Papilloma VirusJuvenile Breast CancerMutationReproductive FactorsTp53https://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Juvenile 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.Fil: Aceto, Gitana Maria. University of G. D'annunzio Chieti And Pescara; ItaliaFil: Solano, Angela Rosario. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Bioquímica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Neuman, Maria Isabel. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Bioquímica; ArgentinaFil: Veschi, Serena. University of G. D'annunzio Chieti And Pescara; ItaliaFil: Morgano, Annalisa. University of G. D'annunzio Chieti And Pescara; ItaliaFil: Malatesta, Sara. University of G. D'annunzio Chieti And Pescara; ItaliaFil: Chacon, Reinaldo Daniel. Instituto Alexander Fleming; ArgentinaFil: Pupareli, Carmen. Instituto Alexander Fleming; ArgentinaFil: Lombardi, Mercedes. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; ArgentinaFil: Battista, Pasquale. University of G. D'annunzio Chieti And Pescara; ItaliaFil: Marchetti, Antonio. University of G. D'annunzio Chieti And Pescara; ItaliaFil: Mariani Costantini, Renato. University of G. D'annunzio Chieti And Pescara; ItaliaFil: Podesta, Ernesto Jorge. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Bioquímica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaSpringer2010-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/68258Aceto, 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; 671-6830167-68061573-7217CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://link.springer.com/article/10.1007%2Fs10549-009-0596-6info:eu-repo/semantics/altIdentifier/doi/10.1007/s10549-009-0596-6info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-10T13:00:08Zoai:ri.conicet.gov.ar:11336/68258instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-10 13:00:08.507CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
| dc.title.none.fl_str_mv |
High-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancer |
| title |
High-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancer |
| spellingShingle |
High-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancer Aceto, Gitana Maria Brca1 Brca2 Human Papilloma Virus Juvenile Breast Cancer Mutation Reproductive Factors Tp53 |
| title_short |
High-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancer |
| title_full |
High-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancer |
| title_fullStr |
High-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancer |
| title_full_unstemmed |
High-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancer |
| title_sort |
High-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancer |
| dc.creator.none.fl_str_mv |
Aceto, Gitana Maria Solano, Angela Rosario Neuman, Maria Isabel Veschi, Serena Morgano, Annalisa Malatesta, Sara Chacon, Reinaldo Daniel Pupareli, Carmen Lombardi, Mercedes Battista, Pasquale Marchetti, Antonio Mariani Costantini, Renato Podesta, Ernesto Jorge |
| author |
Aceto, Gitana Maria |
| author_facet |
Aceto, Gitana Maria Solano, Angela Rosario Neuman, Maria Isabel Veschi, Serena Morgano, Annalisa Malatesta, Sara Chacon, Reinaldo Daniel Pupareli, Carmen Lombardi, Mercedes Battista, Pasquale Marchetti, Antonio Mariani Costantini, Renato Podesta, Ernesto Jorge |
| author_role |
author |
| author2 |
Solano, Angela Rosario Neuman, Maria Isabel Veschi, Serena Morgano, Annalisa Malatesta, Sara Chacon, Reinaldo Daniel Pupareli, Carmen Lombardi, Mercedes Battista, Pasquale Marchetti, Antonio Mariani Costantini, Renato Podesta, Ernesto Jorge |
| author2_role |
author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
Brca1 Brca2 Human Papilloma Virus Juvenile Breast Cancer Mutation Reproductive Factors Tp53 |
| topic |
Brca1 Brca2 Human Papilloma Virus Juvenile Breast Cancer Mutation Reproductive Factors Tp53 |
| purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.2 https://purl.org/becyt/ford/3 |
| dc.description.none.fl_txt_mv |
Juvenile 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. Fil: Aceto, Gitana Maria. University of G. D'annunzio Chieti And Pescara; Italia Fil: Solano, Angela Rosario. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Bioquímica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Neuman, Maria Isabel. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Bioquímica; Argentina Fil: Veschi, Serena. University of G. D'annunzio Chieti And Pescara; Italia Fil: Morgano, Annalisa. University of G. D'annunzio Chieti And Pescara; Italia Fil: Malatesta, Sara. University of G. D'annunzio Chieti And Pescara; Italia Fil: Chacon, Reinaldo Daniel. Instituto Alexander Fleming; Argentina Fil: Pupareli, Carmen. Instituto Alexander Fleming; Argentina Fil: Lombardi, Mercedes. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina Fil: Battista, Pasquale. University of G. D'annunzio Chieti And Pescara; Italia Fil: Marchetti, Antonio. University of G. D'annunzio Chieti And Pescara; Italia Fil: Mariani Costantini, Renato. University of G. D'annunzio Chieti And Pescara; Italia Fil: Podesta, Ernesto Jorge. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Bioquímica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina |
| description |
Juvenile 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. |
| publishDate |
2010 |
| dc.date.none.fl_str_mv |
2010-08 |
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info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
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article |
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publishedVersion |
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http://hdl.handle.net/11336/68258 Aceto, 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 0167-6806 1573-7217 CONICET Digital CONICET |
| url |
http://hdl.handle.net/11336/68258 |
| identifier_str_mv |
Aceto, 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 0167-6806 1573-7217 CONICET Digital CONICET |
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eng |
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eng |
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