Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/194038 |
Resumo: | Germline TP53 mutations predispose individuals to multiple cancers and are associated with Li-Fraumeni/Li-Fraumeni-Like Syndromes (LFS/LFL). The founder mutation TP53 p.R337H is detected in 0.3% of the general population in southern Brazil. This mutation is associated with an increased risk of childhood adrenal cortical carcinoma (ACC) but is also common in Brazilian LFS/LFL families. Breast Cancer (BC) is one of the most common cancers diagnosed in TP53 mutation carriers. We have assessed the prevalence of p.R337H in two groups: (1) 59 BC affected women with a familial history (FH) suggestive of hereditary cancer syndrome but no LFS/LFL features; (2) 815 BC affected women unselected for cancer FH, diagnosed with BC at or before age 45 or at age 55 or older. Among group 1 and group 2 patients, 2/59 (3.4%, CI95%: 0.4%–11.7%) and 70/ 815 (8.6%, CI95%: 6.8%–10.7%), respectively, were p.R337H carriers in the germline. The prevalence of p.R337H was higher in women diagnosed with BC at or before age 45 (12.1%, CI95%: 9.1%–15.8%) than at age 55 or older (5.1%, CI95%: 3.2%– 7.7%), p,0.001). The Brazilian founder p.R337H haplotype was detected in all carriers analysed. These results suggest that inheritance of p.R337H may significantly contribute to the high incidence of BC in Brazil, in addition to its recently demonstrated impact on the risk of childhood ACC. |
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Giacomazzi, JulianaGraudenz, Márcia SilveiraOsório, Cynthia Aparecida Bueno de ToledoSantos, Patrícia Koehler dosPalmero, Edenir InêzOliveira, Marcelo Zagonel deMichelli, Rodrigo Augusto DepieriScapulatempo Neto, CristovamFernandes, Gabriela de CarvalhoAchatz, Maria Isabel Alves de Souza WaddingtonMartel-Planche, GhyslaineSoares, Fernando A.Caleffi, MairaGoldim, José RobertoHainaut, PierreCamey, Suzi AlvesProlla, Patrícia Ashton2019-05-09T02:37:20Z20141932-6203http://hdl.handle.net/10183/194038000970293Germline TP53 mutations predispose individuals to multiple cancers and are associated with Li-Fraumeni/Li-Fraumeni-Like Syndromes (LFS/LFL). The founder mutation TP53 p.R337H is detected in 0.3% of the general population in southern Brazil. This mutation is associated with an increased risk of childhood adrenal cortical carcinoma (ACC) but is also common in Brazilian LFS/LFL families. Breast Cancer (BC) is one of the most common cancers diagnosed in TP53 mutation carriers. We have assessed the prevalence of p.R337H in two groups: (1) 59 BC affected women with a familial history (FH) suggestive of hereditary cancer syndrome but no LFS/LFL features; (2) 815 BC affected women unselected for cancer FH, diagnosed with BC at or before age 45 or at age 55 or older. Among group 1 and group 2 patients, 2/59 (3.4%, CI95%: 0.4%–11.7%) and 70/ 815 (8.6%, CI95%: 6.8%–10.7%), respectively, were p.R337H carriers in the germline. The prevalence of p.R337H was higher in women diagnosed with BC at or before age 45 (12.1%, CI95%: 9.1%–15.8%) than at age 55 or older (5.1%, CI95%: 3.2%– 7.7%), p,0.001). The Brazilian founder p.R337H haplotype was detected in all carriers analysed. These results suggest that inheritance of p.R337H may significantly contribute to the high incidence of BC in Brazil, in addition to its recently demonstrated impact on the risk of childhood ACC.application/pdfengPLoS ONE. San Francisco. Vol. 9, no. 6 (June 2014), e99893, 7 p.Genes p53Neoplasias da mamaMutaçãoPrevalence of the TP53 p.R337H mutation in breast cancer patients in BrazilEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT000970293.pdf.txt000970293.pdf.txtExtracted Texttext/plain35707http://www.lume.ufrgs.br/bitstream/10183/194038/2/000970293.pdf.txtf9898b8f389cc3a2810f808d405c83b2MD52ORIGINAL000970293.pdfTexto completo (inglês)application/pdf688642http://www.lume.ufrgs.br/bitstream/10183/194038/1/000970293.pdf4ff90f8d3272a12c68168e66eea16f32MD5110183/1940382023-09-23 03:36:16.623956oai:www.lume.ufrgs.br:10183/194038Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2023-09-23T06:36:16Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil |
title |
Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil |
spellingShingle |
Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil Giacomazzi, Juliana Genes p53 Neoplasias da mama Mutação |
title_short |
Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil |
title_full |
Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil |
title_fullStr |
Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil |
title_full_unstemmed |
Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil |
title_sort |
Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil |
author |
Giacomazzi, Juliana |
author_facet |
Giacomazzi, Juliana Graudenz, Márcia Silveira Osório, Cynthia Aparecida Bueno de Toledo Santos, Patrícia Koehler dos Palmero, Edenir Inêz Oliveira, Marcelo Zagonel de Michelli, Rodrigo Augusto Depieri Scapulatempo Neto, Cristovam Fernandes, Gabriela de Carvalho Achatz, Maria Isabel Alves de Souza Waddington Martel-Planche, Ghyslaine Soares, Fernando A. Caleffi, Maira Goldim, José Roberto Hainaut, Pierre Camey, Suzi Alves Prolla, Patrícia Ashton |
author_role |
author |
author2 |
Graudenz, Márcia Silveira Osório, Cynthia Aparecida Bueno de Toledo Santos, Patrícia Koehler dos Palmero, Edenir Inêz Oliveira, Marcelo Zagonel de Michelli, Rodrigo Augusto Depieri Scapulatempo Neto, Cristovam Fernandes, Gabriela de Carvalho Achatz, Maria Isabel Alves de Souza Waddington Martel-Planche, Ghyslaine Soares, Fernando A. Caleffi, Maira Goldim, José Roberto Hainaut, Pierre Camey, Suzi Alves Prolla, Patrícia Ashton |
author2_role |
author author author author author author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Giacomazzi, Juliana Graudenz, Márcia Silveira Osório, Cynthia Aparecida Bueno de Toledo Santos, Patrícia Koehler dos Palmero, Edenir Inêz Oliveira, Marcelo Zagonel de Michelli, Rodrigo Augusto Depieri Scapulatempo Neto, Cristovam Fernandes, Gabriela de Carvalho Achatz, Maria Isabel Alves de Souza Waddington Martel-Planche, Ghyslaine Soares, Fernando A. Caleffi, Maira Goldim, José Roberto Hainaut, Pierre Camey, Suzi Alves Prolla, Patrícia Ashton |
dc.subject.por.fl_str_mv |
Genes p53 Neoplasias da mama Mutação |
topic |
Genes p53 Neoplasias da mama Mutação |
description |
Germline TP53 mutations predispose individuals to multiple cancers and are associated with Li-Fraumeni/Li-Fraumeni-Like Syndromes (LFS/LFL). The founder mutation TP53 p.R337H is detected in 0.3% of the general population in southern Brazil. This mutation is associated with an increased risk of childhood adrenal cortical carcinoma (ACC) but is also common in Brazilian LFS/LFL families. Breast Cancer (BC) is one of the most common cancers diagnosed in TP53 mutation carriers. We have assessed the prevalence of p.R337H in two groups: (1) 59 BC affected women with a familial history (FH) suggestive of hereditary cancer syndrome but no LFS/LFL features; (2) 815 BC affected women unselected for cancer FH, diagnosed with BC at or before age 45 or at age 55 or older. Among group 1 and group 2 patients, 2/59 (3.4%, CI95%: 0.4%–11.7%) and 70/ 815 (8.6%, CI95%: 6.8%–10.7%), respectively, were p.R337H carriers in the germline. The prevalence of p.R337H was higher in women diagnosed with BC at or before age 45 (12.1%, CI95%: 9.1%–15.8%) than at age 55 or older (5.1%, CI95%: 3.2%– 7.7%), p,0.001). The Brazilian founder p.R337H haplotype was detected in all carriers analysed. These results suggest that inheritance of p.R337H may significantly contribute to the high incidence of BC in Brazil, in addition to its recently demonstrated impact on the risk of childhood ACC. |
publishDate |
2014 |
dc.date.issued.fl_str_mv |
2014 |
dc.date.accessioned.fl_str_mv |
2019-05-09T02:37:20Z |
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1932-6203 |
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000970293 |
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http://hdl.handle.net/10183/194038 |
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PLoS ONE. San Francisco. Vol. 9, no. 6 (June 2014), e99893, 7 p. |
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