Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil.
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 child...
Guardado en:
| Autores principales: | , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Public Library of Science (PLoS)
2014
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/ca12984e489e477ea53db1889f243b09 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:ca12984e489e477ea53db1889f243b09 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:ca12984e489e477ea53db1889f243b092021-11-18T08:15:26ZPrevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil.1932-620310.1371/journal.pone.0099893https://doaj.org/article/ca12984e489e477ea53db1889f243b092014-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24936644/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Germline 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.Juliana GiacomazziMarcia S GraudenzCynthia A B T OsorioPatricia Koehler-SantosEdenir I PalmeroMarcelo Zagonel-OliveiraRodrigo A D MichelliCristovam Scapulatempo NetoGabriela C FernandesMaria Isabel W S AchatzGhyslaine Martel-PlancheFernando A SoaresFernando A SoaresMaira CaleffiJosé Roberto GoldimPierre HainautSuzi A CameyPatricia Ashton-ProllaPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 6, p e99893 (2014) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q Juliana Giacomazzi Marcia S Graudenz Cynthia A B T Osorio Patricia Koehler-Santos Edenir I Palmero Marcelo Zagonel-Oliveira Rodrigo A D Michelli Cristovam Scapulatempo Neto Gabriela C Fernandes Maria Isabel W S Achatz Ghyslaine Martel-Planche Fernando A Soares Fernando A Soares Maira Caleffi José Roberto Goldim Pierre Hainaut Suzi A Camey Patricia Ashton-Prolla Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil. |
| 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. |
| format |
article |
| author |
Juliana Giacomazzi Marcia S Graudenz Cynthia A B T Osorio Patricia Koehler-Santos Edenir I Palmero Marcelo Zagonel-Oliveira Rodrigo A D Michelli Cristovam Scapulatempo Neto Gabriela C Fernandes Maria Isabel W S Achatz Ghyslaine Martel-Planche Fernando A Soares Fernando A Soares Maira Caleffi José Roberto Goldim Pierre Hainaut Suzi A Camey Patricia Ashton-Prolla |
| author_facet |
Juliana Giacomazzi Marcia S Graudenz Cynthia A B T Osorio Patricia Koehler-Santos Edenir I Palmero Marcelo Zagonel-Oliveira Rodrigo A D Michelli Cristovam Scapulatempo Neto Gabriela C Fernandes Maria Isabel W S Achatz Ghyslaine Martel-Planche Fernando A Soares Fernando A Soares Maira Caleffi José Roberto Goldim Pierre Hainaut Suzi A Camey Patricia Ashton-Prolla |
| author_sort |
Juliana Giacomazzi |
| title |
Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil. |
| 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. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2014 |
| url |
https://doaj.org/article/ca12984e489e477ea53db1889f243b09 |
| work_keys_str_mv |
AT julianagiacomazzi prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil AT marciasgraudenz prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil AT cynthiaabtosorio prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil AT patriciakoehlersantos prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil AT edeniripalmero prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil AT marcelozagoneloliveira prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil AT rodrigoadmichelli prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil AT cristovamscapulatemponeto prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil AT gabrielacfernandes prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil AT mariaisabelwsachatz prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil AT ghyslainemartelplanche prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil AT fernandoasoares prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil AT fernandoasoares prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil AT mairacaleffi prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil AT joserobertogoldim prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil AT pierrehainaut prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil AT suziacamey prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil AT patriciaashtonprolla prevalenceofthetp53pr337hmutationinbreastcancerpatientsinbrazil |
| _version_ |
1718422011975303168 |