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...
| Main Authors: | , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2014-01-01
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| Series: | PLoS ONE |
| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24936644/pdf/?tool=EBI |
| _version_ | 1819319399155236864 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-24T11:03:04Z |
| format | Article |
| id | doaj.art-ca12984e489e477ea53db1889f243b09 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-24T11:03:04Z |
| publishDate | 2014-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-ca12984e489e477ea53db1889f243b092022-12-21T16:58:40ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0196e9989310.1371/journal.pone.0099893Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil.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-ProllaGermline 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.https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24936644/pdf/?tool=EBI |
| spellingShingle | 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. PLoS ONE |
| title | 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_short | 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 |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24936644/pdf/?tool=EBI |
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