TOX3 mutations in breast cancer.
TOX3 maps to 16q12, a region commonly lost in breast cancers and recently implicated in the risk of developing breast cancer. However, not much is known of the role of TOX3 itself in breast cancer biology. This is the first study to determine the importance of TOX3 mutations in breast cancers. We sc...
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2013-01-01
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| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0074102 |
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| _version_ | 1849331793969283072 |
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| author | James Owain Jones Suet-Feung Chin Li-An Wong-Taylor Donna Leaford Bruce A J Ponder Carlos Caldas Ana-Teresa Maia |
| author_facet | James Owain Jones Suet-Feung Chin Li-An Wong-Taylor Donna Leaford Bruce A J Ponder Carlos Caldas Ana-Teresa Maia |
| author_sort | James Owain Jones |
| collection | DOAJ |
| description | TOX3 maps to 16q12, a region commonly lost in breast cancers and recently implicated in the risk of developing breast cancer. However, not much is known of the role of TOX3 itself in breast cancer biology. This is the first study to determine the importance of TOX3 mutations in breast cancers. We screened TOX3 for mutations in 133 breast tumours and identified four mutations (three missense, one in-frame deletion of 30 base pairs) in six primary tumours, corresponding to an overall mutation frequency of 4.5%. One potentially deleterious missense mutation in exon 3 (Leu129Phe) was identified in one tumour (genomic DNA and cDNA). Whilst copy number changes of 16q12 are common in breast cancer, our data show that mutations of TOX3 are present at low frequency in tumours. Our results support that TOX3 should be further investigated to elucidate its role in breast cancer biology. |
| format | Article |
| id | doaj-art-1284b278cd2c4711bdecab4cf6b7f763 |
| institution | Kabale University |
| issn | 1932-6203 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj-art-1284b278cd2c4711bdecab4cf6b7f7632025-08-20T03:46:24ZengPublic Library of Science (PLoS)PLoS ONE1932-62032013-01-0189e7410210.1371/journal.pone.0074102TOX3 mutations in breast cancer.James Owain JonesSuet-Feung ChinLi-An Wong-TaylorDonna LeafordBruce A J PonderCarlos CaldasAna-Teresa MaiaTOX3 maps to 16q12, a region commonly lost in breast cancers and recently implicated in the risk of developing breast cancer. However, not much is known of the role of TOX3 itself in breast cancer biology. This is the first study to determine the importance of TOX3 mutations in breast cancers. We screened TOX3 for mutations in 133 breast tumours and identified four mutations (three missense, one in-frame deletion of 30 base pairs) in six primary tumours, corresponding to an overall mutation frequency of 4.5%. One potentially deleterious missense mutation in exon 3 (Leu129Phe) was identified in one tumour (genomic DNA and cDNA). Whilst copy number changes of 16q12 are common in breast cancer, our data show that mutations of TOX3 are present at low frequency in tumours. Our results support that TOX3 should be further investigated to elucidate its role in breast cancer biology.https://doi.org/10.1371/journal.pone.0074102 |
| spellingShingle | James Owain Jones Suet-Feung Chin Li-An Wong-Taylor Donna Leaford Bruce A J Ponder Carlos Caldas Ana-Teresa Maia TOX3 mutations in breast cancer. PLoS ONE |
| title | TOX3 mutations in breast cancer. |
| title_full | TOX3 mutations in breast cancer. |
| title_fullStr | TOX3 mutations in breast cancer. |
| title_full_unstemmed | TOX3 mutations in breast cancer. |
| title_short | TOX3 mutations in breast cancer. |
| title_sort | tox3 mutations in breast cancer |
| url | https://doi.org/10.1371/journal.pone.0074102 |
| work_keys_str_mv | AT jamesowainjones tox3mutationsinbreastcancer AT suetfeungchin tox3mutationsinbreastcancer AT lianwongtaylor tox3mutationsinbreastcancer AT donnaleaford tox3mutationsinbreastcancer AT bruceajponder tox3mutationsinbreastcancer AT carloscaldas tox3mutationsinbreastcancer AT anateresamaia tox3mutationsinbreastcancer |