Therapeutic landscape in mutational triple negative breast cancer
Abstract Triple negative breast cancer (TNBC) is a heterogeneous disease with aggressive behavior and poor prognosis. Genomic sequencing has detected a distinctive mutational portrait of both the germline and somatic alterations in TNBC, which is staggeringly different from other breast cancer subty...
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Format: | Article |
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BMC
2018-07-01
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Series: | Molecular Cancer |
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Online Access: | http://link.springer.com/article/10.1186/s12943-018-0850-9 |
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author | Yaqin Shi Juan Jin Wenfei Ji Xiaoxiang Guan |
author_facet | Yaqin Shi Juan Jin Wenfei Ji Xiaoxiang Guan |
author_sort | Yaqin Shi |
collection | DOAJ |
description | Abstract Triple negative breast cancer (TNBC) is a heterogeneous disease with aggressive behavior and poor prognosis. Genomic sequencing has detected a distinctive mutational portrait of both the germline and somatic alterations in TNBC, which is staggeringly different from other breast cancer subtypes. The clinical utility of sequencing germline BRCA1/2 genes has been well established in TNBC. However, for other predisposition genes, studies concerning the risk and penetrance to TNBC are relatively scarce. Very few recurrent mutations, including TP53 and PI3KCA mutations, together with a long tail of individually rare mutations occur in TNBC. These combined effects of genomic alterations drive TNBC progression. Given the complexity and heterogeneity of TNBC, clinical interpretation of the genomic alterations in TNBC may pave a new way for the treatment of TNBC. In this review, we summarized the germline and somatic mutation profiles of TNBC and discussed the current and upcoming therapeutic strategies targeting the mutant proteins or pathways to enable tailored-therapeutics. |
first_indexed | 2024-12-13T08:08:50Z |
format | Article |
id | doaj.art-63f1bf7e132a42c49185fb06ed261484 |
institution | Directory Open Access Journal |
issn | 1476-4598 |
language | English |
last_indexed | 2024-12-13T08:08:50Z |
publishDate | 2018-07-01 |
publisher | BMC |
record_format | Article |
series | Molecular Cancer |
spelling | doaj.art-63f1bf7e132a42c49185fb06ed2614842022-12-21T23:54:15ZengBMCMolecular Cancer1476-45982018-07-0117111110.1186/s12943-018-0850-9Therapeutic landscape in mutational triple negative breast cancerYaqin Shi0Juan Jin1Wenfei Ji2Xiaoxiang Guan3Department of Medical Oncology, Jinling Hospital, Medical School of Nanjing UniversityDepartment of Medical Oncology, Jinling Hospital, Medical School of Nanjing UniversityDepartment of Medical Oncology, Jinling Clinical College, Nanjing Medical UniversityDepartment of Medical Oncology, Jinling Hospital, Medical School of Nanjing UniversityAbstract Triple negative breast cancer (TNBC) is a heterogeneous disease with aggressive behavior and poor prognosis. Genomic sequencing has detected a distinctive mutational portrait of both the germline and somatic alterations in TNBC, which is staggeringly different from other breast cancer subtypes. The clinical utility of sequencing germline BRCA1/2 genes has been well established in TNBC. However, for other predisposition genes, studies concerning the risk and penetrance to TNBC are relatively scarce. Very few recurrent mutations, including TP53 and PI3KCA mutations, together with a long tail of individually rare mutations occur in TNBC. These combined effects of genomic alterations drive TNBC progression. Given the complexity and heterogeneity of TNBC, clinical interpretation of the genomic alterations in TNBC may pave a new way for the treatment of TNBC. In this review, we summarized the germline and somatic mutation profiles of TNBC and discussed the current and upcoming therapeutic strategies targeting the mutant proteins or pathways to enable tailored-therapeutics.http://link.springer.com/article/10.1186/s12943-018-0850-9SomaticGermlineMutationTherapeuticTNBC |
spellingShingle | Yaqin Shi Juan Jin Wenfei Ji Xiaoxiang Guan Therapeutic landscape in mutational triple negative breast cancer Molecular Cancer Somatic Germline Mutation Therapeutic TNBC |
title | Therapeutic landscape in mutational triple negative breast cancer |
title_full | Therapeutic landscape in mutational triple negative breast cancer |
title_fullStr | Therapeutic landscape in mutational triple negative breast cancer |
title_full_unstemmed | Therapeutic landscape in mutational triple negative breast cancer |
title_short | Therapeutic landscape in mutational triple negative breast cancer |
title_sort | therapeutic landscape in mutational triple negative breast cancer |
topic | Somatic Germline Mutation Therapeutic TNBC |
url | http://link.springer.com/article/10.1186/s12943-018-0850-9 |
work_keys_str_mv | AT yaqinshi therapeuticlandscapeinmutationaltriplenegativebreastcancer AT juanjin therapeuticlandscapeinmutationaltriplenegativebreastcancer AT wenfeiji therapeuticlandscapeinmutationaltriplenegativebreastcancer AT xiaoxiangguan therapeuticlandscapeinmutationaltriplenegativebreastcancer |