SET domain containing 1B gene is mutated in primary hepatic neuroendocrine tumors Article Swipe
Penghui Yang
,
Xuanlin Huang
,
Chengcai Lai
,
Lin Li
,
Tieling Li
,
Peide Huang
,
Songying Ouyang
,
Jin Yan
,
Sijie Cheng
,
Guanglin Lei
,
Zhaohai Wang
,
Linxiang Yu
,
Zhixian Hong
,
Ruisheng Li
,
Hui Dong
,
Cheng Wang
,
Yinghao Yu
,
Xuan Wang
,
Xianghong Li
,
Liming Wang
,
Fudong Lv
,
Ye Yin
,
Huanming Yang
,
Jianxun Song
,
Qiang Gao
,
Xiliang Wang
,
Shaogeng Zhang
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1002/ijc.32334
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1002/ijc.32334
Primary hepatic neuroendocrine tumors (PHNETs) are extremely rare NETs originating from the liver. These tumors are associated with heterogeneous prognosis, and few treatment targets for PHNETs have been identified. Because the major genetic alterations in PHNET are still largely unknown, we performed whole‐exome sequencing of 22 paired tissues from PHNET patients and identified 22 recurring mutations of somatic genes involved in the following activities: epigenetic modification ( BPTF , MECP2 and WDR5 ), cell cycle ( TP53 , ATM , MED12 , DIDO1 and ATAD5 ) and neural development ( UBR4 , MEN1 , GLUL and GIGYF2 ). Here, we show that TP53 and the SET domain containing the 1B gene ( SETD1B ) are the most frequently mutated genes in this set of samples (3/22 subjects, 13.6%). A biological analysis suggests that one of the three SETD1B mutants, A1054del, promotes cell proliferation, migration and invasion compared to wild‐type SETD1B . Our work unveils that SETD1B A1054del mutant is functional in PHNET and implicates genes including TP53 in the disease. Our findings thus characterize the mutational landscapes of PHNET and implicate novel gene mutations linked to PHNET pathogenesis and potential therapeutic targets.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/ijc.32334
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijc.32334
- OA Status
- bronze
- Cited By
- 19
- References
- 36
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2939724295
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- OpenAlex ID
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https://openalex.org/W2939724295Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/ijc.32334Digital Object Identifier
- Title
-
SET domain containing 1B gene is mutated in primary hepatic neuroendocrine tumorsWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2019Year of publication
- Publication date
-
2019-04-12Full publication date if available
- Authors
-
Penghui Yang, Xuanlin Huang, Chengcai Lai, Lin Li, Tieling Li, Peide Huang, Songying Ouyang, Jin Yan, Sijie Cheng, Guanglin Lei, Zhaohai Wang, Linxiang Yu, Zhixian Hong, Ruisheng Li, Hui Dong, Cheng Wang, Yinghao Yu, Xuan Wang, Xianghong Li, Liming Wang, Fudong Lv, Ye Yin, Huanming Yang, Jianxun Song, Qiang Gao, Xiliang Wang, Shaogeng ZhangList of authors in order
- Landing page
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https://doi.org/10.1002/ijc.32334Publisher landing page
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-
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijc.32334Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijc.32334Direct OA link when available
- Concepts
-
Neuroendocrine tumors, Gene, Domain (mathematical analysis), Primary (astronomy), Cancer research, Biology, Medicine, Pathology, Internal medicine, Genetics, Physics, Mathematics, Astronomy, Mathematical analysisTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
19Total citation count in OpenAlex
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2025: 1, 2024: 4, 2023: 4, 2022: 2, 2021: 3Per-year citation counts (last 5 years)
- References (count)
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36Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.landscapes | 176 |
| abstract_inverted_index.mutational | 175 |
| abstract_inverted_index.prognosis, | 19 |
| abstract_inverted_index.sequencing | 43 |
| abstract_inverted_index.activities: | 63 |
| abstract_inverted_index.alterations | 33 |
| abstract_inverted_index.development | 88 |
| abstract_inverted_index.identified. | 28 |
| abstract_inverted_index.originating | 9 |
| abstract_inverted_index.therapeutic | 190 |
| abstract_inverted_index.wild‐type | 148 |
| abstract_inverted_index.characterize | 173 |
| abstract_inverted_index.modification | 65 |
| abstract_inverted_index.pathogenesis | 187 |
| abstract_inverted_index.heterogeneous | 18 |
| abstract_inverted_index.whole‐exome | 42 |
| abstract_inverted_index.neuroendocrine | 2 |
| abstract_inverted_index.proliferation, | 142 |
| cited_by_percentile_year.max | 98 |
| cited_by_percentile_year.min | 91 |
| corresponding_author_ids | https://openalex.org/A5101469938, https://openalex.org/A5038288425, https://openalex.org/A5101508571 |
| countries_distinct_count | 3 |
| institutions_distinct_count | 27 |
| corresponding_institution_ids | https://openalex.org/I100135526, https://openalex.org/I4210105491, https://openalex.org/I4210134982 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.6000000238418579 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.83011128 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |