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Clinicopathological characteristics and mutational landscape of APC, HOXB13, and KRAS among Rwandan patients with colorectal cancer
http://hdl.handle.net/10271/0002000201
http://hdl.handle.net/10271/00020002018279a75b-008e-4ba8-9971-32f48841467d
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
論文本文 (587 KB)
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| Item type | 学位論文 / Thesis or Dissertation(1) | |||||||||
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| 公開日 | 2024-09-04 | |||||||||
| タイトル | ||||||||||
| タイトル | Clinicopathological characteristics and mutational landscape of APC, HOXB13, and KRAS among Rwandan patients with colorectal cancer | |||||||||
| 言語 | en | |||||||||
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| 言語 | eng | |||||||||
| キーワード | ||||||||||
| 主題 | colorectal cancer | |||||||||
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| 主題 | genetics | |||||||||
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| 主題 | APC | |||||||||
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| 主題 | KRAS | |||||||||
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| 主題 | HOXB13 | |||||||||
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| 主題 | mutation | |||||||||
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| 主題 | polyposis syndrome | |||||||||
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| 主題 | African | |||||||||
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| 主題 | Rwanda | |||||||||
| 資源タイプ | ||||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||||||
| 資源タイプ | doctoral thesis | |||||||||
| アクセス権 | ||||||||||
| アクセス権 | open access | |||||||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||||||
| その他のタイトル | ||||||||||
| その他のタイトル | ルワンダの大腸癌患者における臨床病理学的特徴とAPC、HOXB13、およびKRAS遺伝子の変異ランドスケープ | |||||||||
| 著者 |
Manirakiza, Felix
× Manirakiza, Felix
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| 書誌情報 |
en : Current Issues in Molecular Biology 巻 45, 号 5, p. 4359-4374, 発行日 2023-05-16 |
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| 出版者 | ||||||||||
| 出版者 | MDPI | |||||||||
| 言語 | en | |||||||||
| 権利 | ||||||||||
| 言語 | en | |||||||||
| 権利情報 | (C) 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). | |||||||||
| 抄録 | ||||||||||
| 内容記述タイプ | Abstract | |||||||||
| 内容記述 | Cancer research in Rwanda is estimated to be less than 1% of the total African cancer research output with limited research on colorectal cancer (CRC). Rwandan patients with CRC are young, with more females being affected than males, and most patients present with advanced disease. Considering the paucity of oncological genetic studies in this population, we investigated the mutational status of CRC tissues, focusing on the Adenomatous polyposis coli (APC), Kirsten rat sarcoma (KRAS), and Homeobox B13 (HOXB13) genes. Our aim was to determine whether there were any differences between Rwandan patients and other populations. To do so, we performed Sanger sequencing of the DNA extracted from formalin-fixed paraffin-embedded adenocarcinoma samples from 54 patients (mean age: 60 years). Most tumors were located in the rectum (83.3%), and 92.6% of the tumors were low-grade. Most patients (70.4%) reported never smoking, and 61.1% of patients had consumed alcohol. We identified 27 variants of APC, including 3 novel mutations (c.4310_4319delAAACACCTCC, c.4463_4470delinsA, and c.4506_4507delT). All three novel mutations are classified as deleterious by MutationTaster2021. We found four synonymous variants (c.330C>A, c.366C>T, c.513T>C, and c.735G>A) of HOXB13. For KRAS, we found six variants (Asp173, Gly13Asp, Gly12Ala, Gly12Asp, Gly12Val, and Gln61His), the last four of which are pathogenic. In conclusion, here we contribute new genetic variation data and provide clinicopathological pertinent to CRC in Rwanda. | |||||||||
| 言語 | en | |||||||||
| 学位名 | ||||||||||
| 学位名 | 博士（医学） | |||||||||
| 学位の区分 | ||||||||||
| 内容記述 | doctoral | |||||||||
| 学位の分野 | ||||||||||
| 内容記述 | 医学系研究科 | |||||||||
| 学位授与機関 | ||||||||||
| 学位授与機関識別子Scheme | kakenhi | |||||||||
| 学位授与機関識別子 | 13802 | |||||||||
| 学位授与機関名 | 浜松医科大学 | |||||||||
| 学位授与年月日 | ||||||||||
| 学位授与年月日 | 2023-09-22 | |||||||||
| 学位授与番号 | ||||||||||
| 学位授与番号 | 甲第955号 | |||||||||
| EISSN | ||||||||||
| 収録物識別子タイプ | PISSN | |||||||||
| 収録物識別子 | 1467-3045 | |||||||||
| PubMed番号 | ||||||||||
| 関連タイプ | isIdenticalTo | |||||||||
| 識別子タイプ | PMID | |||||||||
| 関連識別子 | 37232746 | |||||||||
| 出版社DOI | ||||||||||
| 関連タイプ | isIdenticalTo | |||||||||
| 識別子タイプ | DOI | |||||||||
| 関連識別子 | https://doi.org/10.3390/cimb45050277 | |||||||||
| 著者版フラグ | ||||||||||
| 出版タイプ | VoR | |||||||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||||||
