| Item type |
文献 / Documents(1) |
| 公開日 |
2024-02-26 |
| アクセス権 |
|
|
アクセス権 |
open access |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 出版社版DOI |
|
|
|
関連識別子 |
https://doi.org/10.1111/cas.15945 |
|
|
関連名称 |
10.1111/cas.15945 |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| タイトル |
|
|
タイトル |
Genotype–phenotype correlation for extracolonic aggressive phenotypes in patients with familial adenomatous polyposis |
| 著者 |
シマモト, ユウサク
タケウチ, ヨウジ
イシグロ, シンゴ
ナカツカ, シンイチ
ユノキザキ, ヒロシ
エゾエ, ヤスマサ
ナカジマ, タケシ
田中, 久美子
イシハラ, リュウ
高山, 哲治
ヨシダ, テルヒコ
スガノ, コウキチ
ムトウ, ミチヒロ
イシカワ, ヒデキ
|
| 抄録 |
|
|
内容記述 |
Familial adenomatous polyposis (FAP) patients develop various life-threatening extracolonic comorbidities that appear individually or within a family. This diversity can be explained by the localization of the adenomatous polyposis coli (APC) variant, but few reports provide definitive findings about genotype–phenotype correlations. Therefore, we investigated FAP patients and the association between the severe phenotypes and APC variants. Of 247 FAP patients, 126 patients from 85 families identified to have APC germline variant sites were extracted. These sites were divided into six groups (Regions A to F), and the frequency of severe comorbidities was compared among the patient phenotypes. Of the 126 patients, the proportions of patients with desmoid tumor stage ≥III, number of FGPs ≥1000, multiple gastric neoplasms, gastric neoplasm with high-grade dysplasia, and Spigelman stage ≥III were 3%, 16%, 21%, 12%, and 41%, respectively, while the corresponding rates were 30%, 50%, 70%, 50%, and 80% in patients with Region E (codons 1398–1580) variants. These latter rates were significantly higher than those for patients with variants in other regions. Moreover, the proportion of patients with all three indicators (desmoid tumor stage ≥III, number of FGPs ≥1000, and Spigelman stage ≥III) was 20% for those with variants in Region E and 0% for those with variants in other regions. Variants in Region E indicate aggressive phenotypes, and more intensive management is required. |
| キーワード |
|
|
主題 |
adenomatous polyposis coli |
| キーワード |
|
|
主題 |
desmoid tumor |
| キーワード |
|
|
主題 |
duodenal neoplasm |
| キーワード |
|
|
主題 |
familial adenomatous polyposis |
| キーワード |
|
|
主題 |
gastric lesion |
| キーワード |
|
|
主題 |
genotype-phenotype correlation |
| 書誌情報 |
en : Cancer Science
巻 114,
号 12,
p. 4596-4606,
発行日 2023-10-05
|
| 収録物ID |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
13497006 |
| 出版者 |
|
|
出版者 |
Japanese Cancer Association |
| 出版者 |
|
|
出版者 |
John Wiley & Sons |
| 権利情報 |
|
|
権利情報 |
This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
| EID |
|
|
識別子 |
403777 |
| 言語 |
|
|
言語 |
eng |
cas_114_12_4596.pdf (1.26 MB)
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