Familial Adenomatous Polyposis with Atypical Clinical Morphology and Genetic Variants
Familial adenomatous polyposis (FAP) is caused by pathogenic variants of the APC gene on the long arm of chromosome 5. An analysis showed an association between germline APC gene variants and clinical signs of FAP; however, attenuated FAP has also been reported in cases with pathogenic variants. In contrast, a phenotype of FAP with no APC germline pathogenic variant and with few signs has been reported. We herein report a 16-year-old girl in whom the presence of multiple large bowel cancers from a young age and several small bowel cancers reflected a carcinogenic tendency higher than that typical for FAP.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:63 |
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| Enthalten in: |
Internal medicine (Tokyo, Japan) - 63(2024), 8 vom: 15. Apr., Seite 1075-1079 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Komeda, Yoriaki [VerfasserIn] |
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| Links: |
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| Themen: |
APC gene |
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| Anmerkungen: |
Date Completed 16.04.2024 Date Revised 16.04.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.2169/internalmedicine.2050-23 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM360580769 |
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| 520 | |a Familial adenomatous polyposis (FAP) is caused by pathogenic variants of the APC gene on the long arm of chromosome 5. An analysis showed an association between germline APC gene variants and clinical signs of FAP; however, attenuated FAP has also been reported in cases with pathogenic variants. In contrast, a phenotype of FAP with no APC germline pathogenic variant and with few signs has been reported. We herein report a 16-year-old girl in whom the presence of multiple large bowel cancers from a young age and several small bowel cancers reflected a carcinogenic tendency higher than that typical for FAP | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
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| 650 | 4 | |a duodenal adenoma | |
| 650 | 4 | |a duodenal papillary cancer | |
| 650 | 4 | |a familial adenomatous polyposis | |
| 650 | 4 | |a large bowel cancer | |
| 650 | 4 | |a small bowel cancer | |
| 700 | 1 | |a Ishikawa, Hideki |e verfasserin |4 aut | |
| 700 | 1 | |a Yoshida, Teruhiko |e verfasserin |4 aut | |
| 700 | 1 | |a Ushiama, Mineko |e verfasserin |4 aut | |
| 700 | 1 | |a Yoshida, Saki |e verfasserin |4 aut | |
| 700 | 1 | |a Nomura, Kenji |e verfasserin |4 aut | |
| 700 | 1 | |a Kono, Masashi |e verfasserin |4 aut | |
| 700 | 1 | |a Omoto, Shunsuke |e verfasserin |4 aut | |
| 700 | 1 | |a Takenaka, Mamoru |e verfasserin |4 aut | |
| 700 | 1 | |a Hagiwara, Satoru |e verfasserin |4 aut | |
| 700 | 1 | |a Kashida, Hiroshi |e verfasserin |4 aut | |
| 700 | 1 | |a Kudo, Masatoshi |e verfasserin |4 aut | |
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