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Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis.
http://hdl.handle.net/10271/2366
http://hdl.handle.net/10271/2366f3aecce0-4388-43c2-8ff5-c43fe6f2eb86
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
BMCResNotes-3-305.pdf (3.3 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||||||||||||||||||||||||
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| 公開日 | 2013-08-27 | |||||||||||||||||||||||||||
| タイトル | ||||||||||||||||||||||||||||
| タイトル | Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis. | |||||||||||||||||||||||||||
| 言語 | en | |||||||||||||||||||||||||||
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| 言語 | eng | |||||||||||||||||||||||||||
| 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 | |||||||||||||||||||||||||||
| 著者 |
Hong, Tao
× Hong, Tao
× Shinmura, Kazuya
× Yamada, Hidetaka
× Maekawa, Masato
× Osawa, Satoshi
× Takayanagi, Yasuhiro
× Okamoto, Kazuya
× Terai, Tomohiro
× Mori, Hiroki
× Nakamura, Toshio
× Sugimura, Haruhiko
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| 書誌情報 |
BMC research notes 巻 3, p. 305, 発行日 2010-11-16 |
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| 出版者 | ||||||||||||||||||||||||||||
| 出版者 | BioMed Central Ltd | |||||||||||||||||||||||||||
| 権利 | ||||||||||||||||||||||||||||
| 権利情報 | Copyright BioMed Central Ltd | |||||||||||||||||||||||||||
| 抄録 | ||||||||||||||||||||||||||||
| 内容記述タイプ | Abstract | |||||||||||||||||||||||||||
| 内容記述 | Background: Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by multiple colorectal adenomatous polyps and frequent extracolonic manifestations. An attenuated form of FAP (AFAP) is diagnosed based on a milder colorectal phenotype, and the colorectal phenotype of (A)FAP has been linked to germline APC mutations. The relationships between the spectrum of mutations and extracolonic manifestations are quite well known, but they need to be further defined. Findings: Nine germline APC mutations, but no large deletions, were identified in the APC locus of 8 (A)FAP patients, and 5 of the mutations, c.446A > T (p.Asp149Val), c.448A > T (p.Lys150X), c.454_457insAGAA (p.Glu152ArgfsX17), c.497insA (p.Thr166AsnfsX2), and c.1958G > C (p.Arg653Ser), were novel mutations. In one patient the p.Asp149Val mutation and p.Lys150X mutation were detected in the same APC allele. The c.1958G > C mutation was located in the last nucleotide of exon 14, and RT-PCR analysis revealed that the mutation resulted in abnormal splicing. The above findings meant that a nonsense mutation, a frameshift mutation, or an exonic mutation leading to abnormal splicing was found in every patient. The following phenotypes, especially extracolonic manifestations, were observed in our (A)FAP patients: (1) multiple gastroduodenal adenomas and early-onset gastric carcinoma in AFAP patients with an exon 4 mutation; (2) a desmoid tumor in two FAP patients with a germline APC mutation outside the region between codons 1403 and 1578, which was previously reported to be associated with the development of desmoid tumors in FAP patients; (3) multiple myeloma in an AFAP patient with an exon 4 mutation. Conclusions: Nine germline APC mutations, 5 of them were novel, were identified in 8 Japanese (A)FAP patients, and some associations between germline APC mutations and extracolonic manifestations were demonstrated. These findings should contribute to establishing relationships between germline APC mutations and the extracolonic manifestations of (A)FAP patients in the future. | |||||||||||||||||||||||||||
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| 収録物識別子タイプ | ISSN | |||||||||||||||||||||||||||
| 収録物識別子 | 17560500 | |||||||||||||||||||||||||||
| 出版社DOI | ||||||||||||||||||||||||||||
| 関連タイプ | isIdenticalTo | |||||||||||||||||||||||||||
| 識別子タイプ | DOI | |||||||||||||||||||||||||||
| 関連識別子 | 10.1186/1756-0500-3-305 | |||||||||||||||||||||||||||
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| 出版タイプ | VoR | |||||||||||||||||||||||||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||||||||||||||||||||||||
