遺伝性非ポリポーシス大腸癌とは何？わかりやすく解説 Weblio辞書

遺伝性非ポリポーシス大腸癌

出典: フリー百科事典『ウィキペディア（Wikipedia）』 (2022/06/15 15:35 UTC 版)

遺伝性非ポリポーシス大腸癌（いでんせい・ひポリポーシス・だいちょうがん、英: Hereditary nonpolyposis colorectal cancer、HNPCC ）とは常染色体優性の遺伝的素因による大腸癌である^[1]。子宮癌、卵巣癌、胃癌、小腸腫瘍、胆嚢癌、尿管癌、脳腫瘍、皮膚癌など、他臓器における発癌もしばしばみられる。これらの発癌リスクの上昇はDNAミスマッチ修復酵素の変異による。

脚注

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^ http://grj.umin.jp/grj/hnpcc.htm
^ Nicolaides NC, Papadopoulos N, Liu B, et al. (September 1994). “Mutations of two PMS homologues in hereditary nonpolyposis colon cancer”. Nature 371 (6492): 75–80. doi:10.1038/371075a0. PMID 8072530.
^ Lu SL, Kawabata M, Imamura T, et al. (May 1998). “HNPCC associated with germline mutation in the TGF-beta type II receptor gene”. Nat. Genet. 19 (1): 17–8. doi:10.1038/ng0598-17. PMID 9590282.
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^ Ramsoekh D, Wagner A, van Leerdam ME, et al. (November 2008). “A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting”. Gut 57 (11): 1539–44. doi:10.1136/gut.2008.156695. PMID 18625694.
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^ Goldberg Y, Porat RM, Kedar I, et al. (October 2009). “An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC”. Fam. Cancer 9 (2): 141–50. doi:10.1007/s10689-009-9298-9. PMID 19851887.
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^ Le DT, et al. PD-1 Blockade in Tumors with Mismatch-Repair Deficiency. N Engl J Med. 2015 Jun 25;372(26):2509-20. doi: 10.1056/NEJMoa1500596. Epub 2015 May 30.
^ http://www.ono.co.jp/jpnw/PDF/n17_0803.pdf
^ 野水整、権田憲士他「わが国における遺伝性非ポリポーシス大腸癌の臨床的検討　－文献的考察－」『家族性腫瘍』第4巻第1号、2004年、 p.p.42-48、 ISSN 1346-1052。
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^ The Abramson Cancer Center of the University of Pennsylvania (2002年1月6日). “OncoLink eNews: On the Forefront of Colorectal Cancer, Winter 2002”. OncoLink. 2010年8月21日閲覧。

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遺伝性非ポリポーシス大腸癌（Hereditary nonpolyposis colorectal cancer;HNPCC）

出典: フリー百科事典『ウィキペディア（Wikipedia）』 (2022/05/06 09:14 UTC 版)

「大腸癌」の記事における「遺伝性非ポリポーシス大腸癌（Hereditary nonpolyposis colorectal cancer;HNPCC）」の解説

大腸癌や他臓器癌の高リスク群であるため定期的なスクリーニングが推奨される。

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