| H00876 | |
| H番号 | H00876 |
| 名称 | ミスマッチ修復異常 |
| 概要 | Mismatch repair (MMR) deficiency is a condition associated with DNA mismatch repair mutations. MMR deficiency is correlated with hereditary non-polyposis colorectal cancer (HNPCC) and some forms of sporadic tumors. HNPCC also referred to as Lynch syndrome, is an autosomal-dominant-inherited disorder characterized by predisposition to colorectal cancer and extracolonic malignancies, frequent multiple primary tumors in the same patient, and early age of cancer onset. A clinical variant of Lynch syndrome, Muir-Torre syndrome (MTS) is characterized by the association between one or more visceral malignancies, with at least one sebaceous skin tumor or keratoacanthoma. Turcot syndrome is characterized by the concurrence of primary brain tumors and colon cancers and/or multiple colorectal adenomas. |
| カテゴリ | がん |
| ネットワーク | nt06503 Mismatch repair |
| 病因遺伝子 | (MMRCS1/HNPCC2) MLH1 [HSA:4292] [KO:K08734] (MMRCS2/HNPCC1) MSH2 [HSA:4436] [KO:K08735] (MMRCS3/HNPCC5) MSH6 [HSA:2956] [KO:K08737] (MMRCS4/HNPCC4) PMS2 [HSA:5395] [KO:K10858] (HNPCC7) MLH3 [HSA:27030] [KO:K08739] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 2B9Y ICD-10: Z15 MeSH: D003123 D055847 OMIM: 276300 619096 619097 619101 |
| 文献 | PMID:22175017 著者 Masuda K, Banno K, Yanokura M, Kobayashi Y, Kisu I, Ueki A, Ono A, Asahara N, Nomura H, Hirasawa A, Susumu N, Aoki D タイトル Relationship between DNA Mismatch Repair Deficiency and Endometrial Cancer. 雑誌 Mol Biol Int 2011:256063 (2011) DOI:10.4061/2011/256063 PMID:24737826 著者 Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, Gerdes AM, Goldberg Y, Ilencikova D, Muleris M, Duval A, Lavoine N, Ruiz-Ponte C, Slavc I, Burkhardt B, Brugieres L タイトル Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). 雑誌 J Med Genet 51:355-65 (2014) DOI:10.1136/jmedgenet-2014-102284 PMID:9927033 (MLH1) 著者 Ricciardone MD, Ozcelik T, Cevher B, Ozdag H, Tuncer M, Gurgey A, Uzunalimoglu O, Cetinkaya H, Tanyeli A, Erken E, Ozturk M タイトル Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. 雑誌 Cancer Res 59:290-3 (1999) PMID:12549480 (MSH2) 著者 Bougeard G, Charbonnier F, Moerman A, Martin C, Ruchoux MM, Drouot N, Frebourg T タイトル Early onset brain tumor and lymphoma in MSH2-deficient children. 雑誌 Am J Hum Genet 72:213-6 (2003) DOI:10.1086/345297 PMID:15340263 (MSH6) 著者 Menko FH, Kaspers GL, Meijer GA, Claes K, van Hagen JM, Gille JJ タイトル A homozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer. 雑誌 Fam Cancer 3:123-7 (2004) DOI:10.1023/B:FAME.0000039893.19289.18 PMID:15256438 (PMS2) 著者 Nakagawa H, Lockman JC, Frankel WL, Hampel H, Steenblock K, Burgart LJ, Thibodeau SN, de la Chapelle A タイトル Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. 雑誌 Cancer Res 64:4721-7 (2004) DOI:10.1158/0008-5472.CAN-03-2879 |