KEGG   DISEASE: 家族性乳がん卵巣がん
エントリ  
H02531                                                             
名称    
家族性乳がん卵巣がん
  下位グループ
遺伝性乳癌卵巣癌症候群 (HBOC)
概要    
Hereditary susceptibility to breast cancer is considered to be polygenic. The most important breast cancer susceptibility genes are BRCA1 and BRCA2. Mutations in these genes confer a high risk of early-onset breast cancer and also an increased risk of ovarian cancer. Recently, mutations in RAD51C and RAD51D were identified in families with breast and ovarian cancer.
カテゴリ  
がん
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 02 腫瘍
  悪性腫瘍, ただしリンパ, 造血, 中枢神経系または関連組織の原発腫瘍を除く
   悪性腫瘍, 原発性と確定または推定されるもの, 明示された部位のもの, ただしリンパ, 造血, 中枢神経系, 関連組織を除く
    乳房の悪性腫瘍
     2C65  遺伝性乳癌卵巣癌症候群
      H02531  家族性乳がん卵巣がん
パスウェイに基づく疾患分類 [BR:jp08402]
 複製と修復
  nt06506  二本鎖切断修復
   H02531  家族性乳がん卵巣がん
  nt06508  鎖間架橋修復
   H02531  家族性乳がん卵巣がん
パスウェイ 
hsa03440  Homologous recombination
hsa03460  Fanconi anemia pathway
ネットワーク
nt06506 Double-strand break repair
nt06508 Interstrand crosslink repair
病因遺伝子 
(BROVCA1) BRCA1 [HSA:672] [KO:K10605]
(BROVCA2) BRCA2 [HSA:675] [KO:K08775]
(BROVCA3) RAD51C [HSA:5889] [KO:K10870]
(BROVCA4) RAD51D [HSA:5892] [KO:K10871]
(BROVCA5) PALB2 [HSA:79728] [KO:K10897]
リンク   
ICD-11: 2C65
MeSH: D061325
OMIM: 604370 612555 613399 614291 620442
文献    
PMID:11257103
  著者
Welcsh PL, King MC
  タイトル
BRCA1 and BRCA2 and the genetics of breast and ovarian cancer.
  雑誌
Hum Mol Genet 10:705-13 (2001)
DOI:10.1093/hmg/10.7.705
文献    
PMID:7545954 (BROVCA1)
  著者
Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, et al.
  タイトル
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
  雑誌
Science 266:66-71 (1994)
DOI:10.1126/science.7545954
文献    
PMID:8524414 (BROVCA2)
  著者
Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G
  タイトル
Identification of the breast cancer susceptibility gene BRCA2.
  雑誌
Nature 378:789-92 (1995)
DOI:10.1038/378789a0
文献    
PMID:21616938 (BROVCA3)
  著者
Pelttari LM, Heikkinen T, Thompson D, Kallioniemi A, Schleutker J, Holli K, Blomqvist C, Aittomaki K, Butzow R, Nevanlinna H
  タイトル
RAD51C is a susceptibility gene for ovarian cancer.
  雑誌
Hum Mol Genet 20:3278-88 (2011)
DOI:10.1093/hmg/ddr229
文献    
PMID:21822267 (BROVCA4)
  著者
Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N
  タイトル
Germline mutations in RAD51D confer susceptibility to ovarian cancer.
  雑誌
Nat Genet 43:879-882 (2011)
DOI:10.1038/ng.893
文献    
PMID:17200668 (BROVCA5)
  著者
Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D, Easton DF, Stratton MR
  タイトル
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.
  雑誌
Nat Genet 39:165-7 (2007)
DOI:10.1038/ng1959
LinkDB    

» English version

DBGET integrated database retrieval system