\u907a\u4f1d\u6027\u4e73\u304c\u3093\u5375\u5de3\u304c\u3093\u75c7\u5019\u7fa4\uff08HBOC: Hereditary Breast and Ovarian Cancer Syndrome\uff09\u306f\u3001\u4e73\u304c\u3093\u3068\u5375\u5de3\u304c\u3093\u306e\u30ea\u30b9\u30af\u304c\u907a\u4f1d\u7684\u306b\u9ad8\u307e\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002\u7279\u306bBRCA1\u304a\u3088\u3073BRCA2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u4e3b\u306a\u539f\u56e0\u3068\u3055\u308c\u3001\u3053\u308c\u306b\u3088\u308a\u304c\u3093\u306e\u767a\u751f\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002\u3053\u3053\u3067\u306f\u3001HBOC\u306b\u95a2\u9023\u3059\u308b\u6700\u65b0\u306e\u6cbb\u7642\u304a\u3088\u3073\u7814\u7a76\u306e\u52d5\u5411\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n
HBOC\u306f\u4e73\u304c\u3093\u3084\u5375\u5de3\u304c\u3093\u3060\u3051\u3067\u306a\u304f\u3001\u4ed6\u306e\u304c\u3093\u306e\u30ea\u30b9\u30af\u3082\u4e0a\u6607\u3059\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306bBRCA1\u304a\u3088\u3073BRCA2\u907a\u4f1d\u5b50\u306fDNA\u4fee\u5fa9\u6a5f\u80fd\u306b\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068DNA\u306e\u640d\u50b7\u304c\u9069\u5207\u306b\u4fee\u5fa9\u3055\u308c\u305a\u3001\u304c\u3093\u7d30\u80de\u306e\u6210\u9577\u304c\u4fc3\u9032\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n
BRCA1\u5909\u7570\u306e\u3042\u308b\u5973\u6027\u306f\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u4e73\u304c\u3093\u306e\u30ea\u30b9\u30af\u304c\u7d0472\uff05\u3001\u5375\u5de3\u304c\u3093\u306e\u30ea\u30b9\u30af\u304c\u7d0444\uff05\u306b\u9054\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u65b9\u3001BRCA2\u5909\u7570\u306e\u3042\u308b\u5973\u6027\u306e\u4e73\u304c\u3093\u30ea\u30b9\u30af\u306f\u7d0469\uff05\u3001\u5375\u5de3\u304c\u3093\u30ea\u30b9\u30af\u306f\u7d0417\uff05\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n
\u8fd1\u5e74\u3001HBOC\u306b\u304a\u3051\u308b\u6cbb\u7642\u6cd5\u306f\u500b\u5225\u5316\u3055\u308c\u3001\u591a\u69d8\u5316\u3057\u3066\u3044\u307e\u3059\u3002\u4ee5\u4e0b\u306f\u3001HBOC\u306b\u5bfe\u3059\u308b\u4ee3\u8868\u7684\u306a\u6cbb\u7642\u30a2\u30d7\u30ed\u30fc\u30c1\u3067\u3059\u3002<\/p>\n
PARP\uff08Poly ADP-Ribose Polymerase\uff09\u306fDNA\u4fee\u5fa9\u306b\u95a2\u4e0e\u3059\u308b\u9175\u7d20\u3067\u3059\u3002BRCA1\/2\u907a\u4f1d\u5b50\u5909\u7570\u304c\u3042\u308b\u5834\u5408\u3001DNA\u4fee\u5fa9\u7d4c\u8def\u306b\u969c\u5bb3\u304c\u3042\u308b\u305f\u3081\u3001PARP\u963b\u5bb3\u5264\u3092\u7528\u3044\u308b\u3068\u304c\u3093\u7d30\u80de\u304c\u5897\u6b96\u3067\u304d\u306a\u304f\u306a\u308a\u3001\u304c\u3093\u306e\u9032\u884c\u3092\u6291\u3048\u308b\u52b9\u679c\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002\u73fe\u5728\u3001\u30aa\u30e9\u30d1\u30ea\u30d6\u3084\u30eb\u30ab\u30d1\u30ea\u30d6\u306a\u3069\u306ePARP\u963b\u5bb3\u5264\u304c\u4e73\u304c\u3093\u3084\u5375\u5de3\u304c\u3093\u306e\u6cbb\u7642\u306b\u7528\u3044\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n
\u7279\u306b\u30012023\u5e74\u306b\u767a\u8868\u3055\u308c\u305f\u7814\u7a76\u3067\u306f\u3001\u30aa\u30e9\u30d1\u30ea\u30d6\u3092\u542b\u3080PARP\u963b\u5bb3\u5264\u304cBRCA\u5909\u7570\u967d\u6027\u306e\u60a3\u8005\u306b\u304a\u3044\u3066\u304c\u3093\u306e\u518d\u767a\u30ea\u30b9\u30af\u3092\u6e1b\u5c11\u3055\u305b\u308b\u52b9\u679c\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3057\u305f\u3002\u307e\u305f\u3001PARP\u963b\u5bb3\u5264\u306f\u3001\u8ee2\u79fb\u6027\u304c\u3093\u3084\u518d\u767a\u6027\u304c\u3093\u306b\u5bfe\u3059\u308b\u6cbb\u7642\u9078\u629e\u80a2\u3068\u3057\u3066\u3082\u91cd\u8981\u8996\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n
HBOC\u95a2\u9023\u304c\u3093\u306b\u5bfe\u3059\u308b\u514d\u75ab\u7642\u6cd5\u3082\u3001\u8fd1\u5e74\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u514d\u75ab\u30c1\u30a7\u30c3\u30af\u30dd\u30a4\u30f3\u30c8\u963b\u5bb3\u5264\u306f\u3001\u304c\u3093\u7d30\u80de\u304c\u514d\u75ab\u7cfb\u304b\u3089\u9003\u308c\u308b\u306e\u3092\u9632\u304e\u3001\u60a3\u8005\u81ea\u8eab\u306e\u514d\u75ab\u7cfb\u304c\u304c\u3093\u3092\u653b\u6483\u3059\u308b\u3088\u3046\u306b\u4fc3\u3057\u307e\u3059\u3002\u7279\u306bPD-1\/PD-L1\u963b\u5bb3\u5264\u304cHBOC\u95a2\u9023\u4e73\u304c\u3093\u3084\u5375\u5de3\u304c\u3093\u3067\u306e\u52b9\u679c\u304c\u793a\u3055\u308c\u3064\u3064\u3042\u308a\u3001\u514d\u75ab\u7642\u6cd5\u306e\u3055\u3089\u306a\u308b\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n
HBOC\u3068\u8a3a\u65ad\u3055\u308c\u305f\u5834\u5408\u3001\u304c\u3093\u306e\u767a\u75c7\u3092\u9632\u3050\u305f\u3081\u306e\u4e88\u9632\u7684\u624b\u8853\u304c\u9078\u629e\u80a2\u3068\u306a\u308a\u307e\u3059\u3002\u4e73\u623f\u6458\u51fa\u8853\u3084\u5375\u5de3\u6458\u51fa\u8853\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304c\u3093\u306e\u30ea\u30b9\u30af\u3092\u5927\u5e45\u306b\u6e1b\u3089\u3059\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u624b\u8853\u306f\u8eab\u4f53\u7684\u30fb\u5fc3\u7406\u7684\u306a\u8ca0\u62c5\u304c\u4f34\u3046\u305f\u3081\u3001\u5404\u60a3\u8005\u306b\u5bfe\u3059\u308b\u30ea\u30b9\u30af\u8a55\u4fa1\u3068\u9069\u5207\u306a\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n
\u7279\u306b\u6700\u8fd1\u306e\u7814\u7a76\u3067\u306f\u3001\u5375\u5de3\u6458\u51fa\u8853\u5f8c\u306e\u65e9\u671f\u9589\u7d4c\u304c\u5973\u6027\u306e\u751f\u6d3b\u306e\u8cea\u306b\u4e0e\u3048\u308b\u5f71\u97ff\u304c\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u60a3\u8005\u306e\u5e0c\u671b\u3084\u30ea\u30b9\u30af\u306b\u5fdc\u3058\u3066\u624b\u8853\u6642\u671f\u306e\u8abf\u6574\u3084\u3001\u624b\u8853\u306b\u4ee3\u308f\u308b\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u306e\u9078\u629e\u3082\u8003\u616e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n
HBOC\u306e\u30ea\u30b9\u30af\u3092\u65e9\u671f\u306b\u767a\u898b\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002BRCA\u5909\u7570\u306e\u6709\u7121\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u3067\u3001\u30ea\u30b9\u30af\u306e\u9ad8\u3044\u60a3\u8005\u306b\u5bfe\u3059\u308b\u9069\u5207\u306a\u6cbb\u7642\u3084\u4e88\u9632\u7b56\u306e\u63d0\u4f9b\u304c\u53ef\u80fd\u3068\u306a\u308a\u307e\u3059\u3002\u7279\u306b\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u500b\u5225\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u3068\u6cbb\u7642\u8a08\u753b\u306e\u7acb\u6848\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n
\u3055\u3089\u306b\u30012024\u5e74\u306e\u7814\u7a76\u306b\u3088\u308b\u3068\u3001BRCA\u5909\u7570\u306b\u95a2\u9023\u3059\u308b\u4ed6\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3082HBOC\u306e\u30ea\u30b9\u30af\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3001\u3053\u308c\u306b\u3088\u308a\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u306e\u7bc4\u56f2\u304c\u62e1\u5927\u3055\u308c\u3064\u3064\u3042\u308a\u307e\u3059\u3002\u5305\u62ec\u7684\u306a\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u306b\u3088\u308a\u3001BRCA\u4ee5\u5916\u306e\u304c\u3093\u30ea\u30b9\u30af\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u3082\u691c\u51fa\u3067\u304d\u308b\u305f\u3081\u3001\u3088\u308a\u6b63\u78ba\u306a\u30ea\u30b9\u30af\u8a55\u4fa1\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n
\u8fd1\u5e74\u3001HBOC\u306b\u95a2\u3059\u308b\u7814\u7a76\u306f\u6025\u901f\u306b\u9032\u5c55\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u3053\u3067\u306f\u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\u3092\u3044\u304f\u3064\u304b\u7d39\u4ecb\u3057\u307e\u3059\u3002<\/p>\n
CRISPR-Cas9\u306a\u3069\u306e\u30b2\u30ce\u30e0\u7de8\u96c6\u6280\u8853\u304c\u3001HBOC\u306e\u6cbb\u7642\u306b\u5fdc\u7528\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u6a21\u7d22\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u6280\u8853\u3092\u7528\u3044\u308b\u3053\u3068\u3067\u3001BRCA\u5909\u7570\u3092\u4fee\u5fa9\u3057\u3001\u304c\u3093\u306e\u30ea\u30b9\u30af\u3092\u6e1b\u5c11\u3055\u305b\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001CRISPR\u6280\u8853\u306f\u5b89\u5168\u6027\u306e\u554f\u984c\u3084\u502b\u7406\u7684\u306a\u61f8\u5ff5\u3082\u3042\u308a\u3001\u81e8\u5e8a\u5fdc\u7528\u306b\u306f\u307e\u3060\u591a\u304f\u306e\u8ab2\u984c\u304c\u6b8b\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n
\u304c\u3093\u3068\u8178\u5185\u7d30\u83cc\u306e\u95a2\u4fc2\u306b\u95a2\u3059\u308b\u7814\u7a76\u304c\u9032\u3080\u4e2d\u3001HBOC\u60a3\u8005\u306e\u8178\u5185\u7d30\u83cc\u304c\u304c\u3093\u306e\u9032\u884c\u3084\u6cbb\u7642\u53cd\u5fdc\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u8178\u5185\u7d30\u83cc\u304c\u514d\u75ab\u7cfb\u306b\u4e0e\u3048\u308b\u5f71\u97ff\u3092\u8003\u616e\u3057\u3001\u8178\u5185\u74b0\u5883\u306e\u6539\u5584\u3092\u901a\u3058\u305f\u304c\u3093\u4e88\u9632\u3084\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n
AI\u6280\u8853\u3092\u7528\u3044\u305f\u4e88\u5f8c\u4e88\u6e2c\u30e2\u30c7\u30eb\u306e\u958b\u767a\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001HBOC\u60a3\u8005\u3054\u3068\u306e\u518d\u767a\u30ea\u30b9\u30af\u3084\u6cbb\u7642\u52b9\u679c\u3092\u3088\u308a\u6b63\u78ba\u306b\u4e88\u6e2c\u3067\u304d\u3001\u6700\u9069\u306a\u6cbb\u7642\u30d7\u30e9\u30f3\u306e\u7acb\u6848\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u500b\u3005\u306e\u60a3\u8005\u306b\u5408\u308f\u305b\u305f\u7cbe\u5bc6\u306a\u533b\u7642\u304c\u5b9f\u73fe\u3059\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n
HBOC\u3068\u8a3a\u65ad\u3055\u308c\u305f\u60a3\u8005\u3084\u305d\u306e\u5bb6\u65cf\u306b\u306f\u3001\u5fc3\u7406\u7684\u306a\u8ca0\u62c5\u304c\u4f34\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u8a3a\u65ad\u6642\u304b\u3089\u306e\u7d99\u7d9a\u7684\u306a\u5fc3\u7406\u30b5\u30dd\u30fc\u30c8\u304c\u91cd\u8981\u3067\u3059\u3002\u307e\u305f\u3001HBOC\u306b\u95a2\u3059\u308b\u793e\u4f1a\u7684\u306a\u7406\u89e3\u3092\u6df1\u3081\u308b\u305f\u3081\u306e\u6559\u80b2\u3084\u5553\u767a\u6d3b\u52d5\u3082\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u60a3\u8005\u3068\u305d\u306e\u5bb6\u65cf\u304c\u7a4d\u6975\u7684\u306b\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u3089\u308c\u308b\u4f53\u5236\u3092\u6574\u3048\u308b\u3053\u3068\u304c\u3001HBOC\u306e\u6cbb\u7642\u3068\u4e88\u9632\u306b\u304a\u3051\u308b\u91cd\u8981\u306a\u8981\u7d20\u3067\u3059\u3002<\/p>\n
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