{"id":8320,"date":"2019-04-22T13:52:37","date_gmt":"2019-04-22T06:52:37","guid":{"rendered":"https:\/\/www.hmm88i.com\/drug\/?p=8320"},"modified":"2019-04-25T14:03:23","modified_gmt":"2019-04-25T07:03:23","slug":"10-thong-tin-nen-biet-ve-xet-nghiem-gen-trong-ung-thu","status":"publish","type":"post","link":"https:\/\/hmm88i.com\/drug\/10-thong-tin-nen-biet-ve-xet-nghiem-gen-trong-ung-thu\/","title":{"rendered":"10 th\u00f4ng tin n\u00ean bi\u1ebft v\u1ec1 x\u00e9t nghi\u1ec7m gen trong ung th\u01b0"},"content":{"rendered":"<h2>Th\u00f4ng tin 1: M\u1ed7i ng\u01b0\u1eddi c\u00f3 kho\u1ea3ng 20.000 \u0111\u1ebfn 25.000 gen: [1]<\/h2>\n<p><strong>Gen<\/strong> l\u00e0 m\u1ed9t \u0111o\u1ea1n c\u1ee7a ph\u00e2n t\u1eed DNA (deoxyribonucleic acid), l\u00e0 \u0111\u01a1n v\u1ecb c\u1ea5u tr\u00fac v\u00e0 ch\u1ee9c n\u0103ng c\u01a1 b\u1ea3n c\u1ee7a di truy\u1ec1n. T\u1eeb c\u00e1c th\u00f4ng tin di truy\u1ec1n ch\u1ee9a trong gen, t\u1ebf b\u00e0o c\u01a1 th\u1ec3 s\u1ebd t\u1ed5ng h\u1ee3p n\u00ean c\u00e1c protein c\u1ea7n thi\u1ebft cho s\u1ef1 ph\u00e1t tri\u1ec3n c\u1ee7a t\u1ebf b\u00e0o trong c\u01a1 th\u1ec3, c\u0169ng nh\u01b0 g\u00f3p ph\u1ea7n di truy\u1ec1n l\u1ea1i nh\u1eefng \u0111\u1eb7c \u0111i\u1ec3m c\u1ee7a b\u1ed1 m\u1eb9 cho con c\u00e1i, v\u00ed d\u1ee5: m\u00e0u t\u00f3c, m\u00e0u m\u1eaft, chi\u1ec1u cao. D\u1ef1 \u00e1n gi\u1ea3i m\u00e3 h\u1ec7 gen ng\u01b0\u1eddi (The Human Genome Project) \u01b0\u1edbc \u0111o\u00e1n con ng\u01b0\u1eddi c\u00f3 kho\u1ea3ng 20,000 \u0111\u1ebfn 25,000 gen.<\/p>\n<h2>Th\u00f4ng tin 2: \u0110\u1ed9t bi\u1ebfn gen gi\u1eef vai tr\u00f2 quan tr\u1ecdng trong vi\u1ec7c h\u00ecnh th\u00e0nh ung th\u01b0: [2]<\/h2>\n<p>\u0110\u1ed9t bi\u1ebfn gen (gene mutation): l\u00e0 nh\u1eefng thay \u0111\u1ed5i trong c\u1ea5u tr\u00fac c\u1ee7a DNA c\u1ea5u t\u1ea1o n\u00ean gen d\u1eabn \u0111\u1ebfn s\u1ef1 sai l\u1ec7ch th\u00f4ng tin di truy\u1ec1n v\u00e0 t\u1ea1o ra c\u00e1c protein b\u1ea5t th\u01b0\u1eddng ho\u1eb7c bi\u1ebfn \u0111\u1ed5i c\u00e1c protein gi\u00fap b\u1ea3o v\u1ec7 c\u01a1 th\u1ec3 ch\u1ed1ng ung th\u01b0. \u0110\u1ed9t bi\u1ebfn gen gi\u1eef vai tr\u00f2 quan tr\u1ecdng trong vi\u1ec7c h\u00ecnh th\u00e0nh, ph\u00e1t tri\u1ec3n c\u1ee7a ung th\u01b0 b\u1edfi v\u00ec nh\u1eefng thay \u0111\u1ed5i trong DNA c\u00f3 th\u1ec3 l\u00e0m r\u1ed1i lo\u1ea1n qu\u00e1 tr\u00ecnh t\u1ed5ng h\u1ee3p n\u00ean c\u00e1c protein c\u00f3 \u1ea3nh h\u01b0\u1edfng l\u00ean qu\u00e1 tr\u00ecnh t\u0103ng tr\u01b0\u1edfng v\u00e0 ph\u00e2n chia \u1edf t\u1ebf b\u00e0o.<\/p>\n<p>\u0110\u1ed9t bi\u1ebfn gen c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c ph\u00e2n th\u00e0nh hai nh\u00f3m ch\u00ednh:<\/p>\n<ul>\n<li>\u0110\u1ed9t bi\u1ebfn di truy\u1ec1n (hereditary mutation): \u0111\u01b0\u1ee3c di truy\u1ec1n t\u1eeb b\u1ed1\/m\u1eb9, hi\u1ec7n di\u1ec7n \u1edf m\u1ed7i t\u1ebf b\u00e0o trong c\u01a1 th\u1ec3 v\u00e0 t\u1ed3n t\u1ea1i trong su\u1ed1t \u0111\u1eddi ng\u01b0\u1eddi. \u01af\u1edbc t\u00ednh c\u00f3 kho\u1ea3ng 5% \u2013 10% trong s\u1ed1 t\u1ea5t c\u1ea3 c\u00e1c lo\u1ea1i ung th\u01b0, \u0111\u01b0\u1ee3c cho l\u00e0 c\u00f3 li\u00ean h\u1ec7 ch\u1eb7t ch\u1ebd v\u1edbi c\u00e1c \u0111\u1ed9t bi\u1ebfn gen di truy\u1ec1n.<\/li>\n<li>\u0110\u1ed9t bi\u1ebfn m\u1eafc ph\u1ea3i (acquired \/somatic mutations): \u0111\u01b0\u1ee3c h\u00ecnh th\u00e0nh t\u1ea1i m\u1ed9t th\u1eddi \u0111i\u1ec3m n\u00e0o \u0111\u00f3 trong qu\u00e1 tr\u00ecnh s\u1ed1ng v\u00e0 ch\u1ec9 hi\u1ec7n di\u1ec7n \u1edf m\u1ed9t s\u1ed1 t\u1ebf b\u00e0o nh\u1ea5t \u0111\u1ecbnh. Nh\u1eefng \u0111\u1ed9t bi\u1ebfn n\u00e0y c\u00f3 th\u1ec3 do c\u00e1c y\u1ebfu t\u1ed1 \u0111\u1ebfn t\u1eeb m\u00f4i tr\u01b0\u1eddng b\u00ean ngo\u00e0i g\u00e2y ra nh\u01b0 ti\u1ebfp x\u00fac nhi\u1ec1u v\u1edbi \u00e1nh n\u1eafng m\u1eb7t tr\u1eddi ho\u1eb7c kh\u00f3i thu\u1ed1c l\u00e1; hay c\u00f3 th\u1ec3 ng\u1eabu nhi\u00ean t\u1eeb b\u00ean trong t\u1ebf b\u00e0o do sai s\u00f3t khi t\u1ed5ng h\u1ee3p DNA trong qu\u00e1 tr\u00ecnh ph\u00e2n chia. \u0110a s\u1ed1 (h\u01a1n 90%) ung th\u01b0 kh\u1edfi \u0111\u1ea7u b\u1eb1ng \u0111\u1ed9t bi\u1ebfn gen m\u1eafc ph\u1ea3i.<\/li>\n<\/ul>\n<h2>Th\u00f4ng tin 3: X\u00e9t nghi\u1ec7m gen trong ung th\u01b0 nh\u1eb1m t\u00ecm ki\u1ebfm nh\u1eefng \u0111\u1ed9t bi\u1ebfn gen \u0111\u00e3 bi\u1ebft:<\/h2>\n<p>X\u00e9t nghi\u1ec7m gen trong ung th\u01b0 l\u00e0 nh\u1eefng x\u00e9t nghi\u1ec7m nh\u1eb1m t\u00ecm ki\u1ebfm c\u00e1c \u0111\u1ed9t bi\u1ebfn gen nh\u1ea5t \u0111\u1ecbnh \u1edf ng\u01b0\u1eddi m\u00e0 c\u00e1c gen n\u00e0y c\u00f3 \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn qu\u00e1 tr\u00ecnh h\u00ecnh th\u00e0nh, ph\u00e1t tri\u1ec3n c\u1ee7a m\u1ed9t lo\u1ea1i ung th\u01b0 n\u00e0o \u0111\u00f3.<\/p>\n<p>D\u1ef1a tr\u00ean ti\u1ec1n s\u1eed c\u1ee7a m\u1ed7i ng\u01b0\u1eddi v\u00e0 c\u1ee7a c\u00e1c th\u00e0nh vi\u00ean trong gia \u0111\u00ecnh, c\u0169ng nh\u01b0 nh\u1eefng x\u00e9t nghi\u1ec7m di truy\u1ec1n m\u00e0 ng\u01b0\u1eddi \u0111\u00f3 \u0111\u00e3 th\u1ef1c hi\u1ec7n, b\u00e1c s\u0129 s\u1ebd t\u01b0 v\u1ea5n lo\u1ea1i x\u00e9t nghi\u1ec7m gen n\u00e0o ph\u00f9 h\u1ee3p v\u1edbi h\u1ecd. X\u00e9t nghi\u1ec7m gen trong ung th\u01b0 c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c chia l\u00e0m 2 lo\u1ea1i: [3]\n<ul>\n<li>X\u00e9t nghi\u1ec7m \u0111a gen (a multi-gene panel): L\u00e0 lo\u1ea1i x\u00e9t nghi\u1ec7m cho ph\u00e9p ph\u00e2n t\u00edch nhi\u1ec1u gen \u0111\u1ed3ng th\u1eddi trong c\u00f9ng m\u1ed9t m\u1eabu v\u1eadt ph\u1ea9m. Lo\u1ea1i x\u00e9t nghi\u1ec7m n\u00e0y gi\u00fap \u00edch trong nh\u1eefng tr\u01b0\u1eddng h\u1ee3p m\u1ed9t s\u1ed1 gen kh\u00e1c nhau c\u00f9ng g\u00e2y ra c\u00e1c lo\u1ea1i ung th\u01b0 gi\u1ed1ng nhau ho\u1eb7c c\u00f3 li\u00ean quan v\u1edbi nhau v\u1edbi nhau. V\u00ed d\u1ee5: X\u00e9t nghi\u1ec7m \u0111a gen trong ung th\u01b0 ti\u1ec1n li\u1ec7t tuy\u1ebfn (prostate cancer panel), c\u00f3 th\u1ec3 th\u1ef1c hi\u1ec7n ph\u00e2n t\u00edch 10 gen kh\u00e1c nhau c\u00f3 li\u00ean quan nh\u01b0: BRCA1, BRCA2, CHEK2, HOXB13, MLH1, MSH2, MSH6, NBN, PTEN v\u00e0 TP53. [4]<\/li>\n<li>X\u00e9t nghi\u1ec7m gen \u0111\u1eb7c hi\u1ec7u (site-specific testing): Lo\u1ea1i x\u00e9t nghi\u1ec7m n\u00e0y \u0111\u01b0\u1ee3c khuy\u00ean th\u1ef1c hi\u1ec7n \u1edf nh\u1eefng ng\u01b0\u1eddi m\u00e0 trong gia \u0111\u00ecnh c\u00f3 th\u00e0nh vi\u00ean \u0111\u00e3 ph\u00e1t hi\u1ec7n m\u1ed9t \u0111\u1ed9t bi\u1ebfn \u0111\u1eb7c hi\u1ec7u n\u00e0o \u0111\u00f3. V\u00ed d\u1ee5: M\u1ed9t ng\u01b0\u1eddi m\u1eafc ung th\u01b0 v\u00fa, l\u00e0m x\u00e9t nghi\u1ec7m gen ph\u00e1t hi\u1ec7n \u0111\u1ed9t bi\u1ebfn \u1edf gen BRCA1. Khi \u0111\u00f3 c\u00e1c th\u00e0nh vi\u00ean kh\u00e1c trong gia \u0111\u00ecnh c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c khuy\u00ean th\u1ef1c hi\u1ec7n tr\u01b0\u1edbc x\u00e9t nghi\u1ec7m gen BRCA1, thay v\u00ec ph\u1ea3i th\u1ef1c hi\u1ec7n t\u1ea5t c\u1ea3 nh\u1eefng x\u00e9t nghi\u1ec7m gen kh\u00e1c, \u0111\u1ec3 c\u00f3 th\u1ec3 \u0111\u00e1nh gi\u00e1 nguy c\u01a1 di truy\u1ec1n g\u00e2y ung th\u01b0 c\u1ee7a gen n\u00e0y.<\/li>\n<\/ul>\n<p>X\u00e9t nghi\u1ec7m gen c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n tr\u00ean m\u1eabu m\u00f4 ung th\u01b0 \u0111\u01b0\u1ee3c l\u1ea5y t\u1eeb ng\u01b0\u1eddi b\u1ec7nh ho\u1eb7c m\u1eabu m\u00e1u, t\u00f3c, da, n\u01b0\u1edbc \u1ed1i ho\u1eb7c c\u00e1c m\u1eabu m\u00f4 kh\u00e1c[5]. C\u00e1c m\u1eabu m\u00f4 sau \u0111\u00f3 s\u1ebd \u0111\u01b0\u1ee3c chuy\u1ec3n \u0111\u1ebfn ph\u00f2ng x\u00e9t nghi\u1ec7m. T\u1ea1i \u0111\u00e2y, c\u00e1c k\u1ef9 thu\u1eadt vi\u00ean s\u1ebd t\u00ecm ki\u1ebfm nh\u1eefng bi\u1ebfn \u0111\u1ed5i \u0111\u1eb7c hi\u1ec7u tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3, DNA v\u00e0 protein v\u00e0 \u0111\u01b0a ra k\u1ebft qu\u1ea3 v\u1ec1 \u0111\u1ed9t bi\u1ebfn gen. B\u1edfi s\u1ed1 l\u01b0\u1ee3ng gen trong b\u1ed9 gen c\u0169ng nh\u01b0 t\u1ed5 h\u1ee3p c\u00e1c ki\u1ec3u \u0111\u1ed9t bi\u1ebfn l\u00e0 r\u1ea5t l\u1edbn, do \u0111\u00f3 hi\u1ec7n nay c\u00e1c \u0111\u1ed9t bi\u1ebfn gen c\u00f3 th\u1ec3 x\u00e9t nghi\u1ec7m c\u00f2n kh\u00e1 h\u1ea1n ch\u1ebf.<\/p>\n<h2>Th\u00f4ng tin 4: X\u00e9t nghi\u1ec7m gen c\u00f3 th\u1ec3 d\u1ef1 \u0111o\u00e1n nguy c\u01a1 ung th\u01b0: [5]<\/h2>\n<p>\u0110\u1ed1i v\u1edbi nh\u1eefng th\u00e0nh vi\u00ean trong gia \u0111\u00ecnh c\u00f3 ti\u1ec1n c\u0103n li\u00ean quan v\u1edbi m\u1ed9t s\u1ed1 lo\u1ea1i ung th\u01b0 nh\u1ea5t \u0111\u1ecbnh (nh\u01b0 trong c\u00e1c h\u1ed9i ch\u1ee9ng di truy\u1ec1n s\u1ebd n\u00f3i \u1edf ph\u1ea7n sau). N\u1ebfu ng\u01b0\u1eddi \u0111\u00f3 \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n c\u00f3 \u0111\u1ed9t bi\u1ebfn gen do di truy\u1ec1n l\u00e0m t\u0103ng nguy c\u01a1 ung th\u01b0, h\u1ecd s\u1ebd \u0111\u01b0\u1ee3c theo d\u00f5i th\u01b0\u1eddng xuy\u00ean h\u01a1n, b\u1eb1ng c\u00e1c x\u00e9t nghi\u1ec7m chuy\u00ean bi\u1ec7t h\u01a1n \u0111\u1ec3 ph\u00e1t hi\u1ec7n s\u1edbm ung th\u01b0 hay c\u00f3 nh\u1eefng \u0111i\u1ec1u tr\u1ecb ph\u00f2ng ng\u1eeba nh\u1eb1m l\u00e0m gi\u1ea3m nguy c\u01a1 ung th\u01b0 c\u1ee7a h\u1ecd. V\u00ed d\u1ee5: X\u00e9t nghi\u1ec7m \u0111\u1ed9t bi\u1ebfn \u1edf gen BRCA1 v\u00e0 BRCA2 cho nh\u1eefng ph\u1ee5 n\u1eef c\u00f3 m\u1eb9 ho\u1eb7c ch\u1ecb\/em g\u00e1i m\u1eafc ung th\u01b0 v\u00fa. \u0110\u1ed9t bi\u1ebfn gen BRCA1 v\u00e0 BRCA2 \u0111\u01b0\u1ee3c bi\u1ebft l\u00e0 l\u00e0m t\u0103ng nguy c\u01a1 ung th\u01b0 v\u00fa v\u00e0 ung th\u01b0 bu\u1ed3ng tr\u1ee9ng.<\/p>\n<p>\u0110\u1ed1i v\u1edbi ng\u01b0\u1eddi \u0111\u00e3 \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n ung th\u01b0 c\u00f3 nh\u1eefng y\u1ebfu t\u1ed1 g\u1ee3i \u00fd ung th\u01b0 li\u00ean quan \u0111\u1ebfn \u0111\u1ed9t bi\u1ebfn di truy\u1ec1n, v\u00ed d\u1ee5 nh\u01b0: trong gia \u0111\u00ecnh c\u00f3 nhi\u1ec1u ng\u01b0\u1eddi c\u00f9ng m\u1eafc ung th\u01b0 ho\u1eb7c ph\u00e1t hi\u1ec7n ung th\u01b0 \u1edf \u0111\u1ed9 tu\u1ed5i tr\u1ebb. K\u1ebft qu\u1ea3 x\u00e9t nghi\u1ec7m gen c\u00f3 th\u1ec3 g\u1ee3i \u00fd kh\u1ea3 n\u0103ng h\u1ecd c\u0169ng c\u00f3 th\u1ec3 m\u1eafc nh\u1eefng ung th\u01b0 kh\u00e1c c\u0169ng li\u00ean quan \u0111\u1ebfn c\u00f9ng m\u1ed9t \u0111\u1ed9t bi\u1ebfn di truy\u1ec1n.<\/p>\n<h2>Th\u00f4ng tin 5: X\u00e9t nghi\u1ec7m gen gi\u00fap l\u1ef1a ch\u1ecdn ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb ung th\u01b0 v\u00e0 d\u1ef1 \u0111o\u00e1n di\u1ec5n ti\u1ebfn c\u1ee7a b\u1ec7nh: [5]<\/h2>\n<p>Trong \u0111i\u1ec1u tr\u1ecb m\u1ed9t s\u1ed1 b\u1ec7nh ung th\u01b0, c\u00e1c t\u1ebf b\u00e0o \u00e1c t\u00ednh \u0111\u01b0\u1ee3c l\u1ea5y t\u1eeb b\u1ec7nh nh\u00e2n s\u1ebd \u0111\u01b0\u1ee3c ti\u1ebfn h\u00e0nh c\u00e1c x\u00e9t nghi\u1ec7m gen nh\u1eb1m t\u00ecm ki\u1ebfm nh\u1eefng gen \u0111\u1ed9t bi\u1ebfn c\u00f3 li\u00ean quan \u0111\u1ebfn vi\u1ec7c \u0111i\u1ec1u tr\u1ecb b\u1ec7nh sau \u0111\u00f3; qua \u0111\u00f3 gi\u00fap l\u1ef1a ch\u1ecdn ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb ph\u00f9 h\u1ee3p ho\u1eb7c d\u1ef1 \u0111o\u00e1n \u0111\u00e1p \u1ee9ng c\u1ee7a vi\u1ec7c \u0111i\u1ec1u tr\u1ecb c\u0169ng nh\u01b0 t\u1ed1c \u0111\u1ed9 ph\u00e1t tri\u1ec3n, kh\u1ea3 n\u0103ng t\u00e1i ph\u00e1t c\u1ee7a b\u1ec7nh. C\u00e1c gen \u0111\u1ed9t bi\u1ebfn \u0111\u01b0\u1ee3c x\u00e9t nghi\u1ec7m l\u00e0 c\u00e1c gen \u0111\u00e3 \u0111\u01b0\u1ee3c nghi\u00ean c\u1ee9u tr\u01b0\u1edbc \u0111\u00f3 v\u1ec1 vai tr\u00f2 \u0111\u1ed1i v\u1edbi m\u1ed9t lo\u1ea1i ung th\u01b0 t\u01b0\u01a1ng \u1ee9ng.<\/p>\n<p>V\u00ed d\u1ee5: \u1ede nh\u1eefng ng\u01b0\u1eddi b\u1ec7nh \u0111\u00e3 \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n ung th\u01b0 bi\u1ec3u m\u00f4 ph\u1ed5i kh\u00f4ng t\u1ebf b\u00e0o nh\u1ecf (Non-small-cell lung carcinoma \u2013 NSCLC), x\u00e9t nghi\u1ec7m m\u1eabu m\u00f4 \u00e1c t\u00ednh n\u1ebfu c\u00f3 ch\u1ee9a c\u00e1c \u0111\u1ed9t bi\u1ebfn th\u1ee5 th\u1ec3 t\u0103ng tr\u01b0\u1edfng bi\u1ec3u m\u00f4 (epidermal growth factor receptor \u2013 EGFR) cho th\u1ea5y nh\u1eefng ng\u01b0\u1eddi n\u00e0y th\u01b0\u1eddng c\u00f3 \u0111\u00e1p \u1ee9ng t\u1ed1t h\u01a1n v\u1edbi thu\u1ed1c nh\u1eafm tr\u00fang \u0111\u00edch \u1ee9c ch\u1ebf th\u1ee5 th\u1ec3 t\u0103ng tr\u01b0\u1edfng bi\u1ec3u m\u00f4 (EGFR tyrosine kinase inhibitors \u2013 EGFR-TKIs). [6]\n<h2>Th\u00f4ng tin 6: C\u00e1c \u0111\u1ed9t bi\u1ebfn gen di truy\u1ec1n c\u00f3 th\u1ec3 g\u00e2y ra c\u00e1c h\u1ed9i ch\u1ee9ng li\u00ean quan \u0111\u1ebfn kh\u1ea3 n\u0103ng m\u1eafc nhi\u1ec1u lo\u1ea1i ung th\u01b0 kh\u00e1c nhau [7]<\/h2>\n<p>C\u00f3 h\u01a1n 50 h\u1ed9i ch\u1ee9ng ung th\u01b0 di truy\u1ec1n \u0111\u00e3 \u0111\u01b0\u1ee3c bi\u1ebft \u0111\u1ebfn. D\u01b0\u1edbi \u0111\u00e2y l\u00e0 m\u1ed9t s\u1ed1 h\u1ed9i ch\u1ee9ng ung th\u01b0 di truy\u1ec1n th\u01b0\u1eddng g\u1eb7p v\u00e0 c\u00f3 th\u1ec3 ph\u00e1t hi\u1ec7n b\u1eb1ng x\u00e9t nghi\u1ec7m gen:<\/p>\n<h3>H\u1ed9i ch\u1ee9ng ung th\u01b0 bu\u1ed3ng tr\u1ee9ng v\u00e0 ung th\u01b0 v\u00fa di truy\u1ec1n:<\/h3>\n<p>Do gen BRCA1 v\u00e0 BRCA2 (Breast cancer)<\/p>\n<p>Gen BRCA1 v\u00e0 BRCA2 mang th\u00f4ng tin di truy\u1ec1n \u0111\u1ec3 t\u1ed5ng h\u1ee3p n\u00ean protein BRCA1 v\u00e0 protein BRCA2. Hai protein n\u00e0y c\u00f3 vai tr\u00f2 nh\u01b0 nh\u1eefng ch\u1ea5t \u1ee9c ch\u1ebf kh\u1ed1i u, tham gia s\u1eeda ch\u1eefa c\u00e1c DNA b\u1ecb t\u1ed5n th\u01b0\u01a1ng, nh\u1edd v\u1eady g\u00f3p ph\u1ea7n duy tr\u00ec s\u1ef1 \u1ed5n \u0111\u1ecbnh c\u1ee7a gen.<\/p>\n<p>C\u00e1c lo\u1ea1i ung th\u01b0 c\u00f3 li\u00ean quan: Ung th\u01b0 v\u00fa \u1edf n\u1eef, ung th\u01b0 bu\u1ed3ng tr\u1ee9ng v\u00e0 m\u1ed9t s\u1ed1 ung th\u01b0 kh\u00e1c nh\u01b0: ung th\u01b0 ti\u1ec1n li\u1ec7t tuy\u1ebfn, ung th\u01b0 t\u1ee5y, ung th\u01b0 v\u00fa \u1edf nam gi\u1edbi.<\/p>\n<h3>H\u1ed9i ch\u1ee9ng \u0111a polyp c\u00f3 t\u00ednh ch\u1ea5t gia \u0111\u00ecnh (familial adenomatous polyposis \u2013 FAP): [8]<\/h3>\n<p>Do gen APC (adenomatous polyposis coli)<\/p>\n<p>Gen APC mang th\u00f4ng tin di truy\u1ec1n \u0111\u1ec3 t\u1ed5ng h\u1ee3p n\u00ean protein APC \u2013 l\u00e0 m\u1ed9t ch\u1ea5t \u1ee9c ch\u1ebf kh\u1ed1i u, g\u00f3p ph\u1ea7n ng\u0103n ch\u1eb7n t\u1ebf b\u00e0o ph\u00e1t tri\u1ec3n v\u00e0 ph\u00e2n chia kh\u00f4ng ki\u1ec3m so\u00e1t. H\u01a1n 700 \u0111\u1ed9t bi\u1ebfn \u1edf gen APC \u0111\u00e3 \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n c\u00f3 li\u00ean quan \u0111\u1ebfn h\u1ed9i ch\u1ee9ng \u0111a polyp c\u00f3 t\u00ednh ch\u1ea5t gia \u0111\u00ecnh, h\u1ea7u h\u1ebft c\u00e1c \u0111\u1ed9t bi\u1ebfn n\u00e0y s\u1ebd d\u1eabn \u0111\u1ebfn vi\u1ec7c t\u1ed5ng h\u1ee3p n\u00ean protein APC b\u1ea5t th\u01b0\u1eddng. \u0110i\u1ec1u n\u00e0y khi\u1ebfn cho c\u00e1c t\u1ebf b\u00e0o c\u00f3 th\u1ec3 t\u0103ng tr\u01b0\u1edfng v\u00e0 ph\u00e2n chia kh\u00f4ng ki\u1ec3m so\u00e1t, g\u00f3p ph\u1ea7n t\u0103ng nguy c\u01a1 xu\u1ea5t hi\u1ec7n ung th\u01b0.<\/p>\n<p>C\u00e1c lo\u1ea1i ung th\u01b0 c\u00f3 li\u00ean quan: ung th\u01b0 \u0111\u1ea1i tr\u1ef1c tr\u00e0ng, \u0111a polyp l\u00e0nh t\u00ednh \u1edf \u0111\u1ea1i tr\u00e0ng, u l\u00e0nh t\u00ednh ho\u1eb7c \u00e1c t\u00ednh \u1edf ru\u1ed9t non, n\u00e3o, d\u1ea1 d\u00e0y, x\u01b0\u01a1ng, da v\u00e0 c\u00e1c m\u00f4 kh\u00e1c.<\/p>\n<h3>H\u1ed9i ch\u1ee9ng Li-Fraumeni: [9]<\/h3>\n<p>Do gen TP53(tumor protein 53)<\/p>\n<p>Gen TP53 mang th\u00f4ng tin di truy\u1ec1n \u0111\u1ec3 t\u1ed5ng h\u1ee3p n\u00ean protein p53 \u2013 c\u0169ng l\u00e0 m\u1ed9t ch\u1ea5t \u1ee9c ch\u1ebf kh\u1ed1i u. Protein p53 n\u1eb1m trong nh\u00e2n c\u1ee7a t\u1ebf b\u00e0o. Khi DNA c\u1ee7a t\u1ebf b\u00e0o b\u1ecb t\u1ed5n th\u01b0\u01a1ng b\u1edfi c\u00e1c y\u1ebfu t\u1ed1 nh\u01b0: h\u00f3a ch\u1ea5t, ph\u00f3ng x\u1ea1, tia c\u1ef1c t\u00edm t\u1eeb \u00e1nh n\u1eafng m\u1eb7t tr\u1eddi,\u2026 protein n\u00e0y s\u1ebd quy\u1ebft \u0111\u1ecbnh s\u1eeda ch\u1eefa DNA \u0111\u00f3 hay \u0111\u1ec3 t\u1ebf b\u00e0o c\u00f3 DNA l\u1ed7i \u0111\u00f3 r\u01a1i v\u00e0o qu\u00e1 tr\u00ecnh ch\u1ebft theo ch\u01b0\u01a1ng tr\u00ecnh (apoptosis). Do \u0111\u00f3, \u0111\u1ed9t bi\u1ebfn gen TP53 gi\u00e1n ti\u1ebfp l\u00e0m r\u1ed1i lo\u1ea1n qu\u00e1 tr\u00ecnh s\u1eeda ch\u1eefa DNA trong t\u1ebf b\u00e0o, t\u0103ng nguy c\u01a1 h\u00ecnh th\u00e0nh ung th\u01b0.<\/p>\n<p>C\u00e1c lo\u1ea1i ung th\u01b0 c\u00f3 li\u00ean quan: Ung th\u01b0 v\u00fa, sarcoma (ung th\u01b0 bi\u1ec3u m\u00f4 li\u00ean k\u1ebft) m\u00f4 m\u1ec1m, sarcoma x\u01b0\u01a1ng, ung th\u01b0 m\u00e1u v\u00e0 t\u1ee7y x\u01b0\u01a1ng, u n\u00e3o,\u2026<\/p>\n<h3>H\u1ed9i ch\u1ee9ng Cowden: [10]<\/h3>\n<p>Do gen PTEN (phosphatase and tensin homologue)<br \/>\nGen PTEN mang th\u00f4ng tin di truy\u1ec1n t\u1ed5ng h\u1ee3p n\u00ean enzyme PTEN \u2013 c\u0169ng l\u00e0 m\u1ed9t ch\u1ea5t \u1ee9c ch\u1ebf kh\u1ed1i u, \u0111\u01b0\u1ee3c t\u00ecm th\u1ea5y \u1edf h\u1ea7u h\u1ebft c\u00e1c m\u00f4 trong c\u01a1 th\u1ec3. M\u1ed9t s\u1ed1 vai tr\u00f2 c\u1ee7a enzyme PTEN: l\u00e0m bi\u1ebfn \u0111\u1ed5i protein v\u00e0 lipid b\u1eb1ng c\u00e1ch lo\u1ea1i b\u1ecf nh\u00f3m phosphate trong c\u00e1c ph\u00e2n t\u1eed n\u00e0y, tham gia ki\u1ec3m so\u00e1t qu\u00e1 tr\u00ecnh ph\u00e2n chia v\u00e0 t\u1ef1 h\u1ee7y c\u1ee7a t\u1ebf b\u00e0o, gi\u00fap t\u1ebf b\u00e0o t\u0103ng tr\u01b0\u1edfng, b\u00e1m d\u00ednh v\u00e0o m\u00f4 xung quanh, g\u00f3p ph\u1ea7n h\u00ecnh th\u00e0nh m\u1ea1ch m\u00e1u t\u00e2n sinh, duy tr\u00ec t\u00ednh \u1ed5n \u0111\u1ecbnh v\u1eadt ch\u1ea5t di truy\u1ec1n. T\u1ea5t c\u1ea3 nh\u1eefng vai tr\u00f2 n\u00eau tr\u00ean \u0111\u1ec1u g\u00f3p ph\u1ea7n ng\u0103n ch\u1eb7n s\u1ef1 t\u0103ng sinh kh\u00f4ng ki\u1ec3m so\u00e1t c\u1ee7a t\u1ebf b\u00e0o ung th\u01b0.<br \/>\nC\u00e1c lo\u1ea1i ung th\u01b0 c\u00f3 li\u00ean quan: Ung th\u01b0 v\u00fa, ung th\u01b0 tuy\u1ebfn gi\u00e1p, ung th\u01b0 n\u1ed9i m\u1ea1c t\u1eed cung,\u2026<\/p>\n<h3>H\u1ed9i ch\u1ee9ng Lynch: [11]<\/h3>\n<p>Do c\u00e1c gen: MSH2, MSH6, MLH1, PMS2, EPCAM (epithelial cellular adhesion molecule).<\/p>\n<p>C\u00e1c gen n\u00e0y mang th\u00f4ng tin di truy\u1ec1n \u0111\u1ec3 t\u1ed5ng h\u1ee3p n\u00ean c\u00e1c protein t\u01b0\u01a1ng \u1ee9ng c\u00f9ng t\u00ean. Protein MSH2 v\u00e0 MSH6 c\u00f3 vai tr\u00f2 trong t\u1ea1o ph\u1ee9c h\u1ee3p nh\u1eadn di\u1ec7n v\u1ecb tr\u00ed DNA b\u1ecb l\u1ed7i trong qu\u00e1 tr\u00ecnh ph\u00e2n chia. Sau \u0111\u00f3 protein MLH1 v\u00e0 PMS2 t\u1ea1o n\u00ean ph\u1ee9c h\u1ee3p \u0111\u1ec3 s\u1eeda ch\u1eefa l\u1ed7i sai \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n. Protein EpCAM \u0111\u01b0\u1ee3c t\u00ecm th\u1ea5y \u1edf t\u1ebf b\u00e0o bi\u1ec3u m\u00f4 (l\u00e0 nh\u1eefng t\u1ebf b\u00e0o l\u00f3t \u1edf c\u00e1c b\u1ec1 m\u1eb7t v\u00e0 khoang c\u01a1 th\u1ec3) gi\u00fap g\u1eafn k\u1ebft c\u00e1c t\u1ebf b\u00e0o n\u00e0y l\u1ea1i v\u1edbi nhau. Protein n\u00e0y tham gia t\u1ea1o th\u00e0nh ph\u1ee9c h\u1ee3p c\u00f3 vai tr\u00f2 trong t\u0103ng tr\u01b0\u1edfng, ph\u00e2n chia v\u00e0 bi\u1ec7t h\u00f3a c\u1ee7a t\u1ebf b\u00e0o.<\/p>\n<p>C\u00e1c lo\u1ea1i ung th\u01b0 c\u00f3 li\u00ean quan: Ung th\u01b0 \u0111\u1ea1i tr\u1ef1c tr\u00e0ng, ung th\u01b0 n\u1ed9i m\u1ea1c t\u1eed cung, ung th\u01b0 bu\u1ed3ng tr\u1ee9ng, ung th\u01b0 th\u1eadn, ung th\u01b0 t\u1ee5y, ung th\u01b0 ru\u1ed9t non, ung th\u01b0 gan-m\u1eadt, ung th\u01b0 d\u1ea1 d\u00e0y v\u00e0 ung th\u01b0 v\u00fa.<\/p>\n<h2>Th\u00f4ng tin 7: K\u1ebft qu\u1ea3 x\u00e9t nghi\u1ec7m gen n\u00ean \u0111\u01b0\u1ee3c l\u00fd gi\u1ea3i m\u1ed9t c\u00e1ch \u0111\u00fang \u0111\u1eafn t\u1eeb nh\u1eefng ng\u01b0\u1eddi c\u00f3 chuy\u00ean m\u00f4n [7]<\/h2>\n<p>N\u1ebfu x\u00e9t nghi\u1ec7m gen d\u01b0\u01a1ng t\u00ednh c\u00f3 ngh\u0129a l\u00e0 \u0111\u00e3 t\u00ecm th\u1ea5y m\u1ed9t \u0111\u1ed9t bi\u1ebfn gen \u0111\u1eb7c hi\u1ec7u n\u00e0o \u0111\u00f3. T\u00f9y v\u00e0o gen \u0111\u01b0\u1ee3c x\u00e9t nghi\u1ec7m m\u00e0 k\u1ebft qu\u1ea3 n\u00e0y c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c gi\u1ea3i th\u00edch:<\/p>\n<ul>\n<li>X\u00e1c nh\u1eadn ch\u1ea9n \u0111o\u00e1n \u0111\u1ed1i v\u1edbi m\u1ed9t h\u1ed9i ch\u1ee9ng ung th\u01b0 di truy\u1ec1n, ngh\u0129a l\u00e0 \u0111\u1ed9t bi\u1ebfn n\u00e0y c\u00f3 li\u00ean quan \u0111\u1ebfn m\u1ed9t h\u1ed9i ch\u1ee9ng di truy\u1ec1n li\u00ean quan \u0111\u1ebfn nhi\u1ec1u b\u1ec7nh ung th\u01b0 nh\u01b0 \u0111\u00e3 n\u00f3i \u1edf tr\u00ean. \u0110\u1ed9t bi\u1ebfn gen n\u00e0y l\u00e0m t\u0103ng kh\u1ea3 n\u0103ng m\u1eafc m\u1ed9t lo\u1ea1i ung th\u01b0 n\u00e0o \u0111\u00f3 trong t\u01b0\u01a1ng lai. Qua \u0111\u00f3 h\u01b0\u1edbng \u0111\u1ebfn th\u1ef1c hi\u1ec7n th\u00eam nh\u1eefng x\u00e9t nghi\u1ec7m ph\u00e1t hi\u1ec7n s\u1edbm hay bi\u1ec7n ph\u00e1p l\u00e0m gi\u1ea3m nguy c\u01a1 m\u1eafc c\u00e1c lo\u1ea1i ung th\u01b0 c\u00f3 li\u00ean quan cho b\u1ea3n th\u00e2n ng\u01b0\u1eddi b\u1ec7nh v\u00e0 ng\u01b0\u1eddi th\u00e2n trong gia \u0111\u00ecnh.<\/li>\n<li>\u0110\u1ed1i v\u1edbi ng\u01b0\u1eddi \u0111\u00e3 \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n ung th\u01b0, \u0111\u1ed9t bi\u1ebfn gen n\u00e0y c\u00f3 th\u1ec3 gi\u00fap bi\u1ebft \u0111\u01b0\u1ee3c hi\u1ec7u qu\u1ea3 c\u1ee7a m\u1ed9t ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb n\u00e0o \u0111\u00f3 (th\u01b0\u1eddng l\u00e0 \u0111i\u1ec1u tr\u1ecb nh\u1eafm tr\u00fang \u0111\u00edch) qua \u0111\u00f3 x\u00e1c \u0111\u1ecbnh c\u00f3 n\u00ean s\u1eed d\u1ee5ng ph\u01b0\u01a1ng ph\u00e1p \u0111\u00f3 hay kh\u00f4ng .<\/li>\n<\/ul>\n<p>N\u1ebfu x\u00e9t nghi\u1ec7m gen \u00e2m t\u00ednh c\u00f3 ngh\u0129a l\u00e0 kh\u00f4ng t\u00ecm th\u1ea5y \u0111\u1ed9t bi\u1ebfn gen nghi ng\u1edd n\u00e0o \u0111\u00f3. N\u1ebfu gen \u0111\u01b0\u1ee3c x\u00e9t nghi\u1ec7m c\u00f3 li\u00ean quan \u0111\u1ebfn c\u00e1c h\u1ed9i ch\u1ee9ng di truy\u1ec1n th\u00ec c\u00f3 ngh\u0129a l\u00e0 c\u00e1c th\u00e0nh vi\u00ean trong gia \u0111\u00ecnh \u0111\u00e3 \u0111\u01b0\u1ee3c l\u00e0m x\u00e9t nghi\u1ec7m gen s\u1ebd kh\u00f4ng mang \u0111\u1ed9t bi\u1ebfn gen li\u00ean quan \u0111\u1ebfn c\u00e1c ung th\u01b0 n\u00e0y. Tuy nhi\u00ean, \u0111i\u1ec1u n\u00e0y kh\u00f4ng c\u00f3 ngh\u0129a l\u00e0 nh\u1eefng ng\u01b0\u1eddi n\u00e0y s\u1ebd kh\u00f4ng c\u00f3 nguy c\u01a1 m\u1eafc nh\u1eefng lo\u1ea1i ung th\u01b0 \u0111\u00f3, m\u00e0 h\u1ecd s\u1ebd c\u00f3 nguy c\u01a1 t\u01b0\u01a1ng t\u1ef1 nh\u1eefng ng\u01b0\u1eddi b\u00ecnh th\u01b0\u1eddng trong d\u00e2n s\u1ed1 chung. C\u00f2n \u0111\u1ed1i v\u1edbi tr\u01b0\u1eddng h\u1ee3p \u0111\u00e3 \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n ung th\u00ec l\u00fd gi\u1ea3i nh\u01b0 tr\u01b0\u1eddng h\u1ee3p tr\u00ean.<\/p>\n<p>T\u00f3m l\u1ea1i, vi\u1ec7c gi\u1ea3i th\u00edch k\u1ebft qu\u1ea3 x\u00e9t nghi\u1ec7m gen ph\u1ea3i do c\u00e1c b\u00e1c s\u0129 c\u00f3 chuy\u00ean m\u00f4n \u0111\u1ea3m nh\u1eadn, \u0111\u00f4i khi c\u1ea7n ph\u1ea3i k\u1ebft h\u1ee3p v\u1edbi nhi\u1ec1u th\u00f4ng tin kh\u00e1c \u0111\u1ec3 c\u00f3 c\u00e2u tr\u1ea3 l\u1eddi m\u1ed9t c\u00e1ch ho\u00e0n ch\u1ec9nh nh\u1ea5t nh\u1eb1m tr\u00e1nh hoang mang, lo l\u1eafng kh\u00f4ng c\u1ea7n thi\u1ebft.<\/p>\n<h2>Th\u00f4ng tin 8: X\u00e9t nghi\u1ec7m gen c\u0169ng c\u00f3 c\u00e1c \u01b0u v\u00e0 nh\u01b0\u1ee3c \u0111i\u1ec3m [12]<\/h2>\n<h3>\u01afu \u0111i\u1ec3m:<\/h3>\n<p>Khi ph\u00e1t hi\u1ec7n ra \u0111\u1ed9t bi\u1ebfn gen li\u00ean quan \u0111\u1ebfn m\u1ed9t h\u1ed9i ch\u1ee9ng ung th\u01b0 di truy\u1ec1n, t\u1eeb \u0111\u00f3 c\u00f3 th\u1ec3 th\u1ef1c hi\u1ec7n c\u00e1c bi\u1ec7n ph\u00e1p ph\u00f2ng ng\u1eeba, t\u1ea7m so\u00e1t \u0111\u1ec3 l\u00e0m gi\u1ea3m nguy c\u01a1 xu\u1ea5t hi\u1ec7n c\u00e1c ung th\u01b0 li\u00ean quan. V\u00ed d\u1ee5: thay \u0111\u1ed5i l\u1ed1i s\u1ed1ng, th\u00f3i quen sinh ho\u1ea1t hay th\u1ef1c hi\u1ec7n c\u00e1c x\u00e9t nghi\u1ec7m c\u1ea7n thi\u1ebft th\u01b0\u1eddng xuy\u00ean h\u01a1n \u0111\u1ec3 ph\u00e1t hi\u1ec7n s\u1edbm ung th\u01b0 nh\u1eb1m \u0111\u1ea1t k\u1ebft qu\u1ea3 \u0111i\u1ec1u tr\u1ecb t\u1ed1t nh\u1ea5t.<\/p>\n<p>X\u00e1c \u0111\u1ecbnh m\u1ed9t s\u1ed1 \u0111\u1ed9t bi\u1ebfn gen \u1edf b\u1ec7nh nh\u00e2n \u0111\u00e3 \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n ung th\u01b0 nh\u1eb1m h\u1ed7 tr\u1ee3 cho vi\u1ec7c \u0111i\u1ec1u tr\u1ecb v\u00e0 ti\u00ean l\u01b0\u1ee3ng.<\/p>\n<p>N\u1ebfu k\u1ebft qu\u1ea3 \u00e2m t\u00ednh, b\u1ea1n s\u1ebd y\u00ean t\u00e2m h\u01a1n v\u00e0 tr\u00e1nh nh\u1eefng lo l\u1eafng kh\u00f4ng c\u1ea7n thi\u1ebft c\u00f3 th\u1ec3 \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn ch\u1ea5t l\u01b0\u1ee3ng s\u1ed1ng c\u1ee7a m\u00ecnh.<\/p>\n<h3>Nh\u01b0\u1ee3c \u0111i\u1ec3m:<\/h3>\n<p>Chi ph\u00ed cao.<\/p>\n<p>Th\u1eddi gian nh\u1eadn k\u1ebft qu\u1ea3 l\u00e2u (c\u00f3 th\u1ec3 m\u1ea5t nhi\u1ec1u tu\u1ea7n \u0111\u1ebfn h\u00e0ng th\u00e1ng).<\/p>\n<p>N\u1ebfu k\u1ebft qu\u1ea3 d\u01b0\u01a1ng t\u00ednh v\u1edbi \u0111\u1ed9t bi\u1ebfn gen li\u00ean quan \u0111\u1ebfn m\u1ed9t h\u1ed9i ch\u1ee9ng ung th\u01b0 di truy\u1ec1n n\u00e0o \u0111\u00f3, s\u1ebd l\u00e0m t\u0103ng s\u1ef1 lo l\u1eafng k\u00e9o d\u00e0i cho ng\u01b0\u1eddi l\u00e0m x\u00e9t nghi\u1ec7m v\u00e0 c\u00e1c th\u00e0nh vi\u00ean kh\u00e1c trong gia \u0111\u00ecnh, d\u00f9 k\u1ebft qu\u1ea3 ch\u1ec9 ph\u1ea3n \u00e1nh nguy c\u01a1 c\u1ee7a ung th\u01b0 ch\u1ee9 kh\u00f4ng th\u1ef1c s\u1ef1 k\u1ebft lu\u1eadn ng\u01b0\u1eddi \u0111\u00f3 m\u1eafc ung th\u01b0.<\/p>\n<h2>Th\u00f4ng tin 9: Kh\u00f4ng ph\u1ea3i ai c\u0169ng c\u1ea7n th\u1ef1c hi\u1ec7n x\u00e9t nghi\u1ec7m gen:[5]<\/h2>\n<p>X\u00e9t nghi\u1ec7m gen kh\u00f4ng ph\u1ea3i l\u00e0 x\u00e9t nghi\u1ec7m t\u1ea7m so\u00e1t ung th\u01b0 cho t\u1ea5t c\u1ea3 m\u1ecdi ng\u01b0\u1eddi. ch\u1ec9 m\u1ed9t s\u1ed1 ng\u01b0\u1eddi \u0111\u01b0\u1ee3c xem l\u00e0 c\u00f3 kh\u1ea3 n\u0103ng cao m\u1eafc m\u1ed9t ung th\u01b0 n\u00e0o \u0111\u00f3 m\u1edbi n\u00ean th\u1ef1c hi\u1ec7n.<\/p>\n<p>Do \u0111\u00f3, n\u1ebfu b\u1ea1n g\u1eb7p ph\u1ea3i b\u1ea5t k\u1ef3 t\u00ecnh hu\u1ed1ng n\u00e0o d\u01b0\u1edbi \u0111\u00e2y, c\u00f3 th\u1ec3 c\u00e2n nh\u1eafc \u0111\u1ebfn vi\u1ec7c th\u1ef1c hi\u1ec7n x\u00e9t nghi\u1ec7m gen:<\/p>\n<p>C\u00f3 m\u1ed9t v\u00e0i ng\u01b0\u1eddi th\u00e2n trong gia \u0111\u00ecnh (ba, m\u1eb9, anh, ch\u1ecb, em, con c\u00e1i) c\u00f9ng m\u1eafc ung th\u01b0.<\/p>\n<p>Nhi\u1ec1u ng\u01b0\u1eddi th\u00e2n c\u00f3 quan h\u1ec7 huy\u1ebft th\u1ed1ng (trong h\u1ecd n\u1ed9i ho\u1eb7c h\u1ecd ngo\u1ea1i) m\u1eafc c\u00f9ng m\u1ed9t lo\u1ea1i ung th\u01b0.<\/p>\n<p>Trong gia \u0111\u00ecnh c\u00f3 ng\u01b0\u1eddi m\u1eafc ung th\u01b0 v\u00fa, ung th\u01b0 bu\u1ed3ng tr\u1ee9ng hay ung th\u01b0 t\u1ee5y.<\/p>\n<p>M\u1ed9t ng\u01b0\u1eddi trong gia \u0111\u00ecnh m\u1eafc nhi\u1ec1u h\u01a1n m\u1ed9t lo\u1ea1i ung th\u01b0.<\/p>\n<p>Trong gia \u0111\u00ecnh c\u00f3 ng\u01b0\u1eddi m\u1eafc ung th\u01b0 \u1edf \u0111\u1ed9 tu\u1ed5i tr\u1ebb h\u01a1n so v\u1edbi tu\u1ed5i th\u01b0\u1eddng th\u1ea5y c\u1ee7a lo\u1ea1i ung th\u01b0 \u0111\u00f3.<\/p>\n<p>C\u00f3 ng\u01b0\u1eddi th\u00e2n m\u1eafc c\u00e1c lo\u1ea1i ung th\u01b0 li\u00ean quan v\u1edbi c\u00e1c h\u1ed9i ch\u1ee9ng di truy\u1ec1n hi\u1ebfm g\u1eb7p.<br \/>\nM\u1ed9t th\u00e0nh vi\u00ean trong gia \u0111\u00ecnh m\u1eafc m\u1ed9t lo\u1ea1i ung th\u01b0 hi\u1ebfm g\u1eb7p. V\u00ed d\u1ee5: Ung th\u01b0 v\u00fa \u1edf nam gi\u1edbi hay u nguy\u00ean b\u00e0o v\u00f5ng m\u1ea1c \u1edf tr\u1ebb em.<\/p>\n<p>Ph\u00e1t hi\u1ec7n m\u1ed9t b\u1ea5t th\u01b0\u1eddng c\u00f3 li\u00ean h\u1ec7 v\u1edbi m\u1ed9t lo\u1ea1i ung th\u01b0 c\u00f3 t\u00ednh di truy\u1ec1n. V\u00ed d\u1ee5: C\u00f3 nhi\u1ec1u polyp \u1edf \u0111\u1ea1i tr\u00e0ng.<\/p>\n<p>Ph\u00e1t hi\u1ec7n \u0111\u1ed9t bi\u1ebfn gen \u1edf m\u1ed9t trong s\u1ed1 c\u00e1c th\u00e0nh vi\u00ean gia \u0111\u00ecnh.<\/p>\n<h2>Th\u00f4ng tin 10: X\u00e9t nghi\u1ec7m gen h\u1ee9a h\u1eb9n nhi\u1ec1u ti\u1ec1m n\u0103ng trong t\u01b0\u01a1ng lai.<\/h2>\n<p>Nh\u1edd s\u1ef1 ph\u00e1t tri\u1ec3n c\u1ee7a di truy\u1ec1n h\u1ecdc n\u00f3i chung v\u00e0 x\u00e9t nghi\u1ec7m gen trong ung th\u01b0 n\u00f3i ri\u00eang, c\u00e1c b\u1ec7nh l\u00fd ung th\u01b0 c\u00f3 t\u00ednh ch\u1ea5t di truy\u1ec1n ng\u00e0y c\u00e0ng \u0111\u01b0\u1ee3c bi\u1ebft \u0111\u1ebfn nhi\u1ec1u h\u01a1n. \u0110i\u1ec1u n\u00e0y g\u00f3p ph\u1ea7n quan tr\u1ecdng cho vi\u1ec7c ch\u1ea9n \u0111o\u00e1n s\u1edbm v\u00e0 \u0111i\u1ec1u tr\u1ecb hi\u1ec7u qu\u1ea3 ngay t\u1eeb \u0111\u1ea7u c\u00e1c b\u1ec7nh l\u00fd ung th\u01b0 nh\u1eb1m l\u00e0m gi\u1ea3m g\u00e1nh n\u1eb7ng v\u1ec1 kinh t\u1ebf c\u0169ng nh\u01b0 s\u1ee9c kh\u1ecfe cho c\u1ed9ng \u0111\u1ed3ng.<\/p>\n<p>M\u1ed9t trong s\u1ed1 nh\u1eefng h\u01b0\u1edbng \u0111i ti\u1ebfp theo trong x\u00e9t nghi\u1ec7m gen l\u00e0 nh\u1eb1m c\u1ea3i ti\u1ebfn v\u1ec1 k\u1ef9 thu\u1eadt \u0111\u1ec3 t\u0103ng kh\u1ea3 n\u0103ng ph\u00e1t hi\u1ec7n nh\u1eefng \u0111\u1ed9t bi\u1ebfn m\u1edbi li\u00ean quan \u0111\u1ebfn ung th\u01b0, c\u0169ng nh\u01b0 h\u1ea1 chi ph\u00ed v\u00e0 r\u00fat ng\u1eafn th\u1eddi gian ch\u1edd \u0111\u1ee3i k\u1ebft qu\u1ea3 x\u00e9t nghi\u1ec7m.<\/p>\n<p>Vi\u1ec7c gi\u1ea3i tr\u00ecnh t\u1ef1 b\u1ed9 gen ng\u01b0\u1eddi \u0111\u00e3 v\u00e0 \u0111ang \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n t\u1ea1i m\u1ed9t v\u00e0i qu\u1ed1c gia tr\u00ean th\u1ebf gi\u1edbi. H\u1ee9a h\u1eb9n nh\u1eefng b\u01b0\u1edbc \u0111\u1ed9t ph\u00e1 quan tr\u1ecdng trong vi\u1ec7c d\u1ef1 ph\u00f2ng, ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb, kh\u00f4ng ch\u1ec9 \u0111\u1ed1i v\u1edbi ung th\u01b0 m\u00e0 c\u00f2n \u0111\u1ed1i v\u1edbi nhi\u1ec1u b\u1ec7nh l\u00fd di truy\u1ec1n kh\u00e1c.<\/p>\n<h2>Ngu\u1ed3n t\u00e0i li\u1ec7u tham kh\u1ea3o:<\/h2>\n[1] What is a gene?<\/p>\n<p><a href=\"https:\/\/ghr.nlm.nih.gov\/primer\/basics\/gene\" rel=\"noopener\">https:\/\/ghr.nlm.nih.gov\/primer\/basics\/gene<\/a><\/p>\n[2] What is a gene mutation and how do mutations occur?\u00a0<a href=\"https:\/\/ghr.nlm.nih.gov\/primer\/mutationsanddisorders\/genemutation\" rel=\"noopener\">https:\/\/ghr.nlm.nih.gov\/primer\/mutationsanddisorders\/genemutation<\/a><\/p>\n[3] Genetic testing for cancer in families: An Expert Q&amp;A:\u00a0<a href=\"https:\/\/www.cancer.net\/blog\/2018-11\/genetic-testing-cancer-families-expert-qa\" rel=\"noopener\">https:\/\/www.cancer.net\/blog\/2018-11\/genetic-testing-cancer-families-expert-qa<\/a><\/p>\n[4] Prostate cancer panel: <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/tests\/530424\/\" rel=\"noopener\">https:\/\/www.ncbi.nlm.nih.gov\/gtr\/tests\/530424\/<\/a><\/p>\n[5] Understanding Genetic Testing for Cancer<\/p>\n<p><a href=\"https:\/\/www.cancer.org\/cancer\/cancer-causes\/genetics\/understanding-genetic-testing-for-cancer.html\" rel=\"noopener\">https:\/\/www.cancer.org\/cancer\/cancer-causes\/genetics\/understanding-genetic-testing-for-cancer.html<\/a><\/p>\n[6] EGFR mutation testing in non-small cell lung cancer (NSCLC):\u00a0<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23244184\" rel=\"noopener\">https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23244184<\/a><\/p>\n[7] Genetic Testing for Hereditary Cancer Syndromes:<br \/>\n<a href=\"https:\/\/www.cancer.gov\/about-cancer\/causes-prevention\/genetics\/genetic-testing-fact-sheet\" rel=\"noopener\">https:\/\/www.cancer.gov\/about-cancer\/causes-prevention\/genetics\/genetic-testing-fact-sheet<\/a><\/p>\n[8] APC gene: <a href=\"https:\/\/ghr.nlm.nih.gov\/gene\/APC#resources\" rel=\"noopener\">https:\/\/ghr.nlm.nih.gov\/gene\/APC#resources<\/a><\/p>\n[9] TP53 gene: <a href=\"https:\/\/ghr.nlm.nih.gov\/gene\/TP53\" rel=\"noopener\">https:\/\/ghr.nlm.nih.gov\/gene\/TP53<\/a><\/p>\n[10] PTEN gene: <a href=\"https:\/\/ghr.nlm.nih.gov\/gene\/PTEN\" rel=\"noopener\">https:\/\/ghr.nlm.nih.gov\/gene\/PTEN<\/a><\/p>\n[11] EPCAM gene: <a href=\"https:\/\/ghr.nlm.nih.gov\/gene\/EPCAM\" rel=\"noopener\">https:\/\/ghr.nlm.nih.gov\/gene\/EPCAM<\/a><\/p>\n[12] Genetic testing for cancer risk:<br \/>\n<a href=\"https:\/\/www.cancerresearchuk.org\/about-cancer\/causes-of-cancer\/inherited-cancer-genes-and-increased-cancer-risk\/genetic-testing-for-cancer-risk\" rel=\"noopener\">https:\/\/www.cancerresearchuk.org\/about-cancer\/causes-of-cancer\/inherited-cancer-genes-and-increased-cancer-risk\/genetic-testing-for-cancer-risk<\/a><\/p>\n<p>Ch\u1ecbu tr\u00e1ch nhi\u1ec7m n\u1ed9i dung: B\u00e1c s\u0129 L\u00ea Nho Qu\u1ed1c<\/p>\n<p>C\u1ed1 v\u1ea5n y h\u1ecdc: ThS.BS. Nguy\u1ec5n Tr\u01b0\u01a1ng \u0110\u1ee9c Ho\u00e0ng &#8211; Ruy B\u0103ng T\u00edm.<\/p>\n<p>Xem x\u00e9t l\u1ea7n cu\u1ed1i: 22\/4\/2019.<\/p>\n<p>LInk b\u00e0i vi\u1ebft:\u00a0<a href=\"https:\/\/www.hmm88i.com\/drug\/2019\/04\/10-thong-tin-nen-biet-ve-xet-nghiem-gen-trong-ung-thu.html\">10 th\u00f4ng tin n\u00ean bi\u1ebft v\u1ec1 x\u00e9t nghi\u1ec7m gen trong ung th\u01b0<\/a><\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Th\u00f4ng tin 1: M\u1ed7i ng\u01b0\u1eddi c\u00f3 kho\u1ea3ng 20.000 \u0111\u1ebfn 25.000 gen: [1] Gen l\u00e0 m\u1ed9t \u0111o\u1ea1n c\u1ee7a ph\u00e2n t\u1eed DNA (deoxyribonucleic acid), l\u00e0 \u0111\u01a1n v\u1ecb c\u1ea5u tr\u00fac v\u00e0 ch\u1ee9c n\u0103ng c\u01a1 b\u1ea3n c\u1ee7a di truy\u1ec1n. T\u1eeb c\u00e1c th\u00f4ng tin di truy\u1ec1n ch\u1ee9a trong gen, t\u1ebf b\u00e0o c\u01a1 th\u1ec3 s\u1ebd t\u1ed5ng h\u1ee3p n\u00ean c\u00e1c protein c\u1ea7n [&#8230;]\n","protected":false},"author":1,"featured_media":8328,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-8320","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-y-te-suc-khoe"],"acf":[],"_links":{"self":[{"href":"https:\/\/hmm88i.com\/drug\/wp-json\/wp\/v2\/posts\/8320","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/hmm88i.com\/drug\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/hmm88i.com\/drug\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/hmm88i.com\/drug\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/hmm88i.com\/drug\/wp-json\/wp\/v2\/comments?post=8320"}],"version-history":[{"count":0,"href":"https:\/\/hmm88i.com\/drug\/wp-json\/wp\/v2\/posts\/8320\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/hmm88i.com\/drug\/wp-json\/wp\/v2\/media\/8328"}],"wp:attachment":[{"href":"https:\/\/hmm88i.com\/drug\/wp-json\/wp\/v2\/media?parent=8320"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/hmm88i.com\/drug\/wp-json\/wp\/v2\/categories?post=8320"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/hmm88i.com\/drug\/wp-json\/wp\/v2\/tags?post=8320"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}