|
 
- 积分
- 455
- 威望
- 455
- 包包
- 554
|
本帖最后由 细胞海洋 于 2010-6-19 19:00 编辑
]* M' a% T* B5 Q# j$ `
4 E' j0 M. T; j: R5 }" t# u' P7 X. A1 d2 O
Cancer genetics is a rapidly evolving field, which has revolutionized the practice
2 h- C1 n; ^' `+ `: P4 ~6 ]of medicine in the past decade. Genetic testing for several high-penetrance tumor
- c# u) J7 J4 p$ Osusceptibility genes such as BRCA1, BRCA2, and APC have allowed the identification
# p, ?6 A0 O( _( Nof individuals at high risk for breast and colon cancers that can be effectively) W) u. @! l' B/ V
prevented with early screening.. M: p- U( p( f, v
Somatically acquired genetic changes such as overexpression of the ERBB2 gene
) j# ?; T3 f q5 I$ @3 V& jin breast cancer and mutations of the KRAS or BRAF genes in colorectal cancer
& G# o$ P% I: [' J! {0 kare observed in a significant fraction of patients. These genetic alterations can be. R3 Y# q& R6 L+ ^, d
effectively targeted with antibodies such as trastuzumab and cetuximab. Treatment& } e1 d* v' ^9 A. g- k7 E
with these genetically targeted agents increases patient survival.
3 R9 b: t2 g: B1 u+ j/ mBecause genetic information allows for the exact identification of individuals, T, I6 [) r+ M% h
the widespread expansion of genetic testing is potentially fraught with ethical and8 Q4 p h6 y9 Z& a
legal issues. The first chapter of this book, which is written by Drs. Offit and Thom,
9 p4 L( M! V9 e( d6 }; L8 Xprovides an insightful overview of the ethical aspects of cancer genetics.
- m1 v; s6 A& N8 c3 R8 eSystematic studies of common genetic variants are facilitated by the fact that: T- B% r; D4 ~* M
individuals who carry a particular SNP allele at one site often predictably carry specific8 S8 f: T6 ?$ Y# l8 O( A, t
alleles at other nearby sites. This correlation is known as linkage disequilibrium, X, Y+ X, f% R A3 H: t5 h
(LD); a particular combination of alleles along a chromosome is termed a haplotype.) u# h9 S5 v- Y9 |$ ^7 t
The correlations between causal mutations and the haplotypes on which they arose& C+ g' i T) `. ]- u$ _* _8 p
have long served as a tool for human genetic research: first finding an association to
: O6 K" ^. ?8 z" ea haplotype and then subsequently identifying the causal mutation(s) that it carries.
2 q0 S+ |' v( c6 R. S& w* eWith the sequencing of the human genome and development of high-throughput. Y" v* v0 F. O& Q+ B& y1 T
genomic methods, it has become clear that the human genome generally displays
6 p+ T8 u; Z6 U9 ymore LD than under simple population genetic models, and that LD is more varied( i2 d7 c5 _5 z5 @5 y
across regions, and more segmentally structured, than had previously been supposed.
0 O& V- R1 W- k; {5 T$ A: RThese observations indicated that LD-based methods would generally have a
- p G7 k) m: vgreat value (because nearby SNPs were typically correlated with many of the neighbors)," y. T1 R7 S7 m$ n( L
and also that LD relationships would need to be empirically determined across the genome by studying polymorphisms at high density in population samples. This
7 J7 ~, D: o# c6 k7 `/ mhas provided the rationale for the development of the International HapMap project S' f$ P$ x5 @: O7 w: l
(www.hapmap.org). Novel genotyping technologies combined with the knowledge
8 E2 A) _3 v; \+ |. lgenerated by the HapMap project have provided the necessary tools to interrogate
. S$ b2 Y6 O# D3 Y1 F: l u0 Fthe association of genetic variants from the entire genome with risk for various diseases.# r# Q0 y6 X' n
The influence of such common polymorphisms on breast cancer, one of the8 W7 \, ]' ]/ X3 u
leading causes of cancer death, is thoroughly reviewed in the second chapter written7 W7 F- T) Y) j! H! V0 J1 [
by Drs. Eccles and Tapper.
0 ^; }; M; A6 E3 A5 J3 y( {In the third chapter, Drs. Schrader and Huntsman provide the latest genetic
) J6 h+ j7 J7 K0 N5 ~knowledge related to gastric cancer and focus on genetic cause, identification, and+ u, Z5 t) y8 i1 O+ { h/ m
management of a rare but deadly syndrome, hereditary gastric cancer.1 ~# t+ ~" b0 Q: i
Recent advances in cancer genetics are not limited to adult tumors. In the
5 e( j' I! [# ^1 R) f9 Dfourth chapter, Drs. Capasso and Diskin provide a timely update on the recent and0 T$ }+ M9 t f7 R
exciting genetic discoveries related to one of the most common pediatric cancer,# u4 {6 F. }4 j' G Q/ w
neuroblastoma.+ a& F# H/ u* l* C6 H" B/ t
In the fifth and last chapter, Drs. Bellam and Pasche review the latest discoveries& }# ]9 ]' x' P1 n; l) g
related to constitutively altered TGF-β signaling in colorectal cancer risk, a novel
1 Z" }* T; B* X; S" l4 _+ uphenotype that may account for a large proportion of colorectal cancers.
4 Q: b1 {( Z5 o7 d) r% p
, d5 i+ x9 h5 `1 A& l[hide][/hide] |
附件: 你需要登录才可以下载或查看附件。没有帐号？注册
-
总评分: 威望 + 10
包包 + 10
查看全部评分
|
发表于 2010-6-19 18:43
发表于 2010-6-20 10:03
