PDF电子书：cancer genetics

lifescience1

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Cancer genetics is a rapidly evolving field, which has revolutionized the practice& d" J+ B6 k( @/ ?
of medicine in the past decade. Genetic testing for several high-penetrance tumor
! X9 M! x/ q- O3 psusceptibility genes such as BRCA1, BRCA2, and APC have allowed the identification6 x$ v/ F; h" L  h% P
of individuals at high risk for breast and colon cancers that can be effectively  E& G# k* x' u  i$ C7 h/ a
prevented with early screening./ y4 F. Z( ]1 E- A# a2 X+ {
Somatically acquired genetic changes such as overexpression of the ERBB2 gene
0 d: `+ r+ ?& j- h6 t  U8 Tin breast cancer and mutations of the KRAS or BRAF genes in colorectal cancer
& y/ V$ Y0 w, p) A: _* Y$ |& g9 mare observed in a significant fraction of patients. These genetic alterations can be
' k) V% f! p/ Z/ b  a6 ?3 Qeffectively targeted with antibodies such as trastuzumab and cetuximab. Treatment
; B+ a+ T* z* |8 w! m8 Mwith these genetically targeted agents increases patient survival.
; Z& q4 O; c( X; `Because genetic information allows for the exact identification of individuals,
) a) b0 n- M; K: Ithe widespread expansion of genetic testing is potentially fraught with ethical and
2 b0 Q  G+ l3 r$ b" ]2 o0 `5 i  N' Llegal issues. The first chapter of this book, which is written by Drs. Offit and Thom,
1 p  V+ K+ y" o* z3 d# Wprovides an insightful overview of the ethical aspects of cancer genetics.
) _6 A9 ~! h- A) P) h/ g9 lSystematic studies of common genetic variants are facilitated by the fact that. `' u/ L4 v! ^
individuals who carry a particular SNP allele at one site often predictably carry specific
6 P, |$ i1 K+ O2 _  p/ ~alleles at other nearby sites. This correlation is known as linkage disequilibrium
8 q" K& ~# t+ @, J(LD); a particular combination of alleles along a chromosome is termed a haplotype.
. v7 @: H. V. k$ C; W7 WThe correlations between causal mutations and the haplotypes on which they arose
6 o' ?/ b/ |: K/ \have long served as a tool for human genetic research: first finding an association to
. e4 G! V$ }( ~4 C9 I4 ]) I8 Ba haplotype and then subsequently identifying the causal mutation(s) that it carries.* A$ a0 I. \8 P3 i! K
With the sequencing of the human genome and development of high-throughput4 C: R5 ?& R! J& ]# b. Y
genomic methods, it has become clear that the human genome generally displays, |3 D5 u7 s1 y* W9 Y0 n% y
more LD than under simple population genetic models, and that LD is more varied
1 r6 w9 O' R1 O9 x! Macross regions, and more segmentally structured, than had previously been supposed.- r+ a/ ~0 j. y0 W1 J
These observations indicated that LD-based methods would generally have a- Z: n) u: d" C- @
great value (because nearby SNPs were typically correlated with many of the neighbors),! h: y8 N6 Q) {0 b$ ~
and also that LD relationships would need to be empirically determined across the genome by studying polymorphisms at high density in population samples. This
- ]' f8 r; _+ k8 ^0 W& uhas provided the rationale for the development of the International HapMap project/ B7 f' a) }  D- [% v4 c9 o5 S
(www.hapmap.org). Novel genotyping technologies combined with the knowledge; I0 D; ]' }0 ]. O
generated by the HapMap project have provided the necessary tools to interrogate- V( V0 _7 E/ A' z! K9 Z6 I
the association of genetic variants from the entire genome with risk for various diseases.
9 u" b1 {" z- i% ^0 A$ O2 k( s* |The influence of such common polymorphisms on breast cancer, one of the
$ W' \: c2 v# l6 B2 S% w' p/ d6 |leading causes of cancer death, is thoroughly reviewed in the second chapter written, d  {: r" F/ j3 O. e/ Q- u1 {
by Drs. Eccles and Tapper.
* K/ T5 M" ~. d4 EIn the third chapter, Drs. Schrader and Huntsman provide the latest genetic
: |8 X* y) N- e3 \3 M% ?7 fknowledge related to gastric cancer and focus on genetic cause, identification, and' S" L3 {* G$ B& U) ^, h# ?
management of a rare but deadly syndrome, hereditary gastric cancer.& |! p" r  V& o7 S% ?. }6 Z
Recent advances in cancer genetics are not limited to adult tumors. In the" j. S( N9 `# x- C: x
fourth chapter, Drs. Capasso and Diskin provide a timely update on the recent and8 d/ U0 J9 `# F
exciting genetic discoveries related to one of the most common pediatric cancer,
+ U, o/ A" q5 {/ `' j3 n; G2 Lneuroblastoma.+ J  A- r' f  z  l
In the fifth and last chapter, Drs. Bellam and Pasche review the latest discoveries8 q3 |  W, ], Y* c; j" q
related to constitutively altered TGF-β signaling in colorectal cancer risk, a novel/ g8 }) j  i3 v+ e/ U
phenotype that may account for a large proportion of colorectal cancers.6 B9 g3 w4 d1 J+ P  D5 ~$ @! E
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癌症遗传学？大致包括早期检测某些人群对癌症的易感性，以及通过遗传学方法来定位易感基因（经典LD-连锁不平衡分析）以及单倍型分析（均是基于基因多态性）。

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