Abstract
The availability of affordable genome-wide association (GWA) studies has led to the discovery of a large number of cancer risk alleles. The prospects of identifying additional alleles using the same disease-based approach are limited unless very large samples sizes are used in future investigations. An alternative and powerful way to identify additional cancer genes is to study intermediate phenotypes, such as variation in DNA repair capacity, that are known to be associated with increased disease risk. Most of these phenotypes are highly genetic. Their measurement can be achieved using well-established medium-throughput to high-throughput methods and their genetic mapping can be carried out with relatively small sample sizes. The genetic variants associated with these phenotypes will represent ideal functionally validated candidates for cancer susceptibility studies. Unlike hypothesis-free and disease-based GWA-discovered alleles, intermediate phenotype alleles that mediate cancer risk will have a strong biological relevance and will represent excellent modifiable or 'drugable' therapeutic targets.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 308-314 |
| Number of pages | 7 |
| Journal | Current Opinion in Genetics and Development |
| Volume | 20 |
| Issue number | 3 |
| DOIs | |
| State | Published - Jun 2010 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Genetics
- Developmental Biology
- Medicine(all)
Cite this
Genetic dissection of intermediate phenotypes as a way to discover novel cancer susceptibility alleles. / Carvajal-Carmona, Luis.
In: Current Opinion in Genetics and Development, Vol. 20, No. 3, 06.2010, p. 308-314.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Genetic dissection of intermediate phenotypes as a way to discover novel cancer susceptibility alleles
AU - Carvajal-Carmona, Luis
PY - 2010/6
Y1 - 2010/6
N2 - The availability of affordable genome-wide association (GWA) studies has led to the discovery of a large number of cancer risk alleles. The prospects of identifying additional alleles using the same disease-based approach are limited unless very large samples sizes are used in future investigations. An alternative and powerful way to identify additional cancer genes is to study intermediate phenotypes, such as variation in DNA repair capacity, that are known to be associated with increased disease risk. Most of these phenotypes are highly genetic. Their measurement can be achieved using well-established medium-throughput to high-throughput methods and their genetic mapping can be carried out with relatively small sample sizes. The genetic variants associated with these phenotypes will represent ideal functionally validated candidates for cancer susceptibility studies. Unlike hypothesis-free and disease-based GWA-discovered alleles, intermediate phenotype alleles that mediate cancer risk will have a strong biological relevance and will represent excellent modifiable or 'drugable' therapeutic targets.
AB - The availability of affordable genome-wide association (GWA) studies has led to the discovery of a large number of cancer risk alleles. The prospects of identifying additional alleles using the same disease-based approach are limited unless very large samples sizes are used in future investigations. An alternative and powerful way to identify additional cancer genes is to study intermediate phenotypes, such as variation in DNA repair capacity, that are known to be associated with increased disease risk. Most of these phenotypes are highly genetic. Their measurement can be achieved using well-established medium-throughput to high-throughput methods and their genetic mapping can be carried out with relatively small sample sizes. The genetic variants associated with these phenotypes will represent ideal functionally validated candidates for cancer susceptibility studies. Unlike hypothesis-free and disease-based GWA-discovered alleles, intermediate phenotype alleles that mediate cancer risk will have a strong biological relevance and will represent excellent modifiable or 'drugable' therapeutic targets.
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UR - http://www.scopus.com/inward/citedby.url?scp=77953614989&partnerID=8YFLogxK
U2 - 10.1016/j.gde.2010.03.013
DO - 10.1016/j.gde.2010.03.013
M3 - Article
VL - 20
SP - 308
EP - 314
JO - Current Opinion in Genetics and Development
JF - Current Opinion in Genetics and Development
SN - 0959-437X
IS - 3
ER -