Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer

Science

Volumn 321, Issue 5894, 2008, Pages 1361-1365

  Valle, Laura ^a   Serena Acedo, Tarsicio ^a   Liyanarachchi, Sandya ^a   Hampel, Heather ^a   Comeras, Ilene ^a   Li, Zhongyuan ^a   Zeng, Qinghua ^b   Zhang, Hong Tao ^b   Pennison, Michael J ^b   Sadim, Maureen ^b   Pasche, Boris ^b   Tanner, Stephan M ^a   De La Chapelle, Albert ^a  

^a OHIO STATE UNIVERSITY   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA1; PROTEIN SERINE THREONINE KINASE; SMAD3 PROTEIN; SMAD3 PROTEIN, HUMAN; TGF BETA TYPE I RECEPTOR; TGF-BETA TYPE I RECEPTOR; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA RECEPTOR;

ALLELE; CANCER; GENE EXPRESSION; MUTATION; POPULATION GENETICS; RISK ASSESSMENT;

ALLELE; ARTICLE; COLORECTAL CANCER; CONFIDENCE INTERVAL; ETHNIC DIFFERENCE; GENE EXPRESSION; GENE MUTATION; HAPLOTYPE; HUMAN; PRIORITY JOURNAL; SEGREGATION ANALYSIS; 3' UNTRANSLATED REGION; ADULT; AGED; CELL LINE; COLORECTAL TUMOR; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; MALE; METABOLISM; MIDDLE AGED; QUANTITATIVE TRAIT; RISK FACTOR; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

NORTH AMERICA; UNITED STATES;

3' UNTRANSLATED REGIONS; ADULT; AGED; AGED, 80 AND OVER; ALLELES; CELL LINE; COLORECTAL NEOPLASMS; FEMALE; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HETEROZYGOTE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; QUANTITATIVE TRAIT, HERITABLE; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; RISK FACTORS; SIGNAL TRANSDUCTION; SMAD3 PROTEIN; TRANSFORMING GROWTH FACTOR BETA;

EID: 51149099981     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1159397     Document Type: Article

References (32)

1. D. M. Parkin, F. Bray, J. Ferlay, P. Pisani, CA Cancer J. Clin. 55, 74 (2005).
2. A. de la Chapelle, Nat. Rev. Cancer 4, 769 (2004).
3. N. M. Lindor et al., JAMA 293, 1979 (2005).
4. P. M. Siegel, J. Massague, Nat. Rev. Cancer 3, 807 (2003).
5. S. Markowitz et al., Science 268, 1336 (1995).
6. B. Pasche et al., Cancer Res. 58, 2727 (1998).
7. Y. Xu, B. Pasche, Hum. Mol. Genet. 16, R14 (2007).
8. H. Yan et al., Nat. Genet. 30, 25 (2002).
9. A. Raval et al., Cell 129, 879 (2007).
10. Materials and methods are available as supporting material on Science Online.
11. J. Massague, R. R. Gomis, FEBS Lett. 580, 2811 (2006).
12. J. Massague, Mol. Cell 29, 149 (2008).
13. X. Liu et al., Proc. Natl. Acad. Sci. U.S.A. 94, 10669 (1997).
14. Y. Zhu, J. A. Richardson, L. F. Parada, J. M. Graff, Cell 94, 703 (1998).
15. N. M. Sodir et al., Cancer Res. 66, 8430 (2006).
16. G. Sekimoto et al., Cancer Res. 67, 5090 (2007).
17. B. Pasche et al., J. Clin. Oncol. 22, 756 (2004).
18. B. Pasche et al., Cancer Res. 59, 5678 (1999).
19. B. Pasche et al., JAMA 294, 1634 (2005).
20. Y. Bian et al., J. Clin. Oncol. 23, 3074 (2005).
21. J. Skoglund et al., Clin. Cancer Res. 13, 3748 (2007).
22. B. Bierie, H. L. Moses, Cytokine Growth Factor Rev. 17, 29 (2006).
23. J. Massague, S. W. Blain, R. S. Lo, Cell 103, 295 (2000).
24. T. Sjoblom et al., Science 314, 268 (2006).
25. H. Yan, W. Zhou, Curr. Opin. Oncol. 16, 39 (2004).
26. G. L. Wiesner et al., Proc. Natl. Acad. Sci. U.S.A. 100, 12961 (2003).
27. Z. E. Kemp et al., Cancer Res. 66, 5003 (2006).
28. J. Skoglund et al., J. Med. Genet. 43, e7 (2006).
29. M. Morley et al., Nature 430, 743 (2004).
30. H. H. Goring et al., Nat. Genet. 39, 1208 (2007).
31. B. E. Stranger et al., Nat. Genet. 39, 1217 (2007).
32. We thank H. He, K. Sotamaa, and W. Frankel for help. This work was supported by NIH grants CA67941, CA16058, CA112520, and CA108741; grants from the Walter S. Mander Foundation, Chicago, IL; and the Jeannik M. Littlefield-American Association for Cancer Research Grant in Metastatic Colon Cancer Research. L.V. was supported by a fellowship from the Fundación Ramón Areces.