@article{22669,
  author = {Kanetsky P. and Dwyer T and Orlow I. and Luo L. and Anton-Culver H. and Gruber S. and Marrett L. and Gallagher R. and Rosso S. and From L. and Busam K. and Cust A. and Begg C. and Berwick M. and Thomas N. and White K. and Thompson T. and Torres S. and Hu C. and Lilyquist J. and Sacchetto L.},
  title = {Variants in autophagy-related genes and clinical characteristics in melanoma: a population-based study},
  abstract = {<p>
Autophagy has been linked with melanoma risk and survival, but no polymorphisms in autophagy-related (ATG) genes have been investigated in relation to melanoma progression. We examined five single-nucleotide polymorphisms (SNPs) in three ATG genes (ATG5; ATG10; and ATG16L) with known or suspected impact on autophagic flux in an international population-based case-control study of melanoma. DNA from 911 melanoma patients was genotyped. An association was identified between (GG) (rs2241880) and earlier stage at diagnosis (OR 0.47; 95% Confidence Intervals (CI) = 0.27-0.81, P = 0.02) and a decrease in Breslow thickness (P = 0.03). The ATG16L heterozygous genotype (AG) (rs2241880) was associated with younger age at diagnosis (P = 0.02). Two SNPs in ATG5 were found to be associated with increased stage (rs2245214 CG, OR 1.47; 95% CI = 1.11-1.94, P = 0.03; rs510432 CC, OR 1.84; 95% CI = 1.12-3.02, P = 0.05). Finally, we identified inverse associations between ATG5 (GG rs2245214) and melanomas on the scalp or neck (OR 0.20, 95% CI = 0.05-0.86, P = 0.03); ATG10 (CC) (rs1864182) and brisk tumor infiltrating lymphocytes (TILs) (OR 0.42; 95% CI = 0.21-0.88, P = 0.02), and ATG5 (CC) (rs510432) with nonbrisk TILs (OR 0.55; 95% CI = 0.34-0.87, P = 0.01). Our data suggest that ATG SNPs might be differentially associated with specific host and tumor characteristics including age at diagnosis, TILs, and stage. These associations may be critical to understanding the role of autophagy in cancer, and further investigation will help characterize the contribution of these variants to melanoma progression.
</p>
},
  year = {2016},
  journal = {Cancer Med},
  volume = {5},
  edition = {2016/10/18},
  number = {11},
  pages = {3336-45},
  isbn = {2045-7634 (Electronic)<br/>2045-7634 (Linking)},
  note = {White, Kirsten A M<br/>Luo, Li<br/>Thompson, Todd A<br/>Torres, Salina<br/>Hu, Chien-An Andy<br/>Thomas, Nancy E<br/>Lilyquist, Jenna<br/>Anton-Culver, Hoda<br/>Gruber, Stephen B<br/>From, Lynn<br/>Busam, Klaus J<br/>Orlow, Irene<br/>Kanetsky, Peter A<br/>Marrett, Loraine D<br/>Gallagher, Richard P<br/>Sacchetto, Lidia<br/>Rosso, Stefano<br/>Dwyer, Terence<br/>Cust, Anne E<br/>Begg, Colin B<br/>Berwick, Marianne<br/>GEM Study Group<br/>United States<br/>Cancer Med. 2016 Oct 17. doi: 10.1002/cam4.929.},
  language = {Eng},
}