Potentially functional polymorphisms in ATG10 are associated with risk of breast cancer in a Chinese population

Gene

Volumn 527, Issue 2, 2013, Pages 491-495

  Qin, Zhenzhen ^a   Xue, Jialei ^a   He, Yisha ^a   Ma, Hongxia ^a   Jin, Guangfu ^a   Chen, Jiaping ^a   Hu, Zhibin ^a   Liu, Xiao'an ^a   Shen, Hongbing ^a  

^a NANJING MEDICAL UNIVERSITY   (China)

Author keywords

Association study; Autophagy; Breast cancer; Polymorphism; Susceptibility

Indexed keywords

ESTROGEN RECEPTOR; PROGESTERONE RECEPTOR;

ADULT; ARTICLE; AUTOPHAGOSOME; AUTOPHAGY; BREAST CANCER; CANCER CONTROL; CANCER RISK; CANCER SUSCEPTIBILITY; CHINESE; CONTROLLED STUDY; FEMALE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; LIVE BIRTH; MAJOR CLINICAL STUDY; MENARCHE; MENOPAUSE; PRIORITY JOURNAL;

95% CONFIDENCE INTERVAL; ASSOCIATION STUDY; ATG; AUTOPHAGY; AUTOPHAGY-RELATED GENES; BREAST CANCER; CI; ER; ESES; ESTROGEN RECEPTOR; EXONIC SPLICING ENHANCERS; GENOME-WIDE ASSOCIATION STUDIES; GWAS; LD; LINKAGE DISEQUILIBRIUM; ODDS RATIOS; OR; POLYMORPHISM; PR; PROGESTERONE RECEPTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SNP; SUSCEPTIBILITY;

ADULT; BREAST NEOPLASMS; CHINA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; UBIQUITIN-CONJUGATING ENZYMES;

EID: 84881545650     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.06.067     Document Type: Article

References (28)

1. Baselga J., Norton L. Focus on breast cancer. Cancer Cell 2002, 1(4):319-322.
2. Cartegni L., Chew S.L., Krainer A.R. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat. Rev. Genet. 2002, 3(4):285-298.
3. Desai S., et al. Heat shock factor 1 (HSF1) controls chemoresistance and autophagy through transcriptional regulation of autophagy-related protein 7 (ATG7). J. Biol. Chem. 2013, 288:9165-9176.
4. Gaildrat P., et al. The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements. J. Med. Genet. 2010, 47(6):398-403.
5. Gozuacik D., Kimchi A. Autophagy as a cell death and tumor suppressor mechanism. Oncogene 2004, 23(16):2891-2906.
6. Jemal A., Bray F., Center M.M., Ferlay J., Ward E., Forman D. Global cancer statistics. CA Cancer J. Clin. 2011, 61(2):69-90.
7. Jo Y.K., et al. Increased expression of ATG10 in colorectal cancer is associated with lymphovascular invasion and lymph node metastasis. PLoS One 2012, 7(12):e52705.
8. Kim M.S., Song S.Y., Lee J.Y., Yoo N.J., Lee S.H. Expressional and mutational analyses of ATG5 gene in prostate cancers. APMIS 2011, 119(11):802-807.
9. Kongara S., Karantza V. The interplay between autophagy and ROS in tumorigenesis. Front. Oncol. 2012, 2:171.
10. Levine B., Kroemer G. Autophagy in the pathogenesis of disease. Cell 2008, 132(1):27-42.
11. Maiuri M.C., Zalckvar E., Kimchi A. Self-eating and self-killing: crosstalk between autophagy and apoptosis. Nat. Rev. Mol. Cell Biol. 2007, 8(9):741-752.
12. Michailidou K., et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat. Genet. 2013, 45(4):353-361.
13. Millevoi S., et al. The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding. Breast Cancer Res. Treat. 2010, 120(2):391-399.
14. Oga A., Kong G., Ishii Y., Izumi H., Park C.Y., Sasaki K. Preferential loss of 5q14-21 in intestinal-type gastric cancer with DNA aneuploidy. Cytometry 2001, 46(1):57-62.
15. Ogier-Denis E., Codogno P. Autophagy: a barrier or an adaptive response to cancer. Biochim. Biophys. Acta 2003, 1603(2):113-128.
16. Raju D., Hussey S., Jones N.L. Crohn disease ATG16L1 polymorphism increases susceptibility to infection with Helicobacter pylori in humans. Autophagy 2012, 8(9):1387-1388.
17. Ramus S.J., et al. BRCA1/2 mutation status influences somatic genetic progression in inherited and sporadic epithelial ovarian cancer cases. Cancer Res. 2003, 63(2):417-423.
18. Robbins G.T., Nie D. PPAR gamma, bioactive lipids, and cancer progression. Front. Biosci. 2012, 17:1816-1834.
19. Runkle K.B., Meyerkord C.L., Desai N.V. Bif-1 suppresses breast cancer cell migration by promoting EGFR endocytic degradation. Cancer Biol. Ther. 2012, 13(10):956-966.
20. Songane M., et al. Polymorphisms in autophagy genes and susceptibility to tuberculosis. PLoS One 2012, 7(8):e41618.
21. Todde V., Veenhuis M., van der Klei I.J. Autophagy: principles and significance in health and disease. Biochim. Biophys. Acta 2009, 1792(1):3-13.
22. Wappenschmidt B., et al. Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction. PLoS One 2012, 7(12):e50800.
23. Warren Andersen S., Newcomb P.A., Hampton J.M., Titus-Ernstoff L., Egan K.M., Trentham-Dietz A. Reproductive factors and histologic subtype in relation to mortality after a breast cancer diagnosis. Breast Cancer Res. Treat. 2011, 130:975-980.
24. Won K.Y., Kim G.Y., Kim Y.W., Song J.Y., Lim S.J. Clinicopathologic correlation of beclin-1 and bcl-2 expression in human breast cancer. Hum. Pathol. 2010, 41(1):107-112.
25. Xu Z., Taylor J.A. SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies. Nucleic Acids Res. 2009, 37. ((Web Server issue):W600-605).
26. Yoshimori T., Noda T. Toward unraveling membrane biogenesis in mammalian autophagy. Curr. Opin. Cell Biol. 2008, 20(4):401-407.
27. Yoshioka A., et al. LC3, an autophagosome marker, is highly expressed in gastrointestinal cancers. Int. J. Oncol. 2008, 33(3):461-468.
28. Yu Q., et al. An intron mutation in the ACVRL1 may be associated with a transcriptional regulation defect in a Chinese family with hereditary hemorrhagic telangiectasia. PLoS One 2013, 8(2):e58031.