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Table S2-S3 inlcude siRNAs and primers used in this study.

Associations of selected SNPs in the screening and the replication stages.

Supplementary figure S1-S19 present the results of EWAS analysis and association information of the three novel loci. The data also show the functional and clinical evidence of the three loci associated genes

Genome-wide association studies have identified more than 90 susceptibility loci for breast cancer. However, the missing heritability is evident, and the contributions of coding variants to breast cancer susceptibility have not yet been systematically evaluated. Here, we present a large-scale whole-exome association study for breast cancer consisting of 24,162 individuals (10,055 cases and 14,107 controls). In addition to replicating known susceptibility loci (e.g., ESR1, FGFR2, and TOX3), we identify two novel missense variants in C21orf58 (rs13047478, Pmeta = 4.52 × 10−8) and ZNF526 (rs3810151, Pmeta = 7.60 × 10−9) and one new noncoding variant at 7q21.11 (P < 5 × 10−8). C21orf58 and ZNF526 possessed functional roles in the control of breast cancer cell growth, and the two coding variants were found to be the eQTL for several nearby genes. rs13047478 was significantly (P < 5.00 × 10−8) associated with the expression of genes MCM3AP and YBEY in breast mammary tissues. rs3810151 was found to be significantly associated with the expression of genes PAFAH1B3 (P = 8.39 × 10−8) and CNFN (P = 3.77 × 10−4) in human blood samples. C21orf58 and ZNF526, together with these eQTL genes, were differentially expressed in breast tumors versus normal breast. Our study reveals additional loci and novel genes for genetic predisposition to breast cancer and highlights a polygenic basis of disease development.Significance: Large-scale genetic screening identifies novel missense variants and a noncoding variant as predisposing factors for breast cancer. Cancer Res; 78(11); 3087–97. ©2018 AACR.

Genome-wide association studies have identified more than 90 susceptibility loci for breast cancer. However, the missing heritability is evident, and the contributions of coding variants to breast cancer susceptibility have not yet been systematically evaluated. Here, we present a large-scale whole-exome association study for breast cancer consisting of 24,162 individuals (10,055 cases and 14,107 controls). In addition to replicating known susceptibility loci (e.g., ESR1, FGFR2, and TOX3), we identify two novel missense variants in C21orf58 (rs13047478, Pmeta = 4.52 × 10−8) and ZNF526 (rs3810151, Pmeta = 7.60 × 10−9) and one new noncoding variant at 7q21.11 (P < 5 × 10−8). C21orf58 and ZNF526 possessed functional roles in the control of breast cancer cell growth, and the two coding variants were found to be the eQTL for several nearby genes. rs13047478 was significantly (P < 5.00 × 10−8) associated with the expression of genes MCM3AP and YBEY in breast mammary tissues. rs3810151 was found to be significantly associated with the expression of genes PAFAH1B3 (P = 8.39 × 10−8) and CNFN (P = 3.77 × 10−4) in human blood samples. C21orf58 and ZNF526, together with these eQTL genes, were differentially expressed in breast tumors versus normal breast. Our study reveals additional loci and novel genes for genetic predisposition to breast cancer and highlights a polygenic basis of disease development. Significance: Large-scale genetic screening identifies novel missense variants and a noncoding variant as predisposing factors for breast cancer. Cancer Res; 78(11); 3087–97. ©2018 AACR.

The physical properties of reservoirs determine the ability on accumulating hydrocarbon. As one of the unconventional hydrocarbon reservoirs, the volcanics own the different characteristics from the clastic rocks on physical properties. The study on the relationship between physical and electrical properties of deep volcanic reservoirs was conducted, using the Luxi area of Junggar basin as an example. By our study, some conclusions have been made: The heterogeneity of physical properties is strong in volcanic rocks whose porosity and permeability vary in different lithology and lithofacies; different rocks in a same well have various values of porosity and permeability, and a certain type of volcanic rock has different values of porosity and permeability in diverse wells. According to measured data, the value of porosity an permeability in erupting and effusive facies area are high, while in volcanic channel and extrusive facies as well as volcanic sedimentation facies are low. Unlike the clastic rocks, in volcanic rocks there is little relationship between porosity and permeability and all of them do not have close relationship to the buried depth. Different electrical responses have different relationship with the porosity of one certain lithology, while one certain electrical property has different responses for the porosities of different lithologies; comparatively speaking, the porosities of tuffites, breccia correlate intensively with GR, SP and AC, so these electrical parameters can be utilized to predict the physical properties. This study illustrated that the relativities between porosity and GR, AC, and SP are Por=-0.6189×GR+52.691 (R2=0.9311), Por =-0.3771×AC + 34.5 (R2=0.8876) and Por = 2.1458×SP + 79.404 (R2=0.8236).