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In family 1, methylation analyses in II-1 and II-2 of blood leukocytes showed partial LOM of KCNQ1OT1 DMR but was normal at this locus in skin fibroblasts (3).
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Interestingly, patients in whom this region was deleted had an improved overall survival (OS) compared to patients harboring a normal gene dosage at this locus (5 year OS 69% vs. 41%, P = 0.004-Figure 2A).
Likewise, cells with reduced BRCA1 copy number were significantly more sensitive to olaparib than cells with normal copy number at this locus (p value 0.012) (Supplementary Table 1c).
Tumours exhibiting CCNE1 amplification presented much higher expression compared with the mean value of tumours with normal DNA copy number at this locus (Supplementary Figure S1C).
The LCM data did not show significant expression difference between cancer and normal samples for any gene at this locus.
Using a quantitative MethyLight probe, we extended these findings and found that promoter hypermethylation occurred in over 57% of tumours compared to histologically normal tissues, and that hypermethylation at this locus is associated with a 6.2-fold increase in the presence of cancer, using a ROC curve.
Ms2 exists in wheat plants always in heterozygous status of Ms2ms2, and inherits itself by accepting the pollens of normal wheat varieties with ms2ms2 genotype at this locus (Deng and Gao 1980 , 1982 , 1987Gao 1987).
These expression kinetics would be expected for normal expression of this locus from a common promoter.
Our results suggest that common SNPs at this locus can also contribute to normal variation in the timing of tooth eruption and craniofacial distances.
These data could justify that tumors with AIs, and thus carrying a likely deletion at this locus, may have a worse prognosis than tumors with a normal locus.
Normal melanocytes, keratinocytes and cell lines derived from stage one melanoma were minimal methylated at this locus [ 120- 122].
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