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Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
A recent analysis using family history weighting and co-observation classification modeling indicated that BRCA1 c.594-2A > C (IVS9-2A > C), previously described to cause exon 10 skipping (aExpand
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Identification of nine new susceptibility loci for endometrial cancer
Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eightExpand
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The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
Although the spliceogenic nature of the BRCA2 c.68‐7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real‐timeExpand
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Novel Common Genetic Susceptibility Loci for Colorectal Cancer
BACKGROUND Previous genome-wide association studies (GWAS) have identified 42 loci (P < 5 × 10-8) associated with risk of colorectal cancer (CRC). Expanded consortium efforts facilitating theExpand
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Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer.
Genome-wide association studies have identified 20 genomic regions associated with risk of epithelial ovarian cancer (EOC), but many additional risk variants may exist. Here, we evaluatedExpand
Null Results in Brief Effect Modification by Smoking on the Association between Genetic Polymorphisms in Oxidative Stress Genes and Colorectal Cancer Risk
There is growing evidence that oxidative stress induced by reactive oxygen species (ROS) is involved in colorectal carcinogenesis by affecting cellular processes critical in tumor development (1).Expand