What is it about?
We analyzed more than 160 million DNA variants present in 10,000 tumors to identify those which cause the expression of genes to be abnormal. We were able to verify approximately 351,000 mutations which cause the expression of genes to be abnormally processed (affecting splicing of the expressed transcripts). This database should substantially assist in the interpretation of gene variants of unknown significance which confound genetic counseling and treatment.
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Why is it important?
This is the largest single study to report experimentally validated mutations that alter human mRNA splicing. It substantially reduces the number of gene variants of uncertain significance with potentially pathological effects.
Perspectives
This is only the beginning of our efforts. We are currently processing another 600 tumors from the International Cancer Genome Consortium for additional mutations. Because the process is now automated, it should be possible to increase the number of variants with known effects using available genome and transcriptome data, which are more and more becoming a standard aspect of cancer diagnosis. It is very plausible that the cis-acting mutations validated in these tumors will also have similar effects in the constitutional genome and may be of assistance in interpreting VUS in congenital disorders.
Dr Peter K Rogan
Western University
Read the Original
This page is a summary of: Pan-cancer repository of validated natural and cryptic mRNA splicing mutations, F1000Research, December 2018, Faculty of 1000, Ltd.,
DOI: 10.12688/f1000research.17204.1.
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