Study

Multiple Malignancy Familial Comparison

Study ID Alternative Stable ID Type
EGAS00001000333 Cancer Genomics

Study Description

Patient (who has had multiple malignancies) has previously been found to harbour a pathogenic p53 variant which is probably mosaic. This finding is based on exome sequencing performed elsewhere. In this study we will resequence the locus in question to ascertain whether the variant is indeed mosaic.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001001062
Patient (who has had multiple malignancies) has previously been found to harbour a pathogenic p53 variant which is probably mosaic. This finding is based on exome sequencing performed elsewhere. In this study we will resequence the locus in question to ascertain whether the variant is indeed mosaic.
Illumina MiSeq 4

Who archives the data?

There are no publications available