Identifying germline-somatic and synthetic lethal targets in hereditary cancers

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Extensive molecular data is increasingly used in clinical oncology to identify predictors of response to therapeutic options or to gain prognostic information. While germline genetic testing has entered the data used in this context (via BRCA1/2 and PARP inhibition), other potential relationships and targets have not been well characterized to date. Following my recent arrival to the National Cancer Institute, we intend to characterize somatic genomic and transcriptomic patterns from primary breast cancers in patients who have either Li Fraumeni syndrome or hereditary breast and ovarian cancer syndrome (germline BRCA1/2 pathogenic variants). We will use this information to determine from a bioinformatics standpoint if specific targeted therapies or therapies with potential synthetic lethal targets to the germline mutations may be overrepresented candidates for tumor treatment relative to the standard of care.