Are there gene mutations associated with the risk of developing a therapy-related second cancer?

There do seem to be certain genetic factors that can increase a person’s susceptibility to the harmful effects of anticancer therapies, but we don’t yet know enough to say for sure what they are. For example, the best known case is in individuals diagnosed with hereditary retinoblastoma, who have a specific mutation in the Rb-1 gene. For reasons that aren’t well understood, patients with this mutation, when given radiotherapy, are at higher risk for developing sarcomas either in the bone or connective tissue.

Studies of the genetic mechanisms of second tumor risk in cancer survivors are incredibly complex to carry out. Because these occurrences are rare, the research community doesn’t have big enough studies with a sufficient number of people to definitively identify the susceptibility genes in therapy-related cancers. An exciting area of research is the identification of variations in genes that are important in activating or detoxifying specific chemotherapy agents.

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