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Heterozygous - ClinicalTrials.gov

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Last Updated: 11 September 2022

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Cancer Risk in Xeroderma Pigmentosum Heterozygotes

Xeroderma Pigmentosum is a rare, recessive disease that has a more than 100 percent rise in the occurrence of all major skin cancers related to defective DNA repair. The risk of skin and other cancers among normal-looking XP heterozygote people has yet to be investigated in full detail. We intend to examine the family members of XP families with known DNA repair gene mutations to see if heterozygote carriers of XP disease mutations are at an elevated risk of cancer. Individuals who are found to be heterozygous carriers of XP DNA repair gene disease mutations in these families by mutation analysis or pedigree will be compared to non-carrier relatives and spouses with respect to any form of cancer. Since the risks of these cancers are elevated among the XP homozygotes, we will also focus on skin cancer and cancer of the nervous system.

Source link: https://clinicaltrials.gov/ct2/show/NCT00046189

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions