Cancer Risk in Individuals Who Have a Xeroderma Pigmentosum Gene Alteration Compared With Those Who Don't

OBJECTIVES:

- Compare risk of developing any type of cancer in participants who are heterozygous
carriers of xeroderma pigmentosum (XP) disease gene mutations vs non-carrier blood
relatives or spouses.

- Compare risk of developing skin cancers or cancers of the nervous system in these
participants.

- Compare cancer risk in different groups among heterozygous carriers of XP disease gene
mutations.

- Compare cancer risk in carriers of different XP disease gene mutations with
heterozygous carriers of these gene mutations.

OUTLINE: Participants undergo general cancer screening comprising a medical history and
physical examination, including a skin and neurologic examination. Laboratory samples are
collected for review.

Participants are followed annually by telephone or mail to determine clinical status.

PROJECTED ACCRUAL: Approximately 800 participants (400 heterozygous carriers and 400
non-carrier blood relatives or spouses) will be accrued for this study.