ZIA CP010187 10777 (ZIA) | |||
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Title | Xeroderma Pigmentosum | ||
Institution | NCI, Bethesda, MD | ||
Principal Investigator | Achatz, Maria Isabel | NCI Program Director | N/A |
Cancer Activity | N/A | Division | DCEG |
Funded Amount | $31,377 | Project Dates | null - null |
Fiscal Year | 2018 | Project Type | Intramural |
Research Topics w/ Percent Relevance | Cancer Types w/ Percent Relevance | ||
Biochemical Epidemiology (45.0%) Cancer (100.0%) |
Melanoma (20.0%) | ||
Research Type | |||
Cancer Initiation: Alterations in Chromosomes Interactions of Genes and/or Genetic Polymorphisms with Exogenous and/or Endogenous Factors |
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Abstract | |||
Xeroderma Pigmentosum (XP) syndrome is an autosomal recessive disease linked to germline biallelic mutations in one of the eight genes that encode proteins of the nucleotide excision repair (NER) or translesion synthesis (TLS) pathways (XPA, XPB, XPC, XPD, XPE, XPF, XPG and XPV). XP patients are at a 10,000-fold increased risk of developing non-melanoma skin cancer before age 10 and a 2,000-fold increase in the incidence of malignant melanoma before age 20. Neurological degeneration is observed in 20%?30% of all patients. The objectives of this study are (1) to perform exome sequencing in 9 c.2251-1G>C XPC carriers and the respective mothers to determine germline genetic alterations that may explain clinical heterogeneity; (2) to perform exome sequencing in synchronous and metachronous tumors from XP patients to determine the profile of somatic mutations. |