ZIA CP004410 08230 (ZIA) | |||
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Title | NBCC Syndrome | ||
Institution | NCI, Bethesda, MD | ||
Principal Investigator | Goldstein, Alisa | NCI Program Director | N/A |
Cancer Activity | N/A | Division | DCEG |
Funded Amount | $15,350 | 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%) |
Brain (20.0%) | ||
Research Type | |||
Endogenous Factors in the Origin and Cause of Cancer Interactions of Genes and/or Genetic Polymorphisms with Exogenous and/or Endogenous Factors |
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Abstract | |||
A genetic epidemiologic study of NBCCS initiated in 1985. Patients and families were ascertained through health‑care professionals or self referrals. Participants underwent physical, dermatologic, and dental examinations, radiologic studies and phlebotomy for genetic studies. We later developed a questionnaire to ask primarily about sun exposure, numbers of BCCs, and body site distribution of BCCs. The study led to the identification of PTCH as the major susceptibility gene for NBCCS. We have recently restarted the search for additional major susceptibility genes in NBCCS using exome sequencing approaches. Sequencing and evaluation of the data are currently underway. |