Forms and Documents
- An individual presenting with numerous basal cell carcinomas (BCCs) (>5 in a lifetime) or a BCC before age 30 years.
- An individual with fewer than 5 BCC but with other suggestive features of nevoid basal cell carcinoma syndrome (NBCCS) may also be appropriate for testing (see features below).
- An individual presenting with one or more associated features of NBCCS, such as lamellar calcification of the falx before age 20 years, multiple palmar pits, jaw keratocyst, childhood medulloblastoma, ovarian and/or cardiac fibroma, vertebral/rib anomalies (e.g. bifid/splayed/extra ribs; bifid vertebrae), macrocephaly, among others.
- An unaffected individual with a family history suggestive of NBCCS when the affected individual is unavailable for his or her own genetic testing.
- Klein, R. et al., Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genet Med. 7: 611-19, 2005
- Wicking, C. et al., Most Germ-Line Mutations in the Nevoid Basal Cell Carcinoma Syndrome Lead to a Premature Termination of the PATCHED Protein, and No Genotype-Phenotype Correlations Are Evident. Am J Hum Genet. 60: 21-26, 1997
- Lindström, E. et al., PTCH Mutations: Distribution and Analyses. Hum Mutat. 27: 215-19, 2006
- Benhamed S and Bale S. Gorlin Syndrome: A substantial proportion of previously “missing” mutations are large PTCH deletions. ASHG Abstract presented 2008.