Journal
JOURNAL OF INVESTIGATIVE DERMATOLOGY
Volume 123, Issue 3, Pages 576-582Publisher
ELSEVIER SCIENCE INC
DOI: 10.1111/j.0022-202X.2004.23312.x
Keywords
familial; p16; total nevus density; total nevus number
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Funding
- NCI NIH HHS [5P30 CA 42014] Funding Source: Medline
- NCRR NIH HHS [M01 RR 00064, K23 RR 17525-01] Funding Source: Medline
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Phenotypic characteristics of members of a melanoma prone kindred with a V126D CDKN2A gene mutation were monitored over approximately 15 y. Thirty-eight previously studied subjects were recruited. Participants underwent a complete skin examination by the same dermatologist who examined them initially. The size and location of all nevi were recorded on a body map diagram. Total nevus number (TNN) and total nevus density (TND) were determined. CDKN2A sequencing verified 13 mutation carriers and 16 non-carriers. Nine participants were spouse controls without a history of melanoma and did not carry a CDKN2A mutation. Mutation carriers demonstrated a greater mean TNN and TND at initial and follow-up examinations compared with non-carriers and continued to develop nevi rather than show nevus regression seen in non-carriers and spouse controls. Non-carriers showed an intermediate nevus phenotype between mutation carriers and spouse controls. Four of the 13 mutation carriers and one non-carrier have developed invasive melanoma. Over a 15-y interval, TNN and TND were increased in mutation carriers compared with non-carriers and spouse controls. Continued accumulation of nevi in mutation carriers supports a nevogenic role for this CDKN2A mutation. An intermediate nevus phenotype in non-carrier family members suggests the presence of additional modifier genes.
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