摘要
Atypical mole syndrome is a sporadic or an inherited condition with an increas ed risk of melanoma. Germline mutations in the CDKN2A, ARF, CDK4 and somatic mut ations in the PTEN and BRAF genes have been associated with melanoma. In this st udy, we evaluated genes associated with familial and sporadic melanoma for mutat ions in 28 probands with the atypical mole syndrome. No sequence alterations in the coding regions or in the splice junctions of CDKN2A, ARF, CDK4, PTENor BRAF were identified. These data suggest that genes evaluated inthisstudyareunlikelyt obecandidategenesforatypicalmole syndrome and support the notion that unknown su sceptibility gene/s for this disease exist.
Atypical mole syndrome is a sporadic or an inherited condition with an increas ed risk of melanoma. Germline mutations in the CDKN2A, ARF, CDK4 and somatic mut ations in the PTEN and BRAF genes have been associated with melanoma. In this st udy, we evaluated genes associated with familial and sporadic melanoma for mutat ions in 28 probands with the atypical mole syndrome. No sequence alterations in the coding regions or in the splice junctions of CDKN2A, ARF, CDK4, PTENor BRAF were identified. These data suggest that genes evaluated inthisstudyareunlikelyt obecandidategenesforatypicalmole syndrome and support the notion that unknown su sceptibility gene/s for this disease exist.
