Fig. 2

Germline mutations and polymorphisms in CDKN2A identified to date (July 1996) and their relative frequencies

Although the CDKN2A germline variants are presented here in melanoma kindreds, this term does not apply to all of the families listed here: the Met53lle (23), Gly101Trp (33), and 12 bp del 268–279 (34) have all been reported to occur in kindreds with only one case of melanoma. Each symbol to the left of the diagram represents one family in which the corresponding mutation has been found. Underlined mutations occur in consensus ankyrin domain amino acids. Mutations in bold are also seen somatically in primary tumors and/or cell lines. Mutations accompanied by asterisks have some kindred sharing a common founder. #In the original reference, this mutation was reported as Ins111Arg. This is probably the same mutation as the Ins113Arg reported by Borg et al. (63).