Table 1

Number of CMM patients, family members, and distribution of risk factors in melanoma-prone families

FamilyConfirmed cases of CMMMedian age at CMM DxTotal membersCDKN2A alterationNeviaDNaSIa
ExpUnexpUnkExpUnexpUnkExpUnexpUnk
A8385323ins24123291632522229
D7b3441Arg58Ter92111131513151412
E4b2526Asn71Ser2222914314102
F8b3451Arg87Pro936618231010356
G73129Gly101Trp5204111268183
H3329Gly101Trp351621261
I5b2715Gly101Trp834816735
J7b3918Val126Asp61208825121
K5b3616Val126Asp2122862682
M123840Ala148Thr713201312159823
N7b3521167del3131085511768
P123868240del140402872833182228
Q3318IVS2+1152323422
T4b29170134764584
U3239162252432
V3b429270621540
W35523510810581508
X24313652562562
Y2606231321312
Z6b3835121211101213111311
  • a Exp, exposed; Unexp, unexposed; Unk, unknown.

  • b Includes 1 patient with melanoma-in-situ (MIS).