Table 1

Germline mutations in CDKN2A melanoma-prone families

Family	No. patients with melanoma	*No. subjects with known CDKN2A* mutation status**	Date of ascertainment of family	*Description of CDKN2A* mutation**
Family	No. patients with melanoma	*No. subjects with known CDKN2A* mutation status**	Date of ascertainment of family	Exon	Amino acid change	Nucleotide change
*Includes patient with melanoma in situ; †fs: frameshift mutation; ‡Chimera: 1-80p16:100-133p14; §Splicing mutation results in: R128fs; Ex1α -Ex3delEx2.⁹
A	8	32	1976	1α	1_8dup8	24_47dup24
B	6*	10	1994	1α	L16R	47T>G
C	5	13	1995	2	M53I	159G>C
D	7*	19	1979	2	A58X	172C>T
E	4*	15	1979	2	N71S	212A>G
F	12*	23	1979	2	R87P	260G>C
G	5	12	1979	2	G101W	301G>T
H	3	7	1979	2	G101W	301G>T
I	5*	8	1988	2	G101W	301G>T
J	7	11	1980	2	V126D	377T>A
K	6*	11	1979	2	V126D	377T>A
L	10	33	1998	2	V126D	377T>A
N	8,	10	1992	2	S56fs†	167_197del31
P	11	45	1994	2	Chimera‡	240_253del14
Q	3	4	1988	Intron 2	Splicing§	+1g>t