Table 2

Case	Kindred	Tumour pathological diagnosis	Locus	Mutation of PRKARIA	2p16 results
The first column of the table gives the assigned CAR code. The second column provides the histological diagnosis of the tumour studied; if a cell line was studied this is indicated in parentheses (CL). The third column provides the genetic locus information (CNC1 versus CNC2). “Sporadic” indicates a case with no known family history, as above. The fourth column shows the results of PRKAR1A mutation analysis. The fifth column presents the results of the study. Ampl=amplification, Del=deletion, NA=not analysed, Nl=normal (two signals of BAC analysed), LCCSCT=large cell calcifying Sertoli cell tumour, PPNAD=primary pigmented nodular adrenocortical disease.
1	CAR01	Ovarian cystic adenoma	CNC1	c.578delGT	Ampl
2	CAR01	Uterine fibromyxoma	CNC1	c.578delGT	Ampl
3	CAR01	Myxoid lipoma	CNC1	c.578delGT	Ampl
4	CAR01	PPNAD	CNC1	c.578delGT	Ampl
5	CAR01	Thyroid papillary carcinoma	CNC1	c.578delGT	Ampl
6	CAR01	PPNAD	CNC1	c.578delGT	Ampl
7	CAR01	Pituitary adenoma	CNC1	c.578delGT	Ampl
8	CAR01	Skin myxoma	CNC1	c.578delGT	Amp/Del
9	CAR02	PPNAD	Sporadic	NA	Del
10	CAR03	PPNAD	CNC2	–	Del
11	CAR06	Heart myxoma	Sporadic	–	Ampl
12	CAR06	Skin myxoma (CL)	Sporadic	–	Del
13	CAR07	PPNAD	Sporadic	–	Ampl
14	CAR07.04	PPNAD	Sporadic	–	Del
15	CAR14	PPNAD	Sporadic	–	Amp/Del
16	CAR14	PPNAD	Sporadic	–	Del
17	CAR16	Pituitary adenoma (CL)	NA	–	Ampl
18	CAR16	Thyroid follicular adenoma (CL)	NA	–	Ampl
19	CAR19	PPNAD	NA	c.88A>G	Ampl
20	CAR20	Pituitary adenoma	CNC1	c.578delGT	Ampl
21	CAR20	Schwannoma (CL)	CNC1	c.578delGT	Nl
22	CAR20	Skin myxoma (CL)	CNC1	c.578delGT	Nl
23	CAR25.03	PPNAD	CNC1	Exon8IVS+3G>A	Del
24	CAR25.04	PPNAD (CL)	CNC1	Exon8IVS+3G>A	Nl
25	CAR36.03	PPNAD	Sporadic	–	Del
26	CAR43.03	PPNAD	Sporadic	NA	Amp/Del
27	CAR 45	Skin myxoma	Sporadic	–	Del
28	CAR102	Heart myxoma	NA	–	Ampl
29	CAR110	Ovarian cyst	CNC1	c.769C>T	Del
30	CAR110	Ovarian cyst (CL)	CNC1	c.769C>T	Ampl
31	CAR110	PPNAD	CNC1	c.769C>T	Ampl
32	CAR110	Heart myxoma	CNC1	c.769C>T	Ampl
33	CAR110	Pituitary adenoma	CNC1	c.769C>T	Ampl
34	CAR110	Cheek myxoma	CNC1	c.769C>T	Ampl
35	CAR110	LCCSCT (CL)	CNC1	c.769C>T	Nl
36	CAR110	Thyroid follicular carcinoma	CNC1	c.769C>T	Del
37	CAR110	Skin myxoma	CNC1	c.769C>T	Nl
38	CAR503.01	PPNAD	Sporadic	Exon2IVS-2A>G	Ampl
39	CAR506.01	PPNAD	Sporadic	c.211C>T	Del
40	CAR506.01	Heart myxoma (CL)	Sporadic	c.211C>T	Nl
41	CAR508.01	Ovarian carcinoma	Sporadic	–	Del
42	CAR509.01	PPNAD	Sporadic	–	Ampl
43	CAR512.01	PPNAD	Sporadic	–	Ampl
44	CAR513.01	Gluteal myxoma	Sporadic	Intron3IVS+1G>C	Ampl
45	CAR515.01	PPNAD	Sporadic	–	Ampl
46	CAR521.01	PPNAD	Sporadic	–	Del