Table 3.

Results from immunohistochemistry, mutation screening, and array CGH in LPTAs 1–21

					Mutation screeninga			Total change by array CGH (Mb)
Case no.	IHC parafibromin	IHC APC	CNA at MEN1	CNA at HRPT2	MEN1	HRPT2	Predicted protein effect	Losses	Gains	Total
1	–	–	No	No	Wt	Wt	–	187.6	100.2	287.8
2	–	–	No	Loss	c.1715del6b	Wt	Stop codon at nt 1825	798.5	308.6	1107.1
3	Pos	Pos	No	No	Wt	Wt	–	0.0	45.8	45.8
4	Pos	Pos	No	No	Wt	c214C>T	p.Pro71Ser	10.4	1.0	11.4
5	Pos	Pos	Loss	No	c.1125del4	Wt	Stop codon at nt 1327	165.0	46.4	211.4
6	Pos	Pos	No	No	Wt	Wt	–	144.9	16.8	161.7
7	Total loss	Pos	No	No	Wt	Wt	–	1.9	0.3	2.2
8	Partial loss	Pos	No	No	Wt	Wt	–	3.8	14.1	17.9
9	Pos	Pos	No	No	Wt	Wt	–	127.7	78.7	206.4
10	Partial loss	Pos	Loss	No	Wt	Wt	–	171.4	2.8	174.2
11	Partial loss	Pos	Loss	No	Wt	Wt	–	267.8	445.9	713.7
12	Total loss	Pos	No	No	Wt	Wt	–	4.2	614.1	618.3
13	Total loss	Neg	No	No	Wt	Wt	–	49.8	785.4	835.2
14	Partial loss	Neg	No	No	Wt	Wt	–	19.9	3.6	23.4
15	Pos	Pos	No	No	Wt	Wt	–	38.0	6.3	44.3
16	Partial loss	Pos	No	No	Wt	Wt	–	207.9	508.4	716.3
17	Total loss	Pos	Loss	Loss	c.113del11	Wt	Stop codon at nt 334	526.1	389.8	915.9
18	Pos	Pos	No	No	c.398insT	Wt	Stop codon at nt 537	123.7	3.0	126.7
19	Total loss	Pos	No	No	c.207del14	Wt	Stop codon at nt 333	1.8	1.5	3.2
20	Pos	Pos	Loss	No	Wt	Wt	–	176.2	2.3	178.5
21	Pos	Pos	No	No	Wt	Wt	–	210.9	175.6	386.5
Total								3237.4	3550.4	6787.8

IHC, immunohistochemistry; APC, adenomatous polyposis coli; Pos, positive; Neg, negative; Wt, wild type; CNA, copy number aberration.

^aNumbering was according to ensemble for the MEN1 (ENST00000312049) and HRPT2 (ENST00000367435) genes.

^bThe mutation has been previously reported in Juhlin et al. (2006).