Table 2.

SMAD4 LOH and mutation analysis in juvenile polyps from patients with a SMAD4 germline mutation.

Patient	Polyp	SMAD4 IHC	LOH analysis					Somatic mutation
			D18s46		D18s474	D18s858	D18s64
1	1.1	reduced		S M A D 4				c.170 T>A p.L57X
2*	2.3	reduced
3*	3.1	reduced
4†	4.1	loss
5†	5.1	loss
6	6.2	normal
7	7.1	normal
	7.3	loss						c.403 C>T p.R135X
8	8.1	loss
	8.2a	loss
	8.2b	normal
	8.4a	loss
	8.4b	normal

^*Patient 2 and 3 and

^†patient 4 and 5 are from the same family

LOH

Non-informative

Retention