Table 2.

Summary of Germline SMAD4 Mutations and Immunohistochemistry

Family/ID	F,S	Mutation (Nucleotide no.)	Predicted effect	Method	SMAD4 expression
20	f	189–197dellins44†	stop codon 70	CSGE*	0/16 polyps
17	f	1564–1565del	stop codon 525	CSGE*	0/37 polyps
SV‡	s	516–527del	stop codon 187	CSGE*	−
BL‡	s	c → a 1333	R445X	CSGE*	−
AC/AF‡	f	c → t 1083	R361C	CSGE*	1/6 polyps, 0/1 cancer
21	f	+1 splice donor intron 2 g → a	Abrogation of splicing	F-SSCP	0/5 polyps
MTW	s	c → t 541	Q180X	PTT	−
MD	f	No			3/3 polyps
LB	s	No			7/8 polyps
12	f	No			3/3 polyps, 6/7 cancers
15	f	No			19/19 polyps
6	f	No			2/2 polyps 2/2 cancers
Wh	f	No			3/3 polyps

F,S denotes familial or sporadic case.

*Mutation previously reported 2,3 and confirmed in this study.

^†Mutation previously reported as 189–197 deletion only. 2,3

^‡Mutation previously reported 2,3 and not reanalyzed in this study.

Those families not shown had both no mutation detected and no tumours analysed by immunohistochemistry.

−, not done.

Association between loss of SMAD4 expression and SMAD4 mutation is highly significant (Fisher’s exact test, P ∼ 0.0).