Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil

Table 1 Patients analyzed in the study

Patients	Gender	Age at diagnosis	Histopathology
Family 1 (FAP1)
01A	Female	23	FAP
01B	Female	25	FAP
01C	Female	18	FAP
01D	Male	14	FAP
01E	Male	17	FAP
Family 2 (FAP2)
02F	Female	40	FAP
02G	Male	1	FAP
02H	Female	15	FAP
02I	Male	NA2	-
Family 3 (FAP3)
03J	Male	30	FAP
03H	Female	NA	-
03L	Female	NA	-
03M	Female	NA	-
Family 4 (FAP4)
04N	Male	40	FAP
Family 5 (FAP5)
05O	Male	25	FAP

¹Unknown;

²Patients without disease. FAP: Familial adenomatous polyposis; NA: Not applicable.

Table 2 Mutations in the APC gene: Relationship between genotype and phenotype in patients with familial adenomatous polyposis

Families	Exon	Codon	Mutation	Phenotype1	Ref.
			Frameshift mutations
FAP1	15	1061	c.3183_3187delACAAA	Intermediate	Ficari et al[18], Jarry et al[19]
FAP2	15	1309	c.3927_3931delAAAGA	Severe	Miyoshi et al[20], Jarry et al[19]
FAP5	15	1309	c.3921_3925delAAAAG	Severe	Miyaki et al[21], Mulkens et al[22]
FAP1-FAP5	15	1319	c.3956delC	Severe	Miyaki et al[21]

¹According to Nieuwenhuis et al[16].