Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer

Breast Cancer Research

Table 2 Mutation Analysis of FANCD2

Segment	Nucleotide change^a	Protein effect	No. of heterozygous cases	Frequency in controls (n = 93)	Reported in SNPper^b or FA database
-	-82 G>A		1/33	Not tested	No
-	-155 G>A		1/33	Not tested	No
-	-157 G>A		9/33	Not tested	No
-	-158 C>T		1/33	Not tested	No
-	-160 G>A		1/33	Not tested	No
Intron 5	379-6 del TT		11/33	Not tested	No
Exon 9	633 C>T	I211I	1/432	Not tested	No
Intron 9	694+17 G>C		127/432	Not tested	No
Intron 10	784-19 C>T		11/33	Not tested	No
Intron 12	990-38 C>G		11/33	Not tested	No
Exon 14	1122 A>G	V374V	11/33	Not tested	Yes
Intron 16	1414-9 C>T		N/A	Not tested	No
Intron 16	1414-23 T>C		N/A	Not tested	No
Intron 16	1414-89 T>A		N/A	Not tested	Yes
Intron 16	1414-117 A>T		N/A	Not tested	No
Intron 16	1414-125 G>A		N/A	Not tested	No
Intron 16	1414-136 C>T		N/A	Not tested	No
Exon 17	1440 T>C	H480H	N/A	Not tested	Yes
Exon 17	1509 C>T	N503N	N/A	Not tested	Yes
Intron 21	1828+34 C>T		2/33	Not tested	No
Intron 22	2021+10 G>T		1/33	Not tested	No
Intron 22	2021+31 C>T		16/33	Not tested	Yes
Intron 22	2021+100 A>G		1/33	Not tested	No
Exon 23	2148 C>G	T716T	1/33	Not tested	No
Intron 24	2270-28 G>T		11/33	Not tested	No
Intron 30	2976+36 T>C		11/33	Not tested	Yes
Intron 30	2977-39 C>T		1/33	Not tested	No
Exon 35	3558 C>G	L1186L	1/33	0/93	No
Intron 38	3850-203 C>T		11/33	Not tested	No
Intron 42	4185+33 T>C		11/33	Not tested	Yes
Intron 43	4281+97 A>G		11/33	Not tested	No
3' UTR	4359 C>T	3' UTR	15/33	Not tested	No

^aGenBank accession number NT005927. ^bVariants have been previously reported in the SNP database SNPper [44] or Fanconi Anemia (FA) Mutation Database [45]. UTR, untranslated region.

ISSN: 1465-542X