Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk

Table 3 Previously characterized large rearrangements that were included in the study

Gene	Mutation	microarray CGH	NGS dosage analysis	MLPA
APC	deletion promoter 1B - exon 3	detected	detected	n/a
APC	deletion exon 4	detected	detected	n/a
BRCA1	duplication promoter 1A - exon 2	detected	detected	n/a
	deletion promoter 1A - exon 19	detected	detected	n/a
	duplication exons 5 - 7	detected	detected	n/a
	deletion exon 13	detected	n/a -- insufficient volume	n/a
	duplication exon 13	detected	detected	n/a
	deletion exons 15 – 16	detected	n/a -- insufficient volume	n/a
	deletion exons 16 - 17	detected	detected	n/a
	deletion exon 24	detected	detected	n/a
BRCA2	duplication exons 12 - 13	detected	detected	n/a
EPCAM	deletion exons 2 - 3' UTR	detected	detected	n/a
MLH1	deletion exons 4 - 9	detected	detected	n/a
	deletion exon 13	detected	detected	n/a
	deletion exon 14	detected	detected	n/a
	deletion exon 16	detected	detected	n/a
MSH2	deletion exon 1	detected	detected	n/a
	deletion exons 1 - 6	detected	No Result	n/a
	duplication exons 1 - 6	detected	detected	n/a
	deletion exons 1 - 7	detected	detected	n/a
	deletion exons 1 - 8	detected	detected	n/a
	deletion exons 1 - 10	detected	detected	n/a
	deletion exons 8 - 15	detected	detected	n/a
	deletion exon 16	detected	detected	n/a
MSH6	deletion exons 4 (3' end) - 10	detected	detected	n/a
MUTYH	duplication exon 1	detected	detected	n/a
PMS2	deletion exon 10	n/a	n/a	detected
	deletion exons 1 - 5	n/a	n/a	detected
	deletion exons 13 - 14	n/a	n/a	detected
	deletion exons 14 - 15	n/a	n/a	detected
	deletion exons 9 - 11	n/a	n/a	detected

ISSN: 1471-2407