Table 3.

BRCA1 germline rearrangements identified in the BRCA1 gene

BRCA1 exons involved	Confirmation by long-range PCR	Mutation designation [GenBank: L78833]	Suspected minimal effect on mRNAa	Fenotypeb	Number of families identified	Sequence at breakpoint 5'/3'
1–2	yes	Preisler-Adams et al. del 36.9 kbc [40]	not expressed [19]	HBOC	1	ψ gene/gene HR [40]
5–14	yes	g.21716_53298 del31583	loss of 3/4 of coding sequence	HBC HBOC	4	LINE1/-
Part of 11–12	yes	g.34845_41405 del6561	loss of 1/2 of coding sequence	HOC	1	-/LINE1
18–19	yes	g.63651_65590 del1940	p.Asp1692Ala fsX2	HBOC	1	AluY/AluSp
20	yes	g.68764_75792 del7029	p.His1732_Lys1759del	HBC	1	AluSq/AluSx
21–22	yes	g.77128_80906 del3779ins236	p.Ile1760_Thr1802del	HBC	2	AluSx/AluJb

^aInferred from change at the DNA level.

^bHBC – human breast cancer, HBOC – human breast and ovarian cancer, HOC – human ovarian cancer.

^cBased on the BAC clone sequence AC060780.