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 mRNA^a

Fenotype^b

Number of families identified

Sequence at breakpoint 5'/3'

1–2

yes

Preisler-Adams et al. del 36.9 kb^c [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.

Vasickova et al. BMC Medical Genetics 2007 8:32   doi:10.1186/1471-2350-8-32