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Table 3 BRCA1 germline rearrangements identified in the BRCA1 gene

From: High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic

BRCA1exons 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
  1. aInferred from change at the DNA level.
  2. bHBC – human breast cancer, HBOC – human breast and ovarian cancer, HOC – human ovarian cancer.
  3. cBased on the BAC clone sequence AC060780.