Table 1

FA patients with biallelic mutations inBRCA2. U/A, unassigned FA subtype. BIC, Breast Cancer Information Core. Seewww.nhgri.nih.gov/Intramural_research/Lab_transfer/Bic. Dashes indicate no recorded BIC entry.

Cell lineFA subtypeAllele 1Allele 2
Mutation (exon)BIC entryMutation (exon)BIC entry
HSC62D1IVS19-1IVS19-1
G to AG to A*
(20)(20)
EUFA423D17691/insAT9900/insA4
(15)(27)
HSC230B3033/delMany10204Many
AAACA to T
(11)(27)
EUFA579U/A7235 G to A158371
(13)TC to AG
(11)
AP37PU/A8415 G to T28732 C to A1
(18)(20)
  • * Family history of consanguinity.

  • Polymorphic STOP variant (ter3326).