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Rhianedd Thompson - Cardiff SCOBEC Training Day - Case Reports 15th Oct ‘08

All Wales Molecular Genetics Laboratory. BRCA1 Presymptomatic testing:. Problematic case. Rhianedd Thompson - Cardiff SCOBEC Training Day - Case Reports 15th Oct ‘08. All Wales Molecular Genetics Laboratory. BRCA1 Presymptomatic testing: Problematic case.

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Rhianedd Thompson - Cardiff SCOBEC Training Day - Case Reports 15th Oct ‘08

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  1. All Wales Molecular Genetics Laboratory BRCA1 Presymptomatic testing: Problematic case Rhianedd Thompson - Cardiff SCOBEC Training Day - Case Reports 15th Oct ‘08

  2. All Wales Molecular Genetics Laboratory BRCA1 Presymptomatic testing: Problematic case Reason for referral: Predictive testing requested. Information provided: • Family history of breast and ovarian cancer. • Mutation in family given as: BRCA1 2073insA (exon 11) • Proband name and a DNA reference number. • Letter from Barcelona lab about the familial mutation.

  3. All Wales Molecular Genetics Laboratory BRCA1 (Accession number U14680.1)

  4. All Wales Molecular Genetics Laboratory BRCA1 (Accession number U14680.1)

  5. All Wales Molecular Genetics Laboratory No mutation detected in the positive control. • Checked mutation numbering – appeared to be correct if using BRCA1 U14680.1 reference sequence. • Checked accession number – not given in letter. • Checked which gene – clearly BRCA1 in the letter. • Checked proband’s name – not given in the letter.

  6. All Wales Molecular Genetics Laboratory Spoke to Barcelona. • Definitely BRCA1 • Reference sequence confirmed: accession number U14680.1 • Mutation numbering confirmed as that given in the letter. • Further information obtained = causes a premature stop in at codon 672 • Proband’s name = Correct • Mutation isn’t there = Wrong DNA sample?

  7. All Wales Molecular Genetics Laboratory At what point did the sample mix-up occur? • Barcelona lab confirmed mutation was not present in their stored DNA sample. • Re-extracted from stored blood = mutation present. • Sample mix-up occurred after BRCA screening - familial mutation is genuine. • New sample sent to our lab = mutation present (HGVS = c.1961_1962dupA), predictive result reported.

  8. All Wales Molecular Genetics Laboratory This case highlights: • Need to obtain a copy of original report. • Difficulty in interpreting old mutation numbering systems. • Useful for future work to include the accession number of the reference sequence in report. • Need to keep a Spaniard in the lab.

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