Presentation is loading. Please wait.

Presentation is loading. Please wait.

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

Similar presentations


Presentation on theme: "All Wales Molecular Genetics Laboratory BRCA1 Presymptomatic testing: Problematic case Rhianedd Thompson - Cardiff SCOBEC Training Day - Case Reports 15th."— Presentation transcript:

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

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

3 All Wales Molecular Genetics Laboratory BRCA1 (Accession number U )

4 All Wales Molecular Genetics Laboratory BRCA1 (Accession number U )

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

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

7  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. At what point did the sample mix-up occur?  New sample sent to our lab = mutation present (HGVS = c.1961_1962dupA), predictive result reported. All Wales Molecular Genetics Laboratory

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


Download ppt "All Wales Molecular Genetics Laboratory BRCA1 Presymptomatic testing: Problematic case Rhianedd Thompson - Cardiff SCOBEC Training Day - Case Reports 15th."

Similar presentations


Ads by Google