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Case Reports
. 2022 Jul 1;42(4):497-499.
doi: 10.3343/alm.2022.42.4.497.

Three Cases of False-positive Multiplex Ligation-dependent Probe Amplification of BRCA1

Kyoung Bo Kim  1 , Sunggyun Park  1 , Jung Sook Ha  1 , Namhee Ryoo  1 , Do-Hoon Kim  1
Affiliations
Case Reports

Three Cases of False-positive Multiplex Ligation-dependent Probe Amplification of BRCA1

Kyoung Bo Kim et al. Ann Lab Med. .
No abstract available

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Conflict of interest statement

CONFLICTS OF INTEREST

The authors have no conflicts of interest to declare.

Figures

Fig. 1
Fig. 1
Results of initial MLPA and confirmative tests of the three cases. (A) In the first case, an initial MLPA test with the P002 kit showed abnormal signals, suggesting partial duplication of exon 11 of BRCA1. (B) However, a subsequent confirmative MLPA test using P087 showed no abnormal results. An additional P002 MLPA test using a new venous blood sample showed all signals within normal limits. (C) In the second case, an initial P002 MLPA test revealed a decreased DQ 0.57 for the probe set for exon 1a, suggesting heterozygous deletion of this exon. (D) Direct sequencing of BRCA1 exon 1a revealed a single nucleotide substitution c.-40C>T (indicated by the black arrowhead) in the two-nucleotide region flanking the probe hybridization site. (E) In the third case, an initial P002 MLPA test revealed a decreased DQ 0.69 for the probe set for exon 23. (F) Direct sequencing of exon 23 revealed c.5419A>G (indicated by the black arrowhead) in the four-nucleotide region flanking the probe hybridization site. Probe hybridization sites are indicated in black rectangles. Abbreviations: DQ, dosage quotient; MLPA, multiplex ligation-dependent probe amplification.
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