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  1. Mar 2021
    1. Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.

      AssayResult: 0.01 µM: 90; 0.1 µM: 60; 0.8 µM: 15; 1 µM: 15

      AssayResultAssertion: Abnormal

      Approximation: Exact cisplatin concentrations and assay result values not reported; values estimated from Figures 4b and 4d.

    2. p.A1025R is known to disrupt the interaction between the C-terminus of PALB2 and BRCA2

      HGVS: NM_024675.3:c.3073_3074delinsCG p.(Ala1025Arg)

    3. Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.

      AssayResult: 0.01 µM: 60; 0.08 µM: 55; 0.8 µM: 40; 8 µM: 15

      AssayResultAssertion: Abnormal

      Approximation: Exact Olaparib concentrations and assay result values not reported; values estimated from Figures 4a and 4c.

      Comment: This variant was used as an abnormal control in other assays in this publication, but it was not specifically designated as a control in this assay.

    1. Source Data

      AssayResult: 24.27

      AssayResultAssertion: Abnormal

      ReplicateCount: Not reported

      StandardErrorMean: Not reported

      Comment: Exact values reported in “Supplementary Data 1” file; result for this variant not reported in “Source Data” file.

    2. Source Data

      AssayResult: 17.62

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.76

      StandardErrorMean: 1.25

      Comment: Exact values reported in “Source Data” file.

    3. We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3073_3074delinsCG p.(A1025R)