High-throughput functional analysis of PALB2 variants

Genetic testing of cancer susceptibility genes frequently reveals missense variants of uncertain significance (VUS) for which the impact on protein function and cancer risk are unclear. Determining the functional impact of these missense VUS can be essential for the clinical interpretation of PALB2 missense VUS and clinical management of carriers.

癌症易感基因的遗传检测常会检出意义未明错义变异（missense variants of uncertain significance, VUS），此类变异对蛋白质功能及癌症风险的影响尚未明确。明确这类意义未明错义变异的功能影响，对于PALB2基因意义未明错义变异的临床解读，以及变异携带者的临床管理均至关重要。