PALB2 loss-of-function variants are associated with increased risk of breast and other cancers, but the clinical relevance of missense variants (MVs) remains uncertain. Recent findings reported by Wiltshire et al., Rodrigue et al., and Boonen et al. demonstrate that some MVs disrupt PALB2 function. This new information will support the clinical management of families who carry these MVs and inform their treatment.

中文翻译：

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PALB2基因变异：功能分析可以协助翻译吗？

PALB2功能丧失的变异与乳腺癌和其他癌症的风险增加相关，但错义变异（MVs）的临床相关性仍不确定。Wiltshire等报道的最新发现。，Rodrigue等。，和Boonen等。证明某些MV破坏了PALB2功能。这些新信息将支持携带这些MV并告知其治疗方法的家庭的临床管理。