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Article

Missense PALB2 germline variant disrupts nuclear localization of PALB2 in a patient with breast cancer.

Familial cancer - 1 Apr 2020

Toh Ming Ren, Low Chen Ee, Chong Siao Ting, Chan Sock Hoai, Ishak Nur Diana Binte, Courtney Eliza, Kolinjivadi Arun Mouli, Rodrigue Amélie, Masson Jean-Yves, Ngeow Joanne

Abstract excerpt

The PALB2 protein is essential to RAD51-mediated homologous recombination (HR) repair. Germline monoallelic PALB2 pathogenic variants confer significant risks for breast cancer. However, the majority of PALB2 variants remain classified as variants of unknown significance (VUS). We aim to functionally and mechanistically evaluate three novel PALB2 VUS. Patient-derived lymphoblastoid cell lines containing the VUS...

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PMID: 32048105
DOI: 10.1007/s10689-020-00163-8

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