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Compromised BRCA1-PALB2 interaction is associated with breast cancer risk.
Foo TK, Tischkowitz M, Simhadri S, Boshari T, Zayed N, Burke KA, Berman SH, Blecua P, Riaz N, Huo Y, Ding YC, Neuhausen SL, Weigelt B, Reis-Filho JS, Foulkes WD, Xia B. Foo TK, et al. Oncogene. 2017 Jul 20;36(29):4161-4170. doi: 10.1038/onc.2017.46. Epub 2017 Mar 20. Oncogene. 2017. PMID: 28319063 Free PMC article.
Functional analyses showed that L35P abrogates the PALB2-BRCA1 interaction and completely disables its abilities to promote HR and confer resistance to platinum salts and PARP inhibitors. ...Our findings establish L35P as the first pathogenic missense mutatio …
Functional analyses showed that L35P abrogates the PALB2-BRCA1 interaction and completely disables its abilities to pro …
Functional assessment of missense variants of uncertain significance in the cancer susceptibility gene PALB2.
Wu S, Qi L, Chen H, Zhang K, He J, Guo X, Shen L, Zhou Y, Zhong X, Zheng S, Zhou J, Chen Y. Wu S, et al. NPJ Breast Cancer. 2022 Jul 19;8(1):86. doi: 10.1038/s41523-022-00454-6. NPJ Breast Cancer. 2022. PMID: 35853885 Free PMC article.
The p.L24F and p.L35F variants partially disrupted BRCA1-PALB2 interactions, reduced RAD51 foci formation in response to DNA damage, abrogated ionizing radiation-induced G2/M checkpoint maintenance, and conferred increased sensitivity to olaparib and cisplati …
The p.L24F and p.L35F variants partially disrupted BRCA1-PALB2 interactions, reduced RAD51 foci formation in response t …