Article

Perturbation of PALB2 function by the T413S mutation found in small cell lung cancer

2018-01-18

Abstract excerpt

<h4>Background: </h4> Germline mutations in the PALB2 gene are associated with the genetic disorder Fanconi anaemia and increased predisposition to cancer. Disease-associated variants are mainly protein-truncating mutations, whereas a few missense substitutions are reported to perturb its interaction with breast cancer susceptibility proteins BRCA1 and BRCA2, which play essential roles in homology-directed repair...

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Literature Corpus work: 257eea9e-6f3a-5fa4-8495-56437639388b
DOI: 10.12688/wellcomeopenres.13113.2

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