Article

Bilallelic germline mutations in <i>MAD1L1</i> induce a novel syndrome of aneuploidy with high tumor susceptibility

2022-08-08

Abstract excerpt

Aneuploidy is a frequent feature of human tumors. Germline mutations leading to aneuploidy are very rare in humans, and their tumor-promoting properties are mostly unknown at the molecular level. We report here novel germline biallelic mutations in MAD1L1 , the gene encoding the Spindle Assembly Checkpoint (SAC) protein MAD1, in a 36-year-old female with a dozen of neoplasias, including five malignant tumors. Fun...

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Identifiers and source

Literature Corpus work: 11914974-5fe0-54ed-a800-dfc4fac92a89
DOI: 10.1101/2022.08.08.503198

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