BAP1 regulates different mechanisms of cell death

El Bachir Affar; Michele Carbone

doi:10.1038/s41419-018-1206-5

November 19, 2018Cell Death and DiseaseOpen Access

BAP1 regulates different mechanisms of cell death

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Key Points

To outline the biological role of the deubiquitinating enzyme BAP1 in controlling cell death pathways and predisposing carriers to malignant diseases.
Analyzed genomic and clinical records from families exhibiting high hereditary incidence of mesothelioma.
Identified and tracked heterozygous germline BAP1 mutation carriers across more than 100 affected kindreds worldwide.
Heterozygous germline BAP1 mutations (BAP1+/-) were confirmed in all affected members of families with clustered mesothelioma, establishing BAP1 cancer syndrome.
Every identified carrier of heterozygous germline BAP1 mutations developed at least one malignancy during their lifetime, demonstrating complete clinical penetrance.

Implication

Genetic pedigree analysis reveals universal cancer incidence in carriers of heterozygous BAP1 mutations, indicating its critical role in regulating cell death and tumor suppression.

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Cite This Study

Affar et al. (2018) studied this question.

synapsesocial.com/papers/6aaa014cdbbe4230954817be https://doi.org/10.1038/s41419-018-1206-5

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BAP1 regulates different mechanisms of cell death

Key Points

Implication

Discussion

Cite This Study

BAP1 regulates different mechanisms of cell death

Key Points

Implication

Discussion

Cite This Study

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