Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers.

@article{AbdelRahman2011GermlineBM,
  title={Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers.},
  author={Mohamed H Abdel-Rahman and Robert T. Pilarski and Colleen M. Cebulla and James B. Massengill and Benjamin N Christopher and Getachew Boru and Peter Hovland and Frederick H. Davidorf},
  journal={Journal of medical genetics},
  year={2011},
  volume={48 12},
  pages={
          856-9
        }
}
OBJECTIVE To investigate the potential contribution of germline sequence alterations in the BAP1 gene in uveal melanoma (UM) patients with possible predisposition to hereditary cancer. DESIGN A total of 53 unrelated UM patients with high risk for hereditary cancer and five additional family members of one proband were studied. Mutational screening was carried out by direct sequencing. RESULTS Of the 53 UM patients studied, a single patient was identified with a germline BAP1 truncating… CONTINUE READING

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References

Publications referenced by this paper.
SHOWING 1-10 OF 20 REFERENCES

Contribution of CDKN 2 A / P 16 ( INK 4 A ) , P 14 ( ARF ) , CDK 4 and BRCA 1 / 2 germline mutations in individuals with suspected genetic predisposition to uveal melanoma

B Buecher, M Gauthier-Villars, +8 authors D Stoppa-Lyonnet
  • Fam Cancer
  • 2010

Genetic sequence variations of BRCA 1interacting genes AURKA , BAP 1 , BARD 1 and DHX 9 in French Canadian families with high risk of breast cancer

F Guénard, Y Labrie, +3 authors INHERIT BRCAs
  • J Hum Genet
  • 2009

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