Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s

We recently discovered an inherited cancer syndrome caused by BRCA1-Associated Protein 1 (BAP1) germline mutations, with high incidence of mesothelioma, uveal melanoma and other cancers and very high penetrance by age 55. To identify families with the BAP1 cancer syndrome, we screened patients with...

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Detalles Bibliográficos
Autores principales: Carbone, Michele, Flores, Erin G., Emi, Mitsuru, Johnson, Todd A., Tsunoda, Tatsuhiko, Behner, Dusty, Hoffman, Harriet, Hesdorffer, Mary, Nasu, Masaki, Napolitano, Andrea, Powers, Amy, Minaai, Michael, Baumann, Francine, Bryant-Greenwood, Peter, Lauk, Olivia, Kirschner, Michaela B., Weder, Walter, Opitz, Isabelle, Pass, Harvey I., Gaudino, Giovanni, Pastorino, Sandra, Yang, Haining
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4686043/
https://www.ncbi.nlm.nih.gov/pubmed/26683624
http://dx.doi.org/10.1371/journal.pgen.1005633

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4686043/
https://www.ncbi.nlm.nih.gov/pubmed/26683624
http://dx.doi.org/10.1371/journal.pgen.1005633

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