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

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...

Full description

Bibliographic Details
Main Authors: 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
Format: Online
Language:English
Published: Public Library of Science 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4686043/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4686043/

Similar Items