Article
Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s.
PLoS genetics - 1 Dec 2015
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
Abstract excerpt
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 family histories of multiple mesotheliomas and melanomas and/or multiple cancers. We identified four families that...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.