Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s.
| Title: | Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s. |
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| Authors: | Michele Carbone, Erin G Flores, Mitsuru Emi, Todd A Johnson, Tatsuhiko Tsunoda, Dusty Behner, Harriet Hoffman, Mary Hesdorffer, Masaki Nasu, Andrea Napolitano, Amy Powers, Michael Minaai, Francine Baumann, Peter Bryant-Greenwood, Olivia Lauk, Michaela B Kirschner, Walter Weder, Isabelle Opitz, Harvey I Pass, Giovanni Gaudino, Sandra Pastorino, Haining Yang |
| Source: | PLoS Genetics, Vol 11, Iss 12, p e1005633 (2015) |
| Publisher Information: | Public Library of Science (PLoS), 2015. |
| Publication Year: | 2015 |
| Collection: | LCC:Genetics |
| Subject Terms: | Genetics, QH426-470 |
| More Details: | 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 shared an identical BAP1 mutation: they lived across the US and did not appear to be related. By combining family histories, molecular genetics, and genealogical approaches, we uncovered a BAP1 cancer syndrome kindred of ~80,000 descendants with a core of 106 individuals, whose members descend from a couple born in Germany in the early 1700s who immigrated to North America. Their descendants spread throughout the country with mutation carriers affected by multiple malignancies. Our data show that, once a proband is identified, extended analyses of these kindreds, using genomic and genealogical studies to identify the most recent common ancestor, allow investigators to uncover additional branches of the family that may carry BAP1 mutations. Using this knowledge, we have identified new branches of this family carrying BAP1 mutations. We have also implemented early-detection strategies that help identify cancers at early-stage, when they can be cured (melanomas) or are more susceptible to therapy (MM and other malignancies). |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 1553-7390 1553-7404 |
| Relation: | http://europepmc.org/articles/PMC4686043?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404 |
| DOI: | 10.1371/journal.pgen.1005633 |
| Access URL: | https://doaj.org/article/64755c81fd7d4c47950d20661ebccf65 |
| Accession Number: | edsdoj.64755c81fd7d4c47950d20661ebccf65 |
| Database: | Directory of Open Access Journals |
| ISSN: | 15537390 15537404 |
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| DOI: | 10.1371/journal.pgen.1005633 |
| Published in: | PLoS Genetics |
| Language: | English |