It's too bad they don't name these German immigrants. Maybe more of us could determine that we are affected -----Original Message----- From: steven perkins via <genealogy-dna@rootsweb.com> To: genealogy-dna <genealogy-dna@rootsweb.com> Sent: Tue, Dec 22, 2015 4:42 pm Subject: [DNA] Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1005633Combined Genetic and Genealogic Studies Uncover a Large BAP1 CancerSyndrome Kindred Tracing Back Nine Generations to a Common Ancestor fromthe 1700sAbstract:We recently discovered an inherited cancer syndrome caused byBRCA1-Associated Protein 1 (BAP1) germline mutations, with high incidenceof mesothelioma, uveal melanoma and other cancers and very high penetranceby age 55. To identify families with the BAP1 cancer syndrome, we screenedpatients with family histories of multiple mesotheliomas and melanomasand/or multiple cancers. We identified four families that shared anidentical BAP1mutation: they lived across the US and did not appear to berelated. By combining family histories, molecular genetics, andgenealogical approaches, we uncovered a BAP1 cancer syndrome kindred of~80,000 descendants with a core of 106 individuals, whose members descendfrom a couple born in Germany in the early 1700s who immigrated to NorthAmerica. Their descendants spread throughout the country with mutationcarriers affected by multiple malignancies. Our data show that, once aproband is identified, extended analyses of these kindreds, using genomicand genealogical studies to identify the most recent common ancestor, allowinvestigators to uncover additional branches of the family that may carryBAP1mutations. Using this knowledge, we have identified new branches ofthis family carrying BAP1 mutations. We have also implementedearly-detection strategies that help identify cancers at early-stage, whenthey can be cured (melanomas) or are more susceptible to therapy (MM andother malignancies).Author SummaryGermline BAP1 mutations cause a cancer syndrome characterized by highincidence of mesothelioma (MM), uveal melanoma and other cancers, and byvery high penetrance, as all individuals carrying BAP1 mutations developedat least one, and usually several, malignancies throughout their lives.Through screening MM patients with histories of multiple cancers, we foundfour supposedly unrelated patients that shared an identical germline BAP1mutation. We investigated whether this BAP1 mutation occurred in a‘hot-spot’ for “de novo” mutations or whether these four MM patients shareda common ancestor. Using molecular genomics analyses we found that they arerelated. By genealogic studies we traced their ancestor to a couple thatemigrated from Germany to North America in the early 1700’s; we traced thesubsequent migration of their descendants, who are now living in at leastthree different US States. Our findings demonstrate that BAP1 mutations aretransmitted among subsequent generations over the course of centuries. Thisknowledge and methodology is being used to identify additional branches ofthe family carrying BAP1 mutations. Our study shows that the application ofmodern genomic analyses, coupled with “classical” family historiescollected by the treating physician, and with genealogical searches, offera powerful strategy to identify high-risk germline BAP1 mutation carriersthat will benefit from genetic counseling and early detection cancerscreening.-- Steven C. Perkins SCPerkins@gmail.com http://stevencperkins.com/Indigenous Peoples' Rights http://intelligent-internet.info/law/ipr2.htmlIndigenous & Ethnic Minority Legal News http://iemlnews.blogspot.com/Online Journal of Genetics and Genealogy http://jgg-online.blogspot.com/S.C. Perkins' Genealogy Page http://stevencperkins.com/genealogy.htmlS.C. Perkins' Genealogy Blog http://scpgen.blogspot.com/ -------------------------------To unsubscribe from the list, please send an email to GENEALOGY-DNA-request@rootsweb.com with the word 'unsubscribe' without the quotes in the subject and the body of the message