'Personalized Genome' Sequencing Finds Gene Mutation Linked To Pancreatic Cancer

Thursday, March 5, 2009 - 15:28 in Biology & Nature

Scientists at the Sol Goldman Pancreatic Cancer Research Center at the Johns Hopkins Kimmel Cancer Center have used "personalized genome" sequencing on an individual with a hereditary form of pancreatic cancer to locate a mutation in a gene called PALB2 that is responsible for initiating the disease. The discovery marks their first use of a genome scanning system to uncover suspect mutations in normal inherited genes. The coding error in PALB2, which stands for "partner and co-localizer of BRCA2" causes a shortened version of the protein encoded by this gene, rendering it incapable of working with another cancer-related gene, BRCA2, to repair broken DNA. Mutations in BRCA2 are also known to cause hereditary forms of cancer.  read more

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