Disease relevance of Bap1

• A mouse model for the molecular characterization of brca1-associated ovarian carcinoma [1].
• These invasive adenocarcinomas were histologically quite uniform, exhibiting predominantly a solid, nodular tumor pattern with very few variants, in striking contrast to the morphological heterogeneity of analogous Brca1-associated tumors [2].
• We demonstrate that p53 plays an essential role in Brca1-associated lymphoma, as all the tumors from Brca1(delta11/delta11)p53(+/-) mice exhibit LOH of p53 and Brca1(delta11/delta11)p53(-/-) mice exhibited accelerated tumorigenesis [3].
• The majority of BRCA1 mutations produce a truncated protein and BRCA1-associated breast tumors exhibit a number of defined tumor phenotypes [4].

High impact information on Bap1

• In addition, we generated cell lines from mammary tumors and found that the cells retained many of the genetic changes found in the primary tumors, suggesting that these genes may be players in Brca1-associated tumorigenesis [5].
• Hybridization revealed small (<3-fold) increases or decreases in the transcripts of more than 15 genes, including some implicated in cell cycle control (e.g., BTG, Bap1) or apoptosis (e.g., STAT1, calpain), but no marked changes like those associated with other forms of T-cell death [6].

References