IndraLab
Statements
sparser
"We previously validated IHC assays with Sanger sequencing to evaluate PBRM1 and BAP1 protein expression in which negative nuclear staining associates with PBRM1 and BAP1 mutations. xref , xref We used background stroma and lymphocyte nuclei as a positive control, and therefore, we excluded from our analysis samples that lacked stroma/lymphocyte nuclear staining, focal negative or weak positive staining in these cells ( xref )."
sparser
"Similarly, the chromatin accessibility changes associated with the chromatin modifiers BAP1 and PBRM1 described in this manuscript will benefit from additional epigenetic assays such as ChIP-seq and transposase-directed transposon insertion mapping to ascertain the direct effect of BAP1 and PBRM1 on the candidate affected genes."
reach
"All three genes are located on chromosome 3p, as is VHL and as noted earlier, inactivation of both VHL and Bap1 in mice leads to both cystic and neoplastic lesions [86]; clearly, definition of the functional interactions between VHL, BAP1, PBRM1, and SET is a topic of urgent interest."
sparser
"Gerlinger and
colleagues have shown that intragenic VHL mutations and loss of 3p
are the only uniformly truncal events in ccRCC.( xref ) We have shown that loss of PBRM1 and BAP1 are mutually exclusive and
that loss of PBRM1 is associated with better outcomes than loss of BAP1.( xref , xref , xref ) Herein we validate previous results
from a meta-analysis showing that PBRM1 and SETD2 mutations cooperate in ccRCC.( xref )
Specifically, we find that H3K36me3 loss is 3 times more likely in PBRM1-negative
tumors than in those that express PBRM1."
sparser
"In pleural and peritoneal mesothelioma, co-occurring alterations occurred on the same chromosome or in close proximity for PBRM1–BAP1 (both 3p21) and SETD2–BAP1 (both 3p21), which was observed in the TCGA cohort but not in the recent publication by Zauderer and colleagues [ xref ]."