Higinio Dopeso

Abstract CDH1 (E-cadherin) bi-allelic inactivation is the hallmark alteration of breast invasive lobular carcinoma (ILC), resulting in its discohesive phenotype. A subset of ILCs, however, lack CDH1 genetic/epigenetic inactivation, and their genetic underpinning is unknown. Through clinical targeted sequencing data reanalysis of 364 primary ILCs, we identified 25 ILCs lacking CDH1 bi-allelic genetic alterations. CDH1 promoter methylation was frequent (63%) in these cases.

MV, FD and ADCP are joint first authors. Handling editor Runjan Chetty. Twitter @FresiaPareja Contributors JSR-F and FP conceived and planned the study. MV, FD, JRS-F and FP reviewed the cases. MV, FD, ADCP, HD, AM, AMG, DB, PS, DSR, PR, HZ, BW, HYW, EB, JSR-F and FP analysed and interpreted the data. MV, FD and FP wrote the first manuscript, which was reviewed by all coauthors. MV, FD and ADCP contributed equally to this study.

Abstract Cell-intrinsic mechanisms of immunogenicity in ovarian cancer (OC) are not well understood. The presence of damaging mutations in the SWI/SNF chromatin remodeling complex, such as the SMARCA4 (BRG1) catalytic subunit, has been associated with improved response to ICB, however the mechanism by which this occurs is unclear. The aim of this current study was to examine the alterations in tumor cell-intrinsic and extrinsic immune signaling caused by SMARCA4 loss.