Higinio Dopeso, Andrea M Gazzo, Fatemeh Derakhshan, David N Brown, Pier Selenica, Sahar Jalali, Arnaud Da Cruz Paula, Antonio Marra, Edaise M da Silva, Thais Basili, Laxmi Gusain, Lorraine Colon-Cartagena, Shirin Issa Bhaloo, Hunter Green, Chad Vanderbilt, Steffi Oesterreich, Anne Grabenstetter, M Gabriela Kuba, Dara Ross, Dilip Giri, Hannah Y Wen, Hong Zhang, Edi Brogi, Britta Weigelt, Fresia Pareja, Jorge S Reis-Filho
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. Targeted sequencing reanalysis revealed 3 ILCs harboring AXIN2 deleterious fusions (n = 2) or loss-of-function mutation (n = 1)...
February 12, 2024: NPJ Precision Oncology