Ontology highlight
ABSTRACT:
SUBMITTER: Pareja F
PROVIDER: S-EPMC6624163 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Pareja Fresia F Lee Ju Youn JY Brown David N DN Piscuoglio Salvatore S Gularte-Mérida Rodrigo R Selenica Pier P Da Cruz Paula Arnaud A Arunachalam Sasi S Kumar Rahul R Geyer Felipe C FC Silveira Catarina C da Silva Edaise M EM Li Anqi A Marchiò Caterina C Ng Charlotte K Y CKY Mariani Odette O Fuhrmann Laetitia L Wen Hannah Y HY Norton Larry L Vincent-Salomon Anne A Brogi Edi E Reis-Filho Jorge S JS Weigelt Britta B
Journal of the National Cancer Institute 20190701 7
Mucinous carcinoma of the breast (MCB) is a rare histologic form of estrogen receptor (ER)-positive/HER2-negative breast cancer (BC) characterized by tumor cells floating in lakes of mucin. We assessed the genomic landscape of 32 MCBs by whole-exome sequencing and/or RNA-sequencing. GATA3 (23.8%), KMT2C (19.0%), and MAP3K1 (14.3%) were the most frequently mutated genes in pure MCBs. In addition, two recurrent but not pathognomonic fusion genes, OAZ1-CSNK1G2 and RFC4-LPP, were detected in 3/31 (9 ...[more]