Synapse - The genomic landscape of mucinous breast cancer

The genomic landscape of mucinous breast cancer Journal Article

Authors:	Pareja, F.; Lee, J. Y.; Brown, D. N.; Piscuoglio, S.; Gularte-Merida, R.; Selenica, P.; Da Cruz Paula, A.; Arunachalam, S.; Kumar, R.; Geyer, F. C.; Silveira, C.; da Silva, E. M.; Li, A.; Marchiò, C.; Ng, C. K. Y.; Mariani, O.; Fuhrmann, L.; Wen, H. Y.; Norton, L.; Vincent-Salomon, A.; Brogi, E.; Reis-Filho, J. S.; Weigelt, B.
Article Title:	The genomic landscape of mucinous breast cancer
Abstract:	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 (9.7%) and 2/31 (6.5%) samples, respectively. Compared with ER-positive/HER2-negative common forms of BC, MCBs displayed lower PIK3CA and TP53 mutation rates and fewer concurrent 1q gains and 16q losses. Clonal decomposition analysis of the mucinous and ductal components independently microdissected from five mixed MCBs revealed that they are clonally related and evolve following clonal selection or parallel evolution. Our findings indicate that MCB represents a genetically distinct ER-positive/HER2-negative form of BC.
Keywords:	tumors; progression; carcinoma; differentiation; pure
Journal Title:	JNCI: Journal of the National Cancer Institute
Volume:	111
Issue:	7
ISSN:	0027-8874
Publisher:	Oxford University Press
Date Published:	2019-07-01
Start Page:	737
End Page:	741
Language:	English
ACCESSION:	WOS:000484372900015
DOI:	10.1093/jnci/djy216
PROVIDER:	wos
PMCID:	PMC6624163
PUBMED:	30649385
Notes:	Article -- djy216 -- Source: Wos