Breast carcinomas associated with microglandular adenosis are linked to germline alterations in homologous recombination-deficiency genes Journal Article

   

Authors:	Schwartz, C. J.; Genco, I.; Repetto, M.; Muldoon, D.; Gazzo, A.; Terraf, P.; Grabenstetter, A.; Ross, D.; Zhang, H.; Mandelker, D.; Powell, S.; Weigelt, B.; Bandlamudi, C.; Brogi, E.; Pareja, F.; Wen, H. Y.
Article Title:	Breast carcinomas associated with microglandular adenosis are linked to germline alterations in homologous recombination-deficiency genes
Abstract:	Invasive breast carcinomas associated with microglandular adenosis (IBC-MGA) represent a rare and poorly characterized form of triple-negative breast cancer (TNBC). We analyzed clinical, pathological, and germline genetic data from 38 patients, including 34 IBC-MGAs and 4 in situ cases. Germline pathogenic or likely pathogenic variants in homologous recombination-deficiency (HRD) genes were found in 42% (16/38) of patients, predominantly in BRCA1 (81%, 13/16). Most tumors were grade 3 invasive ductal or metaplastic carcinomas with limited tumor-infiltrating lymphocytes. No significant clinicopathologic differences were observed between germline HRD-associated and sporadic cases. Paired tumor-normal targeted sequencing revealed frequent TP53 mutations and high HRD scores. These findings underscore the relationship of breast carcinomas associated with MGA with HRD-related germline variants and highlight the potential for targeted therapeutic strategies and the importance of genetic testing in this rare subset of TNBC. © The Author(s) 2025.
Journal Title:	npj Breast Cancer
Volume:	11
ISSN:	2374-4677
Publisher:	Nature Publishing Group
Date Published:	2025-07-22
Start Page:	76
Language:	English
DOI:	10.1038/s41523-025-00794-z
PROVIDER:	scopus
PMCID:	PMC12280099
PUBMED:	40691172
DOI/URL:	https://www.scopus.com/inward/record.uri?eid=2-s2.0-105011353819&doi=10.1038%2fs41523-025-00794-z&partnerID=40&md5=c2016ebd3e838ff50d4302f5c7306cfc
Notes:	The MSK Cancer Center Support Grant (P30 CA008748) is acknowledged in the PubMed record and PDF. Corresponding MSK authors are Fresia Pareja and Hannah Y. Wen -- Source: Scopus

https://synapse.mskcc.org/synapse/works/has_related_data_chk/227349