Immune infiltration, aggressive pathology, and poor survival outcomes in RECQL helicase deficient breast cancers

Bibliographic Details
Title: Immune infiltration, aggressive pathology, and poor survival outcomes in RECQL helicase deficient breast cancers
Authors: Ayat Lashen, Abdulbaqi Al-Kawaz, Jennie N Jeyapalan, Shatha Alqahtani, Ahmed Shoqafi, Mashael Algethami, Michael Toss, Andrew R Green, Nigel P Mongan, Sudha Sharma, Mohammad R Akbari, Emad A Rakha, Srinivasan Madhusudan
Source: Neoplasia: An International Journal for Oncology Research, Vol 47, Iss , Pp 100957- (2024)
Publisher Information: Elsevier, 2024.
Publication Year: 2024
Collection: LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens
Subject Terms: RECQL, CD8, FOXP3, IL17, PDL1, PD1, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
More Details: RECQL is essential for genomic stability. Here, we evaluated RECQL in 449 pure ductal carcinomas in situ (DCIS), 152 DCIS components of mixed DCIS/invasive breast cancer (IBC) tumors, 157 IBC components of mixed DCIS/IBC and 50 normal epithelial terminal ductal lobular units (TDLUs). In 726 IBCs, CD8+, FOXP3+, IL17+, PDL1+, PD1+ T-cell infiltration (TILs) were investigated in RECQL deficient and proficient cancers. Tumor mutation burden (TMB) was evaluated in five RECQL germ-line mutation carriers with IBC by genome sequencing. Compared with normal epithelial cells, a striking reduction in nuclear RECQL in DCIS was evident with aggressive pathology and poor survival. In RECQL deficient IBCs, CD8+, FOXP3+, IL17+ or PDL1+ TILs were linked with aggressive pathology and shorter survival. In germline RECQL mutation carriers, increased TMB was observed in 4/5 tumors. We conclude that RECQL loss is an early event in breast cancer and promote immune cell infiltration.
Document Type: article
File Description: electronic resource
Language: English
ISSN: 1476-5586
Relation: http://www.sciencedirect.com/science/article/pii/S1476558623000805; https://doaj.org/toc/1476-5586
DOI: 10.1016/j.neo.2023.100957
Access URL: https://doaj.org/article/49f4f85691f14003931c5bd5105aab22
Accession Number: edsdoj.49f4f85691f14003931c5bd5105aab22
Database: Directory of Open Access Journals
More Details
ISSN:14765586
DOI:10.1016/j.neo.2023.100957
Published in:Neoplasia: An International Journal for Oncology Research
Language:English