Cancers, Vol. 13, Pages 5240: Precision Oncology of High-Grade Ovarian Cancer Defined through Targeted Sequencing

Conclusions: Tumours from 274 women were sequenced, including high-grade serous carcinoma (n = 252), clear cell carcinoma (n = 4), carcinosarcoma (n = 9), endometrioid carcinoma (n = 3), undifferentiated carcinoma (n = 1), and mixed tumours (n = 5). Genomic profiling did not influence histologic diagnosis. Mutations were identified in TP53, BRCA1, BRCA2, as well as additional homologous recombination repair pathway genes BARD1, ATR, CHEK2, PALB2, RAD51D, RAD50, SLX4, FANCA, RAD51C, and RAD54L. In addition, mutations in PTEN and CDKN2A were identified. Several somatic mutations with implications for germline testing were identified, including RMI1, STK11, and CDH1. Germline testing identified 16 previously unknown BRCA1/2 carriers. Finally, 20 patients were treated with the PARP inhibitor olaparib based on the sequencing results.

Source: Cancers - October 19, 2021 Category: Cancer & Oncology Authors: Sandra Wessman Beatriz Bohorquez Fuentes Therese T örngren Anders Kvist Georgia Kokaraki Hanna Menkens Elisabet Hjerpe Ythalo Hugo Tirzah Braz Petta Åke Borg Joseph W. Carlson Tags: Article Source Type: research