Comparing mutation frequencies for homologous recombination genes in uterine serous and high-grade serous ovarian carcinomas: A case for homologous recombination deficiency testing in uterine serous carcinoma

To compare the frequencies of somatic homologous recombination (HR) gene mutations identified in next-generation sequencing (NGS) genomic profiling of uterine serous carcinomas (USCs) and high-grade serous ovarian carcinomas (HGSOCs). Data for this analysis was obtained from AACR Project GENIE, a mu...

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Bibliographic Details
Published in:Gynecologic oncology 2020-11, Vol.159 (2), p.381-386
Main Authors: Wallbillich, John J., Morris, Robert T., Ali-Fehmi, Rouba
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
BRCA1 Protein
BRCA2 Protein
Cystadenocarcinoma, Serous - genetics
Female
Germ-Line Mutation
High-Throughput Nucleotide Sequencing
Homologous Recombination
Humans
Middle Aged
Mutation Rate
Ovarian Neoplasms - genetics
Uterine Neoplasms - genetics
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Summary:To compare the frequencies of somatic homologous recombination (HR) gene mutations identified in next-generation sequencing (NGS) genomic profiling of uterine serous carcinomas (USCs) and high-grade serous ovarian carcinomas (HGSOCs). Data for this analysis was obtained from AACR Project GENIE, a multi-institutional dataset of clinical-grade NGS genomic profiling results for many cancer sites and histologic subtypes, through cBioPortal. Patient/specimen groups used for analysis were USC and HGSOC. 14 HR genes were queried for each group with respect to mutation frequency. For each HR gene, the difference in mutation frequency between the two groups was evaluated using Fisher's exact test. The threshold for statistical significance was p-value 
ISSN:0090-8258
1095-6859
DOI:10.1016/j.ygyno.2020.08.012