Britta Weigelt, PhD
Among the main histologic subtypes of epithelial ovarian carcinoma, high-grade serous carcinoma, clear cell carcinoma, and endometroid carcinoma have associated hereditary cancer syndromes with which molecular testing can be used to tease out the best intervention for patients.
In identifying these mutations, it’s important to understand the difference between germline and somatic mutations, said Britta Weigelt, PhD, in a presentation during the 2019 OncLive®
State of the Science Summit™ on Ovarian Cancer and Soft Tissue Sarcoma.
At the meeting, Weigelt, director of the Gynecology DMT Research Laboratory at Memorial Sloan Kettering Cancer Center, explained that the presence of both germline and somatic mutations confer potential implications on treatment decisions, although germline mutations carry an added cancer risk.
High-Grade Serous Carcinoma
Approximately 70% of all epithelial ovarian cancers are high grade, and are predominantly characterized by somatic TP53
mutations, with rare somatic mutations in BRCA1/2
, and NF1
. Additionally, high-grade cancers are characterized by high levels of genomic instability measured by the number of copy alterations, said Weigelt.
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