Dr. Chern on Important Germline and Somatic Mutations in Ovarian Cancer

Jeannie Chern, MD
Published: Monday, Feb 17, 2020



Jeannie Chern, MD, a gynecologic oncologist at Moffitt Cancer Center, discusses important germline and somatic mutations to be aware of in ovarian cancer.

The high penetrance genes are the BRCA1/2 mutations, says Chern. Moderate penetrance genes include BRIP1, RAD51C, and RAD51D. The relationship between other mismatch repair genes like the Lynch syndrome genes are also being investigated. The homologous recombination deficiency genes also play a role in the space and may have therapeutic implications, adds Chern.

The first preclinical data with PARP inhibitors emerged in 2005. Now, these agents are indicated for use in the recurrent and frontline maintenance settings. The identification of these gene mutations and their role in treatment has significantly prolonged patients’ progression-free survival. As the field understands these mechanisms better, the role of treatment will continue to evolve, concludes Chern.
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Jeannie Chern, MD, a gynecologic oncologist at Moffitt Cancer Center, discusses important germline and somatic mutations to be aware of in ovarian cancer.

The high penetrance genes are the BRCA1/2 mutations, says Chern. Moderate penetrance genes include BRIP1, RAD51C, and RAD51D. The relationship between other mismatch repair genes like the Lynch syndrome genes are also being investigated. The homologous recombination deficiency genes also play a role in the space and may have therapeutic implications, adds Chern.

The first preclinical data with PARP inhibitors emerged in 2005. Now, these agents are indicated for use in the recurrent and frontline maintenance settings. The identification of these gene mutations and their role in treatment has significantly prolonged patients’ progression-free survival. As the field understands these mechanisms better, the role of treatment will continue to evolve, concludes Chern.



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