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Last Posted: Mar 31, 2023
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A medley of resistance in ovarian cancers
B Hernando et al, Nature Genetics, February 27, 2023

Multi-omic profiling of lesions at autopsy reveals a plethora of resistance mechanisms present within individual patients with ovarian cancer. This highlights the extreme challenge faced in treating end-stage disease and underscores the need for new methods of early detection and intervention.

Implementing digital systems to facilitate genetic testing for hereditary cancer syndromes: An observational study of four clinical workflows
C Wang et al, Genetics in Medicine, February 10, 2023

This study examined the uptake of genetic counseling and testing following the use of a digital cancer genetic risk assessment program, implemented at 27 health care sites in 10 States using one of four clinical workflows: 1) traditional referral, 2) point-of-care scheduling (POC-S), 3) point-of care counseling/telegenetics (POC-C), and 4) point-of-care testing (POC-T). In 2019, 102,542 patients were screened and 33,113 (32%) were identified as high risk and meeting National Comprehensive Cancer Network (NCCN) genetic testing criteria for Hereditary Breast and Ovarian Cancer, Lynch syndrome or both. Among those identified at high risk, 5147 (16%) proceeded with genetic testing. Genetic counseling uptake was 11% among sites with workflows that included seeing a genetic counselor prior to testing.

Beating the odds: molecular characteristics of long-term survivors of ovarian cancer.
et al. Nature genetics 2022 12

A new study indicates that multiple alterations in DNA repair, including evidence of both BRCA1-type and BRCA2-type homologous recombination deficiency5 within a tumor, might result in particularly profound survival outcomes. The long-term survival of patients whose tumors had CCNE1 amplification is intriguing, and suggests that an engaged tumor-immune microenvironment can overcome the poor primary treatment response typically associated with this biomarker.

The genomic and immune landscape of long-term survivors of high-grade serous ovarian cancer.
Garsed Dale W et al. Nature genetics 2022 12

We analyzed 60 patients with advanced-stage HGSC who survived more than 10 years after diagnosis using whole-genome sequencing, transcriptome and methylome profiling of their primary tumor samples, comparing this data to 66 short- or moderate-term survivors. Tumors of long-term survivors were more likely to have multiple alterations in genes associated with DNA repair and more frequent somatic variants resulting in an increased predicted neoantigen load.

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.