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BRCA Biomarkers

News and reporting on BRCA biomarkers.

Two new studies revealed the prevalence of pathogenic variants in breast cancer-related genes, while highlighting genes that may be most informative in the clinic.

In PNAS this week: targeting progesterone signaling in ovarian cancer, LINE-1 retrotransposition events in adenocarcinomas, and more.

Using tumor and matched normal sequence data generated for tens of thousands of cancer patients, the team identified mosaic cancer susceptibility in around one in 1,000 cases.

The nationwide study will enroll prostate cancer patients who do and don't meet current guidelines and assess how access to genetic information impacts their care. 

Most of the disease risk carriers identified in the Healthy Nevada Project did not meet clinical guidelines for screening, according to the new analysis.

An analysis of societal and health system cost-effectiveness and outcomes points to the benefits of expanding pathogenic BRCA1/2 variant testing in six countries.

The analysis suggested survival and other benefits for breast cancer patients with BRCA1/2 mutations who were aware of their germline risk before diagnosis.

A Myriad Genetics-funded team found that an 86-SNV polygenic score could modify breast cancer risk in women with pathogenic mutations in cancer risk genes.

In PLOS this week: FANCJ mutations linked to increased sensitivity to certain drugs, host genetic factors influence wound microbiomes, and more.

The framework is meant to guide healthcare providers in facilitating prostate cancer genetic testing in a timely and responsible way, the researchers said.

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Imperial College London researchers are shifting away from testing a COVID-19 vaccine to focus on combating newly emerging SARS-CoV-2 variants, the Independent says.

According to the Associated Press, genetic genealogy has helped law enforcement officials identify an unknown victim of the Green River Killer.

In PNAS this week: target to reduce chemotherapy-induced cardiac injury, tool finds ancient endogenous RNA viruses, and more.

Moderna reports its vaccine is effective against new SARS-CoV-2 strains, though it is also developing a booster, according to the New York Times.