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Last Posted: Sep 26, 2023
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Germline Sequencing Analysis to Inform Clinical Gene Panel Testing for Aggressive Prostate Cancer.
Burcu F Darst et al. JAMA Oncol 2023 9

From the abstract: " Do rare pathogenic variants in genes beyond previously established prostate cancer risk genes contribute to risk of aggressive prostate cancer? In this exome-sequencing genetic association study of 17?546 men with aggressive and nonaggressive prostate cancer, an association between known genes BRCA2, ATM, and NBN with aggressive prostate cancer was found. Nominal association evidence was observed for MSH2, XRCC2, and MRE11A. The findings of this study suggest that DNA repair and cancer susceptibility genes can inform disease management in men with nonaggressive prostate cancer, as men carrying deleterious variants in these genes are likely to develop advanced disease."

Factors associated with adherence to BRCA1/2 mutation testing after oncogenetic counseling in long-surviving patients with a previous diagnosis of breast or ovarian cancer.
Silvia Actis et al. J Community Genet 2023 9

From the abstract: "We analyzed socio-demographic and psychological parameters associated with the decision to undergo BRCA1/2 genetic testing or the reasons behind the withdrawal. Thirty-nine patients underwent BRCA1/2 genetic testing. Patients who accept the genetic test communicate more easily with family members than those who refuse. Factors associated with test refusal are having a long-term partner and having a negative perception of life. There is a trend, although not statistically significant, toward younger age at cancer diagnosis, more likely to participate in cancer screening programs (71.8% vs. 45.5%), and more likely to have daughters (63.3% vs. 37.5%) in the group that accepted the test. "

Biomarker-Directed Therapy in Black and White Men With Metastatic Castration-Resistant Prostate Cancer.
Clara Hwang et al. JAMA Netw Open 2023 9 (9) e2334208

From the abstract: "Do disparities exist in the application of precision medicine for Black and White men with metastatic prostate cancer? In this cohort study of 962 men with metastatic castration-resistant prostate cancer, mismatch repair deficiency or microsatellite instability-high was significantly more frequent in Black men than White men. However, Black men were significantly less likely to receive molecularly matched targeted therapy than White men. These findings suggest that although precision medicine in metastatic prostate cancer has become more common, opportunities remain to improve access to precision medicine to benefit Black men with prostate cancer. "

Revolutionizing Cancer Research: The Impact of Artificial Intelligence in Digital Biobanking
C Frascarelli et al, J Per Med, September 2023

From the abstract: "As digital pathology and artificial intelligence (AI) have entered the precision medicine arena, biobanks are progressively transitioning from mere biorepositories to integrated computational databanks. Consequently, the application of AI and machine learning on these biobank datasets holds huge potential to profoundly impact cancer research. Methods. In this paper, we explore how AI and machine learning can respond to the digital evolution of biobanks with flexibility, solutions, and effective services. "

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.