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Cancer PHGKB

Specific PHGKB|Cancer|PHGKB
Last Posted: Apr 22, 2021
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Patient-reported anticipated barriers and benefits to sharing cancer genetic risk information with family members
KS Finn et al, EJHG, April 19, 2021

Participants’ intent to share with parents, siblings, and children was inversely related to the number of anticipated barriers to sharing and directly related to the number of anticipated benefits to sharing. Of those participants who did not intend to share with parents, siblings, and adult children, 64.8%, 30.3%, and 67.6% reported that there were no barriers, while 17.1%, 24.5%, and 40.2.% reported there were no benefits.

Interpretable survival prediction for colorectal cancer using deep learning
E Wulczyn et al, NPJ Digital Medicine, April 19, 2021

Deriving interpretable prognostic features from deep-learning-based prognostic histopathology models remains a challenge. We developed a deep learning system for predicting survival for stage II and III colorectal cancer using 3652 cases. When evaluated on two validation datasets containing 1239 cases and 738 cases, respectively, the DLS achieved a 5-year disease-specific survival AUC of 0.70 and 0.69 and added significant predictive value to a set of nine clinicopathologic features.

Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
EC Chao et al, Genetics in Medicine, April 16, 2021

Professional recommendations are needed to help standardize laboratory practices for identifying and interpreting variants that are at an increased risk for being of true hematopoietic origin. These points to consider will provide guidance for laboratories, focused on NGS testing for constitutional (Mendelian) disorders, to identify and investigate potential somatic or acquired variants as well as recommendations for ancillary testing and options for clinical diagnosis.

Genomic Risk Score for Melanoma in a Prospective Study of Older Individuals.
Bakshi Andrew et al. Journal of the National Cancer Institute 2021 4

We assessed a PRS for cutaneous melanoma comprising 55 variants in a prospective study of 12,712 individuals in the ASPirin in Reducing Events in the Elderly trial. We evaluated incident melanomas diagnosed during the trial and prevalent melanomas diagnosed pre-enrolment. We found that a genomic risk score is associated with melanoma risk in older individuals, and may contribute to targeted surveillance.


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Micro-costing diagnostics in oncology: from single-gene testing to whole genome sequencing. External Web Site Icon
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Disclaimer: Articles listed in the Public 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.

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