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Cancer PHGKB

Specific PHGKB|Cancer|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last Posted: Apr 25, 2024
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Development and Validation of an 18-Gene Urine Test for High-Grade Prostate Cancer
(Posted Apr 21, 2024 8AM)

From the article: "Can a new 18-gene urinary test for high-grade prostate cancer (ie, grade group [GG] 2 or greater) improve prostate-specific antigen (PSA) screening outcomes relative to existing biomarker tests? Findings: In this diagnostic study including 761 men in the development cohort and 743 men in the validation cohort, novel cancer-specific and high-grade cancer-specific genes were identified from RNA sequencing data and optimally modeled in a development cohort, yielding an 18-gene test for high-grade prostate cancer. Applying a testing approach with 95% sensitivity for high-grade prostate cancer to an external validation population, use of the 18-gene test would have reduced the number of unnecessary biopsies performed relative to current guideline-endorsed tests. Meaning: The new 18-gene prostate cancer test may reduce more burdensome additional testing (eg, imaging and biopsy) while maintaining highly sensitive detection of high-grade cancer in patients undergoing PSA screening. "

Postpartum Breast Cancer and Survival in Women With Germline BRCA Pathogenic Variants
(Posted Apr 21, 2024 8AM)

From the article: "Is postpartum diagnosis an independent risk factor associated with mortality among patients with young-onset breast cancer with germline BRCA1/2 pathogenic variants (PVs)? Findings: This cohort study including 903 women with BRCA germline PVs found that a breast cancer diagnosis less than 10 years post partum was associated with higher risk of mortality compared with nulliparous women and women diagnosed at least 10 years post partum. Increased risk after childbirth varied, with highest risk at less than 5 years for women with ER-positive breast cancer vs 5 to less than 10 years for women with ER-negative breast cancer, and BRCA1 carriers had peak risk of mortality 5 to less than 10 years post partum, with no associations observed for BRCA2 carriers. Meaning: These findings suggest that a breast cancer diagnosis within 10 years of childbirth was independently associated with increased risk for mortality in patients with germline BRCA1/2 PVs, especially for carriers of BRCA1 PVs."

Clinical Application of Different Liquid Biopsy Components in Hepatocellular Carcinoma
J Xu et al, JPM, April 15, 2024 (Posted Apr 15, 2024 2PM)

From the abstract: "Hepatocellular carcinoma (HCC) is the most common form of primary liver cancer, usually occurring in the background of chronic liver disease. HCC lethality rate is in the third highest place in the world. Patients with HCC have concealed early symptoms and possess a high-level of heterogeneity. Once diagnosed, most of the tumors are in advanced stages and have a poor prognosis. The sensitivity and specificity of existing detection modalities and protocols are suboptimal. HCC calls for more sophisticated and individualized therapeutic regimens. Liquid biopsy is non-invasive, repeatable, unaffected by location, and can be monitored dynamically. It has emerged as a useable aid in achieving precision malignant tumor treatment."

Nucleic acid-based drugs for patients with solid tumours.
Sebastian G Huayamares et al. Nat Rev Clin Oncol 2024 4 (Posted Apr 10, 2024 8AM)

From the abstract: "The treatment of patients with advanced-stage solid tumours typically involves a multimodality approach (including surgery, chemotherapy, radiotherapy, targeted therapy and/or immunotherapy), which is often ultimately ineffective. Nucleic acid-based drugs, either as monotherapies or in combination with standard-of-care therapies, are rapidly emerging as novel treatments capable of generating responses in otherwise refractory tumours. These therapies include those using viral vectors (also referred to as gene therapies), several of which have now been approved by regulatory agencies, and nanoparticles containing mRNAs and a range of other nucleotides. "


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A Study on the Retrospective Reinterpretation of BRCA1 and BRCA2 Variants. External Web Site Icon
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Assessing the value of incorporating a polygenic risk score with non-genetic factors for predicting breast cancer diagnosis in the UK Biobank. External Web Site Icon
Jennifer A Collister et al. Cancer Epidemiol Biomarkers Prev 2024
Correlation between NGS panel-based mutation results and clinical information in colorectal cancer patients. External Web Site Icon
Bo Cheng et al. Heliyon 2024 10(7) e29299
Cost-effectiveness of BRCA1 testing at time of obstetrical prenatal carrier screening for cancer prevention. External Web Site Icon
Shayan M Dioun et al. Am J Obstet Gynecol 2024
Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline. External Web Site Icon
Isabelle Bedrosian et al. J Clin Oncol 2024 42(5) 584-604
Medicolegal and insurance issues regarding BRCA1 and BRCA2 gene tests in high income countries. External Web Site Icon
Riccardo Oliva et al. Int J Gynecol Cancer 2024
Postpartum Breast Cancer and Survival in Women With Germline BRCA Pathogenic Variants. External Web Site Icon
Zhenzhen Zhang et al. JAMA Netw Open 2024 7(4) e247421
Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer. External Web Site Icon
Sara Torres-Esquius et al. JAMA Netw Open 2024 7(4) e247811
Uptake of Risk-Reducing Measures, Cascade Testing, and Related Challenges Among Carriers of Breast Cancer-Associated Germline Pathogenic Variants in Mexico. External Web Site Icon
Fernanda Mesa-Chavez et al. JCO Glob Oncol 2024 10e2300417
A Machine Learning Algorithm Facilitates Prognosis Prediction and Treatment Selection for Barcelona Clinic Liver Cancer Stage C Hepatocellular Carcinoma. External Web Site Icon
Ji Won Han et al. Clin Cancer Res 2024
Application of machine learning for lung cancer survival prognostication-A systematic review and meta-analysis. External Web Site Icon
Alexander J Didier et al. Front Artif Intell 2024 71365777
Application value of the automated machine learning model based on modified CT index combined with serological indices in the early prediction of lung cancer. External Web Site Icon
Leyuan Meng et al. Front Public Health 2024 121368217
Artificial Intelligence for breast cancer detection: Technology, challenges, and prospects. External Web Site Icon
Oliver Díaz et al. Eur J Radiol 2024 175111457
Comparing preferences for skin cancer screening: AI-enabled app vs dermatologist. External Web Site Icon
Susanne Gaube et al. Soc Sci Med 2024 349116871
Predicting non-muscle invasive bladder cancer outcomes using artificial intelligence: a systematic review using APPRAISE-AI. External Web Site Icon
Jethro C C Kwong et al. NPJ Digit Med 2024 7(1) 98
Predicting the risk of lung cancer using machine learning: A large study based on UK Biobank. External Web Site Icon
Siqi Zhang et al. Medicine (Baltimore) 2024 103(16) e37879
Prediction of tumor origin in cancers of unknown primary origin with cytology-based deep learning. External Web Site Icon
Fei Tian et al. Nat Med 2024
What toilets can reveal about COVID, cancer and other health threats External Web Site Icon
Ladyzhets B. Nature, Apr 17, 2024.
A qualitative feasibility study of a prototype patient-centered video intervention to increase uptake of cancer genetic testing among Black Americans. External Web Site Icon
Katherine Clegg Smith et al. Pilot Feasibility Stud 2024 10(1) 62
Clinical features of prostate cancer by polygenic risk score. External Web Site Icon
Christina Spears et al. Fam Cancer 2024
Impact of Family History and Germline Genetic Risk Single Nucleotide Polymorphisms on Long-Term Outcomes of Favorable-Risk Prostate Cancer. External Web Site Icon
Florian Rumpf et al. J Urol 2024 101097JU0000000000003927
Somatic Tumor Testing in Prostate Cancer: Experience of a Tertiary-Care Center Including Pathologist-Driven Reflex Testing of Localized Tumors at Diagnosis. External Web Site Icon
Susan Prendeville et al. Mod Pathol 2024 100489
The Evolution of Genetic Testing from Focused Testing to Panel Testing and from Patient Focused to Population Testing: Are We There Yet? External Web Site Icon
Lauren Gima et al. Clin Colon Rectal Surg 2024 37(3) 133-139
Uptake of screening and risk-reducing recommendations among women with hereditary breast and ovarian cancer syndrome due to pathogenic BRCA1/2 variants evaluated at a large urban comprehensive cancer center. External Web Site Icon
Hadeel Assad et al. Breast Cancer Res Treat 2024
Utilization and Outcomes of Multigene Panel Testing in Patients With Pancreatic Ductal Adenocarcinoma. External Web Site Icon
Derk C F Klatte et al. JCO Oncol Pract 2024 OP2300447
A Semiautonomous Deep Learning System to Reduce False-Positive Findings in Screening Mammography. External Web Site Icon
Stefano Pedemonte et al. Radiol Artif Intell 2024 e230033
Artificial Intelligence in Oncology: Current Landscape, Challenges, and Future Directions. External Web Site Icon
William Lotter et al. Cancer Discov 2024 OF1-OF16
Conventional and machine-learning based risk score for patients with early-stage hepatocellular carcinoma. External Web Site Icon
Chun-Ting Ho et al. Clin Mol Hepatol 2024
Explainable and visualizable machine learning models to predict biochemical recurrence of prostate cancer. External Web Site Icon
Wenhao Lu et al. Clin Transl Oncol 2024
Machine Learning as a Diagnostic and Prognostic Tool for Predicting Thrombosis in Cancer Patients: A Systematic Review. External Web Site Icon
Adham H El-Sherbini et al. Semin Thromb Hemost 2024

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Cancer PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other materials that address the translation of genomic and other precision health discoveries into improved health care and prevention related to cancer...more

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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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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