Last Posted: Apr 23, 2024
Spotlight
Latest
News and Publications
What toilets can reveal about COVID, cancer and other health threats
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.
Katherine Clegg Smith et al. Pilot Feasibility Stud 2024 10(1) 62
Clinical features of prostate cancer by polygenic risk score.
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.
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.
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?
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.
Hadeel Assad et al. Breast Cancer Res Treat 2024
Utilization and Outcomes of Multigene Panel Testing in Patients With Pancreatic Ductal Adenocarcinoma.
Derk C F Klatte et al. JCO Oncol Pract 2024 OP2300447
A Semiautonomous Deep Learning System to Reduce False-Positive Findings in Screening Mammography.
Stefano Pedemonte et al. Radiol Artif Intell 2024 e230033
Artificial Intelligence in Oncology: Current Landscape, Challenges, and Future Directions.
William Lotter et al. Cancer Discov 2024 OF1-OF16
Conventional and machine-learning based risk score for patients with early-stage hepatocellular carcinoma.
Chun-Ting Ho et al. Clin Mol Hepatol 2024
Explainable and visualizable machine learning models to predict biochemical recurrence of prostate cancer.
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.
Adham H El-Sherbini et al. Semin Thromb Hemost 2024
The potential of machine learning models to identify malnutrition diagnosed by GLIM combined with NRS-2002 in colorectal cancer patients without weight loss information.
Tiantian Wu et al. Clin Nutr 2024 43(5) 1151-1161
Using artificial intelligence-based technologies to support the diagnosis and early detection of melanoma in primary care.
Owain T Jones et al. Br J Dermatol 2024
Computational identification and experimental verification of a novel signature based on SARS-CoV-2-related genes for predicting prognosis, immune microenvironment and therapeutic strategies in lung adenocarcinoma patients.
Wang Yuzhi, et al. Frontiers in immunology 2024 0 0. 1366928
BRCA awareness and testing experience in the UK Jewish population: a qualitative study.
Katrina Sarig et al. J Med Genet 2024
Factors Influencing Adherence to the Risk Management Program for Women With a Genetic Predisposition to Breast Cancer: Real-World Data from a French Multicenter Program.
Ke Zhou et al. Oncologist 2024
Hereditary Cancer Syndrome Carriers: Feeling Left in the Corner.
Celia Diez de Los Rios de la Serna et al. Semin Oncol Nurs 2024 151624
Non-invasive prenatal test identifies circulating cell-free DNA chromosomal abnormalities derived from clonal hematopoiesis in aggressive hematological malignancies.
Valentina Giudice et al. Clin Exp Med 2024 24(1) 69
Olaparib not cost-effective as maintenance therapy for platinum-sensitive, BRCA1/2 germline-mutated metastatic pancreatic cancer.
Tarun Mehra et al. PLoS One 2024 19(4) e0301271
Oncologists' perceptions of tumor genomic profiling and barriers to communicating secondary hereditary risks to African American cancer patients.
Michael J Hall et al. BMC Cancer 2024 24(1) 412
Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.
Zhiyuan Wu et al. BMC Cancer 2024 24(1) 411
Application of deep learning on mammographies to discriminate between low and high-risk DCIS for patient participation in active surveillance trials.
Sena Alaeikhanehshir et al. Cancer Imaging 2024 24(1) 48
Artificial intelligence and skin cancer.
Maria L Wei et al. Front Med (Lausanne) 2024 111331895
Evaluation of the neoadjuvant chemotherapy response in osteosarcoma using the MRI DWI-based machine learning radiomics nomogram.
Lu Zhang et al. Front Oncol 2024 141345576
Is Risk-Stratifying Patients with Colorectal Cancer Using a Deep Learning-Based Prognostic Biomarker Cost-Effective?
Anna Kenseth et al. Pharmacoeconomics 2024
Machine learning-based predictive models for patients with venous thromboembolism: A Systematic Review.
Vasiliki Danilatou et al. Thromb Haemost 2024
Immunoglobulin G4-related disease and B-cell malignancy due to an IKZF1 gain-of-function variant.
García-Solís Blanca, et al. The Journal of allergy and clinical immunology 2024 0 0.
A scoping review of web-based, interactive, personalized decision-making tools available to support breast cancer treatment and survivorship care.
Kaitlyn M Wojcik et al. J Cancer Surviv 2024
Clinician perspectives on policy approaches to genetic risk disclosure in families.
Amicia Phillips et al. Fam Cancer 2024
Effectiveness and Cost-Effectiveness of Colorectal Cancer Screening With a Blood Test That Meets the Centers for Medicare & Medicaid Services Coverage Decision.
Rosita van den Puttelaar et al. Gastroenterology 2024
IMPACT OF ENDOSCOPIC TREATMENT IN SEVERE DUODENAL POLYPOSIS: A NATIONAL STUDY IN FAMILIAL ADENOMATOUS POLYPOSIS PATIENTS.
Pierrine Le Bras et al. Clin Gastroenterol Hepatol 2024
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Jessica Gold et al. medRxiv 2024
Early detection of nasopharyngeal carcinoma through machine-learning-driven prediction model in a population-based healthcare record database.
Jeng-Wen Chen et al. Cancer Med 2024 13(7) e7144
Machine Learning-Based Algorithms for Enhanced Prediction of Local Recurrence and Metastasis in Low Rectal Adenocarcinoma Using Imaging, Surgical, and Pathological Data.
Cristian-Constantin Volovat et al. Diagnostics (Basel) 2024 14(6)
Machine Learning-Based Prediction of Hospitalization During Chemoradiotherapy With Daily Step Counts.
Isabel D Friesner et al. JAMA Oncol 2024
Men's sociotechnical imaginaries of artificial intelligence for prostate cancer diagnostics - A focus group study.
Emilie Hybertsen Lysø et al. Soc Sci Med 2024 347116771
Prediction and Diagnosis of Breast Cancer Using Machine and Modern Deep Learning Models.
Seeta Devi et al. Asian Pac J Cancer Prev 2024 25(3) 1077-1085
Codesign of Lynch Choices : Using implementation science to create a clinically deliverable patient decision support website to transform cancer genetics care pathways.
Kelly Kohut et al. Psychooncology 2024 33(3) e6330
Spotlight
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. "
Latest
News and Publications
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.
Katherine Clegg Smith et al. Pilot Feasibility Stud 2024 10(1) 62
Clinical features of prostate cancer by polygenic risk score.
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.
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.
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?
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.
Hadeel Assad et al. Breast Cancer Res Treat 2024
Utilization and Outcomes of Multigene Panel Testing in Patients With Pancreatic Ductal Adenocarcinoma.
Derk C F Klatte et al. JCO Oncol Pract 2024 OP2300447
A Semiautonomous Deep Learning System to Reduce False-Positive Findings in Screening Mammography.
Stefano Pedemonte et al. Radiol Artif Intell 2024 e230033
Artificial Intelligence in Oncology: Current Landscape, Challenges, and Future Directions.
William Lotter et al. Cancer Discov 2024 OF1-OF16
Conventional and machine-learning based risk score for patients with early-stage hepatocellular carcinoma.
Chun-Ting Ho et al. Clin Mol Hepatol 2024
Explainable and visualizable machine learning models to predict biochemical recurrence of prostate cancer.
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.
Adham H El-Sherbini et al. Semin Thromb Hemost 2024
The potential of machine learning models to identify malnutrition diagnosed by GLIM combined with NRS-2002 in colorectal cancer patients without weight loss information.
Tiantian Wu et al. Clin Nutr 2024 43(5) 1151-1161
Using artificial intelligence-based technologies to support the diagnosis and early detection of melanoma in primary care.
Owain T Jones et al. Br J Dermatol 2024
Computational identification and experimental verification of a novel signature based on SARS-CoV-2-related genes for predicting prognosis, immune microenvironment and therapeutic strategies in lung adenocarcinoma patients.
Wang Yuzhi, et al. Frontiers in immunology 2024 0 0. 1366928
BRCA awareness and testing experience in the UK Jewish population: a qualitative study.
Katrina Sarig et al. J Med Genet 2024
Factors Influencing Adherence to the Risk Management Program for Women With a Genetic Predisposition to Breast Cancer: Real-World Data from a French Multicenter Program.
Ke Zhou et al. Oncologist 2024
Hereditary Cancer Syndrome Carriers: Feeling Left in the Corner.
Celia Diez de Los Rios de la Serna et al. Semin Oncol Nurs 2024 151624
Non-invasive prenatal test identifies circulating cell-free DNA chromosomal abnormalities derived from clonal hematopoiesis in aggressive hematological malignancies.
Valentina Giudice et al. Clin Exp Med 2024 24(1) 69
Olaparib not cost-effective as maintenance therapy for platinum-sensitive, BRCA1/2 germline-mutated metastatic pancreatic cancer.
Tarun Mehra et al. PLoS One 2024 19(4) e0301271
Oncologists' perceptions of tumor genomic profiling and barriers to communicating secondary hereditary risks to African American cancer patients.
Michael J Hall et al. BMC Cancer 2024 24(1) 412
Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.
Zhiyuan Wu et al. BMC Cancer 2024 24(1) 411
Application of deep learning on mammographies to discriminate between low and high-risk DCIS for patient participation in active surveillance trials.
Sena Alaeikhanehshir et al. Cancer Imaging 2024 24(1) 48
Artificial intelligence and skin cancer.
Maria L Wei et al. Front Med (Lausanne) 2024 111331895
Evaluation of the neoadjuvant chemotherapy response in osteosarcoma using the MRI DWI-based machine learning radiomics nomogram.
Lu Zhang et al. Front Oncol 2024 141345576
Is Risk-Stratifying Patients with Colorectal Cancer Using a Deep Learning-Based Prognostic Biomarker Cost-Effective?
Anna Kenseth et al. Pharmacoeconomics 2024
Machine learning-based predictive models for patients with venous thromboembolism: A Systematic Review.
Vasiliki Danilatou et al. Thromb Haemost 2024
Immunoglobulin G4-related disease and B-cell malignancy due to an IKZF1 gain-of-function variant.
García-Solís Blanca, et al. The Journal of allergy and clinical immunology 2024 0 0.
A scoping review of web-based, interactive, personalized decision-making tools available to support breast cancer treatment and survivorship care.
Kaitlyn M Wojcik et al. J Cancer Surviv 2024
Clinician perspectives on policy approaches to genetic risk disclosure in families.
Amicia Phillips et al. Fam Cancer 2024
Effectiveness and Cost-Effectiveness of Colorectal Cancer Screening With a Blood Test That Meets the Centers for Medicare & Medicaid Services Coverage Decision.
Rosita van den Puttelaar et al. Gastroenterology 2024
IMPACT OF ENDOSCOPIC TREATMENT IN SEVERE DUODENAL POLYPOSIS: A NATIONAL STUDY IN FAMILIAL ADENOMATOUS POLYPOSIS PATIENTS.
Pierrine Le Bras et al. Clin Gastroenterol Hepatol 2024
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Jessica Gold et al. medRxiv 2024
Early detection of nasopharyngeal carcinoma through machine-learning-driven prediction model in a population-based healthcare record database.
Jeng-Wen Chen et al. Cancer Med 2024 13(7) e7144
Machine Learning-Based Algorithms for Enhanced Prediction of Local Recurrence and Metastasis in Low Rectal Adenocarcinoma Using Imaging, Surgical, and Pathological Data.
Cristian-Constantin Volovat et al. Diagnostics (Basel) 2024 14(6)
Machine Learning-Based Prediction of Hospitalization During Chemoradiotherapy With Daily Step Counts.
Isabel D Friesner et al. JAMA Oncol 2024
Men's sociotechnical imaginaries of artificial intelligence for prostate cancer diagnostics - A focus group study.
Emilie Hybertsen Lysø et al. Soc Sci Med 2024 347116771
Prediction and Diagnosis of Breast Cancer Using Machine and Modern Deep Learning Models.
Seeta Devi et al. Asian Pac J Cancer Prev 2024 25(3) 1077-1085
Codesign of Lynch Choices : Using implementation science to create a clinically deliverable patient decision support website to transform cancer genetics care pathways.
Kelly Kohut et al. Psychooncology 2024 33(3) e6330
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About Cancer PHGKB
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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- CDC Information (133)
- NIH Information (399)
- COVID-19 (1112)
- CDC Genomics and Precision Health Publications (316)
- Human Genome Epidemiologic Studies (60514)
- GWAS Studies (912)
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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.
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 21, 2024
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