Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content
Cancer PHGKB

Specific PHGKB|Cancer|PHGKB
Last Posted: May 13, 2021
spot light Spotlight

Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
M Tishkowitz et al, Genetics in Medicine, May 11, 2021

PALB2 heterozygotes should be offered BRCA1/2-equivalent breast surveillance. Risk-reducing mastectomy can be considered guided by personalized risk estimates. Pancreatic cancer surveillance should be considered, but ideally as part of a clinical trial. Typically, ovarian cancer surveillance is not recommended, and risk-reducing salpingo-oophorectomy should only rarely be considered before the age of 50. Given the mechanistic similarities, PALB2 heterozygotes should be considered for therapeutic regimens and trials as those for BRCA1/2.

Evaluation of BRCA1 and BRCA2 as Indicators of Response to Immune Checkpoint Inhibitors
Z Zhou et al, JAMA Network Open, May 7, 2021

The findings of this cohort study suggest that BRCA2 alteration in combination with TMB was a potential biomarker associated with response to ICIs. BRCA1/2 altered tumors have shown enhanced immunosurveillance in several preclinical studies, but their correlation with ICI treatment outcomes remains uncharacterized

Risk of colorectal cancer in first degree relatives of patients with colorectal polyps: nationwide case-control study in Sweden
M Song et al, BMJ May 2021

After adjusting for family history of CRC, the siblings and children of patients with colorectal polyps are still at higher risk of CRC, particularly early onset CRC. Early screening for CRC might be considered for first degree relatives of patients with polyps.

AI to expand the reach of oncology trials- Data-driven clinical trial simulation could help to optimize inclusion criteria
Nature Medicine, April 29, 2021

Defining eligibility criteria for oncology trials involves a balance, weighing the necessity for patient safety against the desire for generalizable results relevant to real-world patients. However, certain trial exclusion criteria may be unnecessarily restrictive. Artificial intelligence allows for prediction of clinical outcomes-based hypothetical scenarios.


news Latest News and Publications
Clinical use of the SelectMDx urinary-biomarker test with or without mpMRI in prostate cancer diagnosis: a prospective, multicenter study in biopsy-naïve men. External Web Site Icon
Hendriks Rianne J et al. Prostate cancer and prostatic diseases 2021
Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors. External Web Site Icon
Martínez-Fernández Paula et al. Journal of personalized medicine 2021 11(5)
Cost-effectiveness analysis of alternative colorectal cancer screening strategies in high-risk individuals. External Web Site Icon
Benamouzig Robert et al. Therapeutic advances in gastroenterology 2021 1417562848211002359
Disease Spectrum of Breast Cancer Susceptibility Genes. External Web Site Icon
Wang Jin et al. Frontiers in oncology 2021 11663419
Effect of a health literacy training program for surgical oncologists and specialized nurses on disparities in referral to breast cancer genetic testing. External Web Site Icon
van der Giessen Jeanine A M et al. Breast (Edinburgh, Scotland) 2021 5880-87
Effects of Screenings in Reducing Colorectal Cancer Incidence and Mortality Differ by Polygenic Risk Scores. External Web Site Icon
Choi Jungyoon et al. Clinical and translational gastroenterology 2021 12(5) e00344
Multigene tests for breast cancer: the physician's perspective. External Web Site Icon
Cognetti Francesco et al. Oncotarget 2021 12(9) 936-947
Mutational landscape of chronic myeloid leukemia: more than a single oncogene leukemia. External Web Site Icon
Adnan-Awad Shady et al. Leukemia & lymphoma 2021 1-15
Oncogenetic landscape and clinical impact of IDH1 and IDH2 mutations in T-ALL. External Web Site Icon
Simonin Mathieu et al. Journal of hematology & oncology 2021 14(1) 74
Real-world utility of next-generation sequencing for targeted gene analysis and its application to treatment in lung adenocarcinoma. External Web Site Icon
Kim Jwa Hoon et al. Cancer medicine 2021
Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance. External Web Site Icon
Durno Carol et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2021 JCO2002636
Use of a Standardized Tool to Identify Women at Risk for Hereditary Breast and Ovarian Cancer. External Web Site Icon
Hessock Melissa et al. Nursing for women's health 2021
Utilization and uptake of clinical genetics services in high-income countries: A scoping review. External Web Site Icon
Dragojlovic Nick et al. Health policy (Amsterdam, Netherlands) 2021
Whole genome sequencing in oncology: using scenario drafting to explore future developments. External Web Site Icon
van de Ven Michiel et al. BMC cancer 2021 21(1) 488
A combined microfluidic deep learning approach for lung cancer cell high throughput screening toward automatic cancer screening applications. External Web Site Icon
Hashemzadeh Hadi et al. Scientific reports 2021 11(1) 9804
Artificial intelligence in oncology: Path to implementation. External Web Site Icon
Chua Isaac S et al. Cancer medicine 2021
Deep learning for fully-automated prediction of overall survival in patients with oropharyngeal cancer using FDG PET imaging: an international retrospective study. External Web Site Icon
Cheng Nai-Ming et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2021
AI-based Strategies to Reduce Workload in Breast Cancer Screening with Mammography and Tomosynthesis: A Retrospective Evaluation. External Web Site Icon
Raya-Povedano José Luis et al. Radiology 2021 203555
Deep Radiogenomics of Lower-Grade Gliomas: Convolutional Neural Networks Predict Tumor Genomic Subtypes Using MR Images. External Web Site Icon
Buda Mateusz et al. Radiology. Artificial intelligence 2020 2(1) e180050
Improving DCIS diagnosis and predictive outcome by applying artificial intelligence. External Web Site Icon
Hayward Mary-Kate et al. Biochimica et biophysica acta. Reviews on cancer 2021 1876(1) 188555

More


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.

TOP