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Cancer PHGKB

Specific PHGKB|Cancer|PHGKB
Last Posted: Jun 02, 2023
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Summary for Patients: Population Genomic Screening for Three Common Hereditary Conditions.
et al. Ann Intern Med 2023 5 (5) I19

Patients who have certain genetic test results are at higher risk for diseases that may be preventable. There is ongoing debate about whether physicians should screen for 3 hereditary conditions: Lynch syndrome (at greater risk for colon cancer), hereditary breast and ovarian cancer, and familial hypercholesterolemia (at greater risk for early heart disease and stroke). This modeling study found that screening for these 3 hereditary conditions is likely cost-effective in U.S. adults younger than 40 years if the testing cost is relatively inexpensive and people have access to preventive care.

Estimating clinical risk in gene regions from population sequencing cohort data.
James D Fife et al. Am J Hum Genet 2023 5

While pathogenic variants can significantly increase disease risk, it is still challenging to estimate the clinical impact of rare missense variants more generally. Even in genes such as BRCA2 or PALB2, large cohort studies find no significant association between breast cancer and rare missense variants collectively. Here, we introduce REGatta, a method to estimate clinical risk from variants in smaller segments of individual genes.

Genetically adjusted PSA levels for prostate cancer screening.
Linda Kachuri et al. Nat Med 2023 6

In this study, we discovered 128 genome-wide significant associations (P?<?5?×?10-8) in a multi-ancestry meta-analysis of 95,768 men and developed a PSA polygenic score (PGSPSA) that explains 9.61% of constitutive PSA variation. Genetically adjusted PSA was more predictive of aggressive prostate cancer (odds ratio (OR)?=?3.44, P?=?6.2?×?10-14, area under the curve (AUC)?=?0.755) than unadjusted PSA (OR?=?3.31, P?=?1.1?×?10-12, AUC?=?0.738) in 106 cases and 23,667 controls. Compared to a prostate cancer PGS alone (AUC?=?0.712), including genetically adjusted PSA improved detection of aggressive disease (AUC?=?0.786, P?=?7.2?×?10-4). Our findings highlight the potential utility of incorporating PGS for personalized biomarkers in prostate cancer screening.

Prediction of breast cancer risk for sisters of women attending screening.
Xinhe Mao et al. J Natl Cancer Inst 2023 5

We included 53,051 women from the KARMA study. Established risk factors were derived using self-reported questionnaires, mammograms, and SNP genotyping. Using the Swedish Multi-Generation Register, we identified 32,198 sisters of the KARMA women. We found that a higher breast cancer polygenic risk score, a history of benign breast disease, and higher breast density in women were associated with an increased risk of breast cancer for both women and their sisters.


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Sarah A Morris et al. Am J Health Syst Pharm 2023
Barriers to Genetic Testing in Vascular Malformations. External Web Site Icon
Alexandra J Borst et al. JAMA Netw Open 2023 6(5) e2314829
Cancer Screening Experiences of Black Breast and Ovarian Cancer Patients and Family Members. External Web Site Icon
Abigail Rousseau et al. J Community Health 2023 1-7
Circulating microRNAs for Early Diagnosis of Ovarian Cancer: A Systematic Review and Meta-Analysis. External Web Site Icon
Nanna Lond Skov Frisk et al. Biomolecules 2023 13(5)
Cost-Effectiveness Analysis of MammaPrint to Guide the Use of Endocrine Therapy in Patients with Early-Stage Breast Cancer. External Web Site Icon
Marianne Luyendijk et al. Pharmacoeconomics 2023
Designing a Dyad-Based Digital Health Intervention to Reduce Sedentary Time in Black Breast Cancer Survivors and Their First-degree Relatives: Human-Centered Design Study. External Web Site Icon
Meghan Blazey et al. JMIR Form Res 2023 7e43592
Factors predicting BRCA1/2 pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis. External Web Site Icon
Giovanni Innella et al. J Clin Pathol 2023
Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool. External Web Site Icon
Mattia Garutti et al. Genes (Basel) 2023 14(5)
On-Site Nurse-Led Cancer Genetics Program Increases Cancer Genetic Testing Completion in Black Veterans. External Web Site Icon
Jeffrey W Shevach et al. JCO Oncol Pract 2023 OP2200738
Privacy and utility of genetic testing in families with hereditary cancer syndromes living in three countries: the international cascade genetic screening experience. External Web Site Icon
Sivia Barnoy et al. Front Genet 2023 141109431

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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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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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