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Rare Disease PHGKB

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Last Posted: Jun 06, 2023
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Germline Genetic Testing After Cancer Diagnosis.
Allison W Kurian et al. JAMA 2023 6

Among patients in the Surveillance, Epidemiology, and End Results registries diagnosed with cancer between 2013 and 2019, what was the prevalence of germline genetic testing? In this observational study that included 1?369?602 patients diagnosed with cancer in California and Georgia, germline genetic testing after cancer diagnosis was low (6.8%; n?=?93?052). Testing was highest in males with breast cancer (50%) and in patients with ovarian cancer (38.6%). Compared with non-Hispanic White patients, rates of testing were lower among Asian, Black, and Hispanic patients.

The next step toward personalized recommendations for genetic cardiomyopathies
SLVM Stroeks et al, EJHG, June 6, 2023

The genetic basis of dilated cardiomyopathy (DCM) is very heterogeneous, with over 65 genes described in association with its development. The most prevalent genetic etiology are truncating variants in TTN (TTNtv), that comprise around 50% of all genetic cases. Truncating variants in FLNC (FLNCtv) are the latest discovery to the genetic landscape of DCM, and the gene is now included in every cardiomyopathy gene panel.

Newborn Screening for Fabry Disease: Current Status of Knowledge
V Gragnaiello et al, J Per Med, June 2023

Fabry disease is an X-linked progressive lysosomal disorder, due to a-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease. Patients presenting with the later onset subtypes have cardiac, renal and neurological involvements in adulthood. Unfortunately, the diagnosis is often delayed until the organ damage is already irreversibly severe, making specific treatments less efficacious. For this reason, in the last two decades, newborn screening has been implemented to allow early diagnosis and treatment.

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.


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Assessment of Interleukin-13(rs20541) Genomic Polymorphism in Patients with Acute Respiratory Distress Syndrome in Relation to COVID19 Infection. External Web Site Icon
Modher Nabat Al-Ajrash A, et al. Archives of Razi Institute 2023 0 0. (6) 2291-2298
Epigenomic landscape exhibits interferon signaling suppression in the patient of myocarditis after BNT162b2 vaccination. External Web Site Icon
Kim Hyeonhui, et al. Scientific reports 2023 0 0. (1) 8926
Harnessing Machine Learning in Early COVID-19 Detection and Prognosis: A Comprehensive Systematic Review. External Web Site Icon
Dabbagh Rufaidah, et al. Cureus 2023 0 0. (5) e38373
Prolonged Disease Course of COVID-19 in a Patient with CTLA-4 Haploinsufficiency. External Web Site Icon
Hoffman T W, et al. Case reports in immunology 2023 0 0. 3977739
[Role of Complement in Kidney Diseases - New Aspects]. External Web Site Icon
Zipfel Peter F, et al. Deutsche medizinische Wochenschrift (1946) 2023 0 0. (12) 774-779
Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations. External Web Site Icon
Elena Martín-González et al. Pulmonology 2023
Analysis of genetic test results in 378 patients suspected of thalassaemia. External Web Site Icon
Jing Jin et al. Biotechnol Genet Eng Rev 2023 1-15
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)
Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies. External Web Site Icon
Luigia De Falco et al. Genes (Basel) 2023 14(5)

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About Rare Diseases PHGKB

Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...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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