Screening and prevention of ovarian cancer

M Sideris, U Menon… - Medical Journal of …, 2024 - Wiley Online Library
Ovarian cancer remains the most lethal gynaecological malignancy with 314 000 cases and
207 000 deaths annually worldwide. Ovarian cancer cases and deaths are predicted to …

The promise and challenges of genomics‐informed periodontal disease diagnoses

L Nibali, K Divaris, EMC Lu - Periodontology 2000, 2024 - Wiley Online Library
Recent advances in human genomics and the advent of molecular medicine have
catapulted our ability to characterize human and health and disease. Scientists and …

Population genetic screening efficiently identifies carriers of autosomal dominant diseases

JJ Grzymski, G Elhanan, JA Morales Rosado, E Smith… - Nature medicine, 2020 - nature.com
Three inherited autosomal dominant conditions—BRCA-related hereditary breast and
ovarian cancer (HBOC), Lynch syndrome (LS) and familial hypercholesterolemia (FH) …

Population genomic screening for three common hereditary conditions: a cost-effectiveness analysis

GF Guzauskas, S Garbett, Z Zhou… - Annals of internal …, 2023 - acpjournals.org
Background: The cost-effectiveness of screening the US population for Centers for Disease
Control and Prevention (CDC) Tier 1 genomic conditions is unknown. Objective: To estimate …

The future of IVF: the new normal in human reproduction

VA Kushnir, GD Smith, EY Adashi - Reproductive Sciences, 2022 - Springer
Increased demand for in vitro fertilization (IVF) due to socio-demographic trends, and supply
facilitated by new technologies, converged to transform the way a substantial proportion of …

[HTML][HTML] Clinical outcomes of a genomic screening program for actionable genetic conditions

AH Buchanan, HL Kirchner, MLB Schwartz, MA Kelly… - Genetics in …, 2020 - Elsevier
Purpose Three genetic conditions—hereditary breast and ovarian cancer syndrome, Lynch
syndrome, and familial hypercholesterolemia—have tier 1 evidence for interventions that …

Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization

CLB Zawatsky, N Shah, K Machini, E Perez… - The American Journal of …, 2021 - cell.com
Over 100 million research participants around the world have had research array-based
genoty** (GT) or genome sequencing (GS), but only a small fraction of these have been …

Association of rare pathogenic DNA variants for familial hypercholesterolemia, hereditary breast and ovarian cancer syndrome, and lynch syndrome with disease risk …

AP Patel, M Wang, AC Fahed… - JAMA network …, 2020 - jamanetwork.com
Importance Pathogenic DNA variants associated with familial hypercholesterolemia,
hereditary breast and ovarian cancer syndrome, and Lynch syndrome are widely recognized …

Cost-effectiveness of population-wide genomic screening for hereditary breast and ovarian cancer in the United States

GF Guzauskas, S Garbett, Z Zhou, SJ Spencer… - JAMA network …, 2020 - jamanetwork.com
Importance Genomic screening for hereditary breast and ovarian cancer (HBOC) in
unselected women offers an opportunity to prevent cancer morbidity and mortality, but the …

Identification of neuropsychiatric copy number variants in a health care system population

CL Martin, KE Wain, MT Oetjens, K Tolwinski… - JAMA …, 2020 - jamanetwork.com
Importance Population screening for medically relevant genomic variants that cause
diseases such as hereditary cancer and cardiovascular disorders is increasing to facilitate …