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TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.
Genome Med
January 2025
Hereditary Cancer Group, Oncobell Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Av. Gran Via 199-203, L'Hospitalet del Llobregat, 08908, Spain.
Background: Germline heterozygous pathogenic variants (PVs) in TP53 cause Li-Fraumeni syndrome (LFS), a condition associated with increased risk of multiple tumor types. As the associated cancer risks were refined over time, clinical criteria also evolved to optimize diagnostic yield. The implementation of multi-gene panel germline testing in different clinical settings has led to the identification of TP53 PV carriers outside the classic LFS-associated cancer phenotypes, leading to a broader cancer phenotypic redefinition and to the renaming of the condition as "heritable TP53-related cancer syndrome" (hTP53rc).
View Article and Find Full Text PDFThe use of the Prospector calculator reduces antibiotic therapy in exacerbations of chronic obstructive pulmonary disease.
Sci Rep
January 2025
Division of Pulmonology, Faculty of Medicine, Medical University of Gdańsk, Smoluchowskiego 17, 80-214, Gdańsk, Poland.
Chronic obstructive pulmonary disease (COPD) exacerbations frequently cause patient consultations in both out- and inpatient settings. Recent data suggest that only 40-60% of exacerbations are of bacterial origin and mandate antibiotic treatment. However, a reliable tool to justify prescribing antibiotics for COPD exacerbation is still lacking.
View Article and Find Full Text PDFCancer Incidence in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) - The Onco-SOL Ancillary Study.
Cancer Epidemiol Biomarkers Prev
January 2025
San Diego State University, San Diego, California, United States.
Background: Few studies have examined how cancer incidence varies by country of origin among United States Hispanic/Latino adults. Herein, we describe the incidence rates of cancer overall and for screen-detectable, tobacco-related, and obesity-related cancers among 16,415 participants in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL), an ongoing population-based cohort study of Hispanic/Latino adults from diverse backgrounds.
Methods: Cohort participant records were linked to the state cancer registries in New York, Florida, California, and Illinois to ascertain cancer incidence from baseline (2008-2011) through 2021.
Is Any ABCDE Stress Echocardiography Score Equivalent to Stress-Induced Ischaemia? Reply With a Modified 2-Stage Approach.
Korean Circ J
January 2025
Imaging Department, Harefield Hospital, Royal Brompton and Harefield Hospitals, Harefield, United Kingdom.
Stress echocardiography has evolved from the sole assessment of regional wall motion abnormalities (RWMAs) to the ABCDE protocol, as recommended by the recent clinical consensus statement from the European Association of Cardiovascular Imaging, reflecting the need for a more systematic patient assessment. Steps A, B, C, D, and E assess RWMAs, lung B-lines, left ventricular contractile reserve, coronary flow velocity reserve (CFVR) in mid-distal left anterior descending artery, and heart rate reserve, respectively. Impairment of CFVR is considered as the earliest abnormality in the ischaemic cascade.
View Article and Find Full Text PDFThe emerging landscape and future perspective of SCLC transformation: from molecular mechanisms to therapeutic strategies.
Crit Rev Oncol Hematol
January 2025
Department of Internal Medicine-Oncology, Shandong Cancer Hospital and Institute, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, China. Electronic address:
Small-cell lung cancer (SCLC) is featured by high malignancy and undesirable prognosis. Transformed SCLC shares several common grounds but differ in biological behavior, molecular mechanism and therapeutic options from typical SCLC. SCLC transformation exerts indispensable role in drug resistance among patients with non-small cell lung cancer (NSCLC) upon various treatment modalities.
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