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Bone sarcomas and cancer predisposition syndromes.
Bull Cancer
January 2025
Department of Paediatric Oncology, Institut d'Haematologie et d'Oncologie Pédiatrique, Centre Léon-Bérard, Lyon, France. Electronic address:
Bone sarcomas, constituting less than 1% of malignant neoplasms across all age groups, are rare tumours possibly associated with genetic susceptibility syndromes. This review aims to provide recommendations for the detection of cancer predisposition syndromes associated with bone sarcomas and managing affected patients. Recommendations were formulated by a multidisciplinary working and reviewing group from GROUPOS and SFCE oncogenetic's group, including geneticists, oncologists, and radiologists.
View Article and Find Full Text PDFAdaptation and validation of a tool for the quality assessment of genetic counseling in Brazil: perspectives from clinical geneticists.
J Community Genet
January 2025
Graduate Program in Structural and Functional Biology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
In 2018, Portuguese researchers proposed the "Tool for Quality Assessment of Genetic Counseling," a 5-point Likert scale comprising 50 items across five dimensions, designed to assess genetic counseling from the professional's perspective. This descriptive, cross-sectional study aimed to adapt this tool to Brazilian Portuguese, validate it among Brazilian clinical geneticists, and conduct a preliminary assessment of the quality of genetic counseling in Brazil. The adaptation process involved expert-driven content validation and calculation of the Content Validity Index (CVI) to ensure equivalence between the original and adapted versions.
View Article and Find Full Text PDFHaemoglobin revisited: delineating population structure with the world's first molecular genetic marker used in fisheries research.
R Soc Open Sci
January 2025
Institute of Marine Research (IMR), PO Box 1870, Bergen N-5817, Norway.
When haemoglobin genotyping was implemented in the early 1960s to investigate population genetic structure in Atlantic cod (), it became one of the first molecular genetic markers deployed in fisheries research worldwide. However, its suitability was questioned due to its potential for selection. While the issue of neutrality concerned the first population geneticists, markers under selection are now routinely used to study population genetic structure.
View Article and Find Full Text PDFLos olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population.
Breast Cancer Res
January 2025
Servicio de Oncología, Centro Universitario Contra el Cáncer (CUCC), Hospital Universitario "Dr. José Eleuterio González", Universidad Autónoma de Nuevo León, 66451, Monterrey, Nuevo León, México.
Background: Hereditary predisposition to breast and ovarian cancer syndrome (HBOC) is a pathological condition with increased cancer risk, including breast (BC), ovarian cancer (OC), and others. HBOC pathogenesis is caused mainly by germline pathogenic variants (GPV) in BRCA1 and BRCA2 genes. However, other relevant genes are related to this syndrome diagnosis, prognosis, and treatment, including TP53, PALB2, CHEK2, ATM, etc.
View Article and Find Full Text PDFGenomes and integrative genomic insights into the genetic architecture of main agronomic traits in the edible cherries.
Hortic Res
January 2025
College of Horticulture, Sichuan Agricultural University, Chengdu 611130, China.
Cherries are one of the economically important fruit crops in the Rosaceae family, genus. As the first fruits of the spring season in the northern hemisphere, their attractive appearance, intensely desirable tastes, high nutrients content, and consumer-friendly size captivate consumers worldwide. In the past 30 years, although cherry geneticists and breeders have greatly progressed in understanding the genetic and molecular basis underlying fruit quality, adaptation to climate change, and biotic and abiotic stress resistance, the utilization of cherry genomic data in genetics and molecular breeding has remained limited to date.
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