Purpose: To undertake the first substantial clinical study of breast radiotherapy toxicity in BRCA1 and BRCA2 mutation carriers in the United Kingdom.
Experimental Design: Acute and late radiation effects were evaluated in a retrospective study of 55 BRCA1 and BRCA2 mutation carriers treated with radiotherapy for breast cancer at four centers between 1983 and 2002. Individual matching with controls who had sporadic breast cancer was undertaken for age at diagnosis, time since completion of radiation, and treatment variables. Detailed assessments were undertaken by one examiner. Median follow-up was 6.75 years for carriers and 7.75 years for controls. Rates of late events (rib fractures, lung fibrosis, necrosis of soft tissue/bone, and pericarditis) as well as LENT-SOMA scores and clinical photography scores of breast size, shape, and skin telangiectasia were the primary end points.
Results: No increase in clinically significant late toxicity was seen in the mutation carriers.
Conclusions: These data add substantial weight to the evidence that the outcomes in the treated breast from radiotherapy in women with BRCA1 or BRCA2 mutations are comparable with those in women with sporadic breast cancer.
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http://dx.doi.org/10.1158/1078-0432.CCR-06-1244 | DOI Listing |
Int J Lab Hematol
December 2024
Department of Hematology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Background: δβ-thalassemia/HPFH is an uncommon hemoglobinopathy characterized by decreased or the total absence of production of δ- and β-globin and increased HbF levels. Both these disorders have variable genotype and phenotype, but significant overlap in the clinical and laboratory findings. Given the lack of literature in this regard, the study aimed to estimate the prevalence of the disease and evaluate its clinical, hematological, and molecular profile in India.
View Article and Find Full Text PDFEur J Neurol
January 2025
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.
Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.
Lipids Health Dis
December 2024
Department of Nephrology, The Fourth Affiliated Hospital, Guangxi Medical University, Liuzhou, Guangxi, 545005, People's Republic of China.
Background: Lipid metabolism is influenced by mutations in the EH domain binding protein 1 gene (EHBP1). This study investigated the link between the EHBP1 single-nucleotide polymorphisms (SNPs) and dyslipidemia risks in maintenance dialysis patients with end-stage renal disease in Chinese Han population.
Methods: A total of 539 patients were divided into dyslipidemia (379) and control (160) groups.
Virology
December 2024
Section of Infectious Diseases, Department of Internal Medicine, Yale University, New Haven, CT, United States. Electronic address:
CCR5, a co-receptor critical for R5-tropic HIV entry into host cells, remains a key target for therapeutic interventions. HIV utilizes CCR5, expressed on T cells and macrophages, to facilitate viral entry. Genetic variants, such as the CCR5Δ32 homozygous mutation that confers protection to HIV infection, have made CCR5 a main target for gene-editing technologies, small-molecule inhibitors, and monoclonal antibody-based therapies.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Center of Reproductive Medicine, Affiliated Children's Hospital of Shanxi & Women Health Center of Shanxi Medicine University, Taiyuan, Shanxi, China.
Introduction: This study investigated the impact of the carrier on transferable blastocyst rate and live birth outcomes in couples with structural chromosomal abnormalities.
Methods: Couples were grouped into reciprocal translocation, Robertsonian translocation, or inversions groups, and clinical data were retrospectively analyzed. Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) was conducted, and pregnancy outcomes were compared.
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