Categoría: Articulos
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Association of MUTYH mutations with breast cancer risk and adverse prognosis: a Chinese cohort study
WHAT IS ALREADY KNOWN ON THIS TOPICBefore this study, MUTYH’s established role was primarily in colorectal cancer syndromes, and large-scale evidence on its germline mutations in breast cancer—particularly among Chinese women—was abse…
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Hereditary lung and liver disease successfully treated for the first time using gene correction
Alpha-1 antitrypsin deficiency (AATM) is a congenital metabolic disorder. It is caused by a genetic defect, which results in the protective protein alpha-1 antitrypsin (AAT) being produced incorrectly. This deficiency primarily damages the lungs and th…
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Rapid genome sequencing helps guide care for about 50% of children with cancer
Two studies involving investigators at Cedars-Sinai Guerin Children’s and the University of Cambridge, U.K., highlight the growing potential of whole-genome sequencing to transform the diagnosis and treatment of childhood conditions such as cerebral pa…
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Navigating the complexity of BRCA1/BRCA2 constitutional mosaicism: a case report and literature review exploring clinical, molecular and genetic counselling approaches
WHAT IS ALREADY KNOWN ON THIS TOPICConstitutional mosaicism resulting from postzygotic events affecting BRCA1 or BRCA2 is extremely rare.It can evade conventional germline testing strategies and complicate cancer risk assessment and genetic counselling…