A new method, based on gene editing with oligonucleotides and functional analyses, identifies which variants of DNA repair genes associated with Lynch syndrome are truly harmful and which are not.
No gene acts alone: interacting variants and protein partnerships can worsen, mask or even rescue disease risk, demanding ...
Introduction Inherited cardiac conditions, including dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM), may ...
Protein tyrosine phosphatase non-receptor type 2 ( PTPN2 ) is a tyrosine phosphatase involved in T cell receptor signal ...
A nationwide Australian pilot screened more than 10,000 adults aged 18–40 years for high-risk genetic variants linked to ...
Genetic risk models, including PREMMplus and BOADICEA/CanRisk, refine breast cancer risk assessment by incorporating genetic status and polygenic risk scores. Challenges in classifying gene variants, ...
Extra screening tested in veterans who had undergone genetic testing for unrelated reasons ...
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