Routine Plasma-Based Genotyping to Comprehensively Detect Germline, Somatic, and Reversion BRCA Mutations among Patients with Advanced Solid Tumors
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Cancer Research"
DOI: 10.1158/1078-0432.ccr-19-2933
Abstract: Purpose: PARP inhibitors (PARPi) are efficacious in multiple cancers harboring germline (and possibly somatic) BRCA1/2 mutations. Acquired reversions can restore BRCA1/2 function, causing resistance to PARPi and/or platinum-based chemotherapy. The optimal method of identifying patients… read more here.
Keywords: patients advanced; germline; brca1 mutations; germline somatic ... See more keywords
Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2021.673487
Abstract: DOCK8 deficiency is a combined immunodeficiency due to biallelic variants in dedicator of cytokinesis 8 (DOCK8) gene. The disease has a wide clinical spectrum encompassing recurrent infections (candidiasis, viral and bacterial infections), virally driven malignancies… read more here.
Keywords: reversion dock8; somatic reversion; function somatic; hypomorphic function ... See more keywords