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Genetic etiology and phenotypic characteristics of fetuses with 11q deletion (11q23.3-q25) syndrome

ABSTRACT: To investigate the clinical phenotype, genetic etiology, and diagnosis of 11q deletion (11q-) syndrome. The differences and severity of fetal phenotypes may depend on the types and quantities of functional genes contained in fragments of different sizes.

ORGANISM(S): Homo sapiens

PROVIDER: GSE287321 | GEO | 2025/07/21

REPOSITORIES: GEO

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Genetic etiology and phenotypic characteristics of fetuses with 11q deletion (11q23.3-q25) syndrome

Project description:Genetic etiology and phenotypic characteristics of fetuses with 11q deletion (11q23.3-q25) syndrome

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A HUWE1 defect causes PARP inhibitor resistance by modulating the BRCA1-∆11q splice variant

Project description:Although PARP inhibitors (PARPi) now form part of the standard-of-care for the treatment of homologous recombination defective cancers, de novo and acquired resistance limits their overall effectiveness. Previously, overexpression of the BRCA1-∆11q splice variant has been shown to cause PARPi resistance. How cancer cells achieve increased BRCA1-∆11q expression has remained unclear. Using isogenic cells with different BRCA1 mutations, we show that reduction in HUWE1 leads to increased levels of BRCA1-∆11q and PARPi resistance. This effect is specific to cells able to express BRCA1-∆11q (e.g. BRCA1 exon 11 mutant cells) and is not seen in BRCA1 mutants that cannot express BRCA1-∆11q, nor in BRCA2 mutant cells. As well as increasing levels of BRCA1-∆11q protein in exon 11 mutant cells, HUWE1 silencing also restores RAD51 nuclear foci and platinum salt resistance. HUWE1 catalytic domain mutations were also seen in a case of PARPi resistant, BRCA1 exon 11 mutant, high grade serous ovarian cancer. These results suggest how elevated levels of BRCA1-∆11q and PARPi resistance can be achieved, identify HUWE1 as a candidate biomarker of PARPi resistance for assessment in future clinical trials and illustrate how some PARPi resistance mechanisms may only operate in patients with particular BRCA1 mutations.

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microRNA profile of high-grade B-cell lymphoma with 11q aberration

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The 11q-gain/loss aberration occurs recurrently in MYC-negative as well as MYC-positive Burkitt lymphoma and high grade B cell lymphoma

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