Publications by authors named "Maxim A Huetzen"
Genetic predisposition is one of the major risk factors for pediatric cancer, with ~10% of children being carriers of a predisposing germline alteration. It is likely that this is the tip of the iceberg and many children are underdiagnosed, as most of the analysis focuses on single or short nucleotide variants, not considering the full spectrum of DNA alterations. Hence, we applied optical genome mapping (OGM) to our cohort of 34 pediatric cancer patients to perform an unbiased germline screening and analyze the frequency of structural variants (SVs) and their impact on cancer predisposition.
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- Rothmund-Thomson syndrome (RTS) is a disorder marked by symptoms like skin changes, short stature, and an increased risk of cancer, primarily linked to mutations in the RECQL4 and ANAPC1 genes; this study identifies RTS-like characteristics in five individuals with CRIPT gene variants.
- The research method involved comparing these individuals with known RTS cases through clinical assessments, photographic analysis, and skin biopsy studies, revealing significant similarities and additional neurological issues like developmental delays and seizures in CRIPT patients.
- Findings indicated CRIPT mutations contribute to an RTS-like condition highlighting increased cellular senescence, suggesting overlapping biological mechanisms between CRIPT and RECQL4-related syndromes.
Combined inhibition of EZH2 and ATM is synthetic lethal in BRCA1-deficient breast cancer.
Breast Cancer Res
June 2022
Background: The majority of BRCA1-mutant breast cancers are characterized by a triple-negative phenotype and a basal-like molecular subtype, associated with aggressive clinical behavior. Current treatment options are limited, highlighting the need for the development of novel targeted therapies for this tumor subtype.
Methods: Our group previously showed that EZH2 is functionally relevant in BRCA1-deficient breast tumors and blocking EZH2 enzymatic activity could be a potent treatment strategy.