Publications by authors named "M Suerink"

Article Synopsis
  • Constitutional mismatch repair deficiency (CMMRD) is a rare genetic condition that significantly increases the lifetime risk of various cancers and has distinct non-cancer features, leading to evolving diagnosis and surveillance practices.* -
  • A comprehensive set of 82 recommendations for CMMRD diagnosis, surveillance, and clinical management has been developed by experts to standardize care across Europe, incorporating new research findings and patient input.* -
  • These recommendations provide detailed guidelines regarding testing criteria, age of initiation, frequency of surveillance, cancer treatment, and quality of life considerations—allowing for personalized adjustments based on individual patient needs.*
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Background: Chondrodysplasia punctata 1 (CDPX1) is an X-linked recessive disorder of cartilage and bone development characterized by stippling on the cartilage and bone, flattened nasal bridge, and brachydactyly, or short fingers. CDPX1 has been associated with variants in the ARSL gene and is known to manifest prenatally, however, there has been no systematic literature review on this evidence.

Aims: Here, we reviewed the current literature on prenatal manifestations of CDPX1, and additionally introduce previously unpublished cases.

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Background: This study investigates the potential influence of genotype and parent-of-origin effects (POE) on the clinical manifestations of Lynch syndrome (LS) within families carrying (likely) disease-causing MSH6 germline variants.

Patients And Methods: A cohort of 1615 MSH6 variant carriers (310 LS families) was analyzed. Participants were categorized based on RNA expression and parental inheritance of the variant.

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Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5].

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