Coffin-Siris syndrome and cancer susceptibility

Borja, Nicholas; Vergano, Samantha Schrier; Tekin, Mustafa

doi:10.1016/j.gimo.2023.100818

Cited by 1 publication

(1 citation statement)

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“…Solid tumors, however, encompass giant cell fibroblastoma, or tanycytic spinal ependymoma (Boniel et al 2021b ). Third, Coffin-Siris syndrome has been associated with medulloblastoma, neuroblastoma, schwannomatosis, hepatoblastoma, acute lymphoblastic leukemia, Sertoli-Leydig cell tumor, temporal glioneuronal tumor, papillary thyroid carcinoma, small-cell carcinoma of the ovary, hypercalcemic type, and anaplastic astrocytoma (Borja et al 2023 ). Finally, medulloblastoma, neuroblastoma, glioma, neuroma, neurilemmoma, pheochromocytoma, diffuse large-cell B-cell lymphoma, breast cancer, breast adenocarcinoma, hepatoblastoma, parathyroid adenoma, thymoma, thyroid cancer, non-small cell lung carcinoma, acute lymphoblastic leukemia, acute megakaryoblastic leukemia, colon carcinoma, colon cancer, leiomyosarcoma omentum, leiomyosarcoma, rhabdomyosarcoma, granular cell tumor, fibrolipoma, endometrium adenocarcinoma, and serous ovarian carcinoma were noted within Rubinstein-Taybi syndrome.…”

Section: Clinical Manifestation and Common Phenotypic Featuresmentioning

confidence: 99%

Chromatinopathies: insight in clinical aspects and underlying epigenetic changes

Bukowska-Olech,

Majchrzak-Celińska,

Przyborska

et al. 2024

J Appl Genetics

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Chromatinopathies (CPs), a group of rare inborn defects characterized by chromatin state imbalance, have evolved from initially resembling Cornelia de Lange syndrome to encompass a wide array of genetic diseases with diverse clinical presentations. The CPs classification now includes human developmental disorders caused by germline mutations in epigenes, genes that regulate the epigenome. Recent advances in next-generation sequencing have enabled the association of 154 epigenes with CPs, revealing distinctive DNA methylation patterns known as episignatures.It has been shown that episignatures are unique for a particular CP or share similarities among specific CP subgroup. Consequently, these episignatures have emerged as promising biomarkers for diagnosing and treating CPs, differentiating subtypes, evaluating variants of unknown significance, and facilitating targeted therapies tailored to the underlying epigenetic dysregulation.The following review was conducted to collect, summarize, and analyze data regarding CPs in such aspects as clinical evaluation encompassing long-term patient care, underlying epigenetic changes, and innovative molecular and bioinformatic methodologies that have been devised for the assessment of CPs. We have also shed light on promising novel treatment options that have surfaced in recent research and presented a synthesis of ongoing clinical trials, contributing to the current understanding of the dynamic and evolving nature of CPs investigation.

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Section: Clinical Manifestation and Common Phenotypic Featuresmentioning

confidence: 99%