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Bloom Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Bloom syndrome is a rare autosomal recessive disorder characterized by prenatal and postnatal growth deficiency, photosensitive skin lesions, moderate immune deficiency, insulin-resistant diabetes, and predisposition to early-onset cancer. Homozygous or compound heterozygous mutations in the BLM gene, which encodes for a RecQ helicase, contribute to excessive homologous recombination, increased frequency of SCE, and high chromosomal instability. Diagnosis of Bloom syndrome relies on observation of characteristic clinical and cytogenetic features (e.g., increased frequency of SEC). Molecular identification of BLM pathogenic variants helps confirm its diagnosis. In the absence of specific treatment for the underlying genetic abnormality, a multidiscipline approach consisting of sun protection, infection control, insulin-resistance surveillance, and early cancer detection provides benefits for affected patients. Further research and development on novel therapeutics that restore BLM function and/or block the excessive homologous recombination will greatly improve outcomes for Bloom syndrome sufferers.
Emerging Potential of In Vitro Diagnostic Devices: Applications and Current Status
Published in Debarshi Kar Mahapatra, Sanjay Kumar Bharti, Medicinal Chemistry with Pharmaceutical Product Development, 2019
Swarnali Das Paul, Gunjan Jeswani
There are total 11 records found for rapid home test kit for lutenizing hormone which determines ovulation efficiency in females in this duration. They work on the principle of visual color comparison. However, in last 6 years only one over the counter device is approved for detecting HIV antibodies. OraSure Technologies got approval for OraQuick, a Home HIV Test kit detected HIV antibodies from oral fluid in 2012. Recently in 2015, a rapid test device for Bloom syndrome (BLM) gene mutations got approval for Autosomal Recessive Carrier Screening Gene Mutation Detection System by 23andMe, Inc. [17]
Associated disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
Bloom syndrome is a rare genetic disorder caused by a defect in the gene that codes for the BLM protein (DNA helicase RecQ protein-like-3). The role of the protein is not known. This disorder is more prevalent in the Eastern European Ashkenazi Jewish population.
Ras-Mediated Activation of NF-κB and DNA Damage Response in Carcinogenesis
Published in Cancer Investigation, 2020
Arora et al. studied the transcriptomics and protein expression analysis about the significance of bloom syndrome helicase (BLM) in breast cancer and report that BLM has a significant function in homologous recombination repair. Any mutation in BLM predisposes the organism to multiple types of cancer including breast cancer (202). Qian studied the regulation of prostate cancer cell proliferation and apoptosis by BLM and stated that BLM functions in uncoiling the double stranded DNA structure and acting as a “genome caretaker” and its dysregulation predisposes into multiple tumor types (203). Patel et al. report that BLM contributes to the maintenance of genome integrity and individuals with BLM mutations are affected by Bloom Syndrome and susceptibility to a number of malignancies at an early age. BLM acts at many of the stages of homologous recombination repair in DNA double strand break repair pathway (204). Aldubayan and coworkers studied the inherited defects in checkpoint kinase 2 (CHEK2) to confer increased susceptibility to testicular germ cell tumors and reported that 33% of detected DNA repair gene mutations were there in CHEK2 which constituted most commonly mutated gene in testicular germ cell tumor patients. They concluded that CHEK2 mutation carriers lead to the development of testicular germ cell tumors and established CHEK2 as novel testicular germ cell tumor susceptibility gene making it the first clinically informative molecular biomarker (205). Siołek et al. report that mutations in tumor suppressor gene CHEK2 are linked with multi-organ cancer susceptibility including breast and prostate. In the past, a genetic association of thyroid with breast cancer has been established, so patients were screened for CHEK2 mutations and authors reported that CHEK2 mutations predispose to thyroid cancer also and familial aggregation of breast and thyroid cancer (206).
Ribosomopathies and cancer: pharmacological implications
Published in Expert Review of Clinical Pharmacology, 2022
Gazmend Temaj, Sarmistha Saha, Shpend Dragusha, Valon Ejupi, Brigitta Buttari, Elisabetta Profumo, Lule Beqa, Luciano Saso
5) Blooms (BS) and Werner Syndrome (WRNS) are autosomal recessive diseases that are characterized by growth retardation, cataract, skin atrophy, and cancer predisposition [247]. Mutation of the BLM gene is responsible for Bloom syndrome, whereas mutation of the WRN gene causes Werner syndrome. Both BLM and WRN are members of the nuclear helicase family localized in the nucleolus in the S phase [248]. These proteins are involved in regulating rDNA transcription [249].