Search results for "Copy-number variation"

showing 2 items of 62 documents

SULT1A1 gene deletion in BRCA2-associated male breast cancer: a link between genes and environmental exposures?

2013

SULT1A1, a member of sulfotransferase superfamily, is a drug and hormone metabolizing enzyme involved in the metabolism of a variety of potential mammary carcinogens of endogenous and exogenous origin. Interestingly, the metabolic activity of SULT1A1 can be affected by varia- tions in gene copy number. Male Breast Cancer (MBC) is a rare disease and less investigated disease compared to female BC (FBC). As in FBC, the concurrent effects of genetic risk factors, particularly BRCA2 mutations, increased exposure to estrogens and environmental carcinogens play a relevant role in MBC. By quantitative real-time PCR with TaqMan probes, we investigated the presence of SULT1A1 gene copy number variat…

copy number variations (CNVs)MaleSettore MED/06 - Oncologia MedicaShort Communicationmale breast cancerDiseaseBiologyBreast Neoplasms Malecopy number variations (cnvs); brca2; sult1a1; male breast cancerPathogenesisSULT1A1 GeneSULT1A1 copy number variations (CNVs) BRCA2 male breast cancermedicineHumansGenetic Predisposition to DiseaseCopy-number variationskin and connective tissue diseasesGeneCarcinogenBRCA2 ProteinGeneticsEnvironmental ExposureCell BiologyEnvironmental exposuremedicine.diseaseBRCA2ArylsulfotransferaseMale breast cancerSULT1A1Molecular MedicineFemaleGene Deletion
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Intraoperative DNA methylation classification of brain tumors impacts neurosurgical strategy

2021

Abstract Background Brain tumor surgery must balance the benefit of maximal resection against the risk of inflicting severe damage. The impact of increased resection is diagnosis-specific. However, the precise diagnosis is typically uncertain at surgery due to limitations of imaging and intraoperative histomorphological methods. Novel and accurate strategies for brain tumor classification are necessary to support personalized intraoperative neurosurgical treatment decisions. Here, we describe a fast and cost-efficient workflow for intraoperative classification of brain tumors based on DNA methylation profiles generated by low coverage nanopore sequencing and machine learning algorithms. Met…

medicine.medical_specialtyFrozen section procedureSurgical strategyDNA methylationbusiness.industryBrain tumorClinical Investigationsmedicine.diseaseextent of resectionRandom forestResectionintraoperative diagnosticsDNA methylationmedicineAcademicSubjects/MED00300AcademicSubjects/MED00310RadiologyNanopore sequencingCopy-number variationnanoporebusinessbrain tumorNeuro-oncology Advances
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