{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T13:23:34Z","timestamp":1769606614883,"version":"3.49.0"},"reference-count":16,"publisher":"Wiley","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p><jats:italic>Aims.<\/jats:italic>To develop a fast and robust DNA-based assay to detect insertions and deletions mutations in exon 34 that encodes the PEST domain of<jats:italic>NOTCH1<\/jats:italic>in order to evaluate patients with chronic lymphocytic leukemia (CLL).<jats:italic>Methods.<\/jats:italic>We designed a multiplexed allele-specific polymerase chain reaction (PCR) combined with a fragment analysis assay to detect specifically the mutation c.7544_7545delCT and possibly other insertions and deletions in exon 34 of<jats:italic>NOTCH1<\/jats:italic>.<jats:italic>Results.<\/jats:italic>We evaluated our assay in peripheral blood samples from two cohorts of patients with CLL. The frequency of<jats:italic>NOTCH1<\/jats:italic>mutations was 8.4% in the first cohort of 71 unselected CLL patients. We then evaluated a second cohort of 26 CLL patients with known cytogenetic abnormalities that were enriched for patients with trisomy 12.<jats:italic>NOTCH1<\/jats:italic>mutations were detected in 43.7% of the patients with trisomy 12.<jats:italic>Conclusions.<\/jats:italic>We have developed a fast and robust assay combining allele-specific PCR and fragment analysis able to detect<jats:italic>NOTCH1<\/jats:italic>PEST domain insertions and deletions.<\/jats:p>","DOI":"10.1155\/2016\/4247908","type":"journal-article","created":{"date-parts":[[2016,12,16]],"date-time":"2016-12-16T22:35:21Z","timestamp":1481927721000},"page":"1-5","source":"Crossref","is-referenced-by-count":4,"title":["A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia"],"prefix":"10.1155","volume":"2016","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6005-405X","authenticated-orcid":true,"given":"Paulo Vidal","family":"Campregher","sequence":"first","affiliation":[{"name":"Departments of Hematology and Clinical Pathology, and Research Institute, Hospital Israelita Albert Einstein, S\u00e3o Paulo, SP, Brazil"},{"name":"Department of Hematology, Universidade Estadual de Campinas (Hemocentro-Unicamp), Campinas, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta Cardoso","family":"Petroni","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology, Hospital Israelita Albert Einstein, S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nair Hideko","family":"Muto","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology, Hospital Israelita Albert Einstein, S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Sitnik","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology, Hospital Israelita 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