Mutations of BRCA1/2 Genes in the West of Turkey and Genotype-Phenotype Correlations

Simple item page
dc.contributor.authorGun-Bilgic D.
dc.contributor.authorAydin-Gumus A.
dc.contributor.authorBilgic A.
dc.contributor.authorCam F.S.
dc.date.accessioned2024-07-22T08:05:10Z
dc.date.available2024-07-22T08:05:10Z
dc.date.issued2022
dc.description.abstractBackground: Mutations of the BRCA1/2 genes are associated with increased breast and ovarian cancer. The aim of this study was to investigate the founder mutations of the BRCA1 and BRCA2 genes in the Turkish population in the Aegean region as well as their genotype-phenotype correlations. Methods: All the patients were provided with BRCA1/2 testing criteria according to the National Comprehensive Cancer Network. QIAseq Targeted DNA Panels were used for the BRCA1/2 coding regions. Results: Of the 181 studied patients, 38 (21%) were found to carry pathogenic or likely pathogenic mutations, while 20 (11%) patients were found to carry variants of unknown significance. The most common pathogenic mu-tations were NM_000059.4:c.2765dup in the BRCA2 gene and NM_007300.4:c.981_982del and NM_007294.3:c. 5266dup in the BRCA1 gene. p.Lys3326∗Was the most frequently detected variant of unknown significance (6/ 181). Regarding genotype-phenotype correlations, the NM_007300.4:c.981_982del mutation in BRCA1 gene was found to be milder in terms of breast cancer. The most frequent cancers other than those related to BRCA genes, observed in the relatives of the patients who had pathogenic variants and variants of unknown significance, were endometrium cancer and leukemia, respectively. Conclusions: NM_007294.3:c.5266dup was found to be a candidate founder mutation in the Turkish population. NM_007300.4:c.981_982del mutation seems to have a milder course in terms of breast cancer. A significantly in-creased frequency of p.Lys3326∗variant in breast cancer and ovarian cancer patients compared with that in the 1,000 Genomes Project suggesting that this variant has a slight effect on BRCA2 function. © 2022 Verlag Klinisches Labor GmbH. All rights reserved.
dc.identifier.DOI-ID10.7754/Clin.Lab.2021.210425
dc.identifier.issn14336510
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/13023
dc.language.isoEnglish
dc.publisherVerlag Klinisches Labor GmbH
dc.subjectBRCA1 Protein
dc.subjectBreast Neoplasms
dc.subjectFemale
dc.subjectGenes, BRCA1
dc.subjectGenetic Association Studies
dc.subjectGenetic Predisposition to Disease
dc.subjectHumans
dc.subjectMutation
dc.subjectOvarian Neoplasms
dc.subjectTurkey
dc.subjectBRCA1 protein
dc.subjectBRCA2 protein
dc.subjectBRCA1 protein
dc.subjectBRCA1 protein, human
dc.subjectadult
dc.subjectaged
dc.subjectArticle
dc.subjectbreast cancer
dc.subjectendometrium cancer
dc.subjectfemale
dc.subjectgene mutation
dc.subjectgenetic variability
dc.subjectgenotype phenotype correlation
dc.subjecthuman
dc.subjectleukemia
dc.subjectmajor clinical study
dc.subjectnucleotide sequence
dc.subjectTurkey (republic)
dc.subjectbreast tumor
dc.subjectgenetic association study
dc.subjectgenetic predisposition
dc.subjectgenetics
dc.subjectmutation
dc.subjectovary tumor
dc.subjecttumor suppressor gene
dc.subjectturkey (bird)
dc.titleMutations of BRCA1/2 Genes in the West of Turkey and Genotype-Phenotype Correlations
dc.typeArticle

Files

Collections

Scopus Koleksiyonu