Eskiler, Gamze Güney2023-01-302023-01-302019-10-14Çeçener, G. vd. (2020). "Clinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patients". Cancer Genetics, 240, 23-32.2210-77622210-7770https://doi.org/10.1016/j.cancergen.2019.10.004https://www.sciencedirect.com/science/article/pii/S2210776219303357http://hdl.handle.net/11452/30698The aim of this study was to identify the frequency and spectrum of germline BRCA1/2 pathogenic alterations in a cohort of patients with breast carcinoma. In this study, a total of 603 breast cancer subjects from Turkey were screened for BRCA1/BRCA2 mutations using HDA and Sanger sequencing. In the present study, 21 BRCA1 and BRCA2 pathogenic variants were detected in 30 patients and BRCA1/2 mutations were significantly associated with a family history of breast/ovarian cancer. Analysis of overall survival for BRCA1/BRCA2 mutation carriers showed a trend for poor overall survival only in BRCA1 carriers, although this was not statistically significant in BRCA1 and BRCA2 mutation carriers. The c.5266dupC mutation is one of the most frequently reported mutations in BRCA1 and was identified in five breast cancer patients in our study. The most common BRCA2 gene mutations in the present study were c.8940delA and c.9097dupA, which were found in seven patients. We found mostly BRCA1 and BRCA2 mutation carriers in those patients who showed hormone-positive features. In conclusion, our data showed differences in the distribution of the mutation spectrum of BRCA1 and BRCA2 in Turkey.eninfo:eu-repo/semantics/closedAccessBreast cancerBRCA1BRCA2Pathogenic mutationsVariant of uncertain significanceOvarian-cancerGermline mutationsTumor characteristicsPhysical-activityRiskPopoulationPrevalenceWomenAssociationsVairantsOncologyGenetics & heredityAdultBRCA1 proteinBRCA2 proteinBreastBreast neoplasmsBreast neoplasms, maleDisease-free survivalDNA mutational analysisFemaleFollow-up studiesGenetic predisposition to diseaseGerm-line mutationHumansKaplan-meier estimateMaleMiddle agedMutationTurkeyArticle0005182000000042-s2.0-85074537533233224031706072OncologyGenetics & heredityBRCA1 Gene; Breast Neoplasms; Germline MutationBRCA1 proteinBRCA1 protein, humanBRCA2 proteinBRCA2 protein, humanAdultArticleBreast carcinomaCancer gradingClinical featureCohort analysisControlled studyFamily historyFemaleGene frequencyGene mutationGenetic associationGenetic screeningGenetic traitGenetic variabilityHeteroduplex analysisHeterozygoteHumanHuman epidermal growth factor receptor 2 positive breast cancerLuminal A breast cancerLuminal B breast cancerMajor clinical studyMaleMiddle agedOvary cancerOverall survivalPathogenicityPriority journalSanger sequencingTriple negative breast cancerTumor suppressor geneTumor volumeTurkey (republic)BreastBreast tumorDisease free survivalDna mutational analysisEpidemiologyFollow upGenetic predispositionGeneticsGermline mutationKaplan Meier methodMortalityMutationPathologyTurkey (bird)