Please use this identifier to cite or link to this item: http://hdl.handle.net/11452/24482
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dc.contributor.authorUrbano, K. V.-
dc.date.accessioned2022-02-15T10:28:52Z-
dc.date.available2022-02-15T10:28:52Z-
dc.date.issued2010-
dc.identifier.citationÇeçener, G. vd. (2010). "Frame-shift mutations in BRCA1 and BRCA2 genes in Turkish families with breast and/or ovarian cancer". ed. K. V. Urbano. Advances in Genetics Research Series, Advances in Genetics Research, 2, 121-128en_US
dc.identifier.urihttp://hdl.handle.net/11452/24482-
dc.description.abstractIt is well established that mutations in BRCA1 and BRCA2 genes significantly increase the risk of breast and/or ovarian cancer. Notably frame-shift mutations of BRCA1 and BRCA2 genes were linked to high risk. To date, all of studies in our country investigated a total of 415 Turkish high-risk families for germline BRCA1 and BRCA2 mutations using a variety of screening techniques. The authors found that the rate of germline mutations in both genes among high-risk Turkish families was approximately 10 percent, which is consistent with our finding. About eighty percent of the total mutation rate contain frame-shift mutations. These frame-shift mutations were analyzed 29 different types. They were detected 15 in BRCA1 and 14 in BRCA2. Sixteen of these mutations were novel in Turkish families. In analyzing Turkish high-risk families, no founder mutations in BRCA1/BRCA2 genes were detected. One exception is the 5382insC BRCA1 gene mutation. The data from all Turkish patients with breast and/or ovarian cancer indicate that only the 5382insC mutation occurs at a low rate ( 6/415-about 1.45%) in Turkish patients. Yet, none of the other frame-shift mutations was incorporated into the Turkish population. Our findings suggest that there are no predominant frame-shift mutations in BRCA1/BRCA2 gene in Turkish high risk families. Our contribution broadens the BRCA1/BRCA2 world mutational spectra.en_US
dc.language.isoenen_US
dc.publisherNova Science Publishersen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectGerm-line BRCA1en_US
dc.subjectHereditary breasten_US
dc.subjectFounder mutationsen_US
dc.subjectBRCA1/BRCA2en_US
dc.subjectPopulationen_US
dc.subjectPrevalenceen_US
dc.subject185DELAGen_US
dc.subjectWomanen_US
dc.subjectProportionen_US
dc.subject5382INSCen_US
dc.subjectGenetics & heredityen_US
dc.subjectResearch & experimental medicineen_US
dc.titleFrame-shift mutations in BRCA1 and BRCA2 genes in Turkish families with breast and/or ovarian canceren_US
dc.typeArticleen_US
dc.typeBook Chapteren_US
dc.identifier.wos000281539600008tr_TR
dc.identifier.scopus2-s2.0-85030231657tr_TR
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0002-3820-424Xtr_TR
dc.identifier.startpage121tr_TR
dc.identifier.endpage128tr_TR
dc.identifier.volume2tr_TR
dc.relation.journalAdvances in Genetics Research Series, Advances in Genetics Research.en_US
dc.contributor.buuauthorÇeçener, Gülşah-
dc.contributor.researcheridAAP-9988-2020tr_TR
dc.subject.wosGenetics & Heredityen_US
dc.subject.wosMedicine, research & experimentalen_US
dc.indexed.wosBKCISen_US
dc.indexed.scopusScopusen_US
dc.contributor.scopusid6508156530tr_TR
dc.subject.scopusBRCA1 Gene; Familial Breast Cancer; Germline Mutationen_US
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