Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast ovarian cancer patients

Simple item page
dc.citation.epage450en_US
dc.citation.issueNumber4en_US
dc.citation.spage444en_US
dc.citation.volumeNumber21en_US
dc.contributor.authorManguoglu, A. E.en_US
dc.contributor.authorLüleci, G.en_US
dc.contributor.authorÖzçelik, T.en_US
dc.contributor.authorÇolak, T.en_US
dc.contributor.authorSchayek, H.en_US
dc.contributor.authorAkaydin, M.en_US
dc.contributor.authorFriedman, E.en_US
dc.date.accessioned2019-02-04T12:46:56Z
dc.date.available2019-02-04T12:46:56Z
dc.date.issued2003en_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.departmentInstitute of Materials Science and Nanotechnology (UNAM)en_US
dc.description.abstractIn this study we genotyped Turkish breast/ovarian cancer patients for BRCA1/BRCA2 mutations: protein truncation test (PTT) for exon 11 BRCA1 of and, multiplex PCR and denaturing gradient gel electrophoresis (DGGE) for BRCA2, complemented by DNA sequencing. In addition, a modified restriction assay was used for analysis of the predominant Jewish mutations: 185delAG, 5382InsC, Tyr978X (BRCA1) and 6174delT (BRCA2). Eighty three breast/ovarian cancer patients were screened: twenty three had a positive family history of breast/ovarian cancer, ten were males with breast cancer at any age, in eighteen the disease was diagnosed under 40 years of age, one patient had ovarian cancer in addition to breast cancer and one patient had ovarian cancer. All the rest (n=30) were considered sporadic breast cancer cases. Overall, 3 pathogenic mutations (3/53‐5.7%) were detected, all in high risk individuals (3/23–13%): a novel (2990insA) and a previously described mutation (R1203X) in BRCA1, and a novel mutation (9255delT) in BRCA2. In addition, three missense mutations [two novel (T42S, N2742S) and a previously published one (S384F)] and two neutral polymorphisms (P9P, P2532P) were detected in BRCA2. Notably none of the male breast cancer patients harbored any mutation, and none of the tested individuals carried any of the Jewish mutations. Our findings suggest that there are no predominant mutations within exon 11 of the BRCA1 and in BRCA2 gene in Turkish high risk families.en_US
dc.description.provenanceSubmitted by Mustafa Er (mer@bilkent.edu.tr) on 2019-02-04T12:46:56Z No. of bitstreams: 1 Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast ovarian cancer patients.pdf: 48151 bytes, checksum: 505057cc8ed1a5ce121e817aca6b8176 (MD5)en
dc.description.provenanceMade available in DSpace on 2019-02-04T12:46:56Z (GMT). No. of bitstreams: 1 Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast ovarian cancer patients.pdf: 48151 bytes, checksum: 505057cc8ed1a5ce121e817aca6b8176 (MD5) Previous issue date: 2003en
dc.identifier.doi10.1002/humu.9119en_US
dc.identifier.eissn1098-1004
dc.identifier.issn1059-7794
dc.identifier.urihttp://hdl.handle.net/11693/48805
dc.language.isoEnglishen_US
dc.publisherJohn Wiley & Sons, Inc.en_US
dc.relation.isversionofhttps://doi.org/10.1002/humu.9119en_US
dc.source.titleHuman Mutationen_US
dc.subjectBRCA1en_US
dc.subjectBRCA2en_US
dc.subjectDGGEen_US
dc.subjectPTTen_US
dc.subjectTurkish populationen_US
dc.subjectHigh risk for breast canceren_US
dc.titleGermline mutations in the BRCA1 and BRCA2 genes in Turkish breast ovarian cancer patientsen_US
dc.typeArticleen_US

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast ovarian cancer patients.pdf
Size:
47.02 KB
Format:
Adobe Portable Document Format
Description:
Full printable version
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

Scholarly Publications - Molecular Biology and Genetics