Genomic Large Rearrangement Screening of BRCA1 and BRCA2 Genes in High-Risk Turkish Breast/Ovarian Cancer Patients by Using Multiplex Ligation-Dependent Probe Amplification Assay

Esra ManguoğluFaculty of Medicine, Department of Medical Biology, Akdeniz University, Antalya, Turkey, Department of Medical Biology, Gulhane Military Medical Academy, Ankara, Turkey, Faculty of Medicine, Department of Internal Medicine, Gazi University, Ankara, Turkey, Departments of Obstetrics and Gynecology, Surgery, Biostatistics, Faculty of Medicine, Akdeniz University, Antalya, Turkey Correspondence[email protected]

Şefik GüranFaculty of Medicine, Department of Medical Biology, Akdeniz University, Antalya, Turkey, Department of Medical Biology, Gulhane Military Medical Academy, Ankara, Turkey, Faculty of Medicine, Department of Internal Medicine, Gazi University, Ankara, Turkey, Departments of Obstetrics and Gynecology, Surgery, Biostatistics, Faculty of Medicine, Akdeniz University, Antalya, Turkey Correspondence[email protected]

Deniz YamaçFaculty of Medicine, Department of Medical Biology, Akdeniz University, Antalya, Turkey, Department of Medical Biology, Gulhane Military Medical Academy, Ankara, Turkey, Faculty of Medicine, Department of Internal Medicine, Gazi University, Ankara, Turkey, Departments of Obstetrics and Gynecology, Surgery, Biostatistics, Faculty of Medicine, Akdeniz University, Antalya, Turkey

Mehmet ŞimşekFaculty of Medicine, Department of Medical Biology, Akdeniz University, Antalya, Turkey, Department of Medical Biology, Gulhane Military Medical Academy, Ankara, Turkey, Faculty of Medicine, Department of Internal Medicine, Gazi University, Ankara, Turkey, Departments of Obstetrics and Gynecology, Surgery, Biostatistics, Faculty of Medicine, Akdeniz University, Antalya, Turkey

Selime AkdenizFaculty of Medicine, Department of Medical Biology, Akdeniz University, Antalya, Turkey, Department of Medical Biology, Gulhane Military Medical Academy, Ankara, Turkey, Faculty of Medicine, Department of Internal Medicine, Gazi University, Ankara, Turkey, Departments of Obstetrics and Gynecology, Surgery, Biostatistics, Faculty of Medicine, Akdeniz University, Antalya, Turkey

Taner ÇolakFaculty of Medicine, Department of Medical Biology, Akdeniz University, Antalya, Turkey, Department of Medical Biology, Gulhane Military Medical Academy, Ankara, Turkey, Faculty of Medicine, Department of Internal Medicine, Gazi University, Ankara, Turkey, Departments of Obstetrics and Gynecology, Surgery, Biostatistics, Faculty of Medicine, Akdeniz University, Antalya, Turkey

Hakan GülkesenFaculty of Medicine, Department of Medical Biology, Akdeniz University, Antalya, Turkey, Department of Medical Biology, Gulhane Military Medical Academy, Ankara, Turkey, Faculty of Medicine, Department of Internal Medicine, Gazi University, Ankara, Turkey, Departments of Obstetrics and Gynecology, Surgery, Biostatistics, Faculty of Medicine, Akdeniz University, Antalya, Turkey

Güven LüleciFaculty of Medicine, Department of Medical Biology, Akdeniz University, Antalya, Turkey, Department of Medical Biology, Gulhane Military Medical Academy, Ankara, Turkey, Faculty of Medicine, Department of Internal Medicine, Gazi University, Ankara, Turkey, Departments of Obstetrics and Gynecology, Surgery, Biostatistics, Faculty of Medicine, Akdeniz University, Antalya, Turkey

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Abstract

In this study, MLPA assay was performed for detection of large rearrangements of BRCA1 and BRCA2 genes in 16 familial, 29 early onset, 3 male breast cancer, and 2 bilateral breast/ovarian cancer high risk Turkish index cases. MLPA assay for all exons of both genes and for 1100delC variant of CHEK2 gene were performed. Analyses, revealed no large genomic rearrangements in both genes, and, no 1100del variant in CHEK2 gene. Our data which represents the first results for Turkish patients, suggest that, the frequency of BRCA1 and BRCA2 genes’ large rearrangements is very low.

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Genomic Large Rearrangement Screening of BRCA1 and BRCA2 Genes in High-Risk Turkish Breast/Ovarian Cancer Patients by Using Multiplex Ligation-Dependent Probe Amplification Assay

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Genomic Large Rearrangement Screening of BRCA1 and BRCA2 Genes in High-Risk Turkish Breast/Ovarian Cancer Patients by Using Multiplex Ligation-Dependent Probe Amplification Assay

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