Please use this identifier to cite or link to this item: http://hdl.handle.net/11452/30698
Title: Clinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patients
Authors: Eskiler, Gamze Güney
Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji ve Genetik Anabilim Dalı.
Bursa Uludağ Üniversitesi/Tıp Fakültesi/Genel Cerrahi Anabilim Dalı.
Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Onkoloji Anabilim Dalı.
Bursa Uludağ Üniversitesi/Tıp Fakültesi/Radyasyon Onkolojisi Anabilim Dalı.
0000-0002-3820-424X
0000-0001-7904-883X
0000-0002-3760-9755
0000-0003-4913-3616
0000-0002-3316-316X
0000-0002-1619-6680
0000-0002-9732-5340
Çeçener, Gülşah
Takanlou, Leila Sabour
Takanlou, Maryam Sabour
Egeli, Ünal
Aksoy, Seçil
Ünal, Ufuk
Tezcan, Havva
Eryılmaz, Işıl Ezgi
Gökgöz, Mustafa Şehsuvar
Tunca, Berrin
Çubukçu, Erdem
Evrensel, Türkkan
Çetintaş, Sibel
Taşdelen, İsmet
GGI-6227-2022
EAS-6830-2022
GYU-0252-2022
EWY-5692-2022
ETP-1691-2022
EOI-5652-2022
EBN-1186-2022
6508156530
57211585974
57211582304
55665145000
57193933334
57211584917
57211580953
57189380840
57203870909
6602965754
53986153800
6603942124
6505881756
9637821500
Keywords: Breast cancer
BRCA1
BRCA2
Pathogenic mutations
Variant of uncertain significance
Ovarian-cancer
Germline mutations
Tumor characteristics
Physical-activity
Risk
Popoulation
Prevalence
Women
Associations
Vairants
Oncology
Genetics & heredity
Issue Date: 14-Oct-2019
Publisher: Elsevier Science
Citation: Çeçener, G. vd. (2020). "Clinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patients". Cancer Genetics, 240, 23-32.
Abstract: The 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.
URI: https://doi.org/10.1016/j.cancergen.2019.10.004
https://www.sciencedirect.com/science/article/pii/S2210776219303357
http://hdl.handle.net/11452/30698
ISSN: 2210-7762
2210-7770
Appears in Collections:PubMed
Scopus
Web of Science

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