TY  - JOUR
TI  - A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey
AB  - Objective: Breast cancer (BC) is the most common cancer type in women and may be inherited, mostly in an autosomal dominant pattern. The clinical diagnosis of BC relies on the published diagnostic criteria, and analysis of two genes, BRCA1 and BRCA2, which are strongly associated with BC, are included in these criteria. The aim of this study was to compare BC index cases with non-BC individuals in terms of genotype and diagnostic features to investigate the genotype/demographic information association. Materials and Methods: Mutational analyses for the BRCA1/BRCA2 genes was performed in 2475 individuals between 2013-2022 from collaborative centers across Turkey, of whom 1444 with BC were designated as index cases. Results: Overall, mutations were identified in 17% (421/2475), while the percentage of mutation carriers in cases of BC was similar, 16.6% (239/1444). BRCA1/BRCA2 gene mutations were detected in 17.8% (131/737) of familial cases and 12% (78/549) of sporadic cases. Mutations in BRCA1 were found in 4.9%, whereas 12% were in BRCA2 (p<0.05). Meta-analyses were performed to compare these results with other studies of Mediterranean-region populations. Conclusion: Patients with BRCA2 mutations were significantly more common than those with BRCA1 mutations. In sporadic cases, there was a lower proportion with BRCA1/BRCA2 variants, as expected, and these results were consistent with the data of Mediterranean-region populations. However, the present study, because of the large sample size, revealed more robust findings than previous studies. These findings may be helpful in facilitating the clinical management of BC for both familial and non-familial cases.
AU  - Boga, Ibrahim
AU  - ozemri sag, sebnem
AU  - Duman, Nilgün
AU  - Ozdemir, Yesim
AU  - Dalcı, Kubilay
AU  - MUJDE, Cem
AU  - PARSAK, CEM KAAN
AU  - ALEMDAR, ADEM
AU  - Aliyeva, Lamiya
AU  - Bozkurt, Ozlem
AU  - Ornek, Cemre
AU  - BAŞGÖZ, Neslihan
AU  - Öztürk, Figen
AU  - Taşkın, Duygu
AU  - CAG, MURAT
AU  - Diker, Omer
AU  - Olgun, Polat
AU  - tug bozdogan, sevcan
AU  - Temel, Sehime G
AU  - Yalav, Orcun
AU  - Gokce, Nuriye
AU  - Senol, Kazim
AU  - Rencüzoğulları, Çağla
AU  - Tolunay, Şahsine
AU  - Gökgöz, Mustafa Şehsuvar
AU  - Evrensel, Turkkan
AU  - Demirtas, Mercan
AU  - Dundar, Munis
AU  - çetintaş, sibel kahraman
AU  - Doğan, Berkcan
AU  - Bisgin, Atil
AU  - Dundar, Bilge
AU  - deligonul, adem
AU  - Akyurek, Esra
AU  - cubukcu, erdem
AU  - Sonmezler, Ozge
AU  - Ergoren, Mahmut Cerkez
DO  - 10.4274/ejbh.galenos.2023.2023-2-5
PY  - 2023
JO  - European Journal of Breast Health
VL  - 19
IS  - 3
SN  - 2587-0831
SP  - 235
EP  - 252
DB  - TRDizin
UR  - http://search/yayin/detay/1188841
ER  -