A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey

• Published in: European journal of breast health Vol. 19; no. 3; pp. 235 - 252
• Main Authors: Boga, Ibrahim, Ozemri Sag, Sebnem, Duman, Nilgun, Ozdemir, Sevda Yesim, Ergoren, Mahmut Cerkez, Dalci, Kubilay, Mujde, Cem, Parsak, Cem Kaan, Rencuzogullari, Cagla, Sonmezler, Ozge, Yalav, Orcun, Alemdar, Adem, Aliyeva, Lamiya, Bozkurt, Ozlem, Cetintas, Sibel, Cubukcu, Erdem, Deligonul, Adem, Dogan, Berkcan, Ornek Erguzeloglu, Cemre, Evrensel, Turkkan, Gokgoz, Sehsuvar, Senol, Kazim, Tolunay, Sahsine, Akyurek, Esra, Basgoz, Neslihan, Gökçe, Nuriye, Dundar, Bilge, Ozturk, Figen, Taskin, Duygu, Demirtas, Mercan, Cag, Murat, Diker, Omer, Olgun, Polat, Tug Bozdogan, Sevcan, Dundar, Munis, Bisgin, Atil, Temel, Sehime Gulsun
• Format: Journal Article
• Language: English
• Published: Turkey Galenos Publishing 01.07.2023; Galenos Publishing House
• Subjects: brca1; brca2; breast cancer; genomic profiling; Original; population study; population study; genomic profiling; Breast cancer; BRCA1; BRCA2
• ISSN: 2587-0831; 2587-0831
• DOI: 10.4274/ejbh.galenos.2023.2023-2-5

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, and , 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. Mutational analyses for the genes was performed in 2475 individuals between 2013-2022 from collaborative centers across Turkey, of whom 1444 with BC were designated as index cases. Overall, mutations were identified in 17% (421/2475), while the percentage of mutation carriers in cases of BC was similar, 16.6% (239/1444). gene mutations were detected in 17.8% (131/737) of familial cases and 12% (78/549) of sporadic cases. Mutations in were found in 4.9%, whereas 12% were in (p<0.05). Meta-analyses were performed to compare these results with other studies of Mediterranean-region populations. Patients with mutations were significantly more common than those with mutations. In sporadic cases, there was a lower proportion with 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.