Highlights
• A similar percentage of clinically unaffected individuals were also identified with potentially pathogenic variants.
• Based on the geographic examinations, Eastern Anatolian and the Mediterranean region had the lowest positivity rates.
• The Southeastern Anatolian region showed the lowest density of both patients and clinically relevant genetic changes.
Abstract
BRCA1/2 mutations play a significant role in cancer pathogenesis and predisposition particularly in breast, ovarian and prostate cancers. Thus, germline analysis of BRCA1 and BRCA2 is essential for clinical management strategies aiming at the identification of recurrent and novel mutations that could be used as a first screening approach. We analyzed germline variants of BRCA1/2 genes for 2168 individuals who had cancer diagnosis or high risk assessment due to BRCAs related cancers, referred to 10 health care centers distributed across 7 regions covering the Turkish landscape. Overall, 68 and 157 distinct mutations were identified in BRCA1 and BRCA2, respectively. Twenty-two novel variants were reported from both genes while BRCA2 showed higher mutational heterogeneity. We herein report the collective data as BRCA Turkish consortium that confirm the molecular heterogeneity in BRCAs among Turkish population, and also as the first study presenting the both geographical, demographical and gene based landscape of all recurrent and novel mutations which some might be a founder effect in comparison to global databases. This wider perspective leads to the most accurate variant interpretations which pave the way for the more precise and efficient management affecting the clinical and molecular aspects.
Keywords
BRCA profiling, BRCA landscape, Population study, Genomic screening
Citation
@online{prof.atılbi̇şgi̇n,
author = {Assoc. Prof. Atıl BİŞGİN and Assoc. Prof. Şebnem ÖZEMRİ SAĞ
and Asst. Prof. Muhammet Ensar DOĞAN and Prof. Mahmut Selman
YILDIRIM and Aydeniz Aydin Gumus and Nejmiye Akkus and Ozgur Balasar
and Ceren Damla Durmaz and Recep Eroz and Sule Altiner and Adem
Alemdar and Lamia Aliyeva and İbrahim Boga, PhD and Fethi S. Cam and
Berkcan Dogan and Onur Esbah and Abdullah Hanta and Cem Müjde, Dvm,
Phd and Cemre Ornek and Çağla Rencüzoğulları, Phd and Özge
Sönmezler, PhD and Prof. Sevcan TUĞ BOZDOĞAN and Prof. MUNİS DÜNDAR
and Prof. Şehime GÜLSÜN TEMEL},
title = {Germline Landscape of {BRCAs} by 7-Site Collaborations as a
{BRCA} Consortium in {Turkey}},
url = {https://www.mdpi.com/2073-4425/12/2/206#cite},
langid = {en}
}