@Article{Duzkale2024,
journal="Polish Journal of Pathology",
issn="1233-9687",
volume="75",
number="3",
year="2024",
title="The relationship between mutation carriage of BRCA1/2 and clinicopathological characteristics in women with breast cancer – experience from a diagnostic centre  in Turkey",
abstract="The 5–10% of breast cancers (BC) are hereditary, and BRCA1/2 are causative in 25% of those inherited. It was aimed to examine the BRCA1/2 genotype-BC phenotype relationship.  In 170 female patients with BC, BRCA1/2 genes were investigated using Next Generation Sequencing. Demographic and clinicopathological characteristics of the patients and correlations of pedigree analysis with BRCA1/2 mutation status were analysed.  BRCA1/2 carriage was found to be 9.4%. When the patients were grouped as  ≤ 40 and > 40 according to the age at diagnosis of BC, the tumour grade was higher in the ≤ 40 groups. In the study, BRCA1/2 carriage and tumour grade were higher in patients with triple-negative breast cancers (TNBC). The risk of TNBC was  5.560 times higher in BRCA1/2 carriers than in non-carriers.  There is a significant relationship between BRCA1/2 carrier and BC hormone receptor negativity, tumour grade, and BC diagnosis age.",
author="Duzkale, Neslihan
and Guler, Onur Can
and Kutun, Suat
and Emiroglu, Canan
and Saridemir, Serdar
and Gokce, Aysun
and Kandemir, Olcay
and Turkmenoglu, Tugba Taskın
and Yorubulut, Serap
and Kulah, Bahadır",
pages="192--204",
doi="10.5114/pjp.2024.142750",
url="http://dx.doi.org/10.5114/pjp.2024.142750"
}