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ISSN: 1233-9687
Polish Journal of Pathology
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abstract:
Original paper

The relationship between mutation carriage of BRCA1/2 and clinicopathological characteristics in women with breast cancer: experience from a diagnostic centre in Turkey

Neslihan Duzkale
1
,
Onur Can Guler
2
,
Suat Kutun
2
,
Canan Emiroglu
3
,
Serdar Saridemir
2
,
Aysun Gokce
4
,
Olcay Kandemir
4
,
Tugba Taskın Turkmenoglu
4
,
Serap Yorubulut
5
,
Bahadır Kulah
6

  1. Department of Medical Genetic, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey
  2. Department of Surgical Oncology, Ankara Dr Abdurrahman Yurtaslan Ankara Oncology Training and Research Hospital, Ankara, Turkey
  3. Department of Family Medicine, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey
  4. Department of Pathology, Ankara Etlik City Hospital, Ankara, Turkey
  5. Department of Statistics, Kırıkkale University, Faculty of Science and Letters, Ankara, Turkey
  6. Department of General Surgery, Ankara A Life Hospital, Ankara, Turkey
Pol J Pathol 2024; 75 (3):
DOI: https://doi.org/10.5114/pjp.2024.142750
Online publish date: 2024/09/05
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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.
keywords:

breast cancer, triple-negative, progesterone receptor, oestrogen receptor, BRCA1, BRCA2
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