The relationship between mutation carriage of BRCA1/2 and clinicopathological characteristics in women with breast cancer – experience from a diagnostic centre in Turkey
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 clinicopath...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Termedia Publishing House
2024-09-01
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| Series: | Polish Journal of Pathology |
| Subjects: | |
| Online Access: | https://www.termedia.pl/The-relationship-between-mutation-carriage-of-BRCA1-2-and-clinicopathological-characteristics-in-women-with-breast-cancer-experience-from-a-diagnostic-centre-in-Turkey,55,54732,1,1.html |
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| Summary: | 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. |
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| ISSN: | 1233-9687 2084-9869 |