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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| Format: | Article |
| Language: | English |
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Termedia Publishing House
2024-09-01
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| Series: | Polish Journal of Pathology |
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| 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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| author | Neslihan Duzkale Onur Can Guler Suat Kutun Canan Emiroglu Serdar Saridemir Aysun Gokce Olcay Kandemir Tugba Taskın Turkmenoglu Serap Yorubulut Bahadır Kulah |
| author_facet | Neslihan Duzkale Onur Can Guler Suat Kutun Canan Emiroglu Serdar Saridemir Aysun Gokce Olcay Kandemir Tugba Taskın Turkmenoglu Serap Yorubulut Bahadır Kulah |
| author_sort | Neslihan Duzkale |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-cf4cc8d4eea24d769d42f79ece4c6429 |
| institution | Kabale University |
| issn | 1233-9687 2084-9869 |
| language | English |
| publishDate | 2024-09-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Polish Journal of Pathology |
| spelling | doaj-art-cf4cc8d4eea24d769d42f79ece4c64292025-01-27T11:36:07ZengTermedia Publishing HousePolish Journal of Pathology1233-96872084-98692024-09-0175319220410.5114/pjp.2024.14275054732The relationship between mutation carriage of BRCA1/2 and clinicopathological characteristics in women with breast cancer – experience from a diagnostic centre in TurkeyNeslihan DuzkaleOnur Can GulerSuat KutunCanan EmirogluSerdar SaridemirAysun GokceOlcay KandemirTugba Taskın TurkmenogluSerap YorubulutBahadır KulahThe 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.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.htmlbreast cancer triple-negative progesterone receptor oestrogen receptor brca1 brca2. |
| spellingShingle | Neslihan Duzkale Onur Can Guler Suat Kutun Canan Emiroglu Serdar Saridemir Aysun Gokce Olcay Kandemir Tugba Taskın Turkmenoglu Serap Yorubulut Bahadır Kulah The relationship between mutation carriage of BRCA1/2 and clinicopathological characteristics in women with breast cancer – experience from a diagnostic centre in Turkey Polish Journal of Pathology breast cancer triple-negative progesterone receptor oestrogen receptor brca1 brca2. |
| title | The relationship between mutation carriage of BRCA1/2 and clinicopathological characteristics in women with breast cancer – experience from a diagnostic centre in Turkey |
| title_full | The relationship between mutation carriage of BRCA1/2 and clinicopathological characteristics in women with breast cancer – experience from a diagnostic centre in Turkey |
| title_fullStr | The relationship between mutation carriage of BRCA1/2 and clinicopathological characteristics in women with breast cancer – experience from a diagnostic centre in Turkey |
| title_full_unstemmed | The relationship between mutation carriage of BRCA1/2 and clinicopathological characteristics in women with breast cancer – experience from a diagnostic centre in Turkey |
| title_short | The relationship between mutation carriage of BRCA1/2 and clinicopathological characteristics in women with breast cancer – experience from a diagnostic centre in Turkey |
| title_sort | the relationship between mutation carriage of brca1 2 and clinicopathological characteristics in women with breast cancer experience from a diagnostic centre in turkey |
| topic | breast cancer triple-negative progesterone receptor oestrogen receptor brca1 brca2. |
| url | 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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