Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey

Bişgin, Atıl; Sağ, Şebnem Özemri; Doğan, Muhammet Ensar; Yıldırım, Mahmut Selman; Gumus, Aydeniz Aydin; Akkuş, Nejmiye; Balasar, Özgür; Durmaz, Ceren Damla; Ersoz, Recep; Altıner, Şule; Alemdar, Adem; Aliyeva, Lamia; Boğa, İbrahim; Çam, Fethi Sırrı; Dogan, Berkcan; Eşbah, Onur; Hanta, Abdullah; Mujde, Cem; Ornek, Cemre; Ozer, Sinem; Rencuzogullari, Cagla; Sonmezler, Ozge; Bozdoğan, Sevcan Tuğ; Dündar, Munis; Temel, Şehime Gülsün

doi:10.1016/j.breast.2022.06.005

Cited by 3 publications

(2 citation statements)

References 43 publications

(44 reference statements)

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“…In studies conducted in the cities of Istanbul and Bursa in Turkey, the frequency of BRCA1/2 mutations in women with breast cancer was 19% and 4.98%, respectively [24,25]. In the study conducted by Bisgin et al [26] across Turkey, the frequency of cancer patients with BRCA1/2 variants was the highest in the Central Anatolian region (62.28%), the lowest in the Eastern Anatolian region (12.9%), and the Mediterranean region had the frequency of 13.03%. The frequency of BRCA pathogenic variants of breast cancer patients in our study was 8.79%.…”

Section: Er -Estrogen Receptor Her2 -Human Epidermal Growth Factor Re...mentioning

confidence: 91%

“…Bisgin et al [26] also studied the distribution of pathogenic and likely pathogenic variants in the BRCA1/2 genes of clinically unaffected individuals and patients with breast cancer. They found that c.1444_1447delATTA, c.5266dupC, c.2800C > T, c.4327C > T and c.5123C > A pathogenic variants were common in the BRCA1 gene and c.2765dupT, c.9097dupA, c.7689delC, c.3751dupA and c.4169delT pathogenic variants were common in the BRCA2 gene [26]. Similarly, we found pathogenic variants of c.5266dupC, c.1444_1447delAT-TA, c.5123C > A and c.2800C > T in our study.…”

Section: Er -Estrogen Receptor Her2 -Human Epidermal Growth Factor Re...mentioning

confidence: 99%

See 1 more Smart Citation

Clinicopathological characteristics and BRCA1/BRCA2 pathogenic variants of patients with breast cancer

Eras,

Tuncel,

Altıntas

et al. 2024

pjp

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Although BRCA genes are well-known breast cancer genes, the clinicopathological features of breast cancer patients carrying BRCA1/2 pathogenic variants have not been adequately defined. The goals of this study were to determine the distribution of BRCA1/2 variants in the Turkish population and its correlation with clinicopathological features. Clinical data of 151 women who underwent BRCA1/2 gene testing at Mersin University Medical Faculty Hospital between 2016 and 2019 were retrospectively analyzed. BRCA1/2 variants were detected as pathogenic (n = 11), variants of uncertain significance (n = 5), likely benign (n = 3), and benign (n = 81) in breast cancer cases. The BRCA1/2 pathogenic variant carriers had a higher histological grade, rate of triplenegative type, Ki-67 proliferation index, and rate of no special type carcinoma than the group without mutation (p = 0.03, 0.01, 0.04, and 0.02 respectively). We analyzed the distribution of variants we detected in women living in our region and found that pathogenic variants in patients with breast cancer were associated with high histological grade, triple-negative type, high Ki-67 proliferation index, and histological type. Studies in diverse populations are needed to establish a clinicopathological relationship with variants more easily.

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Section: Er -Estrogen Receptor Her2 -Human Epidermal Growth Factor Re...mentioning

confidence: 91%

Section: Er -Estrogen Receptor Her2 -Human Epidermal Growth Factor Re...mentioning

confidence: 99%

Clinicopathological characteristics and BRCA1/BRCA2 pathogenic variants of patients with breast cancer

Eras,

Tuncel,

Altıntas

et al. 2024

pjp

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show abstract

Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus

Youssef,

Zekri,

Mohanad

et al. 2023

Clin Exp Med

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This study aimed to identify BRCA1/2 mutational patterns in the tissue and blood of Egyptian colorectal cancer (CRC) patients and to study the possible correlation of this mutational pattern with Human papillomavirus (HPV) infection. Eighty-two colonoscopic biopsies and forty-six blood samples were collected from Egyptian CRC patients, as well as blood samples of age and sex-matched healthy controls (n = 43) were enrolled. The libraries were performed using Qiaseq Human BRCA1 and BRCA2 targeted DNA panel and sequenced via Ion proton sequencer. Also, the CRC tissues were subjected to conventional PCR targeting the HPV Late 1 (L1) region. Our analysis revealed that the BRCA-DNA damage pathway had been altered in more than 65% of the CRC patients. Comparing tissue and blood samples from CRC patients, 25 somatic mutations were found exclusively in tissue, while 41 germline mutations were found exclusively in blood. Additionally, we identified 23 shared BRCA1/2 pathogenic (PVs) mutations in both blood and tissue samples, with a significantly higher frequency in blood samples compared to tissue samples. The most affected exon in BRCA1 was exon 10, while the most affected exons in BRCA2 were 11, 14, 18, 24, and 27 exons. Notably, we revealed an ethnic-related cluster of polymorphism variants in our population closely related to South Asian and African ethnicities. Novel PVs were identified and submitted to the ClinVar database. HPV was found in 23.8% of the CRC tissues, and 54% of HPV-positive cases had somatic BRCA1/2 PVs. The results of this research point to a possible connection between infection with HPV and BRCA1/2 mutations in the occurrence of colorectal cancer in the Egyptian population, which has a mixed ethnic background. Our data also indicate that liquid biopsy (blood samples) may be more representative than tissue samples for detecting BRCA1/2 mutations. These findings may have implications for cancer screening and the development of personalized, targeted therapies, such as PARP inhibitors, which can effectively target BRCA1/2 mutations.

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Frequency of germline pathogenic variants in breast cancer predisposition genes among young Turkish breast cancer patients

Isiklar,

Aliyeva,

Yesilyurt

et al. 2023

Breast Cancer Res Treat

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Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey

Cited by 3 publications

References 43 publications

Clinicopathological characteristics and BRCA1/BRCA2 pathogenic variants of patients with breast cancer

Clinicopathological characteristics and BRCA1/BRCA2 pathogenic variants of patients with breast cancer

Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus

Frequency of germline pathogenic variants in breast cancer predisposition genes among young Turkish breast cancer patients

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