Germline mutations of BRCA1 and BRCA2 genes in Turkish breast, ovarian, and prostate cancer patients

Manguoğlu, Esra; Guran, Sefik; Yamaç, Deniz; Çolak, Taner; Şi̇mşek, Mehmet; Baykara, Mehmet; Akaydin, M; Lülecı, Güven

doi:10.1016/j.cancergencyto.2010.07.125

Cited by 23 publications

(16 citation statements)

References 38 publications

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“…185delAG mutation in BRCA1 was detected in only one patient with hereditary breast ovarian cancer syndrome from Turkish population 30 . Like our results, 6174delT mutation in BRCA2 gene were not detected in any of the studies investigating the frequencies of common BRCA1 and BRCA2 gene mutations in breast/ovarian cancer patients in Turkish population 15,[17][18][19][20][21][22][23][24]30 .…”

Section: Discussionsupporting

confidence: 78%

“…These gene mutations also have been studied in other populations in several studies [14][15][16] . In previous studies, the BRCA1 5382insC mutation has been detected in breast/ovarian cancer patients from Turkish population 15,[17][18][19][20][21][22][23][24] . However, we couldn't detect this mutation any of our early-onset breast cancer patients.…”

Section: Discussionmentioning

confidence: 99%

“…Different patient selection criteria and different mutation detection methods were applied, no predominant mutation was observed in Turkish population 15,[17][18][19][20][21][22][23][24][30][31][32][33][34] .…”

Section: Discussionmentioning

confidence: 99%

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Meme Kanserli̇ Hastalarda Brca1 Ve Brca2 Gen Mutasyonlarinin Değerlendi̇ri̇lmesi̇

Karakuş¹,

Kara²,

Yiğit³

et al. 2017

Cumhuriyet Medical Journal

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SUMMARYObjective: Worldwide, breast cancer is the most common malignancy among women. In Turkey, breast cancer is also the most common cancer among women with the frequency of 25% of all female cancers. Germline mutations in tumor suppressor genes (BRCA1 and BRCA2) cause genetic susceptibility to malignancies and are responsible for 5-10% of all breast and ovarian cancers. Women carrying mutations in BRCA1 or BRCA2 genes are at high risk to develop breast cancer, especially before the age of 45. The aim of this study was to determine the frequencies of the most common BRCA1 and BRCA2 gene mutations (185delAG and 5382insC in BRCA1 gene and 6174delT in BRCA2) in patients with early-onset breast cancer in a Turkish population. Method: 50 female early-onset (≤45) breast cancer patient were included in this study. The common BRCA1 and BRCA2 gene mutations were determined using conventional DNA sequencing. Results: The patient's ages ranged from 28 to 45 years with a mean age of 40.08±4.275 years. The 185delAG (rs386833395) and 5382insC (rs397507246) mutations of BRCA1 gene and 6174delT (rs80359550) mutation of BRCA2 gene were analyzed in 50 breast cancer patients. These three mutations were not observed any of the breast cancer patients including in our study. Conclusions: Our results showed that BRCA1 gene 185delAG and 5382insC mutations and BRCA2 gene 6174delT mutation are not common in Turkish breast cancer patients. It is believed that there might be other mutations of BRCA1/2 genes or other genes rather than BRCA1/2 that might be responsible for breast cancer in Turkish population. Keywords : Breast cancer; BRCA1; BRCA2; mutation; sequencing ÖZET Amaç: Dünya çapında, meme kanseri kadınlarda en sık görülen kanserdir. Türkiye'de de meme kanseri tüm kadın kanserlerinin %25'i gibi bir sıklıkta kadınlarda en sık görülen kanserdir. Tümör baskılayıcı genlerdeki (BRCA1 ve BRCA2) germline mutasyonlar kanser için genetik yatkınlığa neden olur ve tüm meme ve yumurtalık kanserlerinin %5-10'undan sorumludur. BRCA1 veya BRCA2 genlerinde mutasyon taşıyan kadınlar, özellikle 45 yaşından önce meme kanserine yakalanmak için yüksek riske sahiptir. Bu çalışmanın amacı, en yaygın olan BRCA1 ve BRCA2 gen mutasyonlarının, Türk populasyonunda erken yaş meme kanserli hastalardaki sıklığını belirlemektir. Yöntem: Bu çalışmaya, erken yaş (≤45) meme kanserli 50 kadın hasta dahil edilmiştir. Yaygın BRCA1 ve BRCA2 gen mutasyonları, geleneksel DNA dizileme tekniği kullanılarak belirlenmiştir. Bulgular: Yaşları 28 ila 45 yıl arasında değişen hastaların yaş ortalaması 40.08 ± 4.275 olarak belirlenmiştir. 50 meme kanserli hastada, BRCA1 geni 185delAG (rs386833395) ve 5382insC (rs397507246) mutasyonları ile BRCA2 geni 6174delT (rs80359550) mutasyonu analiz edilmiştir. Bu çalışmaya dahil edilen meme kanserli hastaların hiçbirinde bu üç mutasyona da rastlanmamıştır. Sonuç: Sonuçlarımız, BRCA1 geni 185delAG ve 5382insC mutasyonları ile BRCA2 geni 6174delT mutasyonunun, Türk meme kanserli hastalarda yaygın olmadığını göstermiştir. Türk populasyonunda...

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Section: Discussionsupporting

confidence: 78%

Section: Discussionmentioning

confidence: 99%

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Meme Kanserli̇ Hastalarda Brca1 Ve Brca2 Gen Mutasyonlarinin Değerlendi̇ri̇lmesi̇

Karakuş¹,

Kara²,

Yiğit³

et al. 2017

Cumhuriyet Medical Journal

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“…In spite of the high incidence of breast cancer in Turkey which was reported to be 41.6 per 100.000 (Health Statistics Yearbook, 2010, The Ministry of Health of Turkey), no mutational hotspots have been found so far, in BRCA1 and BRCA2 analyses of a total of 385 Turkish breast cancer and ovarian cancer patients (Balci et al, 1999;Ozdag et al, 2000;Yazici et al, 2000;, Manguoglu et al, 2003Guran et al, 2005;Egeli et al, 2006). CHEK2 (cell-cycle checkpoint kinase) gene is a strong candidate gene for a low risk breast cancer susceptibility on chromosome 22q12.1 (Bartek et al, 2001;Einarsdottir et al, 2006).…”

Section: Identification Of a Novel Brca2 And Chek2 A-c-g-c Haplotype mentioning

confidence: 99%

Identification of a Novel BRCA2 and CHEK2 A-C-G-C Haplotype in Turkish Patients Affected with Breast Cancer

Haytural

Yalçınkaya²,

Akan³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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Background: Many breast cancers are caused by certain rare and familial mutations in the high or moderate penetrance genes BRCA1, BRCA2 and CHEK2. The aim of this study was to examine the allele and genotype frequencies of seven mutations in BRCA1, BRCA2 and CHEK2 genes in breast cancer patients and to investigate their isolated and combined associations with breast cancer risk. Methods: We genotyped seven mutations in BRCA1, BRCA2 and CHEK2 genes and then analyzed single variations and haplotype associations in 106 breast cancer patients and 80 healthy controls. Results: We found significant associations in the analyses of CHEK2-1100delC (p=0.001) and BRCA1-5382insC (p=0.021) mutations in breast cancer patients compared to controls. The highest risk was observed among breast cancer patients carrying both CHEK2-1100delC and BRCA2-Met784Val mutations (OR=0.093; 95%CI 0.021-0.423; p=0.001). We identified one previously undescribed BRCA2 and a CHEK2 four-marker haplotype of A-C-G-C which was overrepresented (χ 2 =7.655; p=0.0057) in the patient group compared to controls. Conclusion: In this study, we identified a previously undescribed BRCA2 and CHEK2 A-C-G-C haplotype in association with the breast cancer in our population. Our results further suggest that the CHEK2-1100delC mutation in combination with BRCA2-Met784Val may lead to an unexpected high risk which needs to be confirmed in larger cohorts in order to better understand their role in the development and prognosis of breast cancer.

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“…Recently, it has been speculated that there might be a relationship between POI and BRCA1 and BRCA2 gene mutations (5). Although BRCA1 and BRCA2 genes have been analyzed in several studies in Turkish population, these studies only analyzed the relationships of BRCA1 and BRCA2 gene variations and breast cancer (7)(8)(9). Next-generation sequencing is a valuable tool that analyzes up to gigabases of DNA reads at a high speed and with a low cost per base.…”

Section: Introductionmentioning

confidence: 99%

BRCA1 and BRCA2 sequence variations detected with next-generation sequencing in patients with premature ovarian insufficiency

Yılmaz¹,

Karagin²,

Terzi³

et al. 2016

J Turkish German Gynecol Assoc

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Germline mutations of BRCA1 and BRCA2 genes in Turkish breast, ovarian, and prostate cancer patients

Cited by 23 publications

References 38 publications

Meme Kanserli̇ Hastalarda Brca1 Ve Brca2 Gen Mutasyonlarinin Değerlendi̇ri̇lmesi̇

Meme Kanserli̇ Hastalarda Brca1 Ve Brca2 Gen Mutasyonlarinin Değerlendi̇ri̇lmesi̇

Identification of a Novel BRCA2 and CHEK2 A-C-G-C Haplotype in Turkish Patients Affected with Breast Cancer

BRCA1 and BRCA2 sequence variations detected with next-generation sequencing in patients with premature ovarian insufficiency

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