Identification of point mutations and large rearrangements in the BRCA1 gene in 667 Turkish unselected ovarian cancer patients

Aktaş, Dilek; Gültekin, M.; Kabacam, Serkan; Alikaşifoğlu, Mehmet; Turan, Ahmet Taner; Tulunay, Gökhan; Köse, Mehmet; Ortaç, Fırat; Yüce, K.; Tunçbılek, Ergül; Ayhan, Ali̇

doi:10.1016/j.ygyno.2010.05.018

Cited by 13 publications

(11 citation statements)

References 22 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: 77%

“…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: 77%

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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“…Most (25/27) rearrangements were found in patients with hereditary ovarian cancer (7). The rearrangement ratio (40.9%) given by Aktaş et al (7) for patients with ovarian cancer who had family histories was very high according to the international literature (4,(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17). The second study investigated the rearrangement ratio in patients with hereditary breast cancer, but with a small sample size.…”

Section: Discussionmentioning

confidence: 98%

Frequency of Rearrangements Versus Small Indels Mutations in BRCA1 and BRCA2 Genes in Turkish Patients with High Risk Breast and Ovarian Cancer

Yazıcı

Kilic

Akdeniz

et al. 2018

Eur J Breast Health

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IntroductionBreast cancer is the most common cancer among women worldwide and causes significant morbidity and mortality (1). According to the 2009 statistics of the Turkish Statistical Institute (TUIK), the leading cancer and the seventh-most-frequent cancer among women were breast and ovarian carcinoma, respectively. Among Turkish women, the incidence of breast cancer and ovarian carcinoma is 23% and 3.9%, respectively. Therefore, breast and ovarian carcinoma are important health problems for Turkish society. Furthermore, consanguineous marriages, especially among first cousins, are quite common in Turkey. This may lead to higher cancer risks, especially in families with cancer histories. It is very important to detect hereditary cancer risk using genetic testing for individuals in high-risk families as well as genetic testing, if applied correctly. Hence it is very important to determine the limits and content of genetic tests.Several factors increase the risk of breast cancer such as family history, reproductive history, diet, hormone use, radiation exposure, obesity, sedentary lifestyle, lack of breast-feeding, and exogenous hormone replacement therapy (1). Among these, a family history with breast and ovarian cancer in several generations is present in about 15-20% of all cases (2). Germline mutations of two major tumor suppressor genes, BRCA1 and BRCA2, are inherited in an autosomal dominant pattern and have links to breast and ovarian cancer (3). These two mutated genes increase the risk of breast cancer by 87% and 44% for ovarian cancer over the lifetime of female patients (4, 5). BRCA1 and BRCA2 participate in cellular functions such as cell growth, cell division, and genetic instability. Eur J Breast Health 2018; 14: 93-99 DOI: 10.5152/ejbh.2017.3799 93 ABSTRACT Objective: The current rearrangement ratio of BRCA1 and BRCA2 genes is not known in the Turkish population. Rearrangements are not routinely investigated in many Turkish laboratories. This creates problems and contradictions between clinics. Therefore, the aim of this study was to evaluate the distribution and frequency of rearrangements in BRCA1 and BRCA2 genes in high-risk families and to clarify the limits of BRCA1 and BRCA2 testing in Turkey. Frequency of Rearrangements Versus Materials and Methods:The study included 1809 patients at high risk of breast cancer or ovarian cancer. All patients were investigated for both small indels and rearrangements of BRCA genes using DNA sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis. Results:The overall frequency of rearrangements was 2% (25/1262). The frequency of rearrangements was 1.7% (18/1086) and 4% (9/206) in patients with breast cancer and ovarian cancer, respectively. The frequency of rearrangements was 3.7% (8/215) in patients with triple-negative breast cancer. The rearrangement rate was 7.7% (2/26) in patients with both breast and ovarian cancer. Conclusions:Rearrangements were found with high rates and were strongly associated with bilateral and triple-...

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“…Based on studies of age at diagnosis another research group concluded that the BRCA1 mutation was a strong candidate for screening for early onset breast cancer [26]. Our data revealed that BRCA1-positive women were on average about 10 years younger (38.6 years) than BRCA1-mutation negative women (48.4 years).…”

Section: Discussionmentioning

confidence: 60%

Screening for BRCA1 large genomic rearrangements in female Egyptian hereditary breast cancer patients

Hagag¹,

Shwaireb²,

Coffa³

et al. 2013

East Mediterr Health J

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Approximately 5%-10% of all breast cancers are inherited as the result of germline mutations in the BRCA1 gene. Large genomic rearrangements (LGRs) in BRCA1 have not been well-researched in the Egyptian population. Using multiplex ligation-dependent probe amplification, we showed BRCA1 rearrangements in 4/22 cases (18.2%) of familial breast cancer. No influence of having multiple breast cancer cases within the family was observed in patients diagnosed at < or ≥ 45 years and having BRCA1-positive LGRs. However, focusing on cases with first-and second-degree relatives affected, we observed a significant difference between the percentage of patients with BRCA1-positive versus BRCA1-negative LGRs. Our results provide the first evidence that LGRs in BRCA1 exist in the Egyptian population. Screening for these alterations may be desirable when breast cancer patients are diagnosed at an early age, especially if these cases have first-and second-degree of relatives with breast cancer.

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Identification of point mutations and large rearrangements in the BRCA1 gene in 667 Turkish unselected ovarian cancer patients

Cited by 13 publications

References 22 publications

Meme Kanserli̇ Hastalarda Brca1 Ve Brca2 Gen Mutasyonlarinin Değerlendi̇ri̇lmesi̇

Meme Kanserli̇ Hastalarda Brca1 Ve Brca2 Gen Mutasyonlarinin Değerlendi̇ri̇lmesi̇

Frequency of Rearrangements Versus Small Indels Mutations in BRCA1 and BRCA2 Genes in Turkish Patients with High Risk Breast and Ovarian Cancer

Screening for BRCA1 large genomic rearrangements in female Egyptian hereditary breast cancer patients

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