High frequency of BRCA1 5382insC mutation in Russian breast cancer patients

Sokolenko, Anna P.; Mitiushkina, Natalia V.; Buslov, Konstantin G.; Bit-Sava, E.M.; Iyevleva, Aglaya G.; Chekmariova, Elena V.; Kuligina, Ekatherina Sh.; Ulibina, Yulia M.; Rozanov, Maxim E.; Suspitsin, Evgeny N.; Matsko, Dmitry E.; Chagunava, Oleg L.; Trofimov, Trofimov D.Yu.; Devilee, Peter; Cornelisse, Cees J.; Togo, Alexandr V.; Семиглазов, Владимир; Imyanitov, Evgeny N.

doi:10.1016/j.ejca.2006.01.050

Cited by 72 publications

(49 citation statements)

References 21 publications

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“…nhgri.nih.gov/bic/). In several populations, the spectrum of mutations is rather limited, reflecting a single or a limited number of 'founder mutation(s)': the Dutch, 1 Icelandic, 2 the Polish, 3 Russian, 4 and the Norwegian 5 populations. Notably, among Ashkenazi Jews (ie, Jews of east European ancestry), three mutations in BRCA1 (185delAG, 5382InsC) and BRCA2 (6174delT) occur frequently.…”

Section: Introductionmentioning

confidence: 99%

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

et al. 2012

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The 185delAG* BRCA1 mutation is encountered primarily in Jewish Ashkenazi and Iraqi individuals, and sporadically in non-Jews. Previous studies estimated that this is a founder mutation in Jewish mutation carriers that arose before the dispersion of Jews in the Diaspora B2500 years ago. The aim of this study was to assess the haplotype in ethnically diverse 185delAG* BRCA1 mutation carriers, and to estimate the age at which the mutation arose. Ethnically diverse Jewish and non-Jewish 185delAG*BRCA1 mutation carriers and their relatives were genotyped using 15 microsatellite markers and three SNPs spanning 12.5 MB, encompassing the BRCA1 gene locus. Estimation of mutation age was based on a subset of 11 markers spanning a region of B5 MB, using a previously developed algorithm applying the maximum likelihood method. Overall, 188 participants (154 carriers and 34 noncarriers) from 115 families were included: Ashkenazi, Iraq, Kuchin-Indians, Syria, Turkey, Iran, Tunisia, Bulgaria, non-Jewish English, non-Jewish Malaysian, and Hispanics. Haplotype analysis indicated that the 185delAG mutation arose 750-1500 years ago. In Ashkenazim, it is a founder mutation that arose 61 generations ago, and with a small group of founder mutations was introduced into the Hispanic population (conversos) B650 years ago, and into the Iraqi-Jewish community B450 years ago. The 185delAG mutation in the non-Jewish populations in Malaysia and the UK arose at least twice independently. We conclude that the 185delAG* BRCA1 mutation resides on a common haplotype among Ashkenazi Jews, and arose about 61 generations ago and arose independently at least twice in non-Jews.

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Section: Introductionmentioning

confidence: 99%

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

et al. 2012

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“…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] .…”

Section: Discussionmentioning

confidence: 99%

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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“…Founder mutations in BRCA1 gene have been recently described in Eastern Baltic Sea region, with variable distribution in Baltic (Latvian [1] and Lithuanian [2]) and Slavic (Polish [3], Belorussian [4], Russian [5]) populations, accounting for 80-90% of all mutations. However, data about its incidence in Lithuania are inconclusive and based on one study where only three mutations were tested in BRCA1 gene [2].…”

Section: Introductionmentioning

confidence: 99%

Novel and common BRCA1 mutations in familial breast/ovarian cancer patients from Lithuania

Janavičius

Pepalytė

Kučinskas

2008

Breast Cancer Res Treat

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HAL is a multi-disciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad, or from public or private research centers. L'archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des établissements d'enseignement et de recherche français ou étrangers, des laboratoires publics ou privés. Novel and common BRCA1 mutations in familial breast/ovarian cancer patients from LithuaniaRamūnas Janavičius, Ingrida Pepalytė, Vaidutis Kučinskas To cite this version:Ramūnas Janavičius, Ingrida Pepalytė, Vaidutis Kučinskas. Novel and common BRCA1 mutations in familial breast/ovarian cancer patients from Lithuania.

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High frequency of BRCA1 5382insC mutation in Russian breast cancer patients

Cited by 72 publications

References 21 publications

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

Meme Kanserli̇ Hastalarda Brca1 Ve Brca2 Gen Mutasyonlarinin Değerlendi̇ri̇lmesi̇

Novel and common BRCA1 mutations in familial breast/ovarian cancer patients from Lithuania

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