BRCA1 4153delA founder mutation in Russian ovarian cancer patients

Krylova, Nadezhda Yu; Lobeiko, Oksana S; Sokolenko, Anna P.; Iyevleva, Aglaya G.; Rozanov, Maxim E.; Mitiushkina, Natalia V.; Gergova, Madina M.; Porhanova, Tatiana V; Urmancheyeva, Adel F; Togo, Alexandr V.; Imyanitov, Evgeny N.

doi:10.1186/1897-4287-4-4-193

Cited by 13 publications

(6 citation statements)

References 14 publications

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“…For high risk families of this origin, the rates of the predominant mutations in BRCA1 in the present study are 1.1% (C61G) and 0.7% (4153delA). These data are in line with data reported on non Jewish high risk families from Russia [16] Poland [14,15] and the Baltic republics [17,18]. Thus, for these unique non Jewish high risk families, these two mutations should be offered in the course of oncogenetics counseling and testing in Israel, prior to offering full mutational analysis of both genes.…”

Section: Discussionsupporting

confidence: 87%

“…A sizeable portion of these immigrants (estimated at 50%) are of Russian non Jewish origin. Two recurring mutations in BRCA1 in Russian and Baltic region high risk families have been reported: 5382InsC and 4153delA in BRCA1 [14][15][16][17][18]. In addition, the C61G is a mutation frequently detected in non Jewish Polish high risk families [14,15] and rarely in non Ashkenazi Jews [19].…”

Section: Introductionmentioning

confidence: 95%

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Recurrent germline mutations in BRCA1 and BRCA2 genes in high risk families in Israel

Laitman

Simeonov

Herskovitz

et al. 2012

Breast Cancer Res Treat

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The spectrum of germline mutations among Jewish non Ashkenazi high risk breast/ovarian cancer families includes a few predominant mutations in BRCA1 (185delAG and Tyr978X) and BRCA2 (8765delAG). A few additional recurring mutations [A1708E, 981delAT, C61G (BRCA1) R2336P, and IVS2 + 1G > A (BRCA2)] have been reported in Jewish non Ashkenazi families. The 4153delA*BRCA1 C61G*BRCA1 and the 4075delGT*BRCA2 has been reported to recur in Russian/Polish non Jews and Ashkenazim, respectively. The rate of these recurring mutations has not been reported in Israeli high risk families. Genotyping for these recurring mutations by restriction enzyme digest and sequencing method was applied to high risk, predominantly cancer affected, unrelated Israeli individuals of Ashkenazi (n = 827), non Ashkenazi (n = 2,777), non Jewish Caucasians (n = 193), and 395 of mixed ethnicity. Jewish participants included 827 Ashkenazi, 804 Balkans, 847 North Africans, 234 Yemenites, and 892 Asians (Iraq and Iran). Age at diagnosis of breast cancer (median ± SD) (n = 2,484) was 47.2 ± 9.6 for all women participants. Males (n = 236) were also included, of whom 24 had breast cancer and 35 had pancreatic cancer. Overall, 8/282 (2.8%) of the Balkan cases carried the BRCA1*A1708E mutation, 4/180 (2.2%) the R2336P mutation, and 0/270 the IVS2 + 1G > A BRCA2 mutations, respectively. Of North Africans, 7/264 (2.65%) carried the BRCA1*981delAT mutation. The BRCA1*C61G mutation was detected in 3/269 Ashkenazi, non Ashkenazi, and non Jewish Russians; the BRCA1*Tyr978X mutation was detected in 23/3220 individuals of non Ashkenazi origin, exclusively of Asian ethnicity (23/892, 2.6% of the Asians tested). The BRCA1*4153delA mutation was noted in 2/285 non Jewish Caucasians, and none of the Ashkenazim (n = 500) carried the BRCA2*4075delGT mutation. Jewish high risk families of North African, Asian, and Balkan descent should be screened for the 981delAT, Tyr978X, A1708E BRCA1, and the R2336P BRCA2 mutations, respectively.

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Section: Discussionsupporting

confidence: 87%

Section: Introductionmentioning

confidence: 95%

Recurrent germline mutations in BRCA1 and BRCA2 genes in high risk families in Israel

Laitman

Simeonov

Herskovitz

et al. 2012

Breast Cancer Res Treat

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“…The most frequently observed is BRCA1 c.4035delA mutation, which is more frequent in families of Baltic (Lithuanian) origin rather than Slavic [ 53 , 54 , 161 ], and was detected in 16.3% (7/43) of unrelated ovarian cancer patients unselected for family history in one study [ 159 ]. Among BRCA1 positive patients in a single population, this particular mutation has the highest proportion identified to date (53%), where in neighbouring countries (Latvia, Poland, Belarus and Russia) it accounts for around 40% [Tihomirova, personal communication], 10% [ 40 ], 9% [ 49 ] and 9% [ 41 ] respectively of all BRCA1 mutations.…”

Section: Founder Brca1 and Brca2 mentioning

confidence: 99%

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control

2010

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Detection of mutations in hereditary breast and ovarian cancer-related BRCA1 and BRCA2 genes is an effective method of cancer prevention and early detection. Different ethnic and geographical regions have different BRCA1 and BRCA2 mutation spectrum and prevalence. Along with the emerging targeted therapy, demand and uptake for rapid BRCA1/2 mutations testing will increase in a near future. However, current patients selection and genetic testing strategies in most countries impose significant lag in this practice. The knowledge of the genetic structure of particular populations is important for the developing of effective screening protocol and may provide more efficient approach for the individualization of genetic testing. Elucidating of founder effect in BRCA1/2 genes can have an impact on the management of hereditary cancer families on a national and international healthcare system level, making genetic testing more affordable and cost-effective. The purpose of this review is to summarize current evidence about the BRCA1/2 founder mutations diversity in European populations.

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“…The BRCA1 4153delA frequency in Russian patients, however, is an order of magnitude lower than that of the BRCA1 5382insC mutation, which complicates the study of the BRCA1 4153delA epidemiology. Polish scientists had reported on the preferential association of BRCA1 4153delA with OC [ 14 , 32 ]; however, their observations could not be confirmed in later studies [ 21 ].…”

Section: Epidemiology Of the Brca1 Brcmentioning

confidence: 99%

Hereditary Breast-Ovarian Cancer Syndrome in Russia

et al. 2010

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Hereditary breast-ovarian cancer syndrome contributes to as much as 5–7% of breast cancer (BC) and 10–15% of ovarian cancer (OC) incidence. Mutations in the “canonical” genesBRCA1andBRCA2occur in 20–30% of affected pedigrees. In addition toBRCA1andBRCA2 mutations, germ-line lesions in theCHEK2,NBS1, andPALB2genes also contribute to familial BC clustering. The epidemiology of hereditary breast-ovarian cancer in Russia has some specific features. The impact of the “founder” effect is surprisingly remarkable: a single mutation,BRCA15382insC, accounts for the vast majority ofBRCA1defects across the country. In addition, there are two other recurrentBRCA1alleles:BRCA14153delA andBRCA1185delAG. BesidesBRCA1, in Russia breast cancer is often caused by germ-line alterations in theCHEK2andNBS1genes. In contrast toBRCA1andBRCA2, theCHEK2andNBS1heterozygosity does not significantly increase the OC risk. Several Russian breast cancer clinics recently started to investigate the efficacy of cisplatin in the therapy ofBRCA1-related cancers; initial results show a unique sensitivity ofBRCA1-associated tumours to this compound.

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BRCA1 4153delA founder mutation in Russian ovarian cancer patients

Cited by 13 publications

References 14 publications

Recurrent germline mutations in BRCA1 and BRCA2 genes in high risk families in Israel

Recurrent germline mutations in BRCA1 and BRCA2 genes in high risk families in Israel

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control

Hereditary Breast-Ovarian Cancer Syndrome in Russia

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