The 4154delA mutation carriers in the BRCA1 gene share a common ancestry

被引：5

作者：

Ozolina, Silvija ^{[1
]}

Sinicka, Olga ^{[1
]}

Jankevics, Eriks ^{[1
]}

Inashkina, Inna ^{[1
]}

Lubinski, Jan ^{[2
]}

Gorski, Bohdan ^{[2
]}

Gronwald, Jacek ^{[2
]}

Nasedkina, Tatyana ^{[3
]}

Fedorova, Olga ^{[3
]}

Lyubchenko, Ludmila ^{[4
]}

Tihomirova, Laima ^{[1
]}

机构：

[1] Latvian Biomed Res & Study Ctr, LV-1067 Riga, Latvia

[2] Pomeranian Med Univ, Int Hereditary Canc Ctr, Szczecin, Poland

[3] RAS, VA Engelhardt Mol Biol Inst, Moscow 117901, Russia

[4] NN Blochins Russian Canc Res Ctr RAMS, Moscow, Russia

来源：

FAMILIAL CANCER | 2009年 / 8卷 / 01期

关键词：

BRCA1; Mutation; Haplotype; SNP; STR; Alleles; OVARIAN-CANCER FAMILIES; BREAST-CANCER; 5382INSC;

D O I：

10.1007/s10689-008-9224-6

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Uncertainty exists whether the 4154delA mutation of the BRCA1 gene detected in unrelated individuals from Latvia, Poland and Russia is a founder mutation with a common ancestral origin. To trace back this problem we analysed the mutation-associated haplotype of the BRCA1 intragenic SNPs as well as intragenic and nearby STR markers in mutation carriers from the aforementioned populations. The mutation-associated SNP alleles were found to be "T-A-A-A-A-G" for six intragenic SNPs of the BRCA1 gene (IVS8-58delT, 3232A/G, 3667A/G, IVS16-68A/G, IVS16-92A/G, IVS18+66G/A, respectively). The alleles 195, 154, 210 and 181 were found to be associated with the 4154delA mutation for STR markers D17S1325, D17S855, D17S1328 and D17S1320, correspondingly. Further analysis of markers in the 4154delA mutation carriers from all three populations allows us to assert that all analysed mutation carriers share a common ancestry.

引用

页码：1 / 4

页数：4

共 9 条

[1]

Csokay B, 1999, Hum Mutat, V14, P92, DOI 10.1002/(SICI)1098-1004(1999)14:1<92::AID-HUMU23>3.0.CO

[2]

2-2

[3]

Gayther SA, 1997, AM J HUM GENET, V60, P1239

[4] Founder mutations in the BRCA1 gene in polish families with breast-ovarian cancer [J].

Górski, B ;

Byrski, T ;

Huzarski, T ;

Jakubowska, A ;

Menkiszak, J ;

Gronwald, J ;

Pluzanska, A ;

Bebenek, M ;

Fischer-Maliszewska, L ;

Grzybowska, E ;

Narod, SA ;

Lubinski, J .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (06) :1963-1968

[5] High incidence of 4153delA BRCA1 gene mutations in Lithuanian breast- and breast-ovarian cancer families [J].

Gronwald, J ;

Elsakov, P ;

Górski, B ;

Lubinski, J .

BREAST CANCER RESEARCH AND TREATMENT, 2005, 94 (02) :111-113

[6] BRCA1 phosphorylation - Biological consequences [J].

Ouchi, Toru .

CANCER BIOLOGY & THERAPY, 2006, 5 (05) :470-475

[7] High frequency of BRCA1 5382insC mutation in Russian breast cancer patients [J].

Sokolenko, Anna P. ;

Mitiushkina, Natalia V. ;

Buslov, Konstantin G. ;

Bit-Sava, Elena 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, Dmitry Yu. ;

Devilee, Peter ;

Cornelisse, Cees ;

Togo, Alexandr V. ;

Semiglazov, Vladimir F. ;

Imyanitov, Evgeny N. .

EUROPEAN JOURNAL OF CANCER, 2006, 42 (10) :1380-1384

[8] High prevalence of two BRCA1 mutations, 4154delA and 5382insC, in Latvia [J].

Tikhomirova, L ;

Sinicka, O ;

Smite, D ;

Eglitis, J ;

Hodgson, SV ;

Stengrevics, A .

FAMILIAL CANCER, 2005, 4 (02) :77-84

[9]

Venkitaraman AR, 2001, J CELL SCI, V114, P3591

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