Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia

Anna P. Sokolenko1, Maxim E. Rozanov1, Natalia V. Mitiushkina1, Natalia Sherina1, Aglaya G. Iyevleva1, Elena V. Chekmariova1, Konstantin G. Buslov1, E. S. Shilov1, Alexandr V. Togo1, Е.М. Бит-Сава1, Dmitry A. Voskresenskiy1, Oleg L. Chagunava2, Peter Devilee3, Cees J. Cornelisse3, Владимир Семиглазов1, Evgeny N. Imyanitov1
1N.N. Petrov Institute of Oncology, Pesochny-2, St.-Petersburg, 197758, Russia
2Center of Mammology, St.-Petersburg, Russia
3Leiden University Medical Center, Leiden, The Netherlands.

Tóm tắt

Từ khóa


Tài liệu tham khảo

Neuhausen SL (2000) Founder populations and their uses for breast cancer genetics. Breast Cancer Res 2:77–81

Nathanson KL, Wooster R, Weber BL (2001) Breast cancer genetics: what we know and what we need. Nat Med 7:552–556

Imyanitov EN, Hanson KP (2004) Mechanisms of breast cancer. Drug Discov Today Dis Mech 1:235–245

Narod SA, Foulkes WD (2004) BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 4:665–676

Dong X, Wang L, Taniguchi K et al (2003) Mutations in CHEK2 associated with prostate cancer risk. Am J Hum Genet 72:270–280

CHEK2 Breast Cancer Case-Control Consortium. (2004) CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 74:1175–1182

Bogdanova N, Enssen-Dubrowinskaja N, Feshchenko S et al (2005) Association of two mutations in the CHEK2 gene with breast cancer. Int J Cancer 116:263–266

Gorski B, Cybulski C, Huzarski T et al (2005) Breast cancer predisposing alleles in Poland. Breast Cancer Res Treat 92:19–24

Steffen J, Varon R, Mosor M et al (2004) Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. Int J Cancer 111:67–71

Buslov KG, Iyevleva AG, Chekmariova EV et al (2005) NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia. Int J Cancer 114:585–589

Grzybowska E, Zientek H, Jasinska A et al (2000) High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer. Hum Mutat 16:482–490

Iau PT, Macmillan RD, Blamey RW (2001) Germ line mutations associated with breast cancer susceptibility. Eur J Cancer 37:300–321

Sokolenko AP, Mitiushkina NV, Buslov KG et al (2006) High frequency of BRCA1 5382insC mutation in Russian breast cancer patients. Eur J Cancer 42:1380–1384

Chekmariova EV, Sokolenko AP, Buslov KG et al CHEK2 1100delC mutation is frequent among Russian breast cancer patients. Breast Cancer Res Treat 2006 (in press)

Oszurek O, Gorski B, Gronwald J et al (2001) Founder mutations in the BRCA1 gene in west Belarusian breast-ovarian cancer families. Clin Genet 60:470–471

Gayther SA, Harrington P, Russell P et al (1997) Frequently occurring germ-line mutations of the BRCA1 gene in ovarian cancer families from Russia. Am J Hum Genet 60:1239–1242

Gronwald J, Elsakov P, Gorski B, Lubinski J (2005) High incidence of 4153delA BRCA1 gene mutations in Lithuanian breast- and breast-ovarian cancer families. Breast Cancer Res Treat 94:111–113

Tikhomirova L, Sinicka O, Smite D et al (2005) High prevalence of two BRCA1 mutations, 4154delA and 5382insC, in Latvia. Fam Cancer 4:77–84

Gorski B, Byrski T, Huzarski T et al (2000) Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am J Hum Genet 66:1963–1968

Menkiszak J, Gronwald J, Gorski B et al (2003) Hereditary ovarian cancer in Poland. Int J Cancer 106:942–945

Oldenburg RA, Kroeze-Jansema K, Kraan J et al (2003) The CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families. Cancer Res 63:8153–8157

Satagopan JM, Offit K, Foulkes W et al (2001) The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. Cancer Epidemiol Biomarkers Prev 10:467–473