BRCA1 mutations in women with familial or early-onset breast cancer and BRCA2 mutations in familial cancer in Estonia

Hereditary Cancer in Clinical Practice

Volumn 8, Issue 1, 2010, Pages

  Tamboom, Kristiina ^a,b   Kaasik, Krista ^c,f   Aršavskaja, Jelena ^a   Tekkel, Mare ^a   Lilleorg, Aili ^a,b   Padrik, Peeter ^e   Metspalu, Andres ^c,d   Veidebaum, Toomas ^a  

^a NATIONAL INSTITUTE FOR HEALTH DEVELOPMENT   (Estonia)

^b North Estonia Medical Centre   (Estonia)

^c UNIVERSITY OF TARTU   (Estonia)

^d UNIVERSITY OF TARTU   (Estonia)

^e TARTU UNIVERSITY HOSPITAL   (Estonia)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; ARTICLE; BREAST CANCER; CASE STUDY; CONTROLLED STUDY; DNA SEQUENCE; ESTONIA; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HETERODUPLEX ANALYSIS; HUMAN; INTRON; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; OVARY CANCER; POLYMERASE CHAIN REACTION; QUESTIONNAIRE; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 79551614382     PISSN: 17312302     EISSN: 18974287     Source Type: Journal    
DOI: 10.1186/1897-4287-8-4     Document Type: Article

References (21)

1. Cancer Incidence in Estonia 2000. 2003, Tallinn: North-Estonian Regional Hospital Foundation.
2. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King M-C. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990, 250:1684-1689. 10.1126/science.2270482, 2270482.
3. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994, 266(5182):66-71. 10.1126/science.7545954, 7545954.
4. Couch FJ. Genetic epidemiology of BRCA1. Cancer Biol Ther 2004, 3(6):509-14.
5. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995, 21-28;378(6559):789-92.
6. Gayther SA, Mangion J, Russell P, Seal S, Barfoot R, Ponder BA, Stratton MR, Easton D. Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat Genet 1997, 15(1):103-5. 10.1038/ng0197-103, 8988179.
7. Allen RC, Graves G, Budowle B. Polymerase chain reaction amplification products separated on rehydratable polyacrylamide gels and stained with silver. Biotechniques 1989, 7(7):736-44. 10.1038/nbt0789-736, 2483661.
8. Bonadona V, Sinilnikova OM, Chopin S, Antoniou AC, Mignotte H, Mathevet P, Bremond A, Martin A, Bobin JY, Romestaing P, Raudrant D, Rudigoz RC, Leone M, Chauvin F, Easton DF, Lenoir GM, Lasset C. Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: results from a prospective population-based study in France. Genes Chromosomes Cancer 2005, 43(4):404-13. 10.1002/gcc.20199, 15887246.
9. Loman N, Johannsson O, Kristoffersson U, Olsson H, Borg A. Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. J Natl Cancer Inst 2001, 93(16):1215-23. 10.1093/jnci/93.16.1215, 11504767.
10. Tikhomirova L, Sinicka O, Smite D, Eglitis J, Hodgson SV, Stengrevics A. High prevalence of two BRCA1 mutations, 4154delA and 5382insC, in Latvia. Fam Cancer 2005, 4(2):77-84. 10.1007/s10689-004-2758-3, 15951956.
11. Sokolenko AP, Rozanov ME, Mitiushkina NV, Sherina NY, Iyevleva AG, Chekmariova EV, Buslov KG, Shilov ES, Togo AV, Bit-Sava EM, Voskresenskiy DA, Chagunava OL, Devilee P, Cornelisse C, Semiglazov VF, Imyanitov EN. Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia. Fam Cancer 2007, 6(3):281-6. 10.1007/s10689-007-9120-5, 17333477.
12. Neuhausen SL, Mazoyer S, Friedman L, Stratton M, Offit K, Caligo A, Tomlinson G, Cannon-Albright L, Bishop T, Kelsell D, Solomon E, Webe B, Couc F, Struewing J, Tonin P, Durocher F, Narod S, Skolnick MH, Lenoir G, Serova O, Ponder B, Stoppa-Lyonnet D, Easton D, King MC, Goldgar DE. Haplotype and Phenotype Analysis of Six Recurrent BRCA1 Mutations in 61 Families: Results of an International Study. Am J Hum Genet 1996, 58:271-280. 1914544, 8571953.
13. Szabo C, King MC. Population Genetics of BRCA1 and BRCA2. Am J Hum Genet 1997, 60:1013-1020. 1712447, 9150148.
14. Loginova AN, Pospekhova NI, Lyubchenko LN, et al. Spectrum of mutations in BRCA1 gene in hereditary forms of breast and ovarian cancer in Russian families. Bull Exp Biol Med 2003, 136:276-8. 10.1023/B:BEBM.0000008982.21806.9b, 14666193.
15. Gorski B, Byrski T, Huzarski T, Jakubowska A, Menkiszak J, Gronwald J, Pluzańska A, Bebenek M, Fischer-Maliszewska L, Grzybowska E, Narod SA, Lubiński J. Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am J Hum Genet 2000, 66:1963-8. 10.1086/302922, 1378051, 10788334.
16. Sarantaus L, Huusko P, Eerola H, Launonen V, Vehmanen P, Rapakko K, Gillanders E, Syrjäkoski K, Kainu T, Vahteristo P, Krahe R, Pääkkönen K, Hartikainen J, Blomqvist C, Löppönen T, Holli K, Ryynänen M, Bützow R, Borg A, Wasteson Arver B, Holmberg E, Mannermaa A, Kere J, Kallioniemi OP, Winqvist R, Nevanlinna H. Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. Eur J Hum Genet 2000, 8(10):757-63. 10.1038/sj.ejhg.5200529, 11039575.
17. Jasinska A, Krzyzosiak WJ. Prevalence of BRCA1 founder mutations in western Poland. Hum Mutat 2001, 17(1):75. 10.1002/1098-1004(2001)17:1<75::AID-HUMU15>3.0.CO;2-9, 11139251.
18. Ottini L, D'Amico C, Noviello C, Lauro S, Lalle M, Fornarini G, Colantuoni OA, Pizzi C, Cortesi E, Carlini S, Guadagni F, Bianco AR, Frati L, Contegiacomo A, Mariani-Costantini R. BRCA1 and BRCA2 mutations in central and southern Italian Patients. Breast Cancer Res 2000, 2:307-310. 10.1186/bcr72, 13918, 11056688.
19. Durocher F, Shattuck-Eidens D, McClure M, Labrie F, Skolnick MH, Goldgar DE, Simard J. Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations. Hum Mol Genet 1996, 5(6):835-42. 10.1093/hmg/5.6.835, 8776600.
20. Deffenbaugh AM, Frank TS, Hoffman M, Cannon-Albright L, Neuhausen SL. Characterization of common BRCA1 and BRCA2 variants. Genet Test 2002, 6(2):119-21. 10.1089/10906570260199375, 12215251.
21. Phelan CM, Šapic V, Tice B, Favis R, Kwan E, Barany F, Manoukian S, Radice P, Luijt RB, M van Nesselrooij BP, Chenevix-Trench G, kConFab, Caldes T, de La Hoya M, Lindquist S, Tavtigian SV, Goldgar D, Borg A, Narod SA, Monteiro ANA. Classification of BRCA1 missense variants of unknown clinical significance. J Med Genet 2005, 42:138-146. 10.1136/jmg.2004.024711, 1735988, 15689452.