Mutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech Republic

Medical Principles and Practice

Volumn 12, Issue 1, 2003, Pages 23-29

  Pohlreich, Petr ^a   Stribrna J ^a   Kleibl, Z ^a   Zikan M ^a   Kalbacova R ^b   Petruzelka L ^a   Konopasek B ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b FAKULTNÍ THOMAYEROVA NEMOCNICE   (Czech Republic)

Author keywords

BRCA1; Germ line mutation; Hereditary breast and ovarian cancer; Protein truncation test

Indexed keywords

BRCA1 PROTEIN; COMPLEMENTARY DNA;

ADULT; ARTICLE; BREAST CARCINOMA; CANCER PATIENT; CANCER RISK; CONTROLLED STUDY; CZECH REPUBLIC; EXON; FAMILIAL CANCER; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; ONCOGENE; OVARY CARCINOMA; POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA TRANSLATION;

ADULT; AGE OF ONSET; BREAST NEOPLASMS; CZECH REPUBLIC; FEMALE; GENES, BRCA1; GERM-LINE MUTATION; HUMANS; MIDDLE AGED; OVARIAN NEOPLASMS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0037261176     PISSN: 10117571     EISSN: None     Source Type: Journal    
DOI: 10.1159/000068163     Document Type: Article

References (24)

1. Couch FJ, Weber BL: Breast cancer; in Vogelstein B, Kinzler KW (eds): The Genetic Basis of Human Cancer. New York, McGraw-Hill, 1998, pp 537-563.
2. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC: Linkage of early onset familial breast cancer to chromosome 17q21. Science 1990;250:1684-1689.
3. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harsham K, Tavtigian S, et al: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994;266:66-71.
4. Smith TM, Lee MK, Szabo CI, Jerome N, McEuen M, Taylor M, Hood L, King MC: Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res 1996;6:1929-1049.
5. Easton DF, Bishop DT, Ford D, Crockford GP, Breast Cancer Linkage Consortium: Genetic linkage analysis in familial breast and ovarian cancer: Results from 214 families. Am J Hum Genet 1993;52:678-701.
6. Szabo CI, King MC: Population genetics of BRCA1 and BRCA2. Am J Hum Genet 1997;60:1013-1020.
7. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE, Breast Cancer Linkage Consortium: Risk of cancer in BRCA1-mutation carriers. Lancet 1994;343:692-695.
8. Hogervorst FBL, Cornelis RS, Bout M, van Vliet M, Oosterwijk JC, Olmer R, Bakker B, Klijn JG, Vasen HF, Meijers-Heijboer H, Menko FH, Cornelisse CJ, den Dunnen JT, Devilee P, van Ommen GJ: Rapid detection of BRCA1 mutations by the protein truncation test. Nat Genet 1995;10:208-212.
9. Robson M, Dabney MK, Rosenthal G, Ludwig S, Seltzer MH, Gilewski T, Haas B, Osborne M, Norton L, Gilbert F, Offit K: Prevalence of recurring BRCA mutations among Ashkenazi Jewish women with breast cancer. Genet Test 1997;1:47-51.
10. Wagner TM, Möslinger RA, Muhr D, Langbauer G, Hirtenlehner K, Concin H, Doeller W, Haid A, Lang AH, Mayer P, Ropp E, Kubista E, Amirimani B, Helbich T, Becherer A, Scheiner O, Breiteneder H, Borg A, Devilee P, Oefner P, Zielinski C: BRCA1-related breast cancer in Austrian breast and ovarian cancer families: Specific BRCA1 mutations and pathological characteristics. Int J Cancer 1998;77:354-360.
11. Van der Looij M, Szabo C, Besznyak I, Liszka G, Csokay B, Pulay T, Toth J, Devilee P, King MC, Olah E: Prevalence of founder BRCA1 and BRCA2 mutations amongst breast and ovarian cancer patients in Hungary. Int J Cancer 2000;86:737-740.
12. Górski B, Byrski T, Huzarski T, Jakubowska A, Menkiszak J, Gronwald J, Plužaňska A, Bebenek M, Fischer-Maliszewska L, Grzybowska E, Narod SA, Lubiňski J: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am J Hum Genet 2000;66:1963-1968.
13. Gayther SA, Harrington P, Russell P, Kharkevich G, Garkavtseva RF, Ponder BA: Frequently occurring germ-line mutations of the BRCA1 gene in ovarian cancer families from Russia. Am J Hum Genet 1997;60:1239-1242.
14. Peelen T, van Vliet M, Petrij-Bosch A, Mieremet R, Szabo C, von den Ouweland AMW, et al: High proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am J Hum Genet 1997;60:1041-1049.
15. Stoppa-Lyonnet D, Laurent-Puig P, Essioux L, Pagès S, Ithier G, Ligot L, Fourquet A, Salmon RJ, Clough KB, Pouillart P, the Institut Curie Breast Cancer Group, Bonaïti-Pellié C, Thomas G: BRCA1 sequence variations in 160 individuals referred to a Breast/Ovarian Family Cancer Clinic. Am J Hum Genet 1997;60:1021-1030.
16. Gayther SA, Warren W, Mazoyer S, Russell PA, Harrington PA, Chiano M, Seal S, Hamoudi R, Rensburg EJ, Dunning AM, Love R, Evans G, Easton D, Clayton D, Strattin MR, Ponder BA: Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet 1995;11:428-433.
17. Håkansson S, Johansson O, Johansson U, Sellberg G, Loman N, Gerdes AM, Holmberg E, Dahl N, Pandis N, Kristoffersson U, Olsson H, Borg Å: Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. Am J Hum Genet 1997;60:1068-1078.
18. Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, Jack E, Vesprini DJ, Kuperstein G, Abrahamson JL, Fan I, Wong B, Narod SA: Prevalence and penetrance of germ-line BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 2001;68:700-710.
19. Yazici H, Bitisik O, Akisik E, Cabioglu N, Saip P, Muslumanoglu M, Glendon G, Bengisu E, Ozbilen S, Dincer M, Turkmen S, Andrulis IL, Dalay N, Ozcelik H: BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients. Br J Cancer 2000;83:737-742.
20. Chomczynski P, Sacchi N: Single step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987;162:156-159.
21. Beaudet AL, Tsui LC: A suggested nomenclature for designating mutations. Hum Mutat 1993;2:245-248.
22. Serova O, Montagna M, Torchard D, Narod SA, Tonin P, Sylla B, Lynch HT, Feunteun J, Lenoir GM: A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. Am J Hum Genet 1996;58:42-51.
23. Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, et al: BRCA1 sequence analysis in women at high risk for susceptibility mutations. JAMA 1997;278:1242-1250.
24. Szabo C, Masiello A, Ryan JF, Brody LC: The breast cancer information core: Database design, structure, and scope. Hum Mutat 2000;16:123-131.