Mutational analysis of the BRCA1 gene in 30 Czech ovarian cancer patients

Journal of Genetics

Volumn 84, Issue 1, 2005, Pages 63-67

  Zikan, M ^a   Pohlreich, P ^a   Stribrna, J ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

BRCA1 gene; Direct sequencing; Mutational analysis; Ovarian cancer; Protein truncation test

Indexed keywords

COMPLEMENTARY DNA; DNA;

ADULT; ARTICLE; CANCER GENETICS; CANCER PATIENT; CANCER RISK; CLINICAL ARTICLE; CZECH REPUBLIC; DNA SEQUENCE; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; ONCOGENE; OVARY CANCER; POPULATION GENETICS; PROTEIN ANALYSIS; RNA SPLICING;

EID: 19444362989     PISSN: 00221333     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02715891     Document Type: Article

References (27)

1. Apicella C., Andrews L., Hodgson S. V., Fisher S. A., Lewis C. M., Solomon E. et al. 2003 Log odds of carrying an ancestral mutation in BRCA1 or BRCA2 for a defined personal and family history in an Ashkenazi Jewish woman (LAMBDA). Breast Cancer Res. 5, R206-216.
2. Bartonkova H., Foretova L., Helmichova E., Kalabova R., Kleibl Z., Konopasek B. et al. 2003 Doporučené zásady péče o nemocné s nádory prsu a vaječní ků a zdravé osoby se zárodečnými mutacemi genů BRCA1 nebo BRCA2. Klin. Onkol. 16, 28-34.
3. Beaudet A. L.and Tsui L.-C. 1993 A suggested nomenclature for designating mutations. Hum. Mutat. 2, 245-248.
4. Eeles R. and Kadouri L. 1999 BRCA1/2 carriers and endocrine risk modifiers. Endocrine-Related Cancer 6, 521-528.
5. Ford D., Easton D. F., Bishop D. T., Narod S. A. and Goldgar D. E. 1994 Risks of cancer in BRCA1-mutation carriers. Lancet 343, 692-695.
6. Foretova L., Machackova E., Navratilova M., Pavlu H., Hruba M., Lukesova M. and Valik D. 2004 BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic. Hum. Mutat. 23, 397-398.
7. Grzybowska E., Sieminska M., Zientek H., Kalinowska E., Michalska J., Utracka-Hutka B. et al. 2002 Germline mutations in the BRCA1 gene predisposing to breast and ovarian cancers in Upper Silesia population. Acta Biochim. Pol. 49, 351-356.
8. Hall J. M., Lee M. K., Newman B., Morrow J. E., Anderson L. A., Huey B. et al. 1990 Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250, 1684-1689.
9. Hogervorst F. B. L., Cornelis R. S., Bout M., vanVliet M., Oosterwijk J. C., Olmer R. et al. 1995 Rapid detection of BRCA1 mutations by the protein truncation test. Nat. Genet. 10, 208-212.
10. Janatova M., Pohlreich P. and Matous B. 2003 Detection of the most frequent mutations in BRCA1 gene on polyacrylamide gels containing Spreadex Polymer NAB. Neoplasma 50, 246-250.
11. Jancarkova N., Zikan M., Pohlreich P., Freitag P., Matous B. and Zivny J. 2003 Detection and occurrence of BRCA1 gene mutation in patients with carcinoma of the breast and ovary. Cas. Lek. Cesk. 68, 11-16.
12. Machackova E., Foretova L., Navratilova M., Valik D., Claes K. and Messiaen L. 2000 A high occurrence of BRCA1 and BRCA2 mutations among Czech hereditary breast and breast-ovarian cancer families. Cas. Lek. Cesk. 139, 635-637.
13. Machackova E., Damborsky J., Valik D. and Foretova L. 2001 Novel germline BRCA1 and BRCA2 mutations in breast and breast/ovarian cancer families from the Czech Republic. Hum. Mutat. 18, 545.
14. Maquat L. E. 1995 When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1, 453-465.
15. Miki Y., Swensen J., Shattuck-Eidens D., Futreal P. A., Harshman K., Tavtigian S. et al. 1994 A strong candidate for the breast and ovarian cancer susceptibility gene, BRCA1. Science 266, 66-71.
16. Monteiro A. N. A. 2000 BRCA1: exploring the links to transcription. Trends Biochem. Sci. 25, 469-474.
17. Offit K., Gilewski T., McGuire P., Schluger A., Hampel H., Brown K. et al. 1996 Germline BRCA1 185delAG mutation in Jewish women with breast cancer. Lancet 347, 1643-1645.
18. Perkowska M., Brozek I., Wysocka B., Haraldsson K., Sandberg T., Johansson U., Sellberg G. et al. 2003 BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from north-eastern Poland. Hum. Mutat. 21, 553-554.
19. Petrij-Bosch A., Peelen T., van Vliet M., van Eijk R., Olmer R., Drüsedau M. et al. 1997 BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat. Genet. 17, 341-345.
20. Pohlreich P., Stribrna J., Kleibl Z., Zikan M., Kalbacova R., Petruzelka L. and Konopasek B. 2003 Mutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech Republic. Med Princ Pract. 12, 23-29.
21. Puget N., Gad S. and Perrin-Vidoz L. 2002 Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot. Am. J. Hum. Genet. 70, 858-865.
22. Rohlfs E. M., Chung C. H., Yang Q., Skrzynia C., Grody W. W., Graham M. L. and Silverman L. M. 2000 In-frame deletions of BRCA1 may define critical functional domains. Hum. Genet. 107, 385-390.
23. Scully R., Anderson S. F., Chao D. M., Wei W., Ye L., Young R. A. et al. 1997 BRCA1 is a component of the RNA polymerase II holoenzyme. Proc. Natl. Acad. Sci. USA 94, 5605-5610.
24. Serova O., Montagna M., Torchard D., Narod S. A., Tonin P. and Sylla B. 1996 A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. Am. J. Hum. Genet. 58, 42-51.
25. Shattuck-Eidens D., Oliphant A., McClure M., McBride C., Gupte J., Rubano T. et al. 1997 BRCA1 sequence analysis in women at high risk for susceptibility mutations. J. Am. Med. Assoc. 278, 1242-1250.
26. Starita L. M. and Parvin J. D. 2003 The multiple nuclear functions of BRCA1: transcription, ubiquitination and DNA repair. Curr. Opin. Cell Biol. 15, 345-350.
27. Welcsh P. L. and King M. 2001 BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum. Mol. Genet. 10, 705-713.