Detection and incidence of mutations of BRCA 1 gene in patients with cancer of the breast and ovary;Detekce a výskyt mutací genu BRCA 1 u pacientek s karcinomem prsu a ovaria

Ceska Gynekologie

Volumn 68, Issue 1, 2003, Pages 11-16

  Jancarkova N ^a   Zikan M ^a   Pohlreich, P ^b   Freitag, P ^a   Matous B ^b   Zivny J ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

Author keywords

BRCA 1; BRCA 2; Breast cancer; Genetic testing; Ovarian cancer

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; ARTICLE; BREAST CARCINOMA; CANCER DIAGNOSIS; CANCER EPIDEMIOLOGY; CANCER RISK; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ENVIRONMENTAL FACTOR; FAMILY HISTORY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC RISK; HEREDITY; HUMAN; INCIDENCE; ONCOGENE; ONSET AGE; OVARY CARCINOMA; PROTEIN SYNTHESIS; RISK FACTOR;

ADULT; BREAST NEOPLASMS; CARCINOMA; FEMALE; GENES, BRCA1; GENETIC TECHNIQUES; HETEROZYGOTE; HUMANS; MIDDLE AGED; MUTATION; OVARIAN NEOPLASMS; RETROSPECTIVE STUDIES;

EID: 0345701384     PISSN: 12107832     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (35)

1. American Medical Association: Identifying and Managing Hereditary Risk for Breast and Ovarian Cancer. An AMA CME Program, Chicago, 2001.
2. Aunoble, B., Sanches, R., Didier, E., Bignon, Y. J.: Major oncogenes and tumor supressor genes involved in epithelial ovarian cancer (review). Int. J. Oncol. 16, 2000, 3, s. 567-576.
3. Boyle, P., Maisonneuve, P., Autier, P.: Update on cancer control in women. Int. J. Gyn. Obst., 70, 2000, s. 263-303.
4. Eeles, R., Kadouri, L.: BRCA 1/2 carriers and endocrine risk modifiers. Endocrine-Related. Cancer, 6, 1999, s. 521-528.
5. Fackenthal, J. D., Olopade, O. I.: Inherited Susceptibility to Breast and Ovarian Cancer. Advances in Oncology, 16, 2000, 3, s. 10-18.
6. Ford, D., Easton, D. F., Bishop, T. et al.: Risk of cancer in BRCA 1 - mutations carriers. Lancet, 343, 1994, s. 692-695.
7. Foretová R., Navrátilová, M., Plevová, P., Macháčková, E.: Dědičná forma nádorů prsu/vaječníku s pozitivní mutací v genech BRCA 1 - prevence a follow-up. Sborník přednášek z 6. ročníku sympozia Onkologie v gynekologii a mammologii, Brno, 2001.
8. Garvin, A. M., Spycher, M., Häner, M. et al.: BRCA 1 mutations in a selected series of breast/ovarian cancer patients. J. Med. Genet., 33, 1996, s. 721-725.
9. Greene, M. H.: Genetics of Breast Cancer. Mayo Clinic Proc., 72, 1997, s. 54-65.
10. Greggi, S., Macuso, S., Pecorelli, S.: Familial and Hereditary Cancer in Women. Poletto Editore, Milano, 1999, 180 s.
11. Hall, J. M., Lee, M. K., Newman, B., Morrow, J. E.,Anderson, L. A, Huey, B., King, M. C.: Linkage of early-onset familial breast cancer to chromosome 17q21. Science, 250, 1990, s. 1684-1689.
12. Harris, J. R., Lippman, M. E., Morrow, M., Osborne, C. K.: Diseases of the Breast. Sec. Editian, Lippincott Williams and Wilkins, Philadelphia, 2000, s. 1152.
13. Holt, J. T., Thompson, M. E., Szabo, C. et al.: Growth retardation and tumour inhibition by BRCA 1. Nature Genetics, 12, 1996, s. 295-302.
14. Hogervorst, F. B. L., Cornelis, R. S., Bout, M. et al.: Rapid detection of BRCA 1 mutations by the protein truncation test. Nat. Genetics, 10, 1995, s. 208-211.
15. Hoskins, W. J., Perez, C. A., Young, R. C.: Principles and Practice of Gynecologic Oncology. Third Edition, Lippincott Williams and Wilkins, Philadelphia, 2000, s. 1268.
16. Kalábová, R., Foretová, L., Zlámal, P. et al.: Přístup gynekologa k rizikovým ženám s mutací v genech BRCA 1 a BRCA 2. Sborník přednášek z 6. ročníku sympozia Onkologie a gynekologii a mammologii, Brno, 2001.
17. King, C., Rowell, S., Love, S. M.: Dědičný karcinom prsu a ovaria - rizika a možnosti volby. JAMA - CS, 1, 1993, 7, s. 537-542.
18. Kinzler, K., Vogelstein, B.: Gatekeepers and caretakers. Nature, 386, 1997, s. 761-763.
19. Konopásek, B.: Karcinom prsu. Forum medicinae, 2, 2000, 1, s. 20-24.
20. Konopásek, B., Helmichová, E., Novotný, J., Pohlreich, P., Kleibl, Z., Křepelová, A.: Rodiny a nositelství BRCA 1 v mammární problematice. Sborník přednášek z 6.ročníku sympozia Onkologie v gynekolii a mammologii, Brno, 2001.
21. Kutner, S. E.: Breast cancer genetics and managed care. Cancer Supplem., 86, 1999, 11, s. 2570-2574.
22. Miki, Y., Swensen, J., Shattuck-Eidens, D., Futreal, P. A., Harshman, K., Tavtigian, S., Liu, Q., Cochran, C., Bennett, L. M., Ding, W.: A strong candidate for the breast and ovarian cancer sesceptibility gene, BRCA 1. Science, 266, 1994, s. 66-71.
23. Langston, A. A., Ostrander, E. A.: Hereditary Ovarian Cancer. Current Opinion in Obstetrics and Gynecology, 9, 1997, s. 3-7
24. Pohlreich, P., Stříbrná, J., Kleibl, Z., Zikán, M., Konopásek, B., Jančárková, N., Kalbáčová R., Lazarov, P.: Mutační analýza genu BRCA 1 v rodinách s dědičným výskytem karcinomu prsu a ovaria. Chem.Listy, 94, 2000, s. 541-542.
25. Ponder, B.: Genetic Testing for Cancer Risk. Science, 278, 1997, s. 10150-1054.
26. Saretzki, G., Hoffmann, U., Ráhlke, P. et al.: Identification of Allelic Losses in Benign, Borderline and Invasive Epithelial Ovarian Tumors and Correlation with Clinical Outcome. Cancer, 80, 1997, 7, s. 1241-1248.
27. Schmutzler, R. K., Bierhof, E., Werkhausen, T. et al.: Genomic deletions in the BRCA 1, BRCA 2 and TP 53 regions associate with low expression of the estrogen receptor in sporadic breast carcinoma. Int. J. Cancer, 74, 1997, s. 322-325.
28. Schrag, D., Kuntz, K. M., Garber, J. E., Weeks, J. C.: Life Expectancy Gains from Cancer Prevention Strategies for Women with Breast Cancer and BRCA 1 or BRCA 2 Mutations. JAMA, 283, 2000, 5, s. 617-624.
29. Scully, R., Anderson, S. F., Chao, D. M., Wei, W., Ye, L., Young, R. A., Livingston, D. M., Parvin, J. D.: BRCA 1 is a component of the RNA poymerase II holoenzyme. Proc. Natl. Acad. Sci. USA 94, 1997, s. 5605-5610.
30. Shattuck-Eidens, D., Oliphant, A., McCure, M. et al.: BRCA 1 Sequence Analysis in Women at High Risk for Susceptibility Mutations. JAMA, 278, 1997, 15, s. 1242-1250.
31. Srivastava, A., McKinnon, W., Wood, M.: Risk of Breast and Ovarian Cancer Women with Strong Family Histories. Oncology, 15, 7, s. 889-902.
32. Statement of the American Society of Clinical Oncology: Genetic Testing for Cancer Susceptibility. J. Clin. Oncology, 14, 1996, 5, s. 1730-1736.
33. Stratton, M. R.: Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA 1 or BRCA 2 mutations and sporadic cases. Lancet, 349, 1997, s. 1505-1509.
34. Strnad, P.: Genetické faktory ovlivňujícící vývoj karcinomu prsu. Moderní gynekologie a porodnictví, 7, 1998, 3, s. 36-45.
35. Zikán, M., Pohlreich, P., Stříbrná, J., Jančárková, N.: Analýza mutací genu BRCA 1 u skupiny rizikových pacientek s karcinomem ovaria. Medica revue, 2, 2001, s. 44-47.