Search for frequent mutations in genes predisposing to breast cancer

Genetika

Volumn 37, Issue 12, 2001, Pages 1681-1686

  Ju Mandelshtam, M ^a,b,c  

^a INSTITUTE OF EXPERIMENTAL MEDICINE   (Russian Federation)

^b N N PETROV RESEARCH INSTITUTE OF ONCOLOGY   (Russian Federation)

^c RUSSIAN ACADEMY OF SCIENCES   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA2 PROTEIN; PRIMER DNA;

ARTICLE; BREAST TUMOR; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; TUMOR SUPPRESSOR GENE;

BASE SEQUENCE; BRCA2 PROTEIN; BREAST NEOPLASMS; DNA PRIMERS; FEMALE; GENES, BRCA1; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; POLYMERASE CHAIN REACTION;

EID: 0035755855     PISSN: 00166758     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Miki Y., Swensen J., Shattuck-Eidens D. et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCAl II Science. 1994. V. 266. P. 66-71.
2. Wooster R., Bignell G., Lancaster J. et al. Identification of the breast cancer susceptibility gene BRCA2 // Nature. 1995. V. 378. P. 789-792.
3. Easton D.F., Bishop D.T., FordD. et al. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families // Am. J. Human Genet. 1993. V. 52. P. 678-801.
4. Fodor F.H., Weston A., Bleiweiss I.J. et al. Frequency and carrier risk associated with common BRCAl and BRCA2 mutations in Ashkenazi Jewish breast cancer patients // Am. J. Human Genet. 1998. V. 63. Nsl.P. 4551.
5. Claus E.B., Schildkraut J.M., Thompson W.D., Risch NJ. The genetic attributable risk of breast and ovarian cancer//Cancer. 1996. V. 77. P. 2318-2324.
6. Beller U., Halle D., Catane R. et al. High frequency of BRCAl and BRCA2 germline mutations in Ashkenazi Jewish ovarian cancer patients, regardless of family history // Gynecol. Oncol. 1997. V. 67. Ms 2. P. 123-126.
7. Levy-Lahad E., Catane R., Eisenberg Sh. et al. Founder BRCAl and BRCA2 mutations in Askenazi Jews in Israel: Frequency and differential penetrance in ovarian cancer and in breast-ovarian families // Am. J. Human. Genet. 1997. V. 60. P. 1059-1067.
8. GreenmanJ., MohammedS.,EllisD. étal. Identification of missense and truncating mutations in the BRCAl gene in sporadic and familial breast and ovarian cancer// Genes, Chromosomes and Cancer. 1998. V. 21. P. 244249.
9. Gayther S.A., Harrington P., Russell P. et al. Frequently occuring germ-line mutations of the BRCA1 gene in ovarian cancer families from Russia // Am. J. Human. Genet. 1997. V. 60. JNb 5. P. 1239-1242.
10. Neuhausen S., Gilewski T., Nortron L. et al. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer // Nature Genet. 1996. V. B.Ksl.P. 126-128.
11. Oddoux C., Struewing J.P., Clayton CM. et al. The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1% // Nature Genet. 1996. V. 14. JMs 2. P. 188-190.
12. RoaB.B.,BoydAA., VolcikK., Richards C.S. Ashkenazi Jewish population frequencies for common mutation in BRCA1 and BRCA2 II Nature Genet. 1996. V. 14. Jfc 2. P. 185-187.
13. Mandelshtam MJu., Chakir Kh., Shevtsov S.P. et al. Prevalence of Lithuanian mutatin among St. Petersburg Jews with familial hypercholesterolemia // Human Mutât. 1998. V. 12. JNs 4. P. 255-258.
14. Ozcelik H., Antebi YJ., Cole D.E.S., Andrulis I.L. Heteroduplex and protein truncation analysis of the BRCA1 185delAG mutation // Human Genet. 1996. V. 98. P. 310-312.
15. Gayther S.A., Harrington P., Russell P. et al. Rapid deletion of regionally clustered germ-line BRCA1 muta-lions by multiplex heteroduplex analysis // Am. J. Human Genet. 1996. V. 58. P. 451-456.
16. Mansukhani MM., Nastiuk K.L., Hibshoosh H. et al. Convenient, nonradioactive, heteroduplex-based methods for identifying recurrent mutations in the BRCA1 and BRCA2 genes // Diagnostic Mol. Pathol. 1997. V. 6. No 4. P. 229-237.
17. Kunkel L.M., Smith K.D., Boyer S.H. et al. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants // Proc. Natl Acad. Sei. USA. 1977. V. 74. P. 1245-1249.
18. Bell G.I., Karam J.H., Rutter W.J. Polymorphic DNA region adjacent to the 5' end of the human insulin gene // Proc. Natl Acad. Sei. USA. 1981. V. 78. P. 5759-5763.
19. Friedman L.S., Ostermeyer E.A., Szabo C.I. et al. Conformation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families // Nature. Genet. 1994. V. 8. P. 399-404.