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Methylation: A second hit in the two-hit hypothesis

  • J. P. Geisler1,2,*,
  • J. A. Rathe1
  • K. J. Manahan1
  • H. E. Geisler2

1Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Holden Comprehensive Cancer Center, University of Iowa Hospitals and Clinics Iowa City, IA

2Division of Gynecologic Oncology, St. Vincent Hospital and Health Services Indianapolis, IN, USA

DOI: 10.12892/ejgo200305361 Vol.24,Issue 5,September 2003 pp.361-361

Published: 10 September 2003

*Corresponding Author(s): J. P. Geisler E-mail:

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Abstract

This case illustrates that methylation of one BRCA1 allele may serve as the second hit in a patient with a diploid locus and missense mutation on the other allele.

Keywords

BRCAJ; Methylation; Mutation; DNA silencing

Cite and Share

J. P. Geisler,J. A. Rathe,K. J. Manahan,H. E. Geisler. Methylation: A second hit in the two-hit hypothesis. European Journal of Gynaecological Oncology. 2003. 24(5);361-361.

URL:

https://www.ejgo.net/articles/10.12892/ejgo200305361

References

[1] Knudson A.G. Jr.: "Mutation and cancer: statistical study of retinoblastoma". Proc. Natl. Acad. Sci USA, 1971, 68, 820.

[2] Geisler J.P., Hatterman-Zogg M.A., Rathe J.A., Buller R.E.: "BRCAI dysfunction is common in ovarian cancer". J. Natl Cancer Inst., 2002, 94, 61.

[3] Lallas T.A., Buekers T.E., Buller R.E.: "BRCAI mutations in familial ovarian cancer". Malec. Genet. Metab., 1999, 67, 357.

[4] Lallas T.A., Buller R.E.: "SSCP techniques in BRCAl analysis". Malec. Genet. Metab., 1998, 64, 173.

[5] Geisler J.P., Rathe J.A., Hatteman-Zogg M.A., Lallas T.A., Kirby P.. Buller R.E.: "Ovarian cancer BRCAI mutation detection: Protein Truncation Test (PTT) outperforms Single Strand Conformation Polymorphism Analysis (SSCP)". Hum. Mut., 2001, 18, 337.

[6] Hilton J.L., Geisler J.P., Rathe J.A., Hattermann-Zogg M.A., De Young B., Buller R.E.: "Inactivation of BRCAl and BRCA2 in ovarian cancer". J. Natl. Cancer Inst., 2002, 94, 1396.

[7] Geisler J.P., Sood A.K., Holmes R.J., Hatterman-Zogg M.A., Rathe J.A., Buller R.E.: "Mismatch repair gene expression defects contribute to microsatellite instability in ovarian cancer". Cancer, (in press) 2003.

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