© 2005 BMJ Publishing Group Ltd
LETTER TO JMG
Sex ratio skewing of offspring in families with hereditary susceptibility to breast cancer
Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Correspondence to:
Correspondence to:
Dr Susan Domchek
14 Penn Tower, Hospital of the University of Pennsylvania, 3400 Spruce St, Philadelphia, PA 19104, USA; susan.domchek@uphs.upenn.edu
Revised version received 3 January 2005
Accepted 5 January 2005
Abbreviations: CSGE, conformation sensitive gel electrophoresis; HBOC, hereditary breast and ovarian cancer
Keywords: BRCA1; BRCA2; sex ratio distribution
| The first 150 words of the full text of this article appear below. |
The function of BRCA1 is complex and includes roles in DNA damage repair, cell cycle control, regulation of transcription, and X chromosome inactivation.1,2 TSIX is thought to control X chromosome inactivation by blocking the accumulation of XIST on the active X chromosome.3 BRCA1 co-localises with XIST inactive X chromosomes (Xi) and stabilises Xi. Because of this interaction, the loss of BRCA1 is associated with altered Xi chromatin structure and increased expression of silenced Xi genes.1,2 Mouse models have suggested a link between aberrant X chromosome inactivation and sex ratio skewing, with a bias towards male births when TSIX activity is abolished.3 In addition, non-random X chromosome inactivation has been seen in BRCA1 mutation carriers with ovarian cancer.4 With these data as background, a skewed sex ratio in offspring of BRCA1 mutation carriers was reported,5 with a bias towards females, compared with offspring of women with BRCA2 mutations and those without
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This article has been cited by other articles:
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Agnese, D M
(2006). Battle of the BRCA1/BRCA2 (offspring) sex ratios: truth or consequences. J. Med. Genet.
43: 201-202
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