Sex ratio skewing of offspring in families with hereditary susceptibility to breast cancer

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 wi...

Full description

Saved in:
Bibliographic Details
Published in:Journal of medical genetics 2005-06, Vol.42 (6), p.511-513
Main Authors: Domchek, S M, Merillat, S L, Tigges, J, Tweed, A J, Weinar, M, Stopfer, J, Weber, B L
Format: Article
Language:English
Subjects:
Biological and medical sciences
BRCA1
BRCA2
Breast cancer
Breast Neoplasms - genetics
Cardiology. Vascular system
Chromosomes
conformation sensitive gel electrophoresis
CSGE
DNA Mutational Analysis
Female
General aspects. Genetic counseling
Genes
Genes, BRCA2
Genetic Carrier Screening
Genetic Predisposition to Disease
HBOC
hereditary breast and ovarian cancer
Hormone replacement therapy
Humans
Letter to JMG
Male
Medical genetics
Medical sciences
Mutation
Ovarian Neoplasms - genetics
Pedigree
Sex Ratio
sex ratio distribution
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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 mutations in either gene. [...]both small overall sample size and absence of 6174delT mutation carriers in the Spanish dataset may explain the discrepancies between these studies.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.2004.027722