NDLI: Ratio of male to female births in the offspring of BRCA1 and BRCA2 carriers

Content Provider	Springer Nature Link
Author	Chenevix Trench, G. Sinilnikova, O. M. Suthers, G. Pandeya, N. Mazoyer, S. Sambrook, J. F. Goldup, S. Goldgar, D. Lynch, H. T. Leir, G. M. Cheetham, G.
Copyright Year	2005
Abstract	A recent report based on 68 families, including 17 with mutations in BRCA1, suggested that there was an excess of female offspring born to BRCA1 mutation carriers. We have examined the gender ratio among offspring of 511 mutation carriers from 116 BRCA1 families, 77 and 39 from Australia and the United States, respectively. We found no evidence for a significant deviation from the expected proportion of female offspring in the Australian pedigrees, but there was an excess of female offspring in pedigrees from the USA. Ascertainment bias probably explains this bias, rather than a link with X-chromosome inactivation as previously suggested, because the families from the USA were ascertained for the purposes of linkage studies whereas those from Australia were ascertained through Familial Cancer Clinics to which they had been referred for clinical genetic counseling and mutation testing.
Starting Page	73
Ending Page	75
Page Count	3
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	4
Issue Number	2
e-ISSN	15737292
Language	English
Publisher	Kluwer Academic Publishers
Publisher Date	2005-01-01
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	ascertainment bias BRCA1 BRCA2 familial breast cancer gender ratio Human Genetics Oncology Epidemiology
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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