Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/17399
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Type: Journal article
Title: Ratio of male to female births in the offspring of BRCA1 and BRCA2 carriers
Author: Chenevix-Trench, G.
Sinilnikova, O.
Suthers, G.
Pandeya, N.
Mazoyer, S.
Sambrook, J.
Goldup, S.
Goldgar, D.
Lynch, H.
Lenoir, G.
Cheetham, G.
Citation: Familial Cancers, 2005; 4(2):73-75
Publisher: Kluwer Acadmic Publishers Group
Issue Date: 2005
ISSN: 1389-9600
1573-7292
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.
Keywords: kConFab; Chromosomes, Human, X; Humans; Breast Neoplasms; Ovarian Neoplasms; Cohort Studies; Pedigree; Sex Ratio; Heterozygote; Genes, BRCA1; Genes, BRCA2; Adult; Infant, Newborn; United States; Australia; Female; Male
RMID: 0020051450
DOI: 10.1007/s10689-004-2102-y
Appears in Collections:Paediatrics publications

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