The University of Southampton
University of Southampton Institutional Repository

Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain

Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain
Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain
About one woman in 1,000 has an extra X chromosome, but such women have no recognised characteristic somatic features and little is known about their long-term health and cancer risks. We conducted a cohort study of mortality and cancer incidence in 542 women diagnosed with X polysomy at 25 cytogenetic centres in Britain since 1959. Fifty-nine deaths occurred during follow-up to mid-2004. Mortality was significantly raised (standardised mortality ratio (SMR) = 2.5 (95% confidence interval (CI) 1.9–3.2)), with excess deaths due particularly to cardiovascular disease (SMR = 2.5 (95% CI 1.5–3.8)) and respiratory disease (SMR = 4.0 (95% CI 1.7–7.9)). Risks of cancer incidence and cancer mortality overall were not raised, but there was significantly raised mortality from non-Hodgkin’s lymphoma (NHL) (SMR = 10.4 (95% CI 1.3–37.6); based on 2 cases). The data indicate that mortality in women diagnosed with X polysomy is considerably raised. The raised risk of NHL is seen also in males with more than one X chromosome, and hence although unexpected and based on small numbers, it might indicate the action of a gene on the X chromosome, possibly in the pseudoautosomal region, that escapes X-inactivation.
mortality, cancer incidence, x polysomy
0340-6717
255-260
Swerdlow, Anthony J.
5f6c764b-1374-49d1-bcee-1bdae5f47b9d
Schoemaker, Minouk J.
d6949f41-d64c-4b46-aedb-d6a87c36797f
Higgins, Craig D.
93df71b7-f76b-4b16-9a5b-359ae84377d2
Wright, Alan F.
7efbb151-a98c-4398-b69f-92d5cac84f50
Jacobs, Patricia A.
d87ec15b-13c3-4868-96f1-b4b99030fa5b
Swerdlow, Anthony J.
5f6c764b-1374-49d1-bcee-1bdae5f47b9d
Schoemaker, Minouk J.
d6949f41-d64c-4b46-aedb-d6a87c36797f
Higgins, Craig D.
93df71b7-f76b-4b16-9a5b-359ae84377d2
Wright, Alan F.
7efbb151-a98c-4398-b69f-92d5cac84f50
Jacobs, Patricia A.
d87ec15b-13c3-4868-96f1-b4b99030fa5b

Swerdlow, Anthony J., Schoemaker, Minouk J., Higgins, Craig D., Wright, Alan F. and Jacobs, Patricia A. (2005) Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain. Human Genetics, 118 (2), 255-260. (doi:10.1007/s00439-005-0043-7).

Record type: Article

Abstract

About one woman in 1,000 has an extra X chromosome, but such women have no recognised characteristic somatic features and little is known about their long-term health and cancer risks. We conducted a cohort study of mortality and cancer incidence in 542 women diagnosed with X polysomy at 25 cytogenetic centres in Britain since 1959. Fifty-nine deaths occurred during follow-up to mid-2004. Mortality was significantly raised (standardised mortality ratio (SMR) = 2.5 (95% confidence interval (CI) 1.9–3.2)), with excess deaths due particularly to cardiovascular disease (SMR = 2.5 (95% CI 1.5–3.8)) and respiratory disease (SMR = 4.0 (95% CI 1.7–7.9)). Risks of cancer incidence and cancer mortality overall were not raised, but there was significantly raised mortality from non-Hodgkin’s lymphoma (NHL) (SMR = 10.4 (95% CI 1.3–37.6); based on 2 cases). The data indicate that mortality in women diagnosed with X polysomy is considerably raised. The raised risk of NHL is seen also in males with more than one X chromosome, and hence although unexpected and based on small numbers, it might indicate the action of a gene on the X chromosome, possibly in the pseudoautosomal region, that escapes X-inactivation.

This record has no associated files available for download.

More information

Published date: November 2005
Keywords: mortality, cancer incidence, x polysomy

Identifiers

Local EPrints ID: 24971
URI: http://eprints.soton.ac.uk/id/eprint/24971
ISSN: 0340-6717
PURE UUID: 47d59fe5-de66-42d0-86c8-16b9154ca979

Catalogue record

Date deposited: 04 Apr 2006
Last modified: 15 Mar 2024 06:59

Export record

Altmetrics

Contributors

Author: Anthony J. Swerdlow
Author: Minouk J. Schoemaker
Author: Craig D. Higgins
Author: Alan F. Wright
Author: Patricia A. Jacobs

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×