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ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
We screened individuals from 443 familial breast cancer pedigrees and 521 controls for ATM sequence variants and identified 12 mutations in affected individuals and two in controls (P = 0.0047). The results demonstrate that ATM mutations that cause ataxia-telangiectasia in biallelic carriers are breast cancer susceptibility alleles in monoallelic carriers, with an estimated relative risk of 2.37 (95% confidence interval (c.i.) = 1.51-3.78, P = 0.0003). There was no evidence that other classes of ATM variant confer a risk of breast cancer.
1061-4036
873-875
Renwick, Anthony
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Thompson, Deborah
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Seal, Sheila
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Kelly, Patrick
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Chagtai, Tasnim
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Ahmed, Munaza
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North, Bernard
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Jayatilake, Hiran
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Barfoot, Rita
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Spanova, Katarina
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McGuffog, Lesley
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Evans, D. Gareth
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Eccles, Diana
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Easton, Douglas F.
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Stratton, Michael R.
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Rahman, Nazneen
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Breast Cancer Susceptibility Collaboration (UK)
Renwick, Anthony
3d9b9053-ec16-41a7-963d-b72f63c44cc9
Thompson, Deborah
65e016e8-1f8c-4c65-aa77-eec5cd94f3cf
Seal, Sheila
d8090fdd-aa7a-40c4-a4e4-18a094e7671f
Kelly, Patrick
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Chagtai, Tasnim
bd822fe3-6403-4727-baef-8214b7f1d4c0
Ahmed, Munaza
ad917171-e73a-44fc-8440-5b9cafd801b2
North, Bernard
55b4b800-9a2f-4af1-899f-a31a72f9bfe7
Jayatilake, Hiran
fce4b891-57b1-48e7-a276-b77ac5b490bf
Barfoot, Rita
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Spanova, Katarina
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McGuffog, Lesley
21522096-38bb-45df-aa56-caf2f27d7254
Evans, D. Gareth
314acefb-89fb-4eb7-a0e7-0a6949c9af6c
Eccles, Diana
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Easton, Douglas F.
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Stratton, Michael R.
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Rahman, Nazneen
d5eded76-0af9-4d72-8fea-84986bf49c51

Renwick, Anthony, Thompson, Deborah, Seal, Sheila, Kelly, Patrick, Chagtai, Tasnim, Ahmed, Munaza, North, Bernard, Jayatilake, Hiran, Barfoot, Rita, Spanova, Katarina, McGuffog, Lesley, Evans, D. Gareth, Eccles, Diana, Easton, Douglas F., Stratton, Michael R. and Rahman, Nazneen , Breast Cancer Susceptibility Collaboration (UK) (2006) ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nature Genetics, 38 (8), 873-875. (doi:10.1038/ng1837).

Record type: Article

Abstract

We screened individuals from 443 familial breast cancer pedigrees and 521 controls for ATM sequence variants and identified 12 mutations in affected individuals and two in controls (P = 0.0047). The results demonstrate that ATM mutations that cause ataxia-telangiectasia in biallelic carriers are breast cancer susceptibility alleles in monoallelic carriers, with an estimated relative risk of 2.37 (95% confidence interval (c.i.) = 1.51-3.78, P = 0.0003). There was no evidence that other classes of ATM variant confer a risk of breast cancer.

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More information

Published date: August 2006

Identifiers

Local EPrints ID: 45377
URI: http://eprints.soton.ac.uk/id/eprint/45377
ISSN: 1061-4036
PURE UUID: a67dc3a7-2f4c-46a2-994f-33103eec638e
ORCID for Diana Eccles: ORCID iD orcid.org/0000-0002-9935-3169

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Date deposited: 23 Mar 2007
Last modified: 16 Mar 2024 02:39

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Contributors

Author: Anthony Renwick
Author: Deborah Thompson
Author: Sheila Seal
Author: Patrick Kelly
Author: Tasnim Chagtai
Author: Munaza Ahmed
Author: Bernard North
Author: Hiran Jayatilake
Author: Rita Barfoot
Author: Katarina Spanova
Author: Lesley McGuffog
Author: D. Gareth Evans
Author: Diana Eccles ORCID iD
Author: Douglas F. Easton
Author: Michael R. Stratton
Author: Nazneen Rahman
Corporate Author: Breast Cancer Susceptibility Collaboration (UK)

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