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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
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Kelly, Patrick
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Chagtai, Tasnim
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Ahmed, Munaza
ad917171-e73a-44fc-8440-5b9cafd801b2
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
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
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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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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

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Date deposited: 23 Mar 2007
Last modified: 13 Mar 2019 21:05

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