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PMID: 22072393
UKPMCID: 22072393
DOI: 10.1093/hmg/ddr525

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Gene-gene interactions in breast cancer susceptibility.

Turnbull, Clare; Seal, Sheila; Renwick, Anthony; Warren-Perry, Margaret; Hughes, Deborah; Elliott, Anna; Pernet, David; Peock, Susan; Adlard, Julian W; Barwell, Julian; Berg, Jonathan; Brady, Angela F; Brewer, Carole; Brice, Glen; Chapman, Cyril; Cook, Jackie; Davidson, Rosemarie; Donaldson, Alan; Douglas, Fiona; Greenhalgh, Lynn; Henderson, Alex; Izatt, Louise; Kumar, Ajith; Lalloo, Fiona; Miedzybrodzka, Zosia; Morrison, Patrick J; Paterson, Joan; Porteous, Mary; Rogers, Mark T; Shanley, Susan; Walker, Lisa; ; Ahmed, Munaza; Eccles, Diana; Evans, D Gareth; Donnelly, Peter; Easton, Douglas F; Stratton, Michael R; Rahman, Nazneen

Human molecular genetics. 2012;21(4):958-62.

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Full-text held externally

PMID: 22072393
UKPMCID: 22072393
DOI: 10.1093/hmg/ddr525

Abstract

There have been few definitive examples of gene-gene interactions in humans. Through mutational analyses in 7325 individuals, we report four interactions (defined as departures from a multiplicative model) between mutations in the breast cancer susceptibility genes ATM and CHEK2 with BRCA1 and BRCA2 (case-only interaction between ATM and BRCA1/BRCA2 combined, P = 5.9 × 10(-4); ATM and BRCA1, P= 0.01; ATM and BRCA2, P= 0.02; CHEK2 and BRCA1/BRCA2 combined, P = 2.1 × 10(-4); CHEK2 and BRCA1, P= 0.01; CHEK2 and BRCA2, P= 0.01). The interactions are such that the resultant risk of breast cancer is lower than the multiplicative product of the constituent risks, and plausibly reflect the functional relationships of the encoded proteins in DNA repair. These findings have important implications for models of disease predisposition and clinical translation.

Bibliographic metadata

Type of resource:

text

Content type:

Journal article

Publication type:

Review article

Author(s):

Collaborator(s):

Published date:

2012-02-15

Article title:

Gene-gene interactions in breast cancer susceptibility.

Journal title:

Human molecular genetics

Abbreviated journal title:

Hum Mol Genet

ISSN:

1460-2083

Place of publication:

England

Volume:

Issue:

Pagination:

958-62

Digital Object Identifier:

10.1093/hmg/ddr525

Pubmed Identifier:

22072393

Pii Identifier:

ddr525

Funder acknowledgement:

Access state:

Active

Institutional metadata

University researcher(s):

Evans, Gareth

Academic department(s):

Record metadata

Manchester eScholar ID:

uk-ac-man-scw:210768

Created by:

Evans, Gareth

Created:

12th October, 2013, 13:37:43

Last modified by:

Evans, Gareth

Last modified:

12th October, 2013, 13:37:43