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breast cancer susceptibility

Wednesday 8 February 2012

Candidate genes

- MAP3K1
- LSP1
- 10q23.32-q25.3 locus (17171685)

Gene-gene interactions in breast cancer susceptibility

Through mutational analyses in many individuals, four interactions (defined as departures from a multiplicative model) have been described between mutations in the breast cancer susceptibility genes ATM and CHEK2 with BRCA1 and BRCA2.

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.

Open references

- Gene-gene interactions in breast cancer susceptibility. Turnbull C, Seal S, Renwick A, Warren-Perry M, Hughes D, Elliott A, Pernet D, Peock S, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L; Breast Cancer Susceptibility Collaboration (UK), EMBRACE, Ahmed M, Eccles D, Evans DG, Donnelly P, Easton DF, Stratton MR, Rahman N. Hum Mol Genet. 2012 Feb 15;21(4):958-62. PMID: 22072393 [Free]