Antonis C Antoniou
Affiliation: University of Cambridge
- Antoniou A, Sinilnikova O, Simard J, Leone M, Dumont M, Neuhausen S, et al. RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet. 2007;81:1186-200 pubmed..Thus, 135G-->C may modify the risk of breast cancer in BRCA2 mutation carriers by altering the expression of RAD51. RAD51 is the first gene to be reliably identified as a modifier of risk among BRCA1/2 mutation carriers. ..
- Antoniou A, Cunningham A, Peto J, Evans D, Lalloo F, Narod S, et al. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer. 2008;98:1457-66 pubmed publisher..BOADICEA can be used to predict carrier probabilities and cancer risks to individuals with any family history, and has been implemented in a user-friendly Web-based program (http://www.srl.cam.ac.uk/genepi/boadicea/boadicea_home.html). ..
- Antoniou A, Spurdle A, Sinilnikova O, Healey S, Pooley K, Schmutzler R, et al. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet. 2008;82:937-48 pubmed publisher....
- Antoniou A, Hardy R, Walker L, Evans D, Shenton A, Eeles R, et al. Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics. J Med Genet. 2008;45:425-31 pubmed publisher..Carrier prediction algorithms provide a rational basis for counselling individuals likely to carry BRCA1 or BRCA2 mutations. Their widespread use would improve equity of access and the cost-effectiveness of genetic testing. ..
- Antoniou A, Rookus M, Andrieu N, Brohet R, Chang Claude J, Peock S, et al. Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study. Cancer Epidemiol Biomarkers Prev. 2009;18:601-10 pubmed publisher..The results provide further confirmation that OC use, number of full-term pregnancies, and tubal ligation are associated with ovarian cancer risk in BRCA1 carriers to a similar relative extent as in the general population. ..
- Antoniou A, Sinilnikova O, McGuffog L, Healey S, Nevanlinna H, Heikkinen T, et al. Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet. 2009;18:4442-56 pubmed publisher..There was no evidence that the associations vary by mutation type depending on whether the mutated protein is predicted to be stable or not. ..
- Antoniou A, Kuchenbaecker K, Soucy P, Beesley J, Chen X, McGuffog L, et al. Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Res. 2012;14:R33 pubmed..049). The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers. ..