mesheuropmc: skin and connective tissue diseases | endocrine system diseases
Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be\ud associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality... View more
1. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, et al. (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72: 1117-1130.
2. Chen S, Iversen ES, Friebel T, Finkelstein D, Weber BL, et al. (2006) Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol 24: 863-871.
3. Milne RL, Osorio A, Cajal TR, Vega A, Llort G, et al. (2008) The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain. Clin Cancer Res 14: 2861-2869.
4. Chenevix-Trench G, Milne RL, Antoniou AC, Couch FJ, Easton DF, et al. (2007) An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA). Breast Cancer Res 9: 104.
5. Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, et al. (2012) 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 14: R33.
6. Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooley KA, et al. (2008) Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet 82: 937-948.
7. Antoniou AC, Sinilnikova OM, McGuffog L, Healey S, Nevanlinna H, et al. (2009) Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet 18: 4442-4456.
8. Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, et al. (2010) A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet 42: 885-892.
9. Antoniou AC, Sinilnikova OM, Simard J, Leone M, Dumont M, et al. (2007) RAD51 135GRC modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet 81: 1186-1200.
10. Moynahan ME, Chiu JW, Koller BH, Jasin M (1999) Brca1 controls homologydirected DNA repair. Mol Cell 4: 511-518.