Łukasiewicz S, Czeczelewski M, Forma A, Baj J, Sitarz R, Stanisławek A. Breast Cancer—Epidemiology, risk factors, classification, prognostic markers, and current treatment Strategies—An updated review. Cancers. 2021;13:4287.

Article  PubMed  PubMed Central  Google Scholar 

Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, et al. Global Cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2021;71:209–49.

Article  PubMed  Google Scholar 

Antoniou A, Pharoah PDP, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. 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. 2003;72:1117–30.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gronwald J, Byrski T, Huzarski T, Oszurek O, Janicka A, Szymańska-Pasternak J, et al. Hereditary breast and ovarian cancer. Hered Cancer Clin Pract. 2008;6:88.

Article  PubMed  PubMed Central  Google Scholar 

Dennis J, Ghadirian P, Little J, Lubinski J, Gronwald J, Kim-Sing C, et al. Alcohol consumption and the risk of breast cancer among BRCA1 and BRCA2 mutation carriers. Breast Edinb Scotl. 2010;19:479–83.

Article  Google Scholar 

Andrieu N, Goldgar DE, Easton DF, Rookus M, Brohet R, Antoniou AC, et al. Pregnancies, breast-feeding, and breast cancer risk in the international BRCA1/2 carrier cohort study (IBCCS). J Natl Cancer Inst. 2006;98:535–44.

Article  PubMed  Google Scholar 

Ko K-P, Kim SJ, Huzarski T, Gronwald J, Lubinski J, Lynch HT, et al. The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers. Int J Cancer. 2018;142:2263–72.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Park B, Hopper JL, Win AK, Dowty JG, Sung HK, Ahn C, et al. Reproductive factors as risk modifiers of breast cancer in BRCA mutation carriers and high-risk non-carriers. Oncotarget. 2017;8:102110–8.

Article  PubMed  PubMed Central  Google Scholar 

Adamson AW, Ding YC, Mendez-Dorantes C, Bailis AM, Stark JM, Neuhausen SL, The. RAD52 S346X variant reduces risk of developing breast cancer in carriers of pathogenic germline BRCA2 mutations. Mol Oncol. 2020;14:1124–33.

Antoniou AC, Beesley J, McGuffog L, Sinilnikova OM, Healey S, Neuhausen SL, et al. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res. 2010;70:9742–54.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Antoniou AC, Kartsonaki C, Sinilnikova OM, Soucy P, McGuffog L, Healey S, et al. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet. 2011;20:3304–21.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Antoniou AC, Kuchenbaecker KB, 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 BRCA2mutation carriers. Breast Cancer Res. 2012;14:R33.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Antoniou AC, Sinilnikova OM, 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.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Antoniou AC, Sinilnikova OM, Simard J, Léoné M, Dumont M, Neuhausen SL, 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.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooley KA, Schmutzler RK, 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.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, Sinilnikova OM, et al. 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. 2010;42:885–92.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Coignard J, Lush M, Beesley J, O’Mara TA, Dennis J, Tyrer JP, et al. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nat Commun. 2021;12:1078.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, K KB et al. KW Hunter editor. Genome-Wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian Cancer risk. PLoS Genet 2013;9:e1003212.

Cox DG, Simard J, Sinnett D, Hamdi Y, Soucy P, Ouimet M, et al. Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Hum Mol Genet. 2011;20:4732–47.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gaudet MM, Kirchhoff T, Green T, Vijai J, Korn JM, Guiducci C, et al. Common genetic variants and modification of penetrance of BRCA2-Associated breast Cancer. PLoS Genet. 2010;6:e1001183.

Article  PubMed  PubMed Central  Google Scholar 

Gaudet MM, Kuchenbaecker KB, Vijai J, Klein RJ, Kirchhoff T, McGuffog L, et al. Identification of a BRCA2-Specific modifier locus at 6p24 related to breast Cancer risk. PLoS Genet. 2013;9:e1003173.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jakubowska A, Gronwald J, Menkiszak J, Górski B, Huzarski T, Byrski T, et al. Methylenetetrahydrofolate reductase polymorphisms modify BRCA1-associated breast and ovarian cancer risks. Breast Cancer Res Treat. 2007;104:299–308.

Article  CAS  PubMed  Google Scholar 

Jakubowska A, Gronwald J, Menkiszak J, Górski B, Huzarski T, Byrski T, et al. The VEGF_936_C > T 3′UTR polymorphism reduces BRCA1-associated breast cancer risk in Polish women. Cancer Lett. 2008;262:71–6.

Article  CAS  PubMed  Google Scholar 

Kirchhoff T, Gaudet MM, Antoniou AC, McGuffog L, Humphreys MK, Dunning AM, et al. Breast Cancer risk and 6q22.33: combined results from breast Cancer association consortium and consortium of investigators on modifiers of BRCA1/2. PLoS ONE. 2012;7:e35706.

Article  CAS  PubMed  PubMed Central  Google Scholar 

OCGN SWE-BRCA, Study Collaborators HEBONEMBRACEGEMO. Association of PHB 1630 C > T and MTHFR 677 C > T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study. Br J Cancer. 2012;106:2016–24.

Article  PubMed Central  Google Scholar 

Rebbeck TR, Mitra N, Domchek SM, Wan F, Friebel TM, Tran TV, et al. Modification of BRCA1 -Associated breast and ovarian Cancer risk by BRCA1 -Interacting genes. Cancer Res. 2011;71:5792–805.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Totoń E, Jacczak B, Barczak W, Jagielski P, Gryczka R, Hołysz H, et al. No association between ABCB1 G2677T/A or C3435T polymorphisms and survival of breast Cancer Patients—A 10-Year Follow-Up study in the Polish population. Genes. 2022;13:729.

Article  PubMed  PubMed Central  Google Scholar 

Walker LC, Fredericksen ZS, Wang X, Tarrell R, Pankratz VS, Lindor NM, et al. Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2mutation carriers. Breast Cancer Res. 2010;12:R102.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang X, Pankratz VS, Fredericksen Z, Tarrell R, Karaus M, McGuffog L, et al. Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Hum Mol Genet. 2010;19:2886–97.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kluźniak W, Szymiczek A, Rodrigue A, Wokołorczyk D, Rusak B, Stempa K, et al. Common variant in ALDH2 modifies the risk of breast cancer among carriers of the p.K3326* variant in BRCA2. JCO Precis Oncol. 2022;6:e2100450.