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. 2021 May 25;22(11):5614. doi: 10.3390/ijms22115614

Table 1.

Breast cancer predisposition genes confer varying risk for carcinogenesis due to their role in critical molecular processes.

Breast Cancer Predisposition Genes (CPGs)
Risk Level Gene Estimated Incidence of Mutations in Hereditary Breast Cancer Associated Process
High Risk BRCA1 ~50% between BRCA1 and BRCA2 [4] HR (several functions) [6,8]
BRCA2 ~50% between BRCA1 and BRCA2 [4] HR (loading and leading RAD51) [6,8]
PALB2 <3% [9,10] HR (recruitment of BRCA2 and DNA replication via ICL) [6]
BARD1 <1% [8,11] HR (ubiquitin ligase) [6]
Moderate Risk TP53 25–30% [12,13] Cell cycle checkpoint protein (triggered by DNA damage) [7]
BRIP1 <3% [9,10] HR (complexes with BRCA1) [7]
RAD51C <3% [9,10] HR (promotes invading strand exchange) [8]
MSH6 <1% [8] Mismatch repair (MMR)-associated protein [14]
Low Risk ATM <3% [9,10] Cell cycle checkpoint protein [7]
CHEK2 <3% [9,10] Cell cycle checkpoint protein (checkpoint kinase-2) [7]
Nbn <1% [8] DDR (complexes with MRE11 and RAD50 in DSB) [15]
RAD50 <1% [8] DDR (complexes with MRE11 and Nbn in DSB) [15]