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] |